Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	SNV Germline	Chr11:61393965	Pathogenic	Joubert syndrome 2 Condition: not provided Familial aplasia of the vermis Inborn genetic diseases Meckel syndrome, type 2 TMEM216-related disorder Meckel syndrome, type 2 Joubert syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA339800	rs_201108965	18 SubmittersRCV000000220 RCV000255378 RCV000465185 RCV000624413 RCV000409114 RCV000779066 RCV001787358
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	SNV Germline	Chr11:61393965	Pathogenic/Likely pathogenic	Joubert syndrome 2 Meckel syndrome, type 2 Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA129626	rs_201108965	3 SubmittersRCV000000221 RCV000024013 RCV001038780
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)	SNV Germline	Chr9:136431830	Likely pathogenic	Joubert syndrome 1 Familial aplasia of the vermis	Criteria Provided Single Submitter	CA259595	rs_13297509	2 SubmittersRCV000022402 RCV001851510
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)	SNV Germline	Chr9:136430391	Pathogenic	Joubert syndrome 1	No Assertion Criteria Provided	CA259596	rs_121918128	1 SubmittersRCV000022403
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)	SNV Germline	Chr9:136432562	Pathogenic/Likely pathogenic	Joubert syndrome 1 Familial aplasia of the vermis Retinal dystrophy Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA259597	rs_121918129	7 SubmittersRCV000022404 RCV000201569 RCV001073387 RCV003144102 RCV003488316
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	SNV Germline	Chr9:136433182	Pathogenic/Likely pathogenic	Joubert syndrome 1 Familial aplasia of the vermis 16 conditions Inborn genetic diseases Joubert syndrome and related disorders Condition: not provided INPP5E-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA259598	rs_121918130	7 SubmittersRCV000022405 RCV000636941 RCV000735369 RCV001267543 RCV002265543 RCV001550720 RCV004532266
NM_001378615.1(CC2D2A):c.2338+1G>C	SNV Germline	Chr4:15550981	Pathogenic	Joubert syndrome 9	No Assertion Criteria Provided		rs_2109050324	1 SubmittersRCV000000777
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)	SNV Germline	Chr4:15567752	Conflicting classifications of pathogenicity	Joubert syndrome 9 Condition: not provided COACH syndrome 1 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA114469	rs_118204051	10 SubmittersRCV000000779 RCV000730543 RCV001329602 RCV001851514
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)	SNV Germline	Chr4:15599614	Pathogenic/Likely pathogenic	Joubert syndrome 9 Condition: not provided COACH syndrome 2 Meckel syndrome, type 6 CC2D2A-related disorder Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114471	rs_118204052	7 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV004532267 RCV003764503
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)	SNV Germline	Chr4:15559183	Pathogenic	Joubert syndrome 9 Condition: not provided Inborn genetic diseases CC2D2A-related disorder Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114473	rs_118204053	8 SubmittersRCV000000781 RCV000727257 RCV001266487 RCV004528061 RCV002512617
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)	SNV Germline	Chr4:15563485	Pathogenic	COACH syndrome 2 Joubert syndrome 9/15, digenic Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided See cases Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA129544	rs_386833750	6 SubmittersRCV000000783 RCV000023922 RCV000199602 RCV000578695 RCV002251848 RCV002476904
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)	SNV Germline	Chr4:15567735	Conflicting classifications of pathogenicity	COACH syndrome 2 Joubert syndrome 9 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA210343	rs_267606709	5 SubmittersRCV000000784 RCV000201781 RCV000729670 RCV001383566
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)	SNV Germline	Chr16:53686512	Conflicting classifications of pathogenicity	Joubert syndrome 7 RPGRIP1L-related disorder Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA251686	rs_121918197	5 SubmittersRCV000001123 RCV000367935 RCV001385849 RCV001781156 RCV001831499
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	SNV Germline	Chr16:53652844	Pathogenic	Joubert syndrome 7 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome and related disorders RPGRIP1L-related disorder Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5	Criteria Provided Multiple Submitters No Conflicts	CA251689	rs_121918198	8 SubmittersRCV000001124 RCV000393725 RCV000689745 RCV001271279 RCV003155007 RCV004528062 RCV002482812
