[{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"3:180648318-180648318","StructuralVariation":"nsv5674328"},{"description":"CILIARY DYSKINESIA, PRIMARY, 41","source":"MIM morbid","Gene":"ENSG00000270765","location":"17:35744511-35753260","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"618449"}},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs1253689023","mapped_to_accession":"EFO:0003900","location":"3:27297174-27297174","attributes":{"risk_allele":"G","associated_gene":"NEK10","MIM":"618726","external_id":"RCV001004051.3","clinical_significance":"likely pathogenic"}},{"description":"Ciliary dyskinesia","source":"dbVar","location":"7:785511-785658","StructuralVariation":"nsv3883170","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs369995851","description":"CILIARY DYSKINESIA, PRIMARY, 37","mapped_to_accession":"EFO:0003900","location":"3:52395402-52395402","attributes":{"external_id":"RCV001330874.1","clinical_significance":"uncertain significance","risk_allele":"G","associated_gene":"DNAH1"}},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7095127","location":"16:90027616-90043345"},{"mapped_to_accession":"EFO:0003900","location":"5:13751068-13754348","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18791929"},{"mapped_to_accession":"EFO:0003900","location":"11:102066577-102066577","attributes":{"external_id":"RCV000664434.5","clinical_significance":"pathogenic","MIM":"618058","risk_allele":"T","associated_gene":"CFAP300"},"source":"ClinVar","Variation":"rs561237622","description":"CILIARY DYSKINESIA, PRIMARY, 38"},{"description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs200640418","source":"ClinVar","attributes":{"clinical_significance":"likely benign","external_id":"RCV001733681.3","risk_allele":"A","associated_gene":"DNAH1"},"location":"3:52352682-52352682","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"16:90035613-90040529","SupportingStructuralVariation":"nssv17973510","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33"},{"StructuralVariation":"nsv5381498","location":"3:52322423-52332414","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"dbVar"},{"location":"7:726721-785653","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18786881"},{"mapped_to_accession":"EFO:0003900","location":"10:27935000-28000048","SupportingStructuralVariation":"nssv16212140","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs112708007","mapped_to_accession":"EFO:0003900","location":"17:11883757-11883762","attributes":{"associated_gene":"DNAH9,LOC101928350","risk_allele":"CTC","clinical_significance":"likely benign","external_id":"RCV002494203.1"}},{"location":"8:100151617-100163589","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar","SupportingStructuralVariation":"nssv15121497"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15129880","mapped_to_accession":"EFO:0003900","location":"15:55450222-55450367"},{"mapped_to_accession":"EFO:0003900","location":"17:11933988-11933988","attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV005356541.1","risk_allele":"T","associated_gene":"DNAH9"},"source":"ClinVar","Variation":"rs372892940","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"SupportingStructuralVariation":"nssv17971337","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"17:74299708-74299867"},{"Gene":"ENSG00000078900","source":"GenCC","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","mapped_to_accession":"EFO:0003900","location":"1:3652307-3736201","attributes":{"external_id":"HGNC:12003"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 42","Variation":"rs797045151","source":"ClinVar","attributes":{"MIM":"614086","risk_allele":"T","associated_gene":"MCIDAS","clinical_significance":"pathogenic","external_id":"RCV000983979.9"},"location":"5:55220427-55220427","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv15130181","location":"5:13864377-13868012","mapped_to_accession":"EFO:0003900"},{"Variation":"rs10902170","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar","location":"HSCHR11_1_CTG8:83806-83806","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"benign","external_id":"RCV001730981.2","risk_allele":"G","associated_gene":"LRRC56"}},{"StructuralVariation":"nsv7098118","location":"7:37894446-37897092","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 6: CILD6","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6634611","location":"5:13894974-13895270","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv3880941","location":"7:21892405-21895019","mapped_to_accession":"EFO:0003900"},{"Variation":"rs2469306647","description":"Ciliary dyskinesia, primary, 50","source":"ClinVar","location":"2:195796701-195796701","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV003224826.1","clinical_significance":"pathogenic","MIM":"610061","risk_allele":"T","associated_gene":"DNAH7"}},{"description":"Ciliary dyskinesia","source":"dbVar","location":"21:42472798-43172300","StructuralVariation":"nsv3886701","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Primary Ciliary Dyskinesia 1","mapped_to_accession":"EFO:0003900","location":"8:100151617-100163589","StructuralVariation":"nsv3873246"},{"source":"GenCC","Gene":"ENSG00000103540","description":"Ciliopathy","attributes":{"external_id":"HGNC:24342"},"mapped_to_accession":"EFO:0003900","location":"16:19523808-19553408"},{"mapped_to_accession":"EFO:0003900","location":"17:80058474-80059000","SupportingStructuralVariation":"nssv15130027","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs1314950247","source":"ClinVar","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV001335755.1","risk_allele":"A","associated_gene":"DNAH1"},"location":"3:52370742-52370742","mapped_to_accession":"EFO:0003900"},{"location":"8:100182304-100184656","StructuralVariation":"nsv4452567","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 28","source":"dbVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"3:180652255-180652255","StructuralVariation":"nsv7093535"},{"location":"8:100225153-100231308","StructuralVariation":"nsv4682376","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 28","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"14:49583667-49651397","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17968855"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6312359","location":"7:785497-785653","source":"dbVar","description":"Ciliary dyskinesia"},{"SupportingStructuralVariation":"nssv15770898","description":"Ciliary dyskinesia","source":"dbVar","location":"5:13791984-13944448","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 28","SupportingStructuralVariation":"nssv18790161","mapped_to_accession":"EFO:0003900","location":"8:100177796-100241022"},{"mapped_to_accession":"EFO:0003900","location":"8:100162279-100162420","StructuralVariation":"nsv3877193","source":"dbVar","description":"Ciliary dyskinesia, primary, 28"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7097732","location":"7:21543246-21639085"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 33","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4682341","location":"16:90035613-90043365"},{"attributes":{"risk_allele":"A","associated_gene":"DNAAF6","clinical_significance":"benign","external_id":"RCV001290366.1"},"mapped_to_accession":"EFO:0003900","location":"X:107218881-107218881","source":"ClinVar","Variation":"rs147979953","description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17172535","location":"5:13844827-13845003","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"X:38286241-38286242","SupportingStructuralVariation":"nssv18786021","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","location":"19:41355004-41355004","attributes":{"associated_gene":"B9D2","risk_allele":"T","external_id":"RCV005356188.1","clinical_significance":"uncertain significance"},"source":"ClinVar","Variation":"rs148087680","description":"Ciliopathy"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs1166058965","attributes":{"external_id":"RCV003990573.3","clinical_significance":"likely pathogenic","risk_allele":"T","associated_gene":"DNAH9"},"mapped_to_accession":"EFO:0003900","location":"17:11781008-11781008"},{"SupportingStructuralVariation":"nssv17972535","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:55222931-55223043"},{"Variation":"rs1852307190","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar","attributes":{"risk_allele":"C","associated_gene":"LRRC56","clinical_significance":"likely pathogenic","external_id":"RCV003989030.4"},"location":"11:550142-550142","mapped_to_accession":"EFO:0003900"},{"location":"17:19347308-19347308","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"B9D1","risk_allele":"G","external_id":"RCV005358138.1","clinical_significance":"uncertain significance"},"Variation":"rs1256190995","description":"Ciliopathy","source":"ClinVar"},{"SupportingStructuralVariation":"nssv18789011","description":"Ciliary dyskinesia","source":"dbVar","location":"X:38300884-38301391","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs2525379099","description":"Ciliary dyskinesia, primary, 49, without situs inversus","mapped_to_accession":"EFO:0003900","location":"1:1946378-1946378","attributes":{"associated_gene":"CFAP74","risk_allele":"C","external_id":"RCV003333634.1","clinical_significance":"uncertain significance"}},{"Variation":"rs867177356","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","location":"17:11871670-11871671","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"pathogenic","external_id":"RCV000754660.1","MIM":"603330","associated_gene":"DNAH9"}},{"attributes":{"associated_gene":"DNAH9","risk_allele":"C","external_id":"RCV005370007.1","clinical_significance":"uncertain significance"},"location":"17:11932057-11932057","mapped_to_accession":"EFO:0003900","Variation":"rs200168509","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"SupportingStructuralVariation":"nssv15130179","description":"Ciliary dyskinesia","source":"dbVar","location":"17:80097225-80099795","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs372109014","source":"ClinVar","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV001357766.2","risk_allele":"A","associated_gene":"DNAH9"},"location":"17:11747674-11747674","mapped_to_accession":"EFO:0003900"},{"attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV001330578.6","risk_allele":"T","associated_gene":"DNAH9"},"location":"17:11961948-11961948","mapped_to_accession":"EFO:0003900","Variation":"rs199667439","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"attributes":{"external_id":"HGNC:6388"},"mapped_to_accession":"EFO:0003900","location":"10:92574105-92655395","Gene":"ENSG00000138160","source":"GenCC","description":"Ciliopathy"},{"location":"5:13765956-13769635","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv16214260","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"ClinVar","Variation":"rs674303","description":"CILIARY DYSKINESIA, PRIMARY, 44","mapped_to_accession":"EFO:0003900","location":"3:27290686-27290686","attributes":{"risk_allele":"C","associated_gene":"NEK10","clinical_significance":"benign","external_id":"RCV001785433.2"}},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13768950-13794068","StructuralVariation":"nsv6312091"},{"location":"8:100151617-100163589","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv15149060","description":"Primary Ciliary Dyskinesia 1","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"15:55437070-55440618","SupportingStructuralVariation":"nssv16252267","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv5672986","location":"17:74286967-74287108"},{"mapped_to_accession":"EFO:0003900","location":"17:76139993-76139993","attributes":{"external_id":"RCV003447687.2","clinical_significance":"uncertain significance","risk_allele":"C","associated_gene":"FOXJ1"},"source":"ClinVar","Variation":"rs2068504768","description":"CILIARY DYSKINESIA, PRIMARY, 43"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs10510592","mapped_to_accession":"EFO:0003900","location":"3:27291329-27291329","attributes":{"associated_gene":"NEK10","risk_allele":"G","external_id":"RCV001785434.2","clinical_significance":"benign"}},{"StructuralVariation":"nsv7093419","location":"9:34514641-34514646","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"21:41740838-46445327","StructuralVariation":"nsv6311066"},{"description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs1578207026","source":"ClinVar","location":"3:52396446-52396446","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV001334863.1","clinical_significance":"uncertain significance","risk_allele":"G","associated_gene":"DNAH1"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar","SupportingStructuralVariation":"nssv16867262","location":"16:90022702-90043365","mapped_to_accession":"EFO:0003900"},{"attributes":{"clinical_significance":"benign","external_id":"RCV001785427.2","associated_gene":"NEK10","risk_allele":"A"},"location":"3:27162561-27162561","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs17854381","source":"ClinVar"},{"location":"9:34489303-34491574","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18790713"},{"location":"8:100162281-100162440","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar","SupportingStructuralVariation":"nssv17972388"},{"mapped_to_accession":"EFO:0003900","location":"1:3732780-3732780","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003141108.5","risk_allele":"T","associated_gene":"TP73"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","Variation":"rs780654718"},{"Variation":"rs374978907","description":"Ciliary dyskinesia, primary, 50","source":"ClinVar","attributes":{"risk_allele":"C","associated_gene":"DNAH7","external_id":"RCV003990324.3","clinical_significance":"uncertain significance"},"location":"2:195873670-195873670","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs199740667","attributes":{"external_id":"RCV003229599.2","clinical_significance":"uncertain significance","risk_allele":"A","associated_gene":"DNAH1"},"mapped_to_accession":"EFO:0003900","location":"3:52366862-52366862"},{"Variation":"rs61744677","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","attributes":{"associated_gene":"DNAH9","risk_allele":"A","clinical_significance":"uncertain significance","external_id":"RCV003146235.4"},"location":"17:11744968-11744968","mapped_to_accession":"EFO:0003900"},{"location":"X:107218927-107218927","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"pathogenic","external_id":"RCV001174503.4","risk_allele":"T","associated_gene":"DNAAF6"},"Variation":"rs765827471","description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","source":"ClinVar"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18791879","mapped_to_accession":"EFO:0003900","location":"7:21744418-21750384"},{"mapped_to_accession":"EFO:0003900","location":"17:11769116-11769117","attributes":{"associated_gene":"DNAH9","external_id":"RCV001262501.1","clinical_significance":"uncertain significance"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs1968092872"},{"location":"4:15567482-15567482","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"CC2D2A","risk_allele":"C","clinical_significance":"likely pathogenic","external_id":"RCV003993887.1"},"description":"Ciliopathy","Variation":"rs863225169","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"7:785511-785658","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15130829"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"7:754569-785653","StructuralVariation":"nsv6312460","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"618801"},"location":"11:113314543-113383544","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 45","source":"MIM morbid","Gene":"ENSG00000149292"},{"source":"ClinVar","Variation":"rs186019513","description":"CILIARY DYSKINESIA, PRIMARY, 40","attributes":{"external_id":"RCV002484828.1","clinical_significance":"uncertain significance","risk_allele":"C","associated_gene":"DNAH9"},"mapped_to_accession":"EFO:0003900","location":"17:11598537-11598537"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6311767","location":"5:55231375-55233523"},{"mapped_to_accession":"EFO:0003900","location":"5:13840896-13841140","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18791934"},{"location":"16:90035613-90040529","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17973510","description":"Ciliary dyskinesia, primary, 33","source":"dbVar"},{"attributes":{"clinical_significance":"pathogenic","external_id":"RCV001335757.1","risk_allele":"T","associated_gene":"DNAH1"},"location":"3:52388598-52388598","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs371940272","source":"ClinVar"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs1042476924","attributes":{"associated_gene":"DNAH1","risk_allele":"G","clinical_significance":"uncertain significance","external_id":"RCV001682619.1"},"mapped_to_accession":"EFO:0003900","location":"3:52352672-52352672"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs558363367","source":"ClinVar","location":"17:11680817-11680817","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV003991842.3"}},{"StructuralVariation":"nsv4454499","location":"8:100187100-100187270","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar"},{"location":"5:13900196-13944448","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17975198"},{"source":"ClinVar","Variation":"rs3740652","description":"CILIARY DYSKINESIA, PRIMARY, 39","attributes":{"risk_allele":"C","associated_gene":"LRRC56","clinical_significance":"benign","external_id":"RCV001730901.2"},"mapped_to_accession":"EFO:0003900","location":"11:552547-552547"},{"mapped_to_accession":"EFO:0003900","location":"5:13844602-13845345","SupportingStructuralVariation":"nssv16216516","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 3: CILD3"},{"location":"5:13791984-13794068","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17172178"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs759014538","source":"ClinVar","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003447617.1","associated_gene":"LRRC56"},"location":"HSCHR11_1_CTG8:70378-70380","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18791814","location":"19:55132915-55166648","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv18330641","description":"CILIARY DYSKINESIA, PRIMARY, 1: CILD1","source":"dbVar","location":"2:26412619-26418737","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7093203","location":"7:21738641-21738690","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 21","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv5980426","location":"2:26398038-26425785"},{"StructuralVariation":"nsv5673754","location":"5:13824193-13830781","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"ClinVar","Variation":"rs944446438","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11902911-11902911","attributes":{"associated_gene":"DNAH9","risk_allele":"T","external_id":"RCV001780983.4","clinical_significance":"likely pathogenic"}},{"location":"17:80048172-80050271","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17973714"},{"description":"Ciliary dyskinesia, primary, 53","Variation":"rs751867551","source":"ClinVar","location":"8:48730567-48730567","mapped_to_accession":"EFO:0003900","attributes":{"MIM":"619564","associated_gene":"CLXN","risk_allele":"A","clinical_significance":"likely pathogenic","external_id":"RCV003445283.2"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar","location":"16:90022702-90043365","StructuralVariation":"nsv5381097","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs12494966","description":"CILIARY DYSKINESIA, PRIMARY, 44","mapped_to_accession":"EFO:0003900","location":"3:27352928-27352928","attributes":{"associated_gene":"NEK10","risk_allele":"G","external_id":"RCV001785435.2","clinical_significance":"benign"}},{"SupportingStructuralVariation":"nssv15771030","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","mapped_to_accession":"EFO:0003900","location":"8:100187100-100187270"},{"mapped_to_accession":"EFO:0003900","location":"6:116616624-116931506","SupportingStructuralVariation":"nssv17974628","source":"dbVar","description":"Ciliary dyskinesia"},{"SupportingStructuralVariation":"nssv17970488","description":"Ciliary dyskinesia","source":"dbVar","location":"21:41740838-46445327","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"11:103255517-103255517","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003988815.1","risk_allele":"A","associated_gene":"DYNC2H1"},"source":"ClinVar","description":"Ciliopathy","Variation":"rs865919156"},{"attributes":{"associated_gene":"NEK4","external_id":"RCV000256411.4","clinical_significance":"likely pathogenic"},"mapped_to_accession":"EFO:0003900","location":"3:52741487-52741487","source":"ClinVar","Variation":"rs770418305","description":"Ciliopathy"},{"attributes":{"external_id":"RCV004547367.1","clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"NEK10"},"mapped_to_accession":"EFO:0003900","location":"3:27174461-27174461","source":"ClinVar","Variation":"rs770055117","description":"CILIARY DYSKINESIA, PRIMARY, 44"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs117483481","source":"ClinVar","attributes":{"external_id":"RCV002488992.1","clinical_significance":"likely benign","risk_allele":"A","associated_gene":"DNAH9"},"location":"17:11854038-11854038","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"HGNC:18758"},"mapped_to_accession":"EFO:0003900","location":"4:121824329-121870502","Gene":"ENSG00000138686","source":"GenCC","description":"Ciliopathy"},{"attributes":{"clinical_significance":"benign","external_id":"RCV001662401.3","associated_gene":"DNAH9,LOC101928350","risk_allele":"C"},"mapped_to_accession":"EFO:0003900","location":"17:11883634-11883634","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs8070256"},{"Variation":"rs201731662","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","location":"17:11822991-11822991","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV003146401.3","clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"DNAH9"}},{"mapped_to_accession":"EFO:0003900","location":"8:100162261-100162440","StructuralVariation":"nsv3877323","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17172180","location":"5:13917137-13919358","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13913723-13913978","StructuralVariation":"nsv3889110"},{"source":"GenCC","Gene":"ENSG00000048342","description":"Ciliopathy","attributes":{"external_id":"HGNC:29253"},"mapped_to_accession":"EFO:0003900","location":"4:15469865-15602097"},{"location":"3:180652143-180652286","StructuralVariation":"nsv3884784","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 1: CILD1","mapped_to_accession":"EFO:0003900","location":"2:26412619-26418737","StructuralVariation":"nsv6636048"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6312281","location":"5:13917160-13919623","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs748395042","source":"ClinVar","location":"3:52362506-52362506","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"DNAH1","external_id":"RCV004788673.1","clinical_significance":"uncertain significance"}},{"mapped_to_accession":"EFO:0003900","location":"8:100182304-100184656","source":"dbVar","description":"Ciliary dyskinesia, primary, 28","SupportingStructuralVariation":"nssv15769795"},{"source":"ClinVar","Variation":"rs200951874","description":"CILIARY DYSKINESIA, PRIMARY, 37","attributes":{"external_id":"RCV001683729.1","clinical_significance":"uncertain significance","associated_gene":"DNAH1","risk_allele":"A"},"mapped_to_accession":"EFO:0003900","location":"3:52332382-52332382"},{"SupportingStructuralVariation":"nssv16213389","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 30: CILD30","mapped_to_accession":"EFO:0003900","location":"19:11430679-11435036"},{"attributes":{"associated_gene":"DNAH1","clinical_significance":"benign","external_id":"RCV001662391.3"},"mapped_to_accession":"EFO:0003900","location":"3:52396682-52396682","source":"ClinVar","Variation":"rs775730815","description":"CILIARY DYSKINESIA, PRIMARY, 37"},{"location":"1:1923833-1923833","mapped_to_accession":"EFO:0003900","attributes":{"MIM":"620187","risk_allele":"G","associated_gene":"CFAP74","clinical_significance":"pathogenic","external_id":"RCV003152341.1"},"description":"Ciliary dyskinesia, primary, 49, without situs inversus","Variation":"rs755467514","source":"ClinVar"},{"attributes":{"external_id":"RCV005361866.1","clinical_significance":"likely pathogenic","risk_allele":"T","associated_gene":"TMEM231"},"location":"16:75545351-75545351","mapped_to_accession":"EFO:0003900","description":"Ciliopathy","Variation":"rs752141701","source":"ClinVar"},{"location":"21:42472818-42472890","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17968878"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4683198","location":"19:48302674-48312136"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"5:13780819-13780969","StructuralVariation":"nsv7097507","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv7093101","location":"X:38286241-38286242","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs8071438","source":"ClinVar","location":"17:11679772-11679772","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"C","associated_gene":"DNAH9","external_id":"RCV001662396.3","clinical_significance":"benign"}},{"location":"16:90040280-90043365","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar","SupportingStructuralVariation":"nssv16213120"},{"mapped_to_accession":"EFO:0003900","location":"7:21698055-21765609","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15129266"},{"SupportingStructuralVariation":"nssv17971646","description":"Ciliary dyskinesia","source":"dbVar","location":"5:13894640-13917266","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv18788001","description":"Ciliary dyskinesia","source":"dbVar","location":"21:42492738-42496186","mapped_to_accession":"EFO:0003900"},{"StructuralVariation":"nsv3912561","location":"16:84170134-84170134","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 41","Variation":"rs782485123","attributes":{"external_id":"RCV002466962.1","clinical_significance":"uncertain significance","risk_allele":"C","associated_gene":"GAS2L2"},"mapped_to_accession":"EFO:0003900","location":"17:35746157-35746157"},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV002272611.2","associated_gene":"DNAH9","risk_allele":"C"},"location":"17:11891873-11891873","mapped_to_accession":"EFO:0003900","Variation":"rs2151004315","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"Variation":"rs10510594","description":"CILIARY DYSKINESIA, PRIMARY, 44","source":"ClinVar","attributes":{"risk_allele":"G","associated_gene":"NEK10","external_id":"RCV001785432.2","clinical_significance":"benign"},"location":"3:27284960-27284960","mapped_to_accession":"EFO:0003900"},{"source":"MIM morbid","Gene":"ENSG00000234602","description":"CILIARY DYSKINESIA, PRIMARY, 42","attributes":{"external_id":"618695"},"mapped_to_accession":"EFO:0003900","location":"5:55218790-55227315"},{"description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs768707082","source":"ClinVar","attributes":{"external_id":"RCV005356261.1","clinical_significance":"uncertain significance","associated_gene":"DNAH1","risk_allele":"A"},"location":"3:52326176-52326176","mapped_to_accession":"EFO:0003900"},{"location":"12:76344474-76348447","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:26291"},"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000179941"},{"mapped_to_accession":"EFO:0003900","location":"X:38297264-38381449","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv16866838"},{"mapped_to_accession":"EFO:0003900","location":"X:107222768-107222775","attributes":{"external_id":"RCV000417064.1","clinical_significance":"pathogenic","MIM":"300933","associated_gene":"DNAAF6"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","Variation":"rs1057519568"},{"Variation":"rs1575215909","description":"CILIARY DYSKINESIA, PRIMARY, 44","source":"ClinVar","location":"3:27201558-27201558","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"NEK10","MIM":"618726","external_id":"RCV001004053.1","clinical_significance":"pathogenic"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs1400010651","source":"ClinVar","location":"17:11669566-11669566","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005360157.1","associated_gene":"LOC126862505,DNAH9","risk_allele":"G"}},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13817538-13820509","StructuralVariation":"nsv5673510"},{"mapped_to_accession":"EFO:0003900","location":"17:74309243-74310173","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv16212104"},{"mapped_to_accession":"EFO:0003900","location":"21:42472818-42496186","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17970964"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6310235","location":"17:74299708-74299867"},{"SupportingStructuralVariation":"nssv17975075","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","mapped_to_accession":"EFO:0003900","location":"16:90027616-90027742"},{"location":"16:90040280-90043365","StructuralVariation":"nsv4682290","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar"},{"source":"ClinVar","description":"Ciliary dyskinesia, primary, 52","Variation":"rs1435687311","attributes":{"risk_allele":"T","associated_gene":"DAW1","MIM":"620279","external_id":"RCV003389345.3","clinical_significance":"pathogenic"},"mapped_to_accession":"EFO:0003900","location":"2:227921464-227921464"},{"description":"CILIARY DYSKINESIA, PRIMARY, 41","source":"GenCC","Gene":"ENSG00000270765","location":"17:35744511-35753260","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:24846"}},{"source":"GenCC","Gene":"ENSG00000273831","description":"CILIARY DYSKINESIA, PRIMARY, 39","mapped_to_accession":"EFO:0003900","location":"HSCHR11_1_CTG8:67168-84556","attributes":{"external_id":"HGNC:25430"}},{"location":"19:48318367-48318771","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv18788105","description":"Ciliary dyskinesia","source":"dbVar"},{"attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV005363107.1","risk_allele":"G","associated_gene":"DNAH9"},"location":"17:11644673-11644673","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs771780422","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"17:11689852-11689852","attributes":{"associated_gene":"DNAH9","risk_allele":"T","external_id":"RCV005356154.1","clinical_significance":"likely pathogenic"},"source":"ClinVar","Variation":"rs760026221","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs140586111","mapped_to_accession":"EFO:0003900","location":"17:11769186-11769186","attributes":{"external_id":"RCV003146583.3","clinical_significance":"uncertain significance","associated_gene":"DNAH9","risk_allele":"A"}},{"location":"5:13765956-13769635","StructuralVariation":"nsv4681847","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"X:38287075-38291044","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18789012"},{"location":"16:84145260-84177918","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv8639425"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7096757","location":"5:13899053-13901265","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 6: CILD6","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6312345","location":"7:36390027-37916537"},{"source":"ClinVar","Variation":"rs377032791","description":"CILIARY DYSKINESIA, PRIMARY, 40","attributes":{"clinical_significance":"likely benign","external_id":"RCV002498272.1","risk_allele":"A","associated_gene":"DNAH9"},"mapped_to_accession":"EFO:0003900","location":"17:11719472-11719472"},{"mapped_to_accession":"EFO:0003900","location":"3:52390915-52393505","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","SupportingStructuralVariation":"nssv18786766"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv3871988","location":"15:55430650-55432622","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv6312414","location":"7:21901066-21901067","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia, primary, 49, without situs inversus","source":"GenCC","Gene":"ENSG00000142609","location":"1:1921951-2003837","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:29368"}},{"Variation":"rs757516746","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","attributes":{"associated_gene":"DNAH9","risk_allele":"A","clinical_significance":"uncertain significance","external_id":"RCV002272553.3"},"location":"17:11768549-11768549","mapped_to_accession":"EFO:0003900"},{"location":"X:13734667-13777955","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:2567"},"description":"Ciliopathy","Gene":"ENSG00000046651","source":"GenCC"},{"Variation":"rs533425606","description":"Ciliary dyskinesia, primary, 49, without situs inversus","source":"ClinVar","attributes":{"external_id":"RCV003152340.1","clinical_significance":"pathogenic","MIM":"620187","risk_allele":"A","associated_gene":"CFAP74"},"location":"1:1974047-1974047","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"3:52322687-52322687","attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV001784113.1","associated_gene":"DNAH1"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs1701192142"},{"mapped_to_accession":"EFO:0003900","location":"8:132572286-132572500","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 19: CILD19","SupportingStructuralVariation":"nssv17172092"},{"mapped_to_accession":"EFO:0003900","location":"1:3727346-3739337","SupportingStructuralVariation":"nssv17955495","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY"},{"location":"17:11933986-11933986","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"DNAH9","risk_allele":"C","external_id":"RCV003340806.3","clinical_significance":"uncertain significance"},"Variation":"rs2544900050","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"location":"X:38286093-38286194","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18785960"},{"StructuralVariation":"nsv6314436","location":"X:38286123-38286123","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"1:3826714-3826714","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005367790.1","associated_gene":"CEP104","risk_allele":"C"},"source":"ClinVar","Variation":"rs144805659","description":"Ciliopathy"},{"location":"X:105822847-107243298","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18830806"},{"description":"CILIARY DYSKINESIA, PRIMARY, 44","Gene":"ENSG00000163491","source":"GenCC","location":"3:27106484-27369460","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:18592"}},{"location":"X:38286123-38286123","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17974884","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7097780","location":"8:100177796-100241022","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28"},{"description":"CILIARY DYSKINESIA, PRIMARY, 42","Variation":"rs185737637","source":"ClinVar","location":"5:55220668-55220668","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV005396768.1","clinical_significance":"uncertain significance","associated_gene":"MCIDAS","risk_allele":"T"}},{"description":"Ciliopathy","Gene":"ENSG00000123810","source":"GenCC","attributes":{"external_id":"HGNC:28636"},"location":"19:41354417-41364165","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs719802","description":"CILIARY DYSKINESIA, PRIMARY, 45","attributes":{"risk_allele":"C","associated_gene":"TTC12","clinical_significance":"benign","external_id":"RCV001840827.2"},"mapped_to_accession":"EFO:0003900","location":"11:113363957-113363957"},{"description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs11129280","source":"ClinVar","attributes":{"associated_gene":"NEK10","risk_allele":"T","clinical_significance":"benign","external_id":"RCV001785431.2"},"location":"3:27284606-27284606","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"5:13791974-13944458","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv16212865"},{"source":"MIM morbid","Gene":"ENSG00000172426","description":"CILIARY DYSKINESIA, PRIMARY, 12","mapped_to_accession":"EFO:0003900","location":"6:43644229-43674358","attributes":{"external_id":"612650"}},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 32: CILD32","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6312568","location":"6:158999415-158999976"},{"SupportingStructuralVariation":"nssv17972890","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 6: CILD6","mapped_to_accession":"EFO:0003900","location":"7:37850247-37897112"},{"mapped_to_accession":"EFO:0003900","location":"X:37685956-38327373","SupportingStructuralVariation":"nssv17059544","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"HSCHR11_1_CTG8:83687-83687","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"LRRC56","risk_allele":"A","external_id":"RCV001730908.2","clinical_significance":"benign"},"Variation":"rs12793222","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar"},{"source":"MIM morbid","Gene":"ENSG00000137691","description":"CILIARY DYSKINESIA, PRIMARY, 38","attributes":{"external_id":"618063"},"mapped_to_accession":"EFO:0003900","location":"11:102047402-102085137"},{"source":"ClinVar","Variation":"rs770284","description":"CILIARY DYSKINESIA, PRIMARY, 37","attributes":{"external_id":"RCV001661454.3","clinical_significance":"benign","risk_allele":"G","associated_gene":"DNAH1"},"mapped_to_accession":"EFO:0003900","location":"3:52381849-52381849"},{"mapped_to_accession":"EFO:0003900","location":"3:49829103-50503423","StructuralVariation":"nsv7097202","source":"dbVar","description":"Ciliary dyskinesia"},{"SupportingStructuralVariation":"nssv15128338","description":"CILIARY DYSKINESIA, PRIMARY, 16: CILD16","source":"dbVar","location":"14:73671542-73671597","mapped_to_accession":"EFO:0003900"},{"location":"14:75902136-76084611","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:29669"},"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000119650"},{"mapped_to_accession":"EFO:0003900","location":"7:21901225-21901281","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 7: CILD7","SupportingStructuralVariation":"nssv15161482"},{"mapped_to_accession":"EFO:0003900","location":"2:218676236-218676236","attributes":{"associated_gene":"STK36","risk_allele":"A","clinical_significance":"uncertain significance","external_id":"RCV005023671.1"},"source":"ClinVar","Variation":"rs751586911","description":"CILIARY DYSKINESIA, PRIMARY, 46"},{"mapped_to_accession":"EFO:0003900","location":"7:21748602-21748602","attributes":{"MIM":"603339","associated_gene":"DNAH11","risk_allele":"T","external_id":"RCV000590992.3","clinical_significance":"pathogenic"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS","Variation":"rs121908854"},{"location":"7:21892405-21895019","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv15130180"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15131485","mapped_to_accession":"EFO:0003900","location":"5:13809024-13811843"},{"mapped_to_accession":"EFO:0003900","location":"1:3730973-3730973","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005396083.1","associated_gene":"TP73","risk_allele":"T"},"source":"ClinVar","Variation":"rs767248912","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY"},{"Variation":"rs11246180","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar","location":"11:550028-550028","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"benign","external_id":"RCV001730947.2","risk_allele":"G","associated_gene":"LRRC56"}},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17171761","location":"17:74281797-74285211","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv7095810","location":"21:42492738-42496186","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"HGNC:23352"},"mapped_to_accession":"EFO:0003900","location":"13:72781641-73018645","source":"GenCC","Gene":"ENSG00000083535","description":"Ciliopathy"},{"location":"11:540843-540843","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV003147798.1","clinical_significance":"likely pathogenic","risk_allele":"A","associated_gene":"LRRC56"},"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs2539848777","source":"ClinVar"},{"location":"5:13691964-13944458","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv16211974","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"6:38786745-38791694","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17173140","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7098411","location":"X:38269626-38421082"},{"mapped_to_accession":"EFO:0003900","location":"17:74281818-74314216","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18789472"},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003492934.2","risk_allele":"C","associated_gene":"BRWD1"},"mapped_to_accession":"EFO:0003900","location":"21:39232259-39232259","source":"ClinVar","description":"Ciliary dyskinesia, primary, 51","Variation":"rs200572296"},{"mapped_to_accession":"EFO:0003900","location":"6:121241510-121241510","attributes":{"risk_allele":"A","associated_gene":"TBC1D32","external_id":"RCV003994535.1","clinical_significance":"pathogenic"},"source":"ClinVar","Variation":"rs200603439","description":"Ciliopathy"},{"SupportingStructuralVariation":"nssv18791971","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar","location":"16:90027616-90043345","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18786401","mapped_to_accession":"EFO:0003900","location":"X:38286420-38286421"},{"Variation":"rs1564800859","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar","attributes":{"MIM":"618227","associated_gene":"LRRC56","risk_allele":"A","external_id":"RCV000735806.1","clinical_significance":"pathogenic"},"location":"HSCHR11_1_CTG8:74421-74421","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv18326729","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13894946-13895265"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"6:116616624-116931506","StructuralVariation":"nsv6312019","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs2151036048","description":"CILIARY DYSKINESIA, PRIMARY, 40","attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV001780987.4","risk_allele":"A","associated_gene":"DNAH9"},"mapped_to_accession":"EFO:0003900","location":"17:11932013-11932013"},{"location":"3:52390915-52393505","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 37: CILD37","source":"dbVar","SupportingStructuralVariation":"nssv18786766"},{"StructuralVariation":"nsv3871940","location":"5:13824199-13830775","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"SupportingStructuralVariation":"nssv15123467","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13923280-13923440"},{"location":"11:102058882-102058887","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"CFAP300","clinical_significance":"pathogenic","external_id":"RCV000995710.14"},"Variation":"rs745839898","description":"CILIARY DYSKINESIA, PRIMARY, 38","source":"ClinVar"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 3: CILD3","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4769402","location":"5:13764772-13769751"},{"description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar","StructuralVariation":"nsv4682376","location":"8:100225153-100231308","mapped_to_accession":"EFO:0003900"},{"location":"3:180661841-180662027","StructuralVariation":"nsv3880637","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"attributes":{"risk_allele":"T","associated_gene":"DNAH9","external_id":"RCV002051987.3","clinical_significance":"uncertain significance"},"location":"17:11822480-11822480","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs193137604","source":"ClinVar"},{"StructuralVariation":"nsv5673755","location":"5:13844827-13845003","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"17:80085785-80092148","SupportingStructuralVariation":"nssv18830913","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 15: CILD15"},{"mapped_to_accession":"EFO:0003900","location":"16:84147095-84152470","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 13: CILD13","SupportingStructuralVariation":"nssv15147919"},{"attributes":{"risk_allele":"G","associated_gene":"DNAH9","MIM":"603330","external_id":"RCV000754658.3","clinical_significance":"pathogenic"},"location":"17:11644703-11644703","mapped_to_accession":"EFO:0003900","Variation":"rs368341716","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"attributes":{"external_id":"RCV001007634.1","clinical_significance":"pathogenic","MIM":"610732","risk_allele":"G","associated_gene":"TTC12"},"mapped_to_accession":"EFO:0003900","location":"11:113362486-113362486","source":"ClinVar","Variation":"rs372955658","description":"CILIARY DYSKINESIA, PRIMARY, 45"},{"SupportingStructuralVariation":"nssv15129816","description":"Ciliary dyskinesia","source":"dbVar","location":"5:13917160-13919621","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 42","Variation":"rs6879219","source":"ClinVar","location":"5:55220693-55220693","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"MCIDAS","risk_allele":"A","external_id":"RCV001775795.3","clinical_significance":"benign"}},{"location":"5:13917160-13919621","StructuralVariation":"nsv3875403","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"16:90022722-90027742","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","SupportingStructuralVariation":"nssv17970799"},{"Variation":"rs151010999","description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","source":"ClinVar","location":"X:107212977-107212977","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV005231961.1","clinical_significance":"likely