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	SNV Germline	Chr16:53686452	Pathogenic	Joubert syndrome 7 Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA251691	rs_121918199	4 SubmittersRCV000001125 RCV001831500 RCV001067857 RCV003398409
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)	SNV Germline	Chr16:53652604	Pathogenic	Joubert syndrome 7	No Assertion Criteria Provided	CA251694	rs_121918200	1 SubmittersRCV000001126
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV Germline	Chr16:53645694	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 1 Meckel syndrome, type 5 RPGRIP1L-related disorder Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA130771	rs_121918203	8 SubmittersRCV000033207 RCV000762961 RCV000779628 RCV000790748 RCV001059320 RCV001831501 RCV004017218
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV Germline	Chr16:53652637	Pathogenic/Likely pathogenic	Joubert syndrome 7 Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 1 Familial aplasia of the vermis Abnormality of prenatal development or birth	Criteria Provided Multiple Submitters No Conflicts	CA251696	rs_121918204	10 SubmittersRCV000001131 RCV000824619 RCV001781157 RCV000762962 RCV001271277 RCV001813927
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV Germline	Chr16:53645895	Pathogenic	COACH syndrome 3 Joubert syndrome 7 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5	Criteria Provided Multiple Submitters No Conflicts	CA210648	rs_145665129	6 SubmittersRCV000001134 RCV000201645 RCV000733537 RCV001382825 RCV001831502 RCV002490288
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	SNV Germline	Chr16:53652712	Pathogenic	COACH syndrome 3 Joubert syndrome 7	Criteria Provided Single Submitter	CA210651	rs_267607020	2 SubmittersRCV000001135 RCV000201757
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Pathogenic/Likely pathogenic	Joubert syndrome 5 Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Retinitis pigmentosa Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 COG7 congenital disorder of glycosylation Abnormality of the nervous system Retinal dystrophy Meckel syndrome, type 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	27 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000515339 RCV001000092 RCV001002714 RCV000787813 RCV000531295 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV001073790 RCV001261607 RCV001276487 RCV003147273
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	SNV Germline	Chr12:88141287	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA227962	rs_62635288	6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 1 Retinitis pigmentosa Joubert syndrome 5 Retinal dystrophy Intellectual disability CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	24 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000763315 RCV000988884 RCV000678535 RCV001196010 RCV001075828 RCV001255341 RCV001731267 RCV001831503 RCV003460403
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Blindness Central hypotonia Nystagmus Molar tooth sign on MRI Condition: not provided not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Retinal dystrophy CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	19 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001002715 RCV001046610 RCV001075829 RCV003155008 RCV001831504 RCV003466778 RCV003492281
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Severe hydrocephalus Polycystic kidney disease Encephalocele Leber congenital amaurosis Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	9 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001376372 RCV002496228 RCV001042869 RCV001781163 RCV003466779 RCV003887847
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	SNV Germline	Chr12:88077227	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA251753	rs_267606719	3 SubmittersRCV000001410 RCV000201631 RCV001261609
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)	SNV Germline	Chr8:93791282	Pathogenic	Joubert syndrome 6 COACH syndrome 1 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210653	rs_137853107	3 SubmittersRCV000001436 RCV000001437 RCV001851544
NM_153704.6(TMEM67):c.2439+5G>C	SNV Germline	Chr8:93804883	Pathogenic	Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Single Submitter		rs_756686115	2 SubmittersRCV000001438 RCV002512641
NM_153704.6(TMEM67):c.651+2T>G	SNV Germline	Chr8:93765648	Conflicting classifications of pathogenicity	Joubert syndrome 6 Meckel syndrome, type 3 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome and related disorders	Criteria Provided Conflicting Classifications	CA213073	rs_199821258	8 SubmittersRCV000001439 RCV000050199 RCV001698938 RCV001851545 RCV002281687
NM_153704.6(TMEM67):c.1961-2A>C	SNV Germline	Chr8:93797329	Pathogenic	COACH syndrome 1 Joubert syndrome 6	Criteria Provided Single Submitter	CA212768	rs_758948621	2 SubmittersRCV000001441 RCV000201576
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	SNV Germline	Chr8:93765617	Pathogenic	Joubert syndrome 6 Meckel syndrome, type 3 TMEM67-related disorder Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided RHYNS syndrome Joubert syndrome and related disorders Inborn genetic diseases 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA114963	rs_137853108	18 SubmittersRCV000001443 RCV000001442 RCV000334857 RCV000468558 RCV000494327 RCV000723362 RCV002298428 RCV003242959 RCV002490291
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)	SNV Germline	Chr8:93780962	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14, modifier of Nephronophthisis Condition: not provided Joubert syndrome 6 RHYNS syndrome Meckel syndrome, type 3 Nephronophthisis 11 Familial aplasia of the vermis Meckel-Gruber syndrome COACH syndrome 1 not specified TMEM67-related disorder	Criteria Provided Conflicting Classifications	CA114968	rs_111619594	14 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001158405 RCV001158406 RCV001085857 RCV001333012 RCV003488318 RCV004528064
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	SNV Germline	Chr8:93808898	Pathogenic/Likely pathogenic	COACH syndrome 1 Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided 6 conditions TMEM67-related disorder Meckel syndrome, type 3 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA210657	rs_267607119	11 SubmittersRCV000001445 RCV000001446 RCV000821785 RCV001310635 RCV001536092 RCV003315221 RCV000995902 RCV001804708
NM_153704.6(TMEM67):c.2556+1G>T	SNV Germline	Chr8:93808957	Pathogenic	COACH syndrome 1 Joubert syndrome 6	Criteria Provided Single Submitter	CA212769	rs_786200867	2 SubmittersRCV000001447 RCV000201565
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)	SNV Germline	Chr8:93795503	Pathogenic	COACH syndrome 1 Joubert syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210661	rs_267607115	7 SubmittersRCV000001449 RCV000201677 RCV001781164 RCV001851546
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)	SNV Germline	Chr8:93808861	Pathogenic	Nephronophthisis 11 Joubert syndrome 6	Criteria Provided Single Submitter	CA114973	rs_267607116	2 SubmittersRCV000001450 RCV000587331
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	SNV Germline	Chr8:93795970	Pathogenic/Likely pathogenic	Joubert syndrome 6 Nephronophthisis 11 Nephronophthisis TMEM67-related disorder Renal cyst Oligohydramnios Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Inborn genetic diseases 14 conditions Bardet-Biedl syndrome 14 Nephronophthisis 11 Joubert syndrome 6 COACH syndrome 1 Meckel syndrome, type 3 RHYNS syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114977	rs_201893408	14 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000415055 RCV000534533 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)	SNV Germline	Chr8:93808861	Pathogenic	Joubert syndrome 6 Nephronophthisis 11	No Assertion Criteria Provided	CA114985	rs_267607116	1 SubmittersRCV000001455 RCV000001454
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)	SNV Germline	Chr8:93755044	Pathogenic	Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA251770	rs_267607118	2 SubmittersRCV000001456 RCV001851547
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	SNV Germline	Chr8:93780633	Pathogenic	Joubert syndrome 6 Nephronophthisis Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA251773	rs_202149403	11 SubmittersRCV000001457 RCV000234813 RCV000418247 RCV001389251 RCV002490292
NM_017777.4(MKS1):c.80+2T>C	SNV Germline	Chr17:58219149	Likely pathogenic	Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1	Criteria Provided Single Submitter	CA342695	rs_386834052	3 SubmittersRCV000022413 RCV000665702
NM_017777.4(MKS1):c.1024+1G>A	SNV Germline	Chr17:58210658	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA342696	rs_199874059	7 SubmittersRCV000022414 RCV000668139 RCV001038005 RCV001570919 RCV003472957
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	SNV Germline	Chr17:58216088	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Familial aplasia of the vermis Condition: not provided Meckel-Gruber syndrome Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 13 MKS1-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA213122	rs_386834048	18 SubmittersRCV000022415 RCV000201633 RCV000341018 RCV000605128 RCV000666711 RCV000694137 RCV001123802 RCV004528065 RCV004018536