benign","associated_gene":"DNAAF6","risk_allele":"G"}},{"mapped_to_accession":"EFO:0003900","location":"16:90042450-90043365","source":"dbVar","description":"Ciliary dyskinesia, primary, 33","SupportingStructuralVariation":"nssv15145166"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18786548","location":"X:38286359-38286366","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv18786110","description":"Ciliary dyskinesia","source":"dbVar","location":"X:38286125-38286125","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs200839854","source":"ClinVar","location":"3:52381773-52381773","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003229605.2","associated_gene":"DNAH1","risk_allele":"G"}},{"location":"5:13718872-13721255","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16212740"},{"attributes":{"associated_gene":"DNAH9","risk_allele":"T","clinical_significance":"pathogenic","external_id":"RCV002291081.1"},"location":"17:11704317-11704317","mapped_to_accession":"EFO:0003900","Variation":"rs2544454642","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7098455","location":"9:32453281-37785044","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"7:726721-741485","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18786883"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 33","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6310116","location":"16:90027616-90027742"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"X:38300884-38301391","StructuralVariation":"nsv7098412"},{"location":"X:107218956-107218970","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV001089643.12","clinical_significance":"pathogenic","associated_gene":"DNAAF6"},"Variation":"rs1928059485","description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"7:21683764-21683964","StructuralVariation":"nsv3870518","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"X:38286359-38286366","StructuralVariation":"nsv7093421","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"StructuralVariation":"nsv6290007","location":"1:3727346-3739337","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY: CILD47","source":"dbVar"},{"Gene":"ENSG00000205084","source":"GenCC","description":"Ciliopathy","mapped_to_accession":"EFO:0003900","location":"16:75536573-75556289","attributes":{"external_id":"HGNC:37234"}},{"SupportingStructuralVariation":"nssv16213120","description":"Ciliary dyskinesia, primary, 33","source":"dbVar","location":"16:90040280-90043365","mapped_to_accession":"EFO:0003900"},{"attributes":{"clinical_significance":"pathogenic","external_id":"RCV000754659.3","risk_allele":"T","associated_gene":"DNAH9","MIM":"603330"},"mapped_to_accession":"EFO:0003900","location":"17:11679756-11679756","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs969193071"},{"location":"9:34514641-34514646","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv18786161","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"16:83899145-84177859","StructuralVariation":"nsv7094603","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"615294"},"mapped_to_accession":"EFO:0003900","location":"2:26401908-26456717","source":"MIM morbid","Gene":"ENSG00000157856","description":"CILIARY DYSKINESIA, PRIMARY, 21"},{"location":"1:3722204-3722204","mapped_to_accession":"EFO:0003900","attributes":{"MIM":"601990","risk_allele":"T","associated_gene":"TP73","clinical_significance":"pathogenic","external_id":"RCV001553814.4"},"Variation":"rs2124478772","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","source":"ClinVar"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17173007","location":"3:180648318-180648318","mapped_to_accession":"EFO:0003900"},{"location":"17:11752891-11752891","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"DNAH9","external_id":"RCV001807946.3","clinical_significance":"likely pathogenic"},"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs979425072","source":"ClinVar"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 16: CILD16","mapped_to_accession":"EFO:0003900","location":"14:73645020-74260939","StructuralVariation":"nsv4451120"},{"attributes":{"external_id":"HGNC:18141"},"location":"6:24171747-24383300","mapped_to_accession":"EFO:0003900","description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000146038"},{"attributes":{"external_id":"RCV001332081.2","clinical_significance":"uncertain significance","risk_allele":"G","associated_gene":"DNAH1"},"mapped_to_accession":"EFO:0003900","location":"3:52391291-52391291","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs556006237"},{"location":"7:20954872-22991111","StructuralVariation":"nsv7097363","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs376222045","source":"ClinVar","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005253612.2","risk_allele":"T","associated_gene":"DNAH9"},"location":"17:11747483-11747483","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"6:38786745-38791694","StructuralVariation":"nsv5673598","source":"dbVar","description":"Ciliary dyskinesia"},{"attributes":{"external_id":"HGNC:12425"},"mapped_to_accession":"EFO:0003900","location":"12:2877223-2941142","source":"GenCC","Gene":"ENSG00000078246","description":"Ciliopathy"},{"attributes":{"external_id":"HGNC:28302"},"location":"17:82023269-82031153","mapped_to_accession":"EFO:0003900","description":"Ciliopathy","Gene":"ENSG00000169683","source":"GenCC"},{"location":"17:80065465-80065626","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17971695"},{"mapped_to_accession":"EFO:0003900","location":"9:34520638-34520756","StructuralVariation":"nsv7097957","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","location":"17:11679789-11679789","attributes":{"associated_gene":"DNAH9","risk_allele":"T","clinical_significance":"uncertain significance","external_id":"RCV003146753.3"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs200266837"},{"Gene":"ENSG00000198718","source":"GenCC","description":"Ciliopathy","attributes":{"external_id":"HGNC:19959"},"mapped_to_accession":"EFO:0003900","location":"14:44962183-45074431"},{"attributes":{"external_id":"RCV003237323.2","clinical_significance":"pathogenic","MIM":"617824","associated_gene":"BRWD1","risk_allele":"A"},"location":"21:39198843-39198843","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 51","Variation":"rs147211854","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"7:21735620-21750384","StructuralVariation":"nsv3880061","source":"dbVar","description":"Ciliary dyskinesia"},{"Variation":"rs150023579","description":"Ciliopathy","source":"ClinVar","location":"19:41357980-41357980","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"B9D2","clinical_significance":"uncertain significance","external_id":"RCV005370225.1"}},{"mapped_to_accession":"EFO:0003900","location":"7:785497-785653","SupportingStructuralVariation":"nssv17970988","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","location":"HSCHR11_1_CTG8:80906-80906","attributes":{"risk_allele":"T","associated_gene":"LRRC56","MIM":"618227","external_id":"RCV000735805.1","clinical_significance":"pathogenic"},"source":"ClinVar","Variation":"rs372959912","description":"CILIARY DYSKINESIA, PRIMARY, 39"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7097638","location":"7:726721-729867","source":"dbVar","description":"Ciliary dyskinesia"},{"attributes":{"MIM":"602291","associated_gene":"FOXJ1","clinical_significance":"pathogenic","external_id":"RCV000983976.1"},"mapped_to_accession":"EFO:0003900","location":"17:76137652-76137655","source":"ClinVar","Variation":"rs1598372791","description":"CILIARY DYSKINESIA, PRIMARY, 43"},{"location":"11:554166-554166","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"LRRC56","risk_allele":"G","external_id":"RCV001730981.2","clinical_significance":"benign"},"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs10902170","source":"ClinVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 41","Variation":"rs201782410","source":"ClinVar","location":"17:35747163-35747163","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV002273100.3","associated_gene":"GAS2L2","risk_allele":"T"}},{"location":"8:100225153-100231308","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar","SupportingStructuralVariation":"nssv16212851"},{"attributes":{"risk_allele":"A","associated_gene":"DNAH9","external_id":"RCV004763317.2","clinical_significance":"likely pathogenic"},"mapped_to_accession":"EFO:0003900","location":"17:11640385-11640385","source":"ClinVar","Variation":"rs953946888","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"Variation":"rs774227660","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","attributes":{"external_id":"RCV005014823.1","clinical_significance":"likely pathogenic","risk_allele":"T","associated_gene":"DNAH9"},"location":"17:11598568-11598568","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs2277269","source":"ClinVar","location":"HSCHR11_1_CTG8:70360-70360","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"LRRC56","clinical_significance":"benign","external_id":"RCV002500017.1"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 38","Variation":"rs767760877","source":"ClinVar","attributes":{"MIM":"618058","risk_allele":"T","associated_gene":"CFAP300","clinical_significance":"pathogenic","external_id":"RCV000664435.4"},"location":"11:102047858-102047858","mapped_to_accession":"EFO:0003900"},{"location":"15:55430664-55432608","StructuralVariation":"nsv4453901","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"attributes":{"external_id":"618254"},"location":"11:536841-554925","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 39","Gene":"ENSG00000161328","source":"MIM morbid"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17972259","mapped_to_accession":"EFO:0003900","location":"17:74309243-74310173"},{"location":"X:38317296-38355827","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18789015"},{"attributes":{"associated_gene":"LRRC56","risk_allele":"C","external_id":"RCV001730966.2","clinical_significance":"benign"},"mapped_to_accession":"EFO:0003900","location":"11:554214-554214","source":"ClinVar","Variation":"rs10902171","description":"CILIARY DYSKINESIA, PRIMARY, 39"},{"description":"CILIARY DYSKINESIA, PRIMARY, 19: CILD19","source":"dbVar","StructuralVariation":"nsv5673946","location":"8:132572286-132572500","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs2544799526","source":"ClinVar","attributes":{"external_id":"RCV003146752.3","clinical_significance":"uncertain significance","associated_gene":"DNAH9","risk_allele":"C"},"location":"17:11871683-11871683","mapped_to_accession":"EFO:0003900"},{"StructuralVariation":"nsv5674172","location":"9:34489313-34493338","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"15:55429622-55432751","SupportingStructuralVariation":"nssv16297003","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"17:74299708-74305452","StructuralVariation":"nsv4683341"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6636069","location":"X:38286420-38286421"},{"location":"6:38737047-38750609","StructuralVariation":"nsv4682303","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"16:90022722-90040529","StructuralVariation":"nsv7094948","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33"},{"source":"ClinVar","Variation":"rs10902172","description":"CILIARY DYSKINESIA, PRIMARY, 39","mapped_to_accession":"EFO:0003900","location":"11:554299-554299","attributes":{"clinical_significance":"benign","external_id":"RCV001730927.2","associated_gene":"LRRC56","risk_allele":"G"}},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13840896-13841140","StructuralVariation":"nsv7097124"},{"description":"Ciliary dyskinesia, primary, 52","source":"MIM morbid","Gene":"ENSG00000123977","location":"2:227870931-227924344","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"620570"}},{"attributes":{"associated_gene":"DNAH9","clinical_significance":"pathogenic","external_id":"RCV001270165.10"},"mapped_to_accession":"EFO:0003900","location":"17:11598800-11598806","source":"ClinVar","Variation":"rs769795916","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"location":"7:726721-729867","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18786882"},{"attributes":{"external_id":"619466"},"location":"1:3652307-3736201","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","source":"MIM morbid","Gene":"ENSG00000078900"},{"mapped_to_accession":"EFO:0003900","location":"17:35747911-35747915","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005360501.1","associated_gene":"LOC130060735,GAS2L2"},"source":"ClinVar","Variation":"rs782650477","description":"CILIARY DYSKINESIA, PRIMARY, 41"},{"description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","Variation":"rs1243381694","source":"ClinVar","location":"X:107213000-107213000","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV003131967.3","clinical_significance":"uncertain significance","risk_allele":"G","associated_gene":"DNAAF6"}},{"mapped_to_accession":"EFO:0003900","location":"X:38291373-38291504","SupportingStructuralVariation":"nssv18789010","source":"dbVar","description":"Ciliary dyskinesia"},{"StructuralVariation":"nsv5672985","location":"17:74281797-74285211","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv4682273","location":"19:48296956-48312136","mapped_to_accession":"EFO:0003900"},{"Variation":"rs762224876","description":"CILIARY DYSKINESIA, PRIMARY, 38","source":"ClinVar","attributes":{"external_id":"RCV002221704.4","clinical_significance":"likely pathogenic","associated_gene":"CFAP300","risk_allele":"T"},"location":"11:102066646-102066646","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 43","Variation":"rs1598372830","attributes":{"clinical_significance":"pathogenic","external_id":"RCV000983973.1","MIM":"602291","associated_gene":"FOXJ1","risk_allele":"A"},"mapped_to_accession":"EFO:0003900","location":"17:76137718-76137718"},{"StructuralVariation":"nsv7094949","location":"16:90027616-90032944","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"17:11744944-11744944","attributes":{"external_id":"RCV002508073.1","clinical_significance":"benign","risk_allele":"G","associated_gene":"DNAH9"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs9892290"},{"mapped_to_accession":"EFO:0003900","location":"5:13809034-13810270","SupportingStructuralVariation":"nssv17971503","source":"dbVar","description":"Ciliary dyskinesia"},{"SupportingStructuralVariation":"nssv18790238","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"16:83899145-84177859"},{"mapped_to_accession":"EFO:0003900","location":"17:80085983-80095471","StructuralVariation":"nsv4682775","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"5:13900196-13944448","StructuralVariation":"nsv6312179","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"7:21784407-21789362","StructuralVariation":"nsv6312538","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs61746800","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11810260-11810260","attributes":{"risk_allele":"T","associated_gene":"DNAH9","clinical_significance":"likely benign","external_id":"RCV002489332.1"}},{"description":"Ciliary dyskinesia","source":"dbVar","location":"5:13823253-13944448","StructuralVariation":"nsv7097509","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"15:55430650-55432622","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15131596"},{"SupportingStructuralVariation":"nssv18789008","description":"Ciliary dyskinesia","source":"dbVar","location":"X:38269626-38421082","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs7942030","source":"ClinVar","location":"11:549959-549959","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"benign","external_id":"RCV001730922.2","risk_allele":"T","associated_gene":"LRRC56"}},{"Variation":"rs181843638","description":"CILIARY DYSKINESIA, PRIMARY, 42","source":"ClinVar","attributes":{"risk_allele":"T","associated_gene":"MCIDAS","clinical_significance":"benign","external_id":"RCV003114396.4"},"location":"5:55220703-55220703","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"5:13913723-13913978","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15143543"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6310042","location":"16:90042450-90043345","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33"},{"description":"CILIARY DYSKINESIA, PRIMARY, 35","Gene":"ENSG00000204815","source":"MIM morbid","attributes":{"external_id":"617092"},"location":"17:41930599-41966503","mapped_to_accession":"EFO:0003900"},{"location":"HSCHR11_1_CTG8:79639-79639","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV000735803.1","clinical_significance":"pathogenic","MIM":"618227","risk_allele":"A","associated_gene":"LRRC56"},"Variation":"rs1564805053","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"3:52350072-52350072","attributes":{"associated_gene":"DNAH1","risk_allele":"A","MIM":"603332","clinical_significance":"pathogenic","external_id":"RCV003232891.1"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs755572946"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6311068","location":"21:42472818-42496186"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15770756","mapped_to_accession":"EFO:0003900","location":"2:26440358-26444376"},{"attributes":{"risk_allele":"A","associated_gene":"TP73","external_id":"RCV003141107.3","clinical_significance":"uncertain significance"},"location":"1:3730145-3730145","mapped_to_accession":"EFO:0003900","Variation":"rs751239958","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"16:90022702-90040529","source":"dbVar","description":"Ciliary dyskinesia, primary, 33","SupportingStructuralVariation":"nssv15130845"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs1355800948","mapped_to_accession":"EFO:0003900","location":"17:11905726-11905726","attributes":{"associated_gene":"DNAH9","risk_allele":"G","external_id":"RCV001270164.2","clinical_significance":"uncertain significance"}},{"location":"17:11902756-11902756","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV002282573.1"},"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs145166733","source":"ClinVar"},{"attributes":{"associated_gene":"OFD1","risk_allele":"G","external_id":"RCV005355870.1","clinical_significance":"likely benign"},"mapped_to_accession":"EFO:0003900","location":"X:13760190-13760190","source":"ClinVar","description":"Ciliopathy","Variation":"rs200465596"},{"location":"16:90032817-90032885","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv18786003","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"3:52391251-52391251","attributes":{"risk_allele":"T","associated_gene":"DNAH1","external_id":"RCV003458503.1","clinical_significance":"uncertain significance"},"source":"ClinVar","Variation":"rs200784189","description":"CILIARY DYSKINESIA, PRIMARY, 37"},{"description":"Ciliary dyskinesia, primary, 33","source":"dbVar","SupportingStructuralVariation":"nssv18791971","location":"16:90027616-90043345","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"RCV002494272.1","clinical_significance":"likely benign","risk_allele":"A","associated_gene":"DNAH9"},"mapped_to_accession":"EFO:0003900","location":"17:11694009-11694009","source":"ClinVar","Variation":"rs188575211","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"mapped_to_accession":"EFO:0003900","location":"10:27860625-27862622","StructuralVariation":"nsv3883741","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23"},{"description":"Ciliary dyskinesia, primary, 28","source":"dbVar","location":"8:100177796-100241022","StructuralVariation":"nsv7097780","mapped_to_accession":"EFO:0003900"},{"Variation":"rs752238407","description":"Ciliary dyskinesia, primary, 50","source":"ClinVar","location":"2:195960673-195960679","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"pathogenic","external_id":"RCV003224831.1","MIM":"610061","associated_gene":"DNAH7"}},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv3885088","location":"3:180648145-180664006","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"17:80048172-80050271","StructuralVariation":"nsv6310241","mapped_to_accession":"EFO:0003900"},{"Variation":"rs1575588483","description":"CILIARY DYSKINESIA, PRIMARY, 44","source":"ClinVar","location":"3:27284882-27284882","mapped_to_accession":"EFO:0003900","attributes":{"MIM":"618726","associated_gene":"NEK10","external_id":"RCV001004052.1","clinical_significance":"pathogenic"}},{"source":"MIM morbid","Gene":"ENSG00000034239","description":"Ciliary dyskinesia, primary, 53","mapped_to_accession":"EFO:0003900","location":"8:48710789-48735311","attributes":{"external_id":"620642"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 45","Variation":"rs2470844224","source":"ClinVar","attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV003990527.3","associated_gene":"DNAH6","risk_allele":"A"},"location":"2:84781512-84781512","mapped_to_accession":"EFO:0003900"},{"StructuralVariation":"nsv5381514","location":"5:13840886-13841150","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"17:74286971-74287104","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17973673"},{"mapped_to_accession":"EFO:0003900","location":"16:84170134-84170134","SupportingStructuralVariation":"nssv15124015","source":"dbVar","description":"Ciliary dyskinesia"},{"attributes":{"associated_gene":"MCIDAS","clinical_significance":"uncertain significance","external_id":"RCV003120334.3"},"location":"5:55227017-55227017","mapped_to_accession":"EFO:0003900","Variation":"rs948396113","description":"CILIARY DYSKINESIA, PRIMARY, 42","source":"ClinVar"},{"source":"ClinVar","description":"Ciliopathy","Variation":"rs201949664","attributes":{"associated_gene":"TMEM67","risk_allele":"A","external_id":"RCV002272216.3","clinical_significance":"uncertain significance"},"mapped_to_accession":"EFO:0003900","location":"8:93803661-93803661"},{"location":"17:11834621-11834621","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"benign","external_id":"RCV001662840.3","risk_allele":"A","associated_gene":"DNAH9"},"Variation":"rs3744585","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV000203241.2","associated_gene":"IFT81","MIM":"605489"},"mapped_to_accession":"EFO:0003900","location":"12:110218208-110218214","source":"ClinVar","description":"Ciliopathy","Variation":"rs864309658"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18790712","location":"9:34489313-34489459","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"15:55450222-55450367","StructuralVariation":"nsv3880335","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4681267","location":"7:21681526-21745083"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv4683058","location":"3:180651381-180651553","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs200977350","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11902847-11902847","attributes":{"risk_allele":"C","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV005019447.1"}},{"mapped_to_accession":"EFO:0003900","location":"17:11598804-11598804","attributes":{"external_id":"RCV002496005.1","clinical_significance":"likely