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	SNV Germline	Chr17:58206479	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Nystagmus Hypotonia Polydactyly Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Joubert syndrome 28 MKS1-related disorder Meckel syndrome, type 1	Criteria Provided Conflicting Classifications	CA251777	rs_137853105	8 SubmittersRCV000001458 RCV000626942 RCV000665962 RCV001239533 RCV001578018 RCV001729331 RCV004532272 RCV004566669
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln)	SNV Germline	Chr3:94003764	Pathogenic	Joubert syndrome 8	No Assertion Criteria Provided	CA252019	rs_121912606	1 SubmittersRCV000002068
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)	SNV Germline	Chr3:94003774	Pathogenic	Joubert syndrome 8	Criteria Provided Single Submitter	CA252021	rs_121912607	2 SubmittersRCV000002069
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)	SNV Germline	Chr3:94036663	Pathogenic/Likely pathogenic	Joubert syndrome 8 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA252023	rs_121912608	3 SubmittersRCV000002070 RCV003330381
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)	SNV Germline	Chr6:135457594	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA252041	rs_121434348	4 SubmittersRCV000002087 RCV001058641
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr6:135455775	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Single Submitter	CA252043	rs_121434349	2 SubmittersRCV000002088 RCV003495105
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)	SNV Germline	Chr6:135455750	Pathogenic/Likely pathogenic	Joubert syndrome 3 Typical Joubert syndrome MRI findings Global developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA249938	rs_121434350	4 SubmittersRCV000002089 RCV000162132
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)	SNV Germline	Chr6:135447022	Pathogenic	Joubert syndrome 3 Condition: not provided Rod-cone dystrophy Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA252046	rs_267606641	7 SubmittersRCV000002091 RCV000522479 RCV001376341 RCV001380010
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	SNV Germline	Chr6:135433125	Conflicting classifications of pathogenicity	Joubert syndrome 3 Familial aplasia of the vermis Condition: not provided Joubert syndrome with ocular defect	Criteria Provided Conflicting Classifications	CA252048	rs_121434351	8 SubmittersRCV000002092 RCV000463110 RCV001582460 RCV001172382
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	SNV Germline	Chr3:132696798	Pathogenic	Nephronophthisis 3 Nephronophthisis Joubert syndrome and related disorders NPHP3-related Meckel-like syndrome Condition: not provided Nephronophthisis 3 NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1	Criteria Provided Multiple Submitters No Conflicts	CA115660	rs_267606916	9 SubmittersRCV000002759 RCV000234832 RCV002281691 RCV001330459 RCV001529627 RCV002496237
NM_001128178.3(NPHP1):c.1716+1G>T	SNV Germline	Chr2:110129185	Pathogenic	Nephronophthisis 1 Nephronophthisis Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts		rs_1233478832	3 SubmittersRCV000003682 RCV001851623 RCV003466796
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	SNV Germline	Chr2:110163048	Pathogenic	Nephronophthisis 1 Condition: not provided Nephronophthisis NPHP1-related disorder Inborn genetic diseases Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA116310	rs_121907899	12 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV004018547 RCV003466797
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)	SNV Germline	Chr6:135457660	Pathogenic	Joubert syndrome 3 Condition: not provided Retinal dystrophy Familial aplasia of the vermis Joubert syndrome with ocular defect	Criteria Provided Multiple Submitters No Conflicts	CA259900	rs_201391050	6 SubmittersRCV000023739 RCV000255060 RCV001074225 RCV001390240 RCV001172379
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)	SNV Germline	Chr6:135448432	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Single Submitter	CA259902	rs_387907003	2 SubmittersRCV000023740 RCV002513203
NM_001082538.3(TCTN1):c.221-2A>G	SNV Germline	Chr12:110619834	Pathogenic	Joubert syndrome 13	No Assertion Criteria Provided	CA342750	rs_367543065	1 SubmittersRCV000023788
NM_018718.3(CEP41):c.33+2T>G	SNV Germline	Chr7:130440932	Pathogenic	Joubert syndrome 15	No Assertion Criteria Provided		rs_1584916464	1 SubmittersRCV000023823
NM_018718.3(CEP41):c.423-2A>C	SNV Germline	Chr7:130402801	Pathogenic	Joubert syndrome 15	Criteria Provided Multiple Submitters No Conflicts		rs_781815473	3 SubmittersRCV000023825