benign","associated_gene":"DNAH9","risk_allele":"C"},"source":"ClinVar","Variation":"rs28507962","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"mapped_to_accession":"EFO:0003900","location":"3:27322242-27322242","attributes":{"external_id":"RCV004547366.1","clinical_significance":"uncertain significance","risk_allele":"A","associated_gene":"NEK10"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs2470532874"},{"attributes":{"associated_gene":"LRRC56","risk_allele":"A","clinical_significance":"likely benign","external_id":"RCV002508023.1"},"mapped_to_accession":"EFO:0003900","location":"11:550192-550192","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs61736743"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16866018","location":"17:80097225-80099795","mapped_to_accession":"EFO:0003900"},{"Variation":"rs747916684","description":"Ciliopathy","source":"ClinVar","location":"6:121281539-121281539","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"TBC1D32","risk_allele":"T","external_id":"RCV005356861.1","clinical_significance":"uncertain significance"}},{"source":"ClinVar","Variation":"rs11926556","description":"CILIARY DYSKINESIA, PRIMARY, 44","mapped_to_accession":"EFO:0003900","location":"3:27192007-27192007","attributes":{"associated_gene":"NEK10","risk_allele":"A","external_id":"RCV001785428.2","clinical_significance":"benign"}},{"location":"19:48296956-48312136","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16213445"},{"mapped_to_accession":"EFO:0003900","location":"16:90027616-90032944","source":"dbVar","description":"Ciliary dyskinesia, primary, 33","SupportingStructuralVariation":"nssv18791972"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6312441","location":"7:20954872-23174298"},{"location":"4:15579968-15579970","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV003993780.1","clinical_significance":"pathogenic","associated_gene":"CC2D2A"},"Variation":"rs386833757","description":"Ciliopathy","source":"ClinVar"},{"Variation":"rs376555896","description":"Ciliopathy","source":"ClinVar","location":"16:75555872-75555872","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV001003228.1","associated_gene":"TMEM231","risk_allele":"A"}},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6312542","location":"7:37850247-37897112","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 6: CILD6"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7097116","location":"5:13751068-13754348"},{"attributes":{"external_id":"RCV005356868.1","clinical_significance":"uncertain significance","associated_gene":"TCTN3"},"location":"10:95664121-95664123","mapped_to_accession":"EFO:0003900","description":"Ciliopathy","Variation":"rs751622628","source":"ClinVar"},{"SupportingStructuralVariation":"nssv17974322","description":"Ciliary dyskinesia","source":"dbVar","location":"19:55151834-55166648","mapped_to_accession":"EFO:0003900"},{"attributes":{"risk_allele":"T","associated_gene":"DNAH1","clinical_significance":"pathogenic","external_id":"RCV004994250.3"},"location":"3:52388586-52388586","mapped_to_accession":"EFO:0003900","Variation":"rs1704217868","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"ClinVar"},{"location":"3:186567403-186585800","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:14889"},"description":"Ciliopathy","Gene":"ENSG00000090520","source":"GenCC"},{"attributes":{"risk_allele":"T","associated_gene":"DNAH9","external_id":"RCV005412428.1","clinical_significance":"likely pathogenic"},"location":"17:11894497-11894497","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs536602504","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4683215","location":"X:38269606-38310793","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 37: CILD37","mapped_to_accession":"EFO:0003900","location":"3:52322423-52332414","StructuralVariation":"nsv5381498"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv16214035","mapped_to_accession":"EFO:0003900","location":"6:38737047-38750609"},{"attributes":{"external_id":"HGNC:29182"},"mapped_to_accession":"EFO:0003900","location":"11:117314557-117413616","source":"GenCC","Gene":"ENSG00000110274","description":"Ciliopathy"},{"location":"3:52395572-52395572","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV001330875.1","associated_gene":"DNAH1","risk_allele":"A"},"Variation":"rs371451336","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"ClinVar"},{"attributes":{"risk_allele":"G","associated_gene":"DNAH9","clinical_significance":"benign","external_id":"RCV001662400.3"},"location":"17:11854239-11854239","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs12449553","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"16:84145441-84159816","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17970871"},{"source":"ClinVar","Variation":"rs988674658","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV002289369.2","risk_allele":"A","associated_gene":"LOC129929200,TP73"},"mapped_to_accession":"EFO:0003900","location":"1:3727645-3727645"},{"attributes":{"external_id":"HGNC:967"},"location":"16:56465640-56582667","mapped_to_accession":"EFO:0003900","description":"Ciliopathy","Gene":"ENSG00000125124","source":"GenCC"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","SupportingStructuralVariation":"nssv15130845","mapped_to_accession":"EFO:0003900","location":"16:90022702-90040529"},{"description":"Ciliopathy","Variation":"rs775138548","source":"ClinVar","location":"4:15527637-15527637","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV005359987.1","clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"CC2D2A"}},{"mapped_to_accession":"EFO:0003900","location":"17:11871737-11871737","attributes":{"risk_allele":"A","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV005055167.2"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs763238622"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs7942030","attributes":{"associated_gene":"LRRC56","risk_allele":"T","clinical_significance":"benign","external_id":"RCV001730922.2"},"mapped_to_accession":"EFO:0003900","location":"HSCHR11_1_CTG8:79599-79599"},{"mapped_to_accession":"EFO:0003900","location":"5:13894974-13895270","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18326730"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"15:55439472-55439581","StructuralVariation":"nsv3887587","mapped_to_accession":"EFO:0003900"},{"location":"5:55220785-55220785","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"likely benign","external_id":"RCV005230144.1","associated_gene":"MCIDAS","risk_allele":"A"},"description":"CILIARY DYSKINESIA, PRIMARY, 42","Variation":"rs199825346","source":"ClinVar"},{"Gene":"ENSG00000174483","source":"GenCC","description":"Ciliopathy","attributes":{"external_id":"HGNC:966"},"mapped_to_accession":"EFO:0003900","location":"11:66510606-66534660"},{"location":"X:107206606-107244247","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:28570"},"description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","source":"GenCC","Gene":"ENSG00000080572"},{"source":"ClinVar","Variation":"rs3744586","description":"CILIARY DYSKINESIA, PRIMARY, 40","attributes":{"associated_gene":"DNAH9","risk_allele":"T","clinical_significance":"benign","external_id":"RCV001662399.3"},"mapped_to_accession":"EFO:0003900","location":"17:11834624-11834624"},{"mapped_to_accession":"EFO:0003900","location":"21:42472798-43172300","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15144000"},{"location":"X:38286125-38286125","StructuralVariation":"nsv7093571","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 21: CILD21","source":"dbVar","location":"2:26398038-26425785","StructuralVariation":"nsv5980426","mapped_to_accession":"EFO:0003900"},{"location":"5:55222951-55222951","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"MCIDAS","risk_allele":"T","clinical_significance":"uncertain significance","external_id":"RCV003338068.2"},"description":"CILIARY DYSKINESIA, PRIMARY, 42","Variation":"rs2478515378","source":"ClinVar"},{"Variation":"rs369746640","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"ClinVar","attributes":{"associated_gene":"DNAH1","risk_allele":"A","external_id":"RCV002282489.1","clinical_significance":"likely pathogenic"},"location":"3:52363145-52363145","mapped_to_accession":"EFO:0003900"},{"location":"5:55222341-55222341","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"pathogenic","external_id":"RCV000983977.9","associated_gene":"MCIDAS","risk_allele":"T","MIM":"614086"},"Variation":"rs777031813","description":"CILIARY DYSKINESIA, PRIMARY, 42","source":"ClinVar"},{"attributes":{"external_id":"HGNC:12760"},"mapped_to_accession":"EFO:0003900","location":"21:39184176-39321559","source":"GenCC","Gene":"ENSG00000185658","description":"Ciliary dyskinesia, primary, 51"},{"StructuralVariation":"nsv6310192","location":"17:74299698-74301188","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"17:11902803-11902803","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005011004.1","associated_gene":"DNAH9","risk_allele":"A"},"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs377209537","source":"ClinVar"},{"location":"16:90022722-90027742","StructuralVariation":"nsv6309957","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 33","source":"dbVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs144547132","source":"ClinVar","location":"17:11937502-11937502","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV002272567.4","risk_allele":"T","associated_gene":"DNAH9"}},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7093047","location":"16:90032817-90032885"},{"source":"ClinVar","Variation":"rs1801174","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","attributes":{"risk_allele":"T","associated_gene":"TP73","external_id":"RCV003341574.1","clinical_significance":"benign"},"mapped_to_accession":"EFO:0003900","location":"1:3722110-3722110"},{"location":"5:55226673-55226681","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"likely benign","external_id":"RCV002490935.2","associated_gene":"MCIDAS"},"Variation":"rs771063151","description":"CILIARY DYSKINESIA, PRIMARY, 42","source":"ClinVar"},{"location":"16:75545912-75545912","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"pathogenic","external_id":"RCV001003227.1","associated_gene":"TMEM231","risk_allele":"C"},"description":"Ciliopathy","Variation":"rs1597041976","source":"ClinVar"},{"SupportingStructuralVariation":"nssv15770266","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"15:55430664-55432608"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs759947620","mapped_to_accession":"EFO:0003900","location":"3:52364848-52364848","attributes":{"external_id":"RCV002272713.2","clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"DNAH1"}},{"location":"16:87603147-90043345","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar","SupportingStructuralVariation":"nssv18788423"},{"Variation":"rs182049871","description":"Ciliary dyskinesia, primary, 48, without situs inversus","source":"ClinVar","location":"5:138115748-138115748","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"NME5","risk_allele":"T","MIM":"603575","external_id":"RCV002284165.4","clinical_significance":"likely pathogenic"}},{"description":"Ciliopathy","Gene":"ENSG00000146350","source":"GenCC","attributes":{"external_id":"HGNC:21485"},"location":"6:121079494-121334745","mapped_to_accession":"EFO:0003900"},{"location":"8:100162279-100162420","StructuralVariation":"nsv3877193","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar"},{"SupportingStructuralVariation":"nssv16297110","description":"CILIARY DYSKINESIA, PRIMARY, 3: CILD3","source":"dbVar","location":"5:13764772-13769751","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs1564805053","source":"ClinVar","location":"11:549999-549999","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"pathogenic","external_id":"RCV000735803.1","MIM":"618227","associated_gene":"LRRC56","risk_allele":"A"}},{"location":"2:26398038-26425785","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 21: CILD21","source":"dbVar","SupportingStructuralVariation":"nssv17517453"},{"description":"Ciliary dyskinesia, primary, 33","source":"dbVar","StructuralVariation":"nsv6310042","location":"16:90042450-90043345","mapped_to_accession":"EFO:0003900"},{"location":"19:55159042-55166668","StructuralVariation":"nsv3886554","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"17:74281807-74314271","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv15129821","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"17:19362533-19362533","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV005356892.1","clinical_significance":"uncertain significance","associated_gene":"LOC130060455,B9D1","risk_allele":"T"},"description":"Ciliopathy","Variation":"rs1485893157","source":"ClinVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 16: CILD16","source":"dbVar","SupportingStructuralVariation":"nssv18787792","location":"14:73687239-73689535","mapped_to_accession":"EFO:0003900"},{"StructuralVariation":"nsv7098525","location":"X:38291373-38291504","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"5:55226890-55226890","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"MCIDAS","risk_allele":"A","clinical_significance":"likely benign","external_id":"RCV003758807.1"},"Variation":"rs190259474","description":"CILIARY DYSKINESIA, PRIMARY, 42","source":"ClinVar"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 16: CILD16","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv3884232","location":"14:73671542-73671597"},{"mapped_to_accession":"EFO:0003900","location":"2:26444202-26444968","StructuralVariation":"nsv7096646","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"ClinVar","Variation":"rs760404211","description":"Ciliary dyskinesia, primary, 49, without situs inversus","attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV004723634.3","associated_gene":"CFAP74"},"mapped_to_accession":"EFO:0003900","location":"1:1938942-1938942"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"X:38310595-38323544","StructuralVariation":"nsv7098526","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv18791974","source":"dbVar","description":"Ciliary dyskinesia, primary, 33","mapped_to_accession":"EFO:0003900","location":"16:90022722-90040529"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","Variation":"rs775335375","mapped_to_accession":"EFO:0003900","location":"X:107238994-107238994","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV000681656.5","associated_gene":"DNAAF6","risk_allele":"T"}},{"attributes":{"risk_allele":"T","associated_gene":"DNAH9","external_id":"RCV001658369.3","clinical_significance":"benign"},"location":"17:11822020-11822020","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs117790039","source":"ClinVar"},{"attributes":{"risk_allele":"A","associated_gene":"GAS2L2","clinical_significance":"uncertain significance","external_id":"RCV005399204.1"},"mapped_to_accession":"EFO:0003900","location":"17:35745939-35745939","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 41","Variation":"rs140293881"},{"source":"ClinVar","Variation":"rs1567902051","description":"Ciliopathy","attributes":{"associated_gene":"RPGRIP1L","external_id":"RCV005250105.1","clinical_significance":"pathogenic"},"mapped_to_accession":"EFO:0003900","location":"16:53700658-53700660"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv5380713","location":"10:27812492-27961735","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23"},{"description":"CILIARY DYSKINESIA, PRIMARY, 25","source":"MIM morbid","Gene":"ENSG00000256061","attributes":{"external_id":"615482"},"location":"15:55410525-55508234","mapped_to_accession":"EFO:0003900"},{"attributes":{"associated_gene":"CFAP74","MIM":"620187","clinical_significance":"pathogenic","external_id":"RCV003152343.1"},"location":"1:1970798-1970799","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 49, without situs inversus","Variation":"rs1406976795","source":"ClinVar"},{"attributes":{"external_id":"HGNC:7853"},"location":"5:138114412-138139443","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 48, without situs inversus","Gene":"ENSG00000112981","source":"GenCC"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 33","SupportingStructuralVariation":"nssv17973445","mapped_to_accession":"EFO:0003900","location":"16:90042450-90043345"},{"StructuralVariation":"nsv5381097","location":"16:90022702-90043365","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 33","source":"dbVar"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16213463","location":"X:38269606-38421102","mapped_to_accession":"EFO:0003900"},{"Variation":"rs781563275","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","attributes":{"associated_gene":"DNAH9,LOC101928350","clinical_significance":"likely pathogenic","external_id":"RCV004790152.1"},"location":"17:11875073-11875073","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar","location":"16:90035613-90040529","StructuralVariation":"nsv6310140","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"5:55227016-55227016","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV002272187.3","associated_gene":"MCIDAS","risk_allele":"T"},"source":"ClinVar","Variation":"rs186341559","description":"CILIARY DYSKINESIA, PRIMARY, 42"},{"mapped_to_accession":"EFO:0003900","location":"3:180652143-180652286","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15130177"},{"mapped_to_accession":"EFO:0003900","location":"7:37894446-37897092","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 6: CILD6","SupportingStructuralVariation":"nssv18786838"},{"attributes":{"external_id":"HGNC:23700"},"mapped_to_accession":"EFO:0003900","location":"11:113314543-113383544","Gene":"ENSG00000149292","source":"GenCC","description":"CILIARY DYSKINESIA, PRIMARY, 45"},{"attributes":{"external_id":"608647"},"mapped_to_accession":"EFO:0003900","location":"16:70802084-71230735","source":"MIM morbid","Gene":"ENSG00000157423","description":"CILIARY DYSKINESIA, PRIMARY, 5"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13691964-13692155","StructuralVariation":"nsv3879198"},{"SupportingStructuralVariation":"nssv15771030","description":"Ciliary dyskinesia, primary, 28","source":"dbVar","location":"8:100187100-100187270","mapped_to_accession":"EFO:0003900"},{"location":"3:52356735-52356735","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV001332078.1","risk_allele":"A","associated_gene":"DNAH1"},"description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs748124296","source":"ClinVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv5672987","location":"17:74289584-74291143"},{"mapped_to_accession":"EFO:0003900","location":"5:13691984-13754358","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18791930"},{"mapped_to_accession":"EFO:0003900","location":"17:74281818-74314216","StructuralVariation":"nsv7094985","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6312030","location":"6:158111366-159693167","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 32: CILD32"},{"location":"1:3682346-3682346","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"TP73","risk_allele":"T","clinical_significance":"benign","external_id":"RCV003341573.1"},"Variation":"rs1801173","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","source":"ClinVar"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs141958775","attributes":{"risk_allele":"C","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV003146357.3"},"mapped_to_accession":"EFO:0003900","location":"17:11680739-11680739"},{"source":"ClinVar","Variation":"rs9892256","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11619765-11619765","attributes":{"external_id":"RCV001658342.3","clinical_significance":"benign","associated_gene":"DNAH9","risk_allele":"G"}},{"mapped_to_accession":"EFO:0003900","location":"17:35745290-35745290","attributes":{"external_id":"RCV003130986.3","clinical_significance":"uncertain significance","risk_allele":"A","associated_gene":"GAS2L2"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 41","Variation":"rs587600563"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs544674332","attributes":{"associated_gene":"DNAH1","risk_allele":"C","MIM":"603332","external_id":"RCV000495957.12","clinical_significance":"pathogenic"},"mapped_to_accession":"EFO:0003900","location":"3:52353613-52353613"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv7095419","location":"17:80097225-80099775","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7137047","location":"X:105822847-107243298"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs1331883139","source":"ClinVar","attributes":{"external_id":"RCV001375982.1","clinical_significance":"pathogenic","associated_gene":"DNAH9","risk_allele":"T"},"location":"17:11690056-11690056","mapped_to_accession":"EFO:0003900"},{"attributes":{"associated_gene":"DNAH9","risk_allele":"G","MIM":"603330","external_id":"RCV000754657.2","clinical_significance":"pathogenic"},"mapped_to_accession":"EFO:0003900","location":"17:11719422-11719422","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs1567747142"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","mapped_to_accession":"EFO:0003900","location":"16:90040280-90043345","StructuralVariation":"nsv7094950"},{"mapped_to_accession":"EFO:0003900","location":"X:38286179-38286180","SupportingStructuralVariation":"nssv18786166","source":"dbVar","description":"Ciliary dyskinesia"},{"SupportingStructuralVariation":"nssv15144842","description":"Ciliary dyskinesia","source":"dbVar","location":"19:55159042-55166668","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv6312277","location":"5:13809034-13810270","mapped_to_accession":"EFO:0003900"},{"location":"8:100182304-100184656","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar","SupportingStructuralVariation":"nssv15769795"},{"attributes":{"associated_gene":"STK36","MIM":"607652","external_id":"RCV001535817.1","clinical_significance":"pathogenic"},"mapped_to_accession":"EFO:0003900","location":"2:218688714-218688715","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 46","Variation":"rs763400883"},{"attributes":{"associated_gene":"LRRC56","clinical_significance":"uncertain significance","external_id":"RCV003447617.1"},"location":"11:540737-540739","mapped_to_accession":"EFO:0003900","Variation":"rs759014538","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar"},{"location":"2:119544167-119662251","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"279000"},"description":"CILIARY DYSKINESIA, PRIMARY, 55","source":"MIM morbid","Gene":"ENSG00000163075"},{"source":"ClinVar","Variation":"rs897951354","description":"CILIARY DYSKINESIA, PRIMARY, 40","attributes":{"associated_gene":"DNAH9","risk_allele":"A","clinical_significance":"uncertain significance","external_id":"RCV005010865.1"},"mapped_to_accession":"EFO:0003900","location":"17:11719427-11719427"},{"location":"5:13830078-13842859","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16213911"},{"mapped_to_accession":"EFO:0003900","location":"5:13864442-13864442","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17971918"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7097639","location":"7:726721-785653","source":"dbVar","description":"Ciliary dyskinesia"},{"attributes":{"risk_allele":"G","associated_gene":"CFAP300","clinical_significance":"likely pathogenic","external_id":"RCV004719413.1"},"mapped_to_accession":"EFO:0003900","location":"11:102066569-102066569","source":"ClinVar","Variation":"rs1050884832","description":"CILIARY DYSKINESIA, PRIMARY, 38"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"19:48318367-48318771","StructuralVariation":"nsv7095285","mapped_to_accession":"EFO:0003900"},{"attributes":{"associated_gene":"LOC126862506,DNAH9","risk_allele":"G","clinical_significance":"uncertain significance","external_id":"RCV005356377.1"},"location":"17:11699813-11699813","mapped_to_accession":"EFO:0003900","Variation":"rs1224122786","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"location":"6:38971572-38974549","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18791764"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4451570","location":"14:73671522-73671617","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 16: CILD16"},{"attributes":{"associated_gene":"DNAH9","clinical_significance":"likely pathogenic","external_id":"RCV005012699.1"},"location":"17:11822457-11822458","mapped_to_accession":"EFO:0003900","Variation":"rs749364709","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","Variation":"rs201509863","mapped_to_accession":"EFO:0003900","location":"1:3732939-3732939","attributes":{"risk_allele":"T","associated_gene":"TP73","external_id":"RCV003447832.1","clinical_significance":"uncertain significance"}},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv3873542","location":"10:27940403-27969505","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23"},{"description":"CILIARY DYSKINESIA, PRIMARY, 7: CILD7","source":"dbVar","location":"7:21612908-21617109","StructuralVariation":"nsv6315258","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"9:34489313-34489459","StructuralVariation":"nsv7097956","mapped_to_accession":"EFO:0003900"},{"location":"5:55218790-55227315","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:40050"},"description":"CILIARY DYSKINESIA, PRIMARY, 42","source":"GenCC","Gene":"ENSG00000234602"},{"Variation":"rs769795916","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","location":"17:11598800-11598806","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"DNAH9","external_id":"RCV002492127.4","clinical_significance":"pathogenic/likely pathogenic"}},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 46","Variation":"rs36099639","mapped_to_accession":"EFO:0003900","location":"2:218696533-218696533","attributes":{"associated_gene":"STK36","risk_allele":"G","clinical_significance":"likely benign","external_id":"RCV002489362.1"}},{"mapped_to_accession":"EFO:0003900","location":"7:21738641-21738690","SupportingStructuralVariation":"nssv18786146","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"16:90040280-90043345","StructuralVariation":"nsv7094950","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 33","source":"dbVar"},{"description":"Ciliary dyskinesia, primary, 28","source":"dbVar","SupportingStructuralVariation":"nssv15121497","location":"8:100151617-100163589","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"RCV002254410.5","clinical_significance":"uncertain significance","associated_gene":"STK36","risk_allele":"T"},"mapped_to_accession":"EFO:0003900","location":"2:218680698-218680698","source":"ClinVar","Variation":"rs2106349072","description":"CILIARY DYSKINESIA, PRIMARY, 46"},{"StructuralVariation":"nsv5672849","location":"16:84149001-84177846","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"2:195794453-195794453","attributes":{"MIM":"610061","associated_gene":"DNAH7","risk_allele":"C","clinical_significance":"pathogenic","external_id":"RCV003224830.1"},"source":"ClinVar","description":"Ciliary dyskinesia, primary, 50","Variation":"rs1696041485"},{"SupportingStructuralVariation":"nssv17971856","description":"Ciliary dyskinesia","source":"dbVar","location":"7:21784407-21789362","mapped_to_accession":"EFO:0003900"},{"Variation":"rs3740652","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar","attributes":{"clinical_significance":"benign","external_id":"RCV001730901.2","associated_gene":"LRRC56","risk_allele":"C"},"location":"HSCHR11_1_CTG8:82187-82187","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv5673512","location":"5:13917137-13919358","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"2:26401970-26421420","StructuralVariation":"nsv3879550","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"HGNC:1307"},"mapped_to_accession":"EFO:0003900","location":"22:38656375-38673920","Gene":"ENSG00000100211","source":"GenCC","description":"Ciliopathy"},{"attributes":{"external_id":"HGNC:28396"},"location":"8:93754840-93819234","mapped_to_accession":"EFO:0003900","description":"Ciliopathy","Gene":"ENSG00000164953","source":"GenCC"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs757909623","attributes":{"associated_gene":"DNAH9","risk_allele":"T","external_id":"RCV003148131.2","clinical_significance":"uncertain significance"},"mapped_to_accession":"EFO:0003900","location":"17:11680729-11680729"},{"Variation":"rs1598372878","description":"CILIARY DYSKINESIA, PRIMARY, 43","source":"ClinVar","attributes":{"clinical_significance":"pathogenic","external_id":"RCV000983975.3","associated_gene":"FOXJ1","risk_allele":"A","MIM":"602291"},"location":"17:76137793-76137793","mapped_to_accession":"EFO:0003900"},{"location":"1:3727346-3739337","StructuralVariation":"nsv6290007","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","source":"dbVar"},{"location":"5:13931100-13931254","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17172525","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"17:11929909-11929909","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"likely benign","external_id":"RCV002494022.1","risk_allele":"T","associated_gene":"DNAH9"},"Variation":"rs111574749","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"3:49829103-50503423","SupportingStructuralVariation":"nssv18791340","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia, primary, 33","source":"dbVar","StructuralVariation":"nsv7093047","location":"16:90032817-90032885","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"RCV003389344.1","clinical_significance":"pathogenic","MIM":"620279","associated_gene":"DAW1","risk_allele":"A"},"mapped_to_accession":"EFO:0003900","location":"2:227889939-227889939","source":"ClinVar","Variation":"rs747333172","description":"Ciliary dyskinesia, primary, 52"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18789013","mapped_to_accession":"EFO:0003900","location":"X:38322833-38323544"},{"attributes":{"risk_allele":"T","associated_gene":"DNAH9","external_id":"RCV001662395.3","clinical_significance":"benign"},"location":"17:11608140-11608140","mapped_to_accession":"EFO:0003900","Variation":"rs11078022","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"5:138114412-138139443","attributes":{"external_id":"620032"},"Gene":"ENSG00000112981","source":"MIM morbid","description":"Ciliary dyskinesia, primary, 48, without situs inversus"},{"StructuralVariation":"nsv5673659","location":"5:13791984-13794068","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliary dyskinesia, primary, 50","Variation":"rs2469365553","source":"ClinVar","location":"2:195809744-195809744","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"T","associated_gene":"DNAH7","clinical_significance":"likely pathogenic","external_id":"RCV003989242.3"}},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 41","Variation":"rs146187323","attributes":{"risk_allele":"T","associated_gene":"GAS2L2","external_id":"RCV005015105.1","clinical_significance":"uncertain significance"},"mapped_to_accession":"EFO:0003900","location":"17:35745717-35745717"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17972431","location":"17:74299698-74301188","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"5:55220382-55220382","attributes":{"risk_allele":"T","associated_gene":"MCIDAS","MIM":"614086","clinical_significance":"pathogenic","external_id":"RCV000983978.9"},"source":"ClinVar","Variation":"rs797045152","description":"CILIARY DYSKINESIA, PRIMARY, 42"},{"attributes":{"risk_allele":"A","associated_gene":"LRRC56","external_id":"RCV001730939.2","clinical_significance":"benign"},"location":"11:551235-551235","mapped_to_accession":"EFO:0003900","Variation":"rs35537971","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar"},{"source":"ClinVar","Variation":"rs10902172","description":"CILIARY DYSKINESIA, PRIMARY, 39","attributes":{"clinical_significance":"benign","external_id":"RCV001730927.2","risk_allele":"G","associated_gene":"LRRC56"},"mapped_to_accession":"EFO:0003900","location":"HSCHR11_1_CTG8:83939-83939"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 32: CILD32","mapped_to_accession":"EFO:0003900","location":"6:158993819-158993946","StructuralVariation":"nsv6312567"},{"mapped_to_accession":"EFO:0003900","location":"6:38722810-38730006","StructuralVariation":"nsv6312038","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"ClinVar","Variation":"rs723077","description":"CILIARY DYSKINESIA, PRIMARY, 45","mapped_to_accession":"EFO:0003900","location":"11:113323446-113323446","attributes":{"associated_gene":"TTC12","risk_allele":"C","clinical_significance":"benign","external_id":"RCV001840823.2"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 3: CILD3","source":"dbVar","location":"5:13844602-13845345","StructuralVariation":"nsv4685741","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs12793222","source":"ClinVar","attributes":{"clinical_significance":"benign","external_id":"RCV001730908.2","risk_allele":"A","associated_gene":"LRRC56"},"location":"11:554047-554047","mapped_to_accession":"EFO:0003900"},{"location":"2:227893834-227893834","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV003389342.1","clinical_significance":"pathogenic","associated_gene":"DAW1","risk_allele":"A","MIM":"620279"},"description":"Ciliary dyskinesia, primary, 52","Variation":"rs2106197058","source":"ClinVar"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 37: CILD37","SupportingStructuralVariation":"nssv16867233","mapped_to_accession":"EFO:0003900","location":"3:52322423-52332414"},{"location":"8:100162279-100162420","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv15129848","description":"Ciliary dyskinesia, primary, 28","source":"dbVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"17:80097225-80099795","StructuralVariation":"nsv3886634"},{"SupportingStructuralVariation":"nssv18790715","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"9:34483428-34520756"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"X:38317296-38355827","StructuralVariation":"nsv7098658","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs61744697","attributes":{"external_id":"RCV003147818.1","clinical_significance":"uncertain significance","risk_allele":"A","associated_gene":"DNAH9"},"mapped_to_accession":"EFO:0003900","location":"17:11769290-11769290"},{"StructuralVariation":"nsv3873246","location":"8:100151617-100163589","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 30: CILD30","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4682192","location":"19:11430679-11435036"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"7:21739663-21740316","StructuralVariation":"nsv6312537","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"7:754569-785653","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17972037"},{"source":"ClinVar","description":"Ciliopathy","Variation":"rs886038205","mapped_to_accession":"EFO:0003900","location":"17:19343795-19343795","attributes":{"risk_allele":"T","associated_gene":"B9D1","clinical_significance":"uncertain significance","external_id":"RCV005361490.1"}},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003132271.4","associated_gene":"MCIDAS","risk_allele":"A"},"mapped_to_accession":"EFO:0003900","location":"5:55220484-55220484","source":"ClinVar","Variation":"rs561481156","description":"CILIARY DYSKINESIA, PRIMARY, 42"},{"description":"Ciliary dyskinesia, primary, 50","Variation":"rs371925699","source":"ClinVar","attributes":{"risk_allele":"A","associated_gene":"DNAH7","external_id":"RCV005412675.1","clinical_significance":"likely pathogenic"},"location":"2:195957314-195957314","mapped_to_accession":"EFO:0003900"},{"location":"HSCHR11_1_CTG8:80801-80801","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"likely benign","external_id":"RCV002498246.1","associated_gene":"LRRC56","risk_allele":"A"},"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs138291757","source":"ClinVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs143732515","source":"ClinVar","attributes":{"clinical_significance":"likely benign","external_id":"RCV002505865.1","associated_gene":"DNAH9","risk_allele":"T"},"location":"17:11744982-11744982","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv7095224","location":"19:55132915-55166648","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv5673139","location":"17:74301036-74305452","mapped_to_accession":"EFO:0003900"},{"location":"7:21735620-21750384","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv15144803","description":"Ciliary dyskinesia","source":"dbVar"},{"SupportingStructuralVariation":"nssv15130178","description":"Ciliary dyskinesia","source":"dbVar","location":"17:74281798-74314236","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6309547","location":"14:49583667-49651397","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","location":"4:15480781-15480781","attributes":{"risk_allele":"A","associated_gene":"CC2D2A","external_id":"RCV005356178.1","clinical_significance":"uncertain significance"},"source":"ClinVar","Variation":"rs1714586913","description":"Ciliopathy"},{"StructuralVariation":"nsv7094344","location":"14:73687239-73689535","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 16: CILD16","source":"dbVar"},{"location":"16:90032817-90032885","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 33","source":"dbVar","SupportingStructuralVariation":"nssv18786003"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"GenCC","Gene":"ENSG00000007174","attributes":{"external_id":"HGNC:2953"},"location":"17:11598457-11969748","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv16867233","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"dbVar","location":"3:52322423-52332414","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"16:84145260-84177918","StructuralVariation":"nsv1398074","mapped_to_accession":"EFO:0003900"},{"attributes":{"risk_allele":"G","associated_gene":"CFAP300","external_id":"RCV001554496.3","clinical_significance":"benign"},"mapped_to_accession":"EFO:0003900","location":"11:102047596-102047596","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 38","Variation":"rs12804542"},{"Variation":"rs201246193","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","attributes":{"associated_gene":"DNAH9,LOC101928350","risk_allele":"T","external_id":"RCV002500348.1","clinical_significance":"likely benign"},"location":"17:11883632-11883632","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv15143918","description":"Ciliary dyskinesia","source":"dbVar","location":"5:13691964-13692155","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"6:38971572-38974549","StructuralVariation":"nsv7097329","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"7:21698055-21765609","StructuralVariation":"nsv3880347"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs4963198","source":"ClinVar","attributes":{"external_id":"RCV001730876.2","clinical_significance":"benign","risk_allele":"A","associated_gene":"LRRC56"},"location":"11:551753-551753","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"7:21681526-21745083","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv16213998"},{"Variation":"rs762878900","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","location":"17:11969310-11969310","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"C","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV003989793.3"}},{"mapped_to_accession":"EFO:0003900","location":"3:52349233-52349233","attributes":{"risk_allele":"A","associated_gene":"DNAH1","external_id":"RCV003458671.1","clinical_significance":"uncertain significance"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs763577633"},{"location":"3:52356692-52356692","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV001650493.2","clinical_significance":"likely pathogenic","associated_gene":"DNAH1","risk_allele":"T"},"Variation":"rs1415820936","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"ClinVar"},{"location":"3:27106484-27369460","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"618781"},"description":"CILIARY DYSKINESIA, PRIMARY, 44","Gene":"ENSG00000163491","source":"MIM morbid"},{"location":"1:3729449-3729449","mapped_to_accession":"EFO:0003900","attributes":{"MIM":"601990","risk_allele":"A","associated_gene":"TP73","clinical_significance":"pathogenic","external_id":"RCV001553811.1"},"description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","Variation":"rs2124533497","source":"ClinVar"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17975197","location":"7:20954872-23174298","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7093312","location":"X:38286179-38286180"},{"StructuralVariation":"nsv3889331","location":"7:21570049-21591597","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"attributes":{"associated_gene":"CFAP300","risk_allele":"CC","MIM":"618058","external_id":"RCV000664437.3","clinical_significance":"pathogenic"},"mapped_to_accession":"EFO:0003900","location":"11:102058885-102058887","source":"ClinVar","Variation":"rs1555069023","description":"CILIARY DYSKINESIA, PRIMARY, 38"},{"location":"X:38273366-38304810","StructuralVariation":"nsv7098523","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"attributes":{"external_id":"HGNC:2940"},"mapped_to_accession":"EFO:0003900","location":"3:52316319-52400492","Gene":"ENSG00000114841","source":"GenCC","description":"CILIARY DYSKINESIA, PRIMARY, 37"},{"location":"5:13864387-13868002","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv16212272","description":"Ciliary dyskinesia","source":"dbVar"},{"attributes":{"external_id":"RCV003130567.3","clinical_significance":"uncertain significance","associated_gene":"LRRC56","risk_allele":"C"},"location":"HSCHR11_1_CTG8:81466-81466","mapped_to_accession":"EFO:0003900","Variation":"rs199784204","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar"},{"Variation":"rs365048","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"ClinVar","location":"3:52396682-52396682","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"DNAH1","clinical_significance":"benign","external_id":"RCV001662391.3"}},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 33","SupportingStructuralVariation":"nssv16867262","mapped_to_accession":"EFO:0003900","location":"16:90022702-90043365"},{"SupportingStructuralVariation":"nssv15129363","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"7:21683764-21683964"},{"attributes":{"associated_gene":"LRRC56","risk_allele":"A","external_id":"RCV003130692.3","clinical_significance":"uncertain significance"},"location":"11:552678-552678","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs149919024","source":"ClinVar"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18791293","location":"9:32453281-37785044","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv6311749","location":"5:13716477-13721255","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia, primary, 50","Gene":"ENSG00000118997","source":"MIM morbid","attributes":{"external_id":"620356"},"location":"2:195737524-196068848","mapped_to_accession":"EFO:0003900"},{"attributes":{"clinical_significance":"pathogenic","external_id":"RCV000735804.1","associated_gene":"LRRC56","risk_allele":"C","MIM":"618227"},"mapped_to_accession":"EFO:0003900","location":"HSCHR11_1_CTG8:79634-79634","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs1564805039"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 28","SupportingStructuralVariation":"nssv17972388","mapped_to_accession":"EFO:0003900","location":"8:100162281-100162440"},{"SupportingStructuralVariation":"nssv17971345","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 32: CILD32","mapped_to_accession":"EFO:0003900","location":"6:158993819-158993946"},{"SupportingStructuralVariation":"nssv18791935","description":"Ciliary dyskinesia","source":"dbVar","location":"5:13791993-14184175","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv16213660","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"17:74299708-74305452"},{"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000119977","location":"10:95659823-95694143","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:24519"}},{"location":"17:76137897-76137897","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"G","associated_gene":"FOXJ1","external_id":"RCV003990768.3","clinical_significance":"uncertain significance"},"Variation":"rs2509838708","description":"CILIARY DYSKINESIA, PRIMARY, 43","source":"ClinVar"},{"description":"Ciliopathy","Gene":"ENSG00000157796","source":"GenCC","location":"4:39182463-39285810","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:18340"}},{"mapped_to_accession":"EFO:0003900","location":"15:55439472-55439581","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15124062"},{"mapped_to_accession":"EFO:0003900","location":"17:74301036-74305452","SupportingStructuralVariation":"nssv17172112","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv15144445","location":"5:13768960-13794058","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Primary Ciliary Dyskinesia 1","SupportingStructuralVariation":"nssv18330641","mapped_to_accession":"EFO:0003900","location":"2:26412619-26418737"},{"mapped_to_accession":"EFO:0003900","location":"19:48296976-48306343","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18788106"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","SupportingStructuralVariation":"nssv18791973","mapped_to_accession":"EFO:0003900","location":"16:90040280-90043345"},{"SupportingStructuralVariation":"nssv15771021","description":"CILIARY