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)	SNV Germline	Chr7:130427969	Pathogenic	Joubert syndrome 15	No Assertion Criteria Provided		rs_1584901211	1 SubmittersRCV000023829
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)	SNV Germline	Chr19:41354927	Pathogenic	Meckel syndrome, type 10 Joubert syndrome and related disorders	Criteria Provided Single Submitter		rs_1487082103	2 SubmittersRCV000023919 RCV003330400
NM_024809.5(TCTN2):c.1506-2A>G	SNV Germline	Chr12:123699702	Pathogenic/Likely pathogenic	Meckel syndrome, type 8 TCTN2-related disorder Meckel syndrome, type 6 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome and related disorders Joubert syndrome 24	Criteria Provided Multiple Submitters No Conflicts	CA129649	rs_374349989	10 SubmittersRCV000024072 RCV000305893 RCV001261610 RCV000727919 RCV002513219 RCV003993750 RCV003987331
NM_015681.6(B9D1):c.341+2T>C	SNV Germline	Chr17:19347782	Pathogenic/Likely pathogenic	Meckel syndrome, type 9 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 27	Criteria Provided Multiple Submitters No Conflicts	CA129674	rs_143149764	5 SubmittersRCV000024098 RCV000049798 RCV000818541 RCV001270058
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)	SNV Germline	Chr2:201640915	Pathogenic	Joubert syndrome 14 Familial aplasia of the vermis Condition: not provided Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA260000	rs_199469707	11 SubmittersRCV000024179 RCV000034999 RCV001701641 RCV002265568
NM_001044385.3(TMEM237):c.677+1G>T	SNV Germline	Chr2:201629728	Pathogenic	Joubert syndrome 14	No Assertion Criteria Provided	CA260003	rs_793888505	1 SubmittersRCV000024180
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)	SNV Germline	Chr2:201640264	Pathogenic	Joubert syndrome 14	Criteria Provided Single Submitter	CA260005	rs_387907131	2 SubmittersRCV000024182
NM_001044385.3(TMEM237):c.943+1G>T	SNV Germline	Chr2:201628075	Pathogenic	Joubert syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA260008	rs_748510210	4 SubmittersRCV000024183
NM_016464.5(TMEM138):c.128+5G>A	SNV Germline	Chr11:61364523	Pathogenic/Likely pathogenic	Joubert syndrome 16 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts		rs_917404097	3 SubmittersRCV000024186 RCV002271376
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)	SNV Germline	Chr11:61366203	Pathogenic/Likely pathogenic	Joubert syndrome 16 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260009	rs_387907132	5 SubmittersRCV000024187 RCV000423402
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)	SNV Germline	Chr11:61368600	Pathogenic	Joubert syndrome 16	Criteria Provided Single Submitter	CA260010	rs_387907133	2 SubmittersRCV000024188
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)	SNV Germline	Chr11:61367998	Pathogenic	Joubert syndrome 16	No Assertion Criteria Provided	CA260011	rs_387907134	1 SubmittersRCV000024189
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	SNV Germline	Chr11:61368609	Conflicting classifications of pathogenicity	Joubert syndrome 16	Criteria Provided Conflicting Classifications	CA260012	rs_387907135	4 SubmittersRCV000024190
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)	SNV Germline	Chr5:37187488	Pathogenic/Likely pathogenic	Joubert syndrome 17 Condition: not provided Joubert syndrome and related disorders Joubert syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA342791	rs_367543061	9 SubmittersRCV000024218 RCV000522403 RCV002271377 RCV003444055
NM_001384732.1(CPLANE1):c.7400+1G>A	SNV Germline	Chr5:37167046	Pathogenic	Joubert syndrome 17 Joubert syndrome 17 Orofaciodigital syndrome type 6 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA342792	rs_367543062	5 SubmittersRCV000024219 RCV000763545 RCV004526599
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)	SNV Germline	Chr5:37183377	Pathogenic	Joubert syndrome 17 Condition: not provided Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA342794	rs_367543063	4 SubmittersRCV000024221 RCV001781313 RCV002496440
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	SNV Germline	Chr5:37165595	Pathogenic	Joubert syndrome 17 Orofaciodigital syndrome type 6 Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342796	rs_139675596	8 SubmittersRCV000024222 RCV000763544 RCV001551136
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)	SNV Germline	Chr5:37157382	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA344567	rs_111294855	4 SubmittersRCV000034938 RCV003326332
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter)	SNV Germline	Chr10:95682776	Pathogenic	Orofacial-digital syndrome IV Orofacial-digital syndrome IV