DYSKINESIA, PRIMARY, 32: CILD32","source":"dbVar","location":"6:158980754-158986441","mapped_to_accession":"EFO:0003900"},{"Variation":"rs1555354198","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","attributes":{"external_id":"RCV004813105.2","clinical_significance":"pathogenic","risk_allele":"ACAACA","associated_gene":"SRP54"},"location":"14:35007369-35007378","mapped_to_accession":"EFO:0003900"},{"location":"3:52353413-52353413","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"DNAH1","external_id":"RCV001330879.2","clinical_significance":"uncertain significance"},"Variation":"rs145381093","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"ClinVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13729429-13770990","StructuralVariation":"nsv5673579"},{"attributes":{"risk_allele":"T","associated_gene":"DNAH1","clinical_significance":"likely pathogenic","external_id":"RCV003493276.1"},"location":"3:52349035-52349035","mapped_to_accession":"EFO:0003900","Variation":"rs375839622","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"ClinVar"},{"attributes":{"external_id":"RCV004790153.1","clinical_significance":"uncertain significance","associated_gene":"DNAH9,LOC101928350","risk_allele":"C"},"mapped_to_accession":"EFO:0003900","location":"17:11880094-11880094","source":"ClinVar","Variation":"rs527436840","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"attributes":{"external_id":"HGNC:26383"},"location":"2:227870931-227924344","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 52","source":"GenCC","Gene":"ENSG00000123977"},{"SupportingStructuralVariation":"nssv15145166","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","mapped_to_accession":"EFO:0003900","location":"16:90042450-90043365"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"3:180651381-180651553","StructuralVariation":"nsv3871380","mapped_to_accession":"EFO:0003900"},{"attributes":{"associated_gene":"STK36","risk_allele":"T","external_id":"RCV005356850.1","clinical_significance":"likely pathogenic"},"location":"2:218697214-218697214","mapped_to_accession":"EFO:0003900","Variation":"rs868718397","description":"CILIARY DYSKINESIA, PRIMARY, 46","source":"ClinVar"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv7097511","location":"5:13931090-13931264","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv17172757","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"17:74286967-74287108"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs201091147","source":"ClinVar","attributes":{"risk_allele":"A","associated_gene":"LRRC56","clinical_significance":"likely benign","external_id":"RCV002486804.1"},"location":"11:550063-550063","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"5:13768950-13794068","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17973073"},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003983042.3","associated_gene":"CEP83","risk_allele":"A"},"location":"12:94368132-94368132","mapped_to_accession":"EFO:0003900","description":"Ciliopathy","Variation":"rs200971081","source":"ClinVar"},{"source":"ClinVar","Variation":"rs145738103","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11875166-11875166","attributes":{"risk_allele":"G","associated_gene":"DNAH9,LOC101928350","external_id":"RCV003147710.3","clinical_significance":"uncertain significance"}},{"location":"6:38722810-38730006","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17972538"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv15144464","location":"17:74299698-74305462","mapped_to_accession":"EFO:0003900"},{"location":"7:33109557-33877180","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:30000"},"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000122507"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"16:84159655-84159816","StructuralVariation":"nsv7094698","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs11246180","source":"ClinVar","location":"HSCHR11_1_CTG8:79668-79668","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"benign","external_id":"RCV001730947.2","associated_gene":"LRRC56","risk_allele":"G"}},{"attributes":{"risk_allele":"G","associated_gene":"CFAP300","MIM":"618058","clinical_significance":"pathogenic","external_id":"RCV000664433.1"},"location":"11:102083171-102083171","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 38","Variation":"rs1555071691","source":"ClinVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23","source":"dbVar","SupportingStructuralVariation":"nssv16866933","location":"10:27812492-27812645","mapped_to_accession":"EFO:0003900"},{"location":"11:540719-540719","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"benign","external_id":"RCV002500017.1","associated_gene":"LRRC56","risk_allele":"A"},"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs2277269","source":"ClinVar"},{"Variation":"rs1472467905","description":"Ciliary dyskinesia, primary, 51","source":"ClinVar","attributes":{"MIM":"617824","risk_allele":"A","associated_gene":"BRWD1","external_id":"RCV003237322.2","clinical_significance":"pathogenic"},"location":"21:39295829-39295829","mapped_to_accession":"EFO:0003900"},{"location":"7:21655812-21656001","StructuralVariation":"nsv4682338","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"StructuralVariation":"nsv7137083","location":"17:80085785-80092148","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 15: CILD15","source":"dbVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Gene":"ENSG00000007174","source":"MIM morbid","attributes":{"external_id":"618300"},"location":"17:11598457-11969748","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18791928","location":"5:13823253-13944448","mapped_to_accession":"EFO:0003900"},{"attributes":{"associated_gene":"CFAP300","risk_allele":"C","external_id":"RCV001554497.3","clinical_significance":"benign"},"mapped_to_accession":"EFO:0003900","location":"11:102047955-102047955","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 38","Variation":"rs7934495"},{"mapped_to_accession":"EFO:0003900","location":"HSCHR11_1_CTG8:79782-79782","attributes":{"risk_allele":"C","associated_gene":"LRRC56","external_id":"RCV003989030.4","clinical_significance":"likely pathogenic"},"source":"ClinVar","Variation":"rs1852307190","description":"CILIARY DYSKINESIA, PRIMARY, 39"},{"source":"ClinVar","Variation":"rs368962919","description":"Ciliary dyskinesia, primary, 50","attributes":{"risk_allele":"C","associated_gene":"DNAH7","clinical_significance":"uncertain significance","external_id":"RCV003990325.3"},"mapped_to_accession":"EFO:0003900","location":"2:195873634-195873634"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs764245230","mapped_to_accession":"EFO:0003900","location":"3:27202466-27202466","attributes":{"external_id":"RCV003989019.4","clinical_significance":"likely pathogenic","risk_allele":"A","associated_gene":"NEK10"}},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 28","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv3873246","location":"8:100151617-100163589"},{"mapped_to_accession":"EFO:0003900","location":"5:13817538-13820509","SupportingStructuralVariation":"nssv17171770","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","location":"16:84148987-84150362","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15770912"},{"attributes":{"external_id":"HGNC:17209"},"location":"2:218672027-218702717","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 46","Gene":"ENSG00000163482","source":"GenCC"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6310242","location":"17:80065465-80065626","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"CILIARY DYSKINESIA, PRIMARY, 43","Variation":"rs755963178","source":"ClinVar","attributes":{"risk_allele":"C","associated_gene":"LOC130061708,FOXJ1","clinical_significance":"uncertain significance","external_id":"RCV005022767.1"},"location":"17:76140379-76140379","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv15144270","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"2:26401970-26421420"},{"location":"5:13727487-13777375","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv15129246","description":"Ciliary dyskinesia","source":"dbVar"},{"SupportingStructuralVariation":"nssv18790236","description":"Ciliary dyskinesia","source":"dbVar","location":"16:84159655-84159816","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7093570","location":"X:38286059-38286059","source":"dbVar","description":"Ciliary dyskinesia"},{"Variation":"rs778538874","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","location":"17:11694353-11694353","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"DNAH9","risk_allele":"G","external_id":"RCV001784150.1","clinical_significance":"uncertain significance"}},{"mapped_to_accession":"EFO:0003900","location":"5:13791984-13944448","StructuralVariation":"nsv4452221","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"16:90040280-90043345","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 33","source":"dbVar","SupportingStructuralVariation":"nssv18791973"},{"mapped_to_accession":"EFO:0003900","location":"7:20954872-22991111","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18791878"},{"location":"10:27981131-27986391","StructuralVariation":"nsv3873913","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23","source":"dbVar"},{"location":"5:13931090-13931264","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18791933"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4683688","location":"5:13830078-13842859","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 45","Variation":"rs199526774","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003326094.1","risk_allele":"G","associated_gene":"TTC12"},"mapped_to_accession":"EFO:0003900","location":"11:113363912-113363912"},{"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000122970","location":"12:110124314-110218795","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:14313"}},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17172393","mapped_to_accession":"EFO:0003900","location":"7:21571855-21572919"},{"location":"17:11875128-11875128","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"likely benign","external_id":"RCV002486900.3","associated_gene":"DNAH9,LOC101928350","risk_allele":"G"},"Variation":"rs372078743","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"5:13824193-13830781","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17172536"},{"attributes":{"external_id":"RCV001553813.1","clinical_significance":"pathogenic","MIM":"601990","associated_gene":"TP73"},"mapped_to_accession":"EFO:0003900","location":"1:3731040-3731040","source":"ClinVar","Variation":"rs2124544212","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"17:74281807-74314271","StructuralVariation":"nsv3882365"},{"location":"17:11891840-11891840","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV005254893.2","clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"DNAH9"},"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs3760436","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv3875477","location":"17:74281798-74314236","source":"dbVar","description":"Ciliary dyskinesia"},{"Variation":"rs372068387","description":"CILIARY DYSKINESIA, PRIMARY, 37","source":"ClinVar","location":"3:52384918-52384918","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005365600.1","risk_allele":"A","associated_gene":"DNAH1"}},{"SupportingStructuralVariation":"nssv16214313","description":"Ciliary dyskinesia","source":"dbVar","location":"7:21710533-21711880","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","description":"Ciliary dyskinesia, primary, 50","Variation":"rs2469221804","attributes":{"external_id":"RCV003991675.3","clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"DNAH7"},"mapped_to_accession":"EFO:0003900","location":"2:195777893-195777893"},{"attributes":{"associated_gene":"B9D1","risk_allele":"T","external_id":"RCV005367354.1","clinical_significance":"likely benign"},"mapped_to_accession":"EFO:0003900","location":"17:19343542-19343542","source":"ClinVar","description":"Ciliopathy","Variation":"rs145712777"},{"description":"CILIARY DYSKINESIA, PRIMARY, 46","Variation":"rs537610210","source":"ClinVar","attributes":{"risk_allele":"A","associated_gene":"STK36","clinical_significance":"uncertain significance","external_id":"RCV002254416.5"},"location":"2:218699187-218699187","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"5:13894640-13917266","StructuralVariation":"nsv6312280","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv17976698","description":"CILIARY DYSKINESIA, PRIMARY, 7: CILD7","source":"dbVar","location":"7:21612908-21617109","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv3874989","location":"5:13923280-13923440","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv3887660","location":"17:80058474-80059000","mapped_to_accession":"EFO:0003900"},{"location":"17:11747613-11747613","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV003146259.3","clinical_significance":"uncertain significance","risk_allele":"A","associated_gene":"DNAH9"},"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs542367185","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"16:90022722-90027742","StructuralVariation":"nsv6309957","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33"},{"description":"Ciliary dyskinesia, primary, 28","source":"dbVar","StructuralVariation":"nsv4454499","location":"8:100187100-100187270","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"7:21710533-21711880","StructuralVariation":"nsv4681197","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs541693633","description":"Ciliary dyskinesia, primary, 52","attributes":{"clinical_significance":"pathogenic","external_id":"RCV003389343.1","risk_allele":"C","associated_gene":"DAW1","MIM":"620279"},"mapped_to_accession":"EFO:0003900","location":"2:227921439-227921439"},{"location":"15:55437070-55440618","StructuralVariation":"nsv4716478","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 25: CILD25","source":"dbVar"},{"Variation":"rs201502401","description":"Ciliopathy","source":"ClinVar","attributes":{"risk_allele":"T","associated_gene":"CC2D2A","external_id":"RCV005365132.1","clinical_significance":"pathogenic"},"location":"4:15599699-15599699","mapped_to_accession":"EFO:0003900"},{"Variation":"rs763132585","description":"Ciliopathy","source":"ClinVar","attributes":{"external_id":"RCV005361864.1","clinical_significance":"likely pathogenic","associated_gene":"LOC130004408,TCTN3"},"location":"10:95693718-95693719","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"16:84149001-84177846","SupportingStructuralVariation":"nssv17171855","source":"dbVar","description":"Ciliary dyskinesia"},{"attributes":{"external_id":"HGNC:2954"},"mapped_to_accession":"EFO:0003900","location":"9:34457414-34520988","Gene":"ENSG00000122735","source":"GenCC","description":"Primary Ciliary Dyskinesia 1"},{"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000107882","location":"10:102503952-102633535","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:16466"}},{"Variation":"rs578234038","description":"Ciliary dyskinesia, primary, 49, without situs inversus","source":"ClinVar","location":"1:1923783-1923786","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"AGAGAG","associated_gene":"CFAP74","MIM":"620187","clinical_significance":"likely pathogenic","external_id":"RCV003152342.2"}},{"StructuralVariation":"nsv6310234","location":"17:74286971-74287104","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"17:74299708-74312970","StructuralVariation":"nsv6310193","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4681217","location":"17:74309243-74310173","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"3:180679271-180679380","StructuralVariation":"nsv6311449","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 46","Variation":"rs559686721","mapped_to_accession":"EFO:0003900","location":"2:218692294-218692294","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003138846.3","risk_allele":"A","associated_gene":"STK36"}},{"StructuralVariation":"nsv6309933","location":"16:84145441-84159816","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"attributes":{"external_id":"HGNC:24123"},"mapped_to_accession":"EFO:0003900","location":"17:19334308-19378193","source":"GenCC","Gene":"ENSG00000108641","description":"Ciliopathy"},{"mapped_to_accession":"EFO:0003900","location":"15:55439472-55439581","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 25: CILD25","SupportingStructuralVariation":"nssv18792877"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 43","Variation":"rs202087312","attributes":{"associated_gene":"FOXJ1","risk_allele":"T","external_id":"RCV002466875.2","clinical_significance":"likely benign"},"mapped_to_accession":"EFO:0003900","location":"17:76137604-76137604"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 28","mapped_to_accession":"EFO:0003900","location":"8:100162261-100162440","StructuralVariation":"nsv3877323"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 33","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7095127","location":"16:90027616-90043345"},{"description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar","SupportingStructuralVariation":"nssv18790161","location":"8:100177796-100241022","mapped_to_accession":"EFO:0003900"},{"attributes":{"clinical_significance":"likely benign","external_id":"RCV002486804.1","associated_gene":"LRRC56","risk_allele":"A"},"location":"HSCHR11_1_CTG8:79703-79703","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs201091147","source":"ClinVar"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 38","Variation":"rs754773453","mapped_to_accession":"EFO:0003900","location":"11:102066649-102066649","attributes":{"associated_gene":"CFAP300","risk_allele":"T","MIM":"618058","external_id":"RCV000664436.1","clinical_significance":"pathogenic"}},{"attributes":{"risk_allele":"T","associated_gene":"STK36","clinical_significance":"benign","external_id":"RCV002503004.1"},"mapped_to_accession":"EFO:0003900","location":"2:218699084-218699084","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 46","Variation":"rs2241528"},{"source":"ClinVar","description":"Ciliary dyskinesia, primary, 53","Variation":"rs1803178017","attributes":{"MIM":"619564","risk_allele":"A","associated_gene":"CLXN","external_id":"RCV003445284.2","clinical_significance":"likely pathogenic"},"mapped_to_accession":"EFO:0003900","location":"8:48729824-48729824"},{"SupportingStructuralVariation":"nssv18790237","description":"Ciliary dyskinesia","source":"dbVar","location":"16:84154557-84170376","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6636048","location":"2:26412619-26418737","source":"dbVar","description":"Primary Ciliary Dyskinesia 1"},{"mapped_to_accession":"EFO:0003900","location":"2:26440358-26444376","StructuralVariation":"nsv4451560","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6310191","location":"17:74285020-74287118"},{"location":"21:42472818-42472890","StructuralVariation":"nsv6311067","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"X:38286093-38286194","StructuralVariation":"nsv7093093","mapped_to_accession":"EFO:0003900"},{"attributes":{"MIM":"611398","associated_gene":"GAS2L2","clinical_significance":"uncertain significance","external_id":"RCV000781927.5"},"mapped_to_accession":"EFO:0003900","location":"17:35747211-35747217","source":"ClinVar","Variation":"rs587633197","description":"CILIARY DYSKINESIA, PRIMARY, 41"},{"source":"ClinVar","Variation":"rs3213930","description":"CILIARY DYSKINESIA, PRIMARY, 44","attributes":{"clinical_significance":"benign","external_id":"RCV001785430.2","risk_allele":"C","associated_gene":"NEK10"},"mapped_to_accession":"EFO:0003900","location":"3:27256325-27256325"},{"mapped_to_accession":"EFO:0003900","location":"3:180661841-180662027","SupportingStructuralVariation":"nssv15129182","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"20:32277627-32335011","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:6320"},"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000101350"},{"location":"7:21655812-21656001","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv16213328","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"5:13923270-13923450","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17970796"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs1564800859","source":"ClinVar","location":"11:544781-544781","mapped_to_accession":"EFO:0003900","attributes":{"MIM":"618227","risk_allele":"A","associated_gene":"LRRC56","external_id":"RCV000735806.1","clinical_significance":"pathogenic"}},{"mapped_to_accession":"EFO:0003900","location":"16:90035613-90043365","SupportingStructuralVariation":"nssv16212085","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33"},{"location":"16:90022722-90040529","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv18791974","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar"},{"attributes":{"risk_allele":"A","associated_gene":"DNAH1","clinical_significance":"benign","external_id":"RCV001662389.3"},"mapped_to_accession":"EFO:0003900","location":"3:52396510-52396510","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs12163565"},{"mapped_to_accession":"EFO:0003900","location":"17:11871737-11871737","attributes":{"associated_gene":"DNAH9","risk_allele":"T","MIM":"603330","external_id":"RCV000754654.1","clinical_significance":"pathogenic"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs763238622"},{"attributes":{"risk_allele":"A","associated_gene":"DNAH9","MIM":"603330","external_id":"RCV000754657.2","clinical_significance":"pathogenic"},"mapped_to_accession":"EFO:0003900","location":"17:11822481-11822481","source":"ClinVar","Variation":"rs375908701","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 33","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7094948","location":"16:90022722-90040529"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"5:13791974-13944458","StructuralVariation":"nsv4681443","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"RCV005430833.1","clinical_significance":"likely pathogenic","associated_gene":"DNAH1","risk_allele":"T"},"location":"3:52370814-52370814","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs752298977","source":"ClinVar"},{"location":"5:55231375-55233523","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17972822"},{"description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar","SupportingStructuralVariation":"nssv18791972","location":"16:90027616-90032944","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"7:21570049-21591597","SupportingStructuralVariation":"nssv15129169","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"HSCHR11_1_CTG8:82318-82318","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"LRRC56","risk_allele":"A","external_id":"RCV003130692.3","clinical_significance":"uncertain significance"},"Variation":"rs149919024","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"17:80097245-80100613","StructuralVariation":"nsv3889816","mapped_to_accession":"EFO:0003900"},{"attributes":{"clinical_significance":"pathogenic","external_id":"RCV000754655.1","associated_gene":"DNAH9","risk_allele":"G","MIM":"603330"},"mapped_to_accession":"EFO:0003900","location":"17:11821918-11821918","source":"ClinVar","Variation":"rs143007518","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"mapped_to_accession":"EFO:0003900","location":"16:90035613-90040529","StructuralVariation":"nsv6310140","source":"dbVar","description":"Ciliary dyskinesia, primary, 33"},{"mapped_to_accession":"EFO:0003900","location":"16:84147095-84152470","StructuralVariation":"nsv5672598","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 13: CILD13"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"5:13931100-13931254","StructuralVariation":"nsv5673756","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"5:13716477-13721255","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17972184"},{"attributes":{"external_id":"HGNC:28188"},"mapped_to_accession":"EFO:0003900","location":"11:102047402-102085137","source":"GenCC","Gene":"ENSG00000137691","description":"CILIARY DYSKINESIA, PRIMARY, 38"},{"Gene":"ENSG00000163638","source":"GenCC","description":"Ciliopathy","mapped_to_accession":"EFO:0003900","location":"3:64515652-64688264","attributes":{"external_id":"HGNC:13202"}},{"source":"ClinVar","Variation":"rs547913025","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11930035-11930035","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003159580.2","associated_gene":"DNAH9","risk_allele":"G"}},{"attributes":{"clinical_significance":"pathogenic","external_id":"RCV000983974.1","MIM":"602291","associated_gene":"FOXJ1"},"location":"17:76137748-76137751","mapped_to_accession":"EFO:0003900","Variation":"rs1598372841","description":"CILIARY DYSKINESIA, PRIMARY, 43","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4452567","location":"8:100182304-100184656","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28"},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005044196.1","associated_gene":"CFAP300","risk_allele":"C"},"mapped_to_accession":"EFO:0003900","location":"11:102047510-102047510","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 38","Variation":"rs1055410333"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 25: CILD25","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7099025","location":"15:55439472-55439581"},{"SupportingStructuralVariation":"nssv17172182","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13729429-13770990"},{"description":"CILIARY DYSKINESIA, PRIMARY, 24","Gene":"ENSG00000160188","source":"MIM morbid","location":"21:42472486-42496366","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"615481"}},{"Variation":"rs138291757","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar","attributes":{"risk_allele":"A","associated_gene":"LRRC56","clinical_significance":"likely benign","external_id":"RCV002498246.1"},"location":"11:551161-551161","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7096645","location":"2:26401990-26424474","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"10:27812492-27961735","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv16867155","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23","source":"dbVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs4963198","source":"ClinVar","location":"HSCHR11_1_CTG8:81393-81393","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV001730876.2","clinical_significance":"benign","risk_allele":"A","associated_gene":"LRRC56"}},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv8639487","mapped_to_accession":"EFO:0003900","location":"5:13791994-13944439"},{"attributes":{"external_id":"615504"},"mapped_to_accession":"EFO:0003900","location":"12:48904105-48931840","source":"MIM morbid","Gene":"ENSG00000139537","description":"CILIARY DYSKINESIA, PRIMARY, 27"},{"attributes":{"external_id":"RCV001553812.1","clinical_significance":"pathogenic","MIM":"601990","risk_allele":"T","associated_gene":"TP73"},"mapped_to_accession":"EFO:0003900","location":"1:3728137-3728137","source":"ClinVar","Variation":"rs2124524068","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY"},{"Variation":"rs773892565","description":"Ciliary dyskinesia, primary, 49, without situs inversus","source":"ClinVar","attributes":{"external_id":"RCV004723635.1","clinical_significance":"likely pathogenic","associated_gene":"CFAP74"},"location":"1:1960010-1960011","mapped_to_accession":"EFO:0003900"},{"location":"14:73671522-73671617","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv15770894","description":"CILIARY DYSKINESIA, PRIMARY, 16: CILD16","source":"dbVar"},{"StructuralVariation":"nsv7097117","location":"5:13791993-14184175","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"Variation":"rs10891537","description":"CILIARY DYSKINESIA, PRIMARY, 45","source":"ClinVar","attributes":{"risk_allele":"G","associated_gene":"TTC12","clinical_significance":"benign","external_id":"RCV001840828.2"},"location":"11:113340648-113340648","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 21","SupportingStructuralVariation":"nssv17517453","mapped_to_accession":"EFO:0003900","location":"2:26398038-26425785"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17971746","location":"9:34513102-34514749","mapped_to_accession":"EFO:0003900"},{"location":"2:218672027-218702717","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"619436"},"description":"CILIARY DYSKINESIA, PRIMARY, 46","source":"MIM morbid","Gene":"ENSG00000163482"},{"attributes":{"clinical_significance":"pathogenic","external_id":"RCV001783132.4","associated_gene":"DNAH9"},"location":"17:11610541-11610542","mapped_to_accession":"EFO:0003900","Variation":"rs747190555","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"SupportingStructuralVariation":"nssv17172181","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13885954-13911503"},{"location":"17:80097225-80099775","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18786940"},{"mapped_to_accession":"EFO:0003900","location":"3:52396797-52396797","attributes":{"external_id":"RCV004994251.2","clinical_significance":"likely pathogenic","associated_gene":"DNAH1","risk_allele":"C"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs1704650728"},{"description":"Ciliopathy","Variation":"rs746719915","source":"ClinVar","attributes":{"external_id":"RCV005356160.1","clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"KATNIP"},"location":"16:27698339-27698339","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv15143208","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"21:42472798-44209683"},{"Variation":"rs761237701","description":"Ciliary dyskinesia, primary, 49, without situs inversus","source":"ClinVar","attributes":{"clinical_significance":"pathogenic","external_id":"RCV003152344.1","associated_gene":"CFAP74","MIM":"620187"},"location":"1:1960019-1960024","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv6310707","location":"19:55151834-55166648","mapped_to_accession":"EFO:0003900"},{"location":"17:74289584-74291143","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17171762","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliopathy","Gene":"ENSG00000163818","source":"GenCC","location":"3:45823316-45916042","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:6741"}},{"location":"16:84154557-84170376","StructuralVariation":"nsv7094604","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"5:13917160-13919623","SupportingStructuralVariation":"nssv17973758","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"17:11969430-11969430","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"G","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV005014313.1"},"Variation":"rs200749236","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"source":"MIM morbid","Gene":"ENSG00000114841","description":"CILIARY DYSKINESIA, PRIMARY, 37","attributes":{"external_id":"617577"},"mapped_to_accession":"EFO:0003900","location":"3:52316319-52400492"},{"Variation":"rs201244916","description":"CILIARY DYSKINESIA, PRIMARY, 45","source":"ClinVar","attributes":{"MIM":"610732","associated_gene":"TTC12","risk_allele":"T","external_id":"RCV001007632.1","clinical_significance":"pathogenic"},"location":"11:113362464-113362464","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"X:38310595-38323544","SupportingStructuralVariation":"nssv18789016","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"ClinVar","Variation":"rs375775619","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11598748-11598748","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003146686.3","associated_gene":"DNAH9","risk_allele":"T"}},{"Variation":"rs2496303476","description":"CILIARY DYSKINESIA, PRIMARY, 38","source":"ClinVar","attributes":{"associated_gene":"CFAP300","risk_allele":"T","external_id":"RCV003881668.1","clinical_significance":"likely pathogenic"},"location":"11:102047879-102047879","mapped_to_accession":"EFO:0003900"},{"location":"16:90022722-90027742","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17970799","description":"Ciliary dyskinesia, primary, 33","source":"dbVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4683066","location":"5:13791974-13944517"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv5564461","location":"X:37685956-38327373"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"7:21744418-21750384","StructuralVariation":"nsv7097733"},{"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000149483","location":"11:61361964-61377890","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:26944"}},{"location":"19:48296976-48306343","StructuralVariation":"nsv7095215","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"21:39184176-39321559","attributes":{"external_id":"620438"},"source":"MIM morbid","Gene":"ENSG00000185658","description":"Ciliary dyskinesia, primary, 51"},{"Variation":"rs577494986","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","location":"17:11699776-11699776","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV002302488.1","clinical_significance":"likely pathogenic","risk_allele":"T","associated_gene":"LOC126862506,DNAH9"}},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 33","mapped_to_accession":"EFO:0003900","location":"16:87603147-90043345","StructuralVariation":"nsv7094699"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs950353955","attributes":{"associated_gene":"DNAH1","risk_allele":"T","clinical_significance":"uncertain significance","external_id":"RCV001335754.1"},"mapped_to_accession":"EFO:0003900","location":"3:52370592-52370592"},{"mapped_to_accession":"EFO:0003900","location":"7:21543246-21639085","SupportingStructuralVariation":"nssv18791880","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv3883685","location":"17:74299698-74305462","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16212446","location":"X:38269606-38269852","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"RCV000735805.1","clinical_significance":"pathogenic","MIM":"618227","associated_gene":"LRRC56","risk_allele":"T"},"location":"11:551266-551266","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs372959912","source":"ClinVar"},{"mapped_to_accession":"EFO:0003900","location":"5:13923270-13923450","StructuralVariation":"nsv6311752","source":"dbVar","description":"Ciliary dyskinesia"},{"mapped_to_accession":"EFO:0003900","location":"X:107238921-107238921","attributes":{"external_id":"RCV002283880.3","clinical_significance":"likely pathogenic","risk_allele":"A","associated_gene":"DNAAF6"},"source":"ClinVar","Variation":"rs2522808756","description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED"},{"location":"17:74285020-74287118","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17973674","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"ClinVar","Variation":"rs72815427","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11886892-11886892","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV002272556.3","associated_gene":"DNAH9","risk_allele":"T"}},{"description":"Ciliary dyskinesia, primary, 33","source":"dbVar","location":"16:90022702-90040529","StructuralVariation":"nsv3876761","mapped_to_accession":"EFO:0003900"},{"attributes":{"associated_gene":"DNAH9","risk_allele":"G","external_id":"RCV005361908.1","clinical_significance":"likely pathogenic"},"location":"17:11610394-11610394","mapped_to_accession":"EFO:0003900","Variation":"rs2072609192","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"source":"ClinVar","Variation":"rs1267599270","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11933949-11933949","attributes":{"external_id":"RCV000754653.1","clinical_significance":"pathogenic","MIM":"603330","risk_allele":"A","associated_gene":"DNAH9"}},{"source":"ClinVar","Variation":"rs749329454","description":"Ciliopathy","mapped_to_accession":"EFO:0003900","location":"16:27681494-27681494","attributes":{"associated_gene":"KATNIP","risk_allele":"G","clinical_significance":"uncertain significance","external_id":"RCV005362067.1"}},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4683120","location":"10:27935000-28000048","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"7:21880682-21884430","StructuralVariation":"nsv7097619"},{"location":"8:100162279-100162420","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv15129848","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar"},{"attributes":{"external_id":"HGNC:30836"},"mapped_to_accession":"EFO:0003900","location":"12:89357869-89526201","Gene":"ENSG00000139323","source":"GenCC","description":"Ciliopathy"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17172362","mapped_to_accession":"EFO:0003900","location":"9:34489313-34493338"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv1398136","location":"5:13791994-13944439"},{"location":"X:38322833-38323544","StructuralVariation":"nsv7098527","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4682608","location":"5:13765966-13769625"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"5:13691984-13754358","StructuralVariation":"nsv7097021","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6312891","location":"8:100162281-100162440"},{"attributes":{"external_id":"RCV003229649.1","clinical_significance":"likely pathogenic","associated_gene":"DNAH9"},"location":"17:11797663-11797666","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs752647137","source":"ClinVar"},{"source":"ClinVar","Variation":"rs1704644099","description":"CILIARY DYSKINESIA, PRIMARY, 37","attributes":{"associated_gene":"DNAH1","clinical_significance":"benign","external_id":"RCV001662391.3"},"mapped_to_accession":"EFO:0003900","location":"3:52396682-52396682"},{"attributes":{"external_id":"RCV001004054.3","clinical_significance":"pathogenic","risk_allele":"A","associated_gene":"NEK10","MIM":"618726"},"location":"3:27192217-27192217","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs766982731","source":"ClinVar"},{"location":"7:726721-741485","StructuralVariation":"nsv7098136","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"5:13864377-13868012","StructuralVariation":"nsv3883087","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"attributes":{"external_id":"RCV003341575.1","clinical_significance":"benign","risk_allele":"G","associated_gene":"TP73"},"location":"1:3727785-3727785","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY","Variation":"rs2181486","source":"ClinVar"},{"location":"5:13791974-13944517","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv16212081","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 16: CILD16","source":"dbVar","SupportingStructuralVariation":"nssv15774036","location":"14:73645020-74260939","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"8:100162261-100162440","SupportingStructuralVariation":"nssv15130902","source":"dbVar","description":"Ciliary dyskinesia, primary, 28"},{"Variation":"rs35537971","description":"CILIARY DYSKINESIA, PRIMARY, 39","source":"ClinVar","attributes":{"risk_allele":"A","associated_gene":"LRRC56","clinical_significance":"benign","external_id":"RCV001730939.2"},"location":"HSCHR11_1_CTG8:80875-80875","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv18789999","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"2:26444202-26444968"},{"source":"GenCC","Gene":"ENSG00000181004","description":"Ciliopathy","mapped_to_accession":"EFO:0003900","location":"4:122732653-122746078","attributes":{"external_id":"HGNC:26648"}},{"source":"ClinVar","Variation":"rs2303380","description":"CILIARY DYSKINESIA, PRIMARY, 45","attributes":{"external_id":"RCV001840832.2","clinical_significance":"benign","associated_gene":"TTC12","risk_allele":"A"},"mapped_to_accession":"EFO:0003900","location":"11:113329987-113329987"},{"mapped_to_accession":"EFO:0003900","location":"2:195886268-195886269","attributes":{"associated_gene":"DNAH7","external_id":"RCV003990419.3","clinical_significance":"likely pathogenic"},"source":"ClinVar","description":"Ciliary dyskinesia, primary, 50","Variation":"rs763829514"},{"SupportingStructuralVariation":"nssv17976800","description":"CILIARY DYSKINESIA, PRIMARY, 25: CILD25","source":"dbVar","location":"15:55437070-55440618","mapped_to_accession":"EFO:0003900"},{"attributes":{"risk_allele":"T","associated_gene":"CC2D2A","external_id":"RCV003325464.6","clinical_significance":"uncertain significance"},"location":"4:15570431-15570431","mapped_to_accession":"EFO:0003900","Variation":"rs371561652","description":"Ciliopathy","source":"ClinVar"},{"location":"7:21901225-21901281","StructuralVariation":"nsv4684166","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 7: CILD7","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"X:38269606-38310793","source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv16211983"},{"mapped_to_accession":"EFO:0003900","location":"4:15479265-15479265","attributes":{"risk_allele":"T","associated_gene":"CC2D2A","clinical_significance":"uncertain significance","external_id":"RCV005358452.1"},"source":"ClinVar","description":"Ciliopathy","Variation":"rs749907863"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv15129858","mapped_to_accession":"EFO:0003900","location":"5:13824199-13830775"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4683981","location":"17:74274200-74289746","source":"dbVar","description":"Ciliary dyskinesia"},{"location":"7:36390027-37916537","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17968854","description":"CILIARY DYSKINESIA, PRIMARY, 6: CILD6","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4682341","location":"16:90035613-90043365","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33"},{"StructuralVariation":"nsv4681154","location":"5:13876664-13914662","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"ClinVar","Variation":"rs145074455","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11647167-11647167","attributes":{"external_id":"RCV001784148.1","clinical_significance":"uncertain significance","associated_gene":"DNAH9","risk_allele":"T"}},{"mapped_to_accession":"EFO:0003900","location":"5:13765966-13769625","SupportingStructuralVariation":"nssv16214330","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv3888381","location":"5:13727487-13777375","mapped_to_accession":"EFO:0003900"},{"attributes":{"associated_gene":"LRRC56","risk_allele":"C","clinical_significance":"benign","external_id":"RCV001730966.2"},"mapped_to_accession":"EFO:0003900","location":"HSCHR11_1_CTG8:83854-83854","source":"ClinVar","Variation":"rs10902171","description":"CILIARY DYSKINESIA, PRIMARY, 39"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4683664","location":"5:13691964-13944458","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18789014","mapped_to_accession":"EFO:0003900","location":"X:38273366-38304810"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv5673891","location":"9:34489313-34520766","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs73975043","source":"ClinVar","location":"17:11669352-11669352","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"LOC126862505,DNAH9","risk_allele":"A","clinical_significance":"benign","external_id":"RCV001661457.3"}},{"description":"Ciliary dyskinesia","source":"dbVar","location":"5:13864387-13868002","StructuralVariation":"nsv4682359","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7098524","location":"X:38287075-38291044"},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV005050245.1","risk_allele":"G","associated_gene":"LRRC56"},"mapped_to_accession":"EFO:0003900","location":"11:550058-550058","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs200349494"},{"SupportingStructuralVariation":"nssv18786056","description":"Ciliary dyskinesia","source":"dbVar","location":"3:180652255-180652255","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs749159702","source":"ClinVar","location":"17:11629498-11629498","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV005254196.2","clinical_significance":"likely pathogenic","associated_gene":"DNAH9","risk_allele":"T"}},{"attributes":{"associated_gene":"CFAP74","risk_allele":"T","MIM":"620187","external_id":"RCV003152338.1","clinical_significance":"pathogenic"},"location":"1:1970722-1970722","mapped_to_accession":"EFO:0003900","Variation":"rs570149409","description":"Ciliary dyskinesia, primary, 49, without situs inversus","source":"ClinVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","source":"MIM morbid","Gene":"ENSG00000080572","attributes":{"external_id":"300991"},"location":"X:107206606-107244247","mapped_to_accession":"EFO:0003900"},{"description":"CILIARY DYSKINESIA, PRIMARY, 32: CILD32","source":"dbVar","SupportingStructuralVariation":"nssv17975055","location":"6:158111366-159693167","mapped_to_accession":"EFO:0003900"},{"location":"17:11797624-11797624","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"DNAH9","risk_allele":"T","MIM":"603330","clinical_significance":"pathogenic","external_id":"RCV000754656.1"},"Variation":"rs1567808990","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 28","SupportingStructuralVariation":"nssv16212851","mapped_to_accession":"EFO:0003900","location":"8:100225153-100231308"},{"mapped_to_accession":"EFO:0003900","location":"17:76136333-76141256","attributes":{"external_id":"HGNC:3816"},"source":"GenCC","Gene":"ENSG00000129654","description":"CILIARY DYSKINESIA, PRIMARY, 43"},{"mapped_to_accession":"EFO:0003900","location":"10:27812492-27812645","StructuralVariation":"nsv5380712","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23"},{"source":"ClinVar","Variation":"rs199784204","description":"CILIARY DYSKINESIA, PRIMARY, 39","mapped_to_accession":"EFO:0003900","location":"11:551826-551826","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003130567.3","risk_allele":"C","associated_gene":"LRRC56"}},{"source":"ClinVar","Variation":"rs7211854","description":"CILIARY DYSKINESIA, PRIMARY, 40","attributes":{"clinical_significance":"benign","external_id":"RCV001658377.5","risk_allele":"A","associated_gene":"DNAH9,LOC101928350"},"mapped_to_accession":"EFO:0003900","location":"17:11874923-11874923"},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003148288.1","risk_allele":"T","associated_gene":"DNAH9"},"mapped_to_accession":"EFO:0003900","location":"17:11640341-11640341","source":"ClinVar","Variation":"rs776574643","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"mapped_to_accession":"EFO:0003900","location":"3:52392482-52392482","attributes":{"associated_gene":"DNAH1","risk_allele":"G","clinical_significance":"uncertain significance","external_id":"RCV001330873.1"},"source":"ClinVar","Variation":"rs554676148","description":"CILIARY DYSKINESIA, PRIMARY, 37"},{"description":"Ciliopathy","Gene":"ENSG00000047578","source":"GenCC","location":"16:27550133-27780371","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:29068"}},{"mapped_to_accession":"EFO:0003900","location":"8:100151617-100163589","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 1: CILD1","SupportingStructuralVariation":"nssv15149060"},{"mapped_to_accession":"EFO:0003900","location":"16:90042450-90043345","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","SupportingStructuralVariation":"nssv17973445"},{"location":"16:90035613-90043365","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 33","source":"dbVar","SupportingStructuralVariation":"nssv16212085"},{"attributes":{"risk_allele":"A","associated_gene":"CEP83","clinical_significance":"likely pathogenic","external_id":"RCV003984302.3"},"location":"12:94331819-94331819","mapped_to_accession":"EFO:0003900","description":"Ciliopathy","Variation":"rs2541287399","source":"ClinVar"},{"description":"Ciliary dyskinesia, primary, 33","source":"dbVar","SupportingStructuralVariation":"nssv17975075","location":"16:90027616-90027742","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs762036147","mapped_to_accession":"EFO:0003900","location":"17:11763507-11763507","attributes":{"risk_allele":"T","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV005011171.1"}},{"location":"6:158999415-158999976","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17974347","description":"CILIARY DYSKINESIA, PRIMARY, 32: CILD32","source":"dbVar"},{"location":"2:195987065-195987065","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"likely pathogenic","external_id":"RCV003990395.3","associated_gene":"DNAH7","risk_allele":"T"},"Variation":"rs2125631883","description":"Ciliary dyskinesia, primary, 50","source":"ClinVar"},{"source":"ClinVar","description":"Ciliary dyskinesia, primary, 50","Variation":"rs752223706","mapped_to_accession":"EFO:0003900","location":"2:195936736-195936741","attributes":{"associated_gene":"DNAH7","clinical_significance":"likely pathogenic","external_id":"RCV005600610.1"}},{"location":"9:34513102-34514749","StructuralVariation":"nsv6313102","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"location":"X:38297264-38381449","StructuralVariation":"nsv5381669","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"10:27860625-27862622","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23","SupportingStructuralVariation":"nssv15129867"},{"description":"Ciliary dyskinesia, primary, 33","source":"dbVar","StructuralVariation":"nsv7094949","location":"16:90027616-90032944","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4716478","location":"15:55437070-55440618"},{"attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003990421.3","risk_allele":"G","associated_gene":"DAW1"},"mapped_to_accession":"EFO:0003900","location":"2:227903054-227903054","source":"ClinVar","Variation":"rs950649147","description":"Ciliary dyskinesia, primary, 52"},{"SupportingStructuralVariation":"nssv16211878","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"17:80085983-80095471"},{"mapped_to_accession":"EFO:0003900","location":"5:13840886-13841150","SupportingStructuralVariation":"nssv16866100","source":"dbVar","description":"Ciliary dyskinesia"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv6314500","location":"5:13864442-13864442"},{"location":"11:113338802-113338804","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV001007633.1","clinical_significance":"pathogenic","MIM":"610732","associated_gene":"TTC12"},"description":"CILIARY DYSKINESIA, PRIMARY, 45","Variation":"rs781864891","source":"ClinVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Gene":"ENSG00000273831","source":"MIM morbid","location":"HSCHR11_1_CTG8:67168-84556","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"618254"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 28: CILD28","source":"dbVar","SupportingStructuralVariation":"nssv15130902","location":"8:100162261-100162440","mapped_to_accession":"EFO:0003900"},{"source":"ClinVar","Variation":"rs864309657","description":"Ciliopathy","mapped_to_accession":"EFO:0003900","location":"12:110163066-110163066","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV000203233.2","associated_gene":"IFT81","risk_allele":"A","MIM":"605489"}},{"description":"Ciliary dyskinesia","source":"dbVar","location":"9:34483428-34520756","StructuralVariation":"nsv7097723","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16212268","location":"17:74274200-74289746","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"3:180651381-180651553","SupportingStructuralVariation":"nssv15129314","source":"dbVar","description":"Ciliary dyskinesia"},{"attributes":{"MIM":"610061","risk_allele":"T","associated_gene":"DNAH7","clinical_significance":"pathogenic","external_id":"RCV003224827.1"},"mapped_to_accession":"EFO:0003900","location":"2:195884761-195884761","source":"ClinVar","Variation":"rs118190947","description":"Ciliary dyskinesia, primary, 50"},{"attributes":{"risk_allele":"T","associated_gene":"MCIDAS","external_id":"RCV003120811.4","clinical_significance":"uncertain significance"},"location":"5:55226950-55226950","mapped_to_accession":"EFO:0003900","Variation":"rs181955833","description":"CILIARY DYSKINESIA, PRIMARY, 42","source":"ClinVar"},{"Variation":"rs763675078","description":"Ciliopathy","source":"ClinVar","location":"16:49637717-49637717","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV005361514.1","clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"ZNF423"}},{"attributes":{"MIM":"620279","associated_gene":"DAW1","risk_allele":"G","external_id":"RCV003389341.1","clinical_significance":"pathogenic"},"mapped_to_accession":"EFO:0003900","location":"2:227893904-227893904","source":"ClinVar","description":"Ciliary dyskinesia, primary, 52","Variation":"rs1265774517"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"21:42472798-44209683","StructuralVariation":"nsv3884396"},{"Gene":"ENSG00000129654","source":"MIM morbid","description":"CILIARY DYSKINESIA, PRIMARY, 43","attributes":{"external_id":"618699"},"mapped_to_accession":"EFO:0003900","location":"17:76136333-76141256"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18790714","mapped_to_accession":"EFO:0003900","location":"9:34520638-34520756"},{"location":"17:8172440-8176408","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:28128"},"description":"Ciliopathy","source":"GenCC","Gene":"ENSG00000179029"},{"attributes":{"risk_allele":"T","associated_gene":"DNAH9","external_id":"RCV002498320.1","clinical_significance":"likely benign"},"mapped_to_accession":"EFO:0003900","location":"17:11756639-11756639","source":"ClinVar","Variation":"rs61732585","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv5673782","location":"7:21571855-21572919"},{"StructuralVariation":"nsv4768348","location":"15:55429622-55432751","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"X:38269606-38269852","StructuralVariation":"nsv4682224"},{"StructuralVariation":"nsv6310116","location":"16:90027616-90027742","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar"},{"location":"9:34489313-34520766","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17172361","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16212494","location":"5:13876664-13914662","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"10:27981131-27986391","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23","SupportingStructuralVariation":"nssv15161300"},{"mapped_to_accession":"EFO:0003900","location":"8:100151617-100163589","StructuralVariation":"nsv3873246","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 1: CILD1"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv17973986","mapped_to_accession":"EFO:0003900","location":"17:74299708-74312970"},{"description":"Ciliary dyskinesia","source":"dbVar","location":"5:13718872-13721255","StructuralVariation":"nsv4683642","mapped_to_accession":"EFO:0003900"},{"attributes":{"external_id":"RCV003224829.1","clinical_significance":"pathogenic","associated_gene":"DNAH7","risk_allele":"T","MIM":"610061"},"mapped_to_accession":"EFO:0003900","location":"2:195816778-195816778","source":"ClinVar","description":"Ciliary dyskinesia, primary, 50","Variation":"rs199798030"},{"attributes":{"risk_allele":"A","associated_gene":"DNAH9","clinical_significance":"likely pathogenic","external_id":"RCV005400563.1"},"mapped_to_accession":"EFO:0003900","location":"17:11756677-11756677","source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs369930361"},{"location":"X:38286059-38286059","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv18786456"},{"location":"21:42472798-44209683","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv15777465"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv7097126","location":"5:13922325-13923665","mapped_to_accession":"EFO:0003900"},{"location":"5:13885954-13911503","StructuralVariation":"nsv5673511","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv17973506","location":"7:21739663-21740316","mapped_to_accession":"EFO:0003900"},{"StructuralVariation":"nsv4682902","location":"X:38269606-38421102","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"description":"Ciliary dyskinesia, primary, 28","source":"MIM morbid","Gene":"ENSG00000104450","location":"8:100157853-100259278","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"615505"}},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs3744581","source":"ClinVar","location":"17:11747740-11747740","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"G","associated_gene":"DNAH9","external_id":"RCV001662398.3","clinical_significance":"benign"}},{"attributes":{"external_id":"RCV000983980.1","clinical_significance":"pathogenic","associated_gene":"MCIDAS","risk_allele":"C","MIM":"614086"},"location":"5:55221014-55221014","mapped_to_accession":"EFO:0003900","Variation":"rs1580402818","description":"CILIARY DYSKINESIA, PRIMARY, 42","source":"ClinVar"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs17680166","mapped_to_accession":"EFO:0003900","location":"3:27201554-27201554","attributes":{"external_id":"RCV001785429.2","clinical_significance":"benign","associated_gene":"NEK10","risk_allele":"C"}},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18791881","mapped_to_accession":"EFO:0003900","location":"7:21880682-21884430"},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","mapped_to_accession":"EFO:0003900","location":"16:90022702-90040529","StructuralVariation":"nsv3876761"},{"location":"1:1921951-2003837","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"620197"},"description":"Ciliary dyskinesia, primary, 49, without situs inversus","source":"MIM morbid","Gene":"ENSG00000142609"},{"attributes":{"risk_allele":"A","associated_gene":"DNAH9","clinical_significance":"uncertain significance","external_id":"RCV003147693.1"},"mapped_to_accession":"EFO:0003900","location":"17:11652761-11652761","source":"ClinVar","Variation":"rs201163987","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"SupportingStructuralVariation":"nssv15128334","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"17:80097245-80100613"},{"StructuralVariation":"nsv4452558","location":"6:158980754-158986441","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 32: CILD32","source":"dbVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs749409414","source":"ClinVar","attributes":{"external_id":"RCV001780979.4","clinical_significance":"likely pathogenic","associated_gene":"DNAH9","risk_allele":"T"},"location":"17:11822051-11822051","mapped_to_accession":"EFO:0003900"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv7097724","location":"9:34489303-34491574","mapped_to_accession":"EFO:0003900"},{"StructuralVariation":"nsv4682290","location":"16:90040280-90043365","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 33","source":"dbVar"},{"source":"MIM morbid","Gene":"ENSG00000159079","description":"Ciliary dyskinesia, primary, 26","attributes":{"external_id":"615500"},"mapped_to_accession":"EFO:0003900","location":"21:32592074-32612881"},{"Variation":"rs559543526","description":"Ciliary dyskinesia, primary, 49, without situs inversus","source":"ClinVar","location":"1:1927024-1927024","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"RCV003152339.1","clinical_significance":"pathogenic","risk_allele":"T","associated_gene":"CFAP74","MIM":"620187"}},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 37","Variation":"rs111568726","mapped_to_accession":"EFO:0003900","location":"3:52332371-52332371","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV001330877.1","associated_gene":"DNAH1","risk_allele":"T"}},{"location":"3:180651381-180651553","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv16213340","description":"Ciliary dyskinesia","source":"dbVar"},{"Variation":"rs191974505","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","location":"17:11652991-11652991","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"DNAH9","risk_allele":"T","clinical_significance":"uncertain significance","external_id":"RCV002051962.3"}},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv3886813","location":"5:13768960-13794058","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"CILIARY DYSKINESIA, PRIMARY, 29","source":"MIM morbid","Gene":"ENSG00000152669","location":"5:55231152-55233649","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"615872"}},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18789998","mapped_to_accession":"EFO:0003900","location":"2:26401990-26424474"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv6312203","location":"5:55222931-55223043","mapped_to_accession":"EFO:0003900"},{"location":"16:87603147-90043345","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia, primary, 33","source":"dbVar","SupportingStructuralVariation":"nssv18788423"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13809024-13811843","StructuralVariation":"nsv3886211"},{"location":"19:48302674-48312136","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar","SupportingStructuralVariation":"nssv16214093"},{"attributes":{"external_id":"RCV005017064.1","clinical_significance":"uncertain significance","associated_gene":"DNAH9","risk_allele":"A"},"location":"17:11822534-11822534","mapped_to_accession":"EFO:0003900","Variation":"rs202196562","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"location":"5:13753223-13754348","StructuralVariation":"nsv5673580","mapped_to_accession":"EFO:0003900","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs201657301","mapped_to_accession":"EFO:0003900","location":"17:11704434-11704434","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003146465.3","risk_allele":"A","associated_gene":"DNAH9"}},{"Variation":"rs1057519569","description":"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED","source":"ClinVar","attributes":{"risk_allele":"T","associated_gene":"DNAAF6","MIM":"300933","external_id":"RCV000417045.1","clinical_significance":"pathogenic"},"location":"X:107222767-107222767","mapped_to_accession":"EFO:0003900"},{"attributes":{"associated_gene":"NEK10","risk_allele":"T","external_id":"RCV003989832.3","clinical_significance":"likely pathogenic"},"location":"3:27115957-27115957","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 44","Variation":"rs768169562","source":"ClinVar"},{"description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs61736743","source":"ClinVar","attributes":{"risk_allele":"A","associated_gene":"LRRC56","clinical_significance":"likely benign","external_id":"RCV002508023.1"},"location":"HSCHR11_1_CTG8:79832-79832","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv15130861","description":"Ciliary dyskinesia","source":"dbVar","location":"3:180648145-180664006","mapped_to_accession":"EFO:0003900"},{"SupportingStructuralVariation":"nssv18791931","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13899053-13901265"},{"location":"5:13753223-13754348","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17172179","description":"Ciliary dyskinesia","source":"dbVar"},{"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 40","Variation":"rs113483879","mapped_to_accession":"EFO:0003900","location":"17:11894354-11894354","attributes":{"associated_gene":"DNAH9","risk_allele":"G","clinical_significance":"likely benign","external_id":"RCV002500308.1"}},{"Variation":"rs751926370","description":"Ciliopathy","source":"ClinVar","location":"4:15502849-15502849","mapped_to_accession":"EFO:0003900","attributes":{"risk_allele":"A","associated_gene":"CC2D2A","external_id":"RCV005358453.1","clinical_significance":"uncertain significance"}},{"mapped_to_accession":"EFO:0003900","location":"HSCHR10_1_CTG4:29483-165218","attributes":{"external_id":"HGNC:2904"},"Gene":"ENSG00000274429","source":"GenCC","description":"Ciliopathy"},{"mapped_to_accession":"EFO:0003900","location":"10:27940403-27969505","SupportingStructuralVariation":"nssv15142589","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 23: CILD23"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv4451245","location":"16:84148987-84150362","source":"dbVar","description":"Ciliary dyskinesia"},{"description":"Ciliary dyskinesia, primary, 50","Gene":"ENSG00000118997","source":"GenCC","location":"2:195737524-196068848","mapped_to_accession":"EFO:0003900","attributes":{"external_id":"HGNC:18661"}},{"SupportingStructuralVariation":"nssv18791927","source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","location":"5:13780819-13780969"},{"location":"17:11883719-11883719","mapped_to_accession":"EFO:0003900","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV003333880.1","associated_gene":"DNAH9,LOC101928350","risk_allele":"G"},"Variation":"rs1238092019","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar"},{"source":"dbVar","description":"Ciliary dyskinesia","SupportingStructuralVariation":"nssv18791932","mapped_to_accession":"EFO:0003900","location":"5:13922325-13923665"},{"location":"7:21901066-21901067","mapped_to_accession":"EFO:0003900","SupportingStructuralVariation":"nssv17973228","description":"Ciliary dyskinesia","source":"dbVar"},{"mapped_to_accession":"EFO:0003900","location":"11:549994-549994","attributes":{"MIM":"618227","risk_allele":"C","associated_gene":"LRRC56","external_id":"RCV000735804.1","clinical_significance":"pathogenic"},"source":"ClinVar","description":"CILIARY DYSKINESIA, PRIMARY, 39","Variation":"rs1564805039"},{"mapped_to_accession":"EFO:0003900","location":"8:100162281-100162440","StructuralVariation":"nsv6312891","source":"dbVar","description":"Ciliary dyskinesia, primary, 28"},{"source":"dbVar","description":"Ciliary dyskinesia, primary, 33","mapped_to_accession":"EFO:0003900","location":"16:90042450-90043365","StructuralVariation":"nsv3875791"},{"mapped_to_accession":"EFO:0003900","location":"17:11745015-11745015","attributes":{"clinical_significance":"benign","external_id":"RCV001662397.3","associated_gene":"DNAH9","risk_allele":"T"},"source":"ClinVar","Variation":"rs3744578","description":"CILIARY DYSKINESIA, PRIMARY, 40"},{"source":"ClinVar","Variation":"rs112905609","description":"CILIARY DYSKINESIA, PRIMARY, 40","mapped_to_accession":"EFO:0003900","location":"17:11886867-11886867","attributes":{"associated_gene":"DNAH9","risk_allele":"A","external_id":"RCV001661458.3","clinical_significance":"benign"}},{"location":"16:87603147-90043345","StructuralVariation":"nsv7094699","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar"},{"SupportingStructuralVariation":"nssv17973046","description":"Ciliary dyskinesia","source":"dbVar","location":"3:180679271-180679380","mapped_to_accession":"EFO:0003900"},{"source":"dbVar","description":"Ciliary dyskinesia","mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv5381256","location":"17:80097225-80099795"},{"description":"Ciliary dyskinesia","source":"dbVar","StructuralVariation":"nsv6634558","location":"5:13894946-13895265","mapped_to_accession":"EFO:0003900"},{"mapped_to_accession":"EFO:0003900","location":"3:52390915-52393505","StructuralVariation":"nsv7096471","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 37: CILD37"},{"mapped_to_accession":"EFO:0003900","StructuralVariation":"nsv7096471","location":"3:52390915-52393505","source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 37"},{"mapped_to_accession":"EFO:0003900","location":"2:195872391-195872391","attributes":{"external_id":"RCV003224828.1","clinical_significance":"pathogenic","risk_allele":"T","associated_gene":"DNAH7","MIM":"610061"},"source":"ClinVar","description":"Ciliary dyskinesia, primary, 50","Variation":"rs192120666"},{"StructuralVariation":"nsv3875791","location":"16:90042450-90043365","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 33: CILD33","source":"dbVar"},{"attributes":{"clinical_significance":"pathogenic","external_id":"RCV001007631.1","MIM":"610732","risk_allele":"T","associated_gene":"TTC12"},"location":"11:113360011-113360011","mapped_to_accession":"EFO:0003900","description":"CILIARY DYSKINESIA, PRIMARY, 45","Variation":"rs782603932","source":"ClinVar"},{"Variation":"rs377362405","description":"CILIARY DYSKINESIA, PRIMARY, 40","source":"ClinVar","location":"17:11969384-11969384","mapped_to_accession":"EFO:0003900","attributes":{"associated_gene":"DNAH9","risk_allele":"T","external_id":"RCV003340805.3","clinical_significance":"uncertain significance"}},{"Gene":"ENSG00000140463","source":"GenCC","description":"Ciliopathy","mapped_to_accession":"EFO:0003900","location":"15:72686181-72742006","attributes":{"external_id":"HGNC:969"}},{"source":"dbVar","description":"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY: CILD47","SupportingStructuralVariation":"nssv17955495","mapped_to_accession":"EFO:0003900","location":"1:3727346-3739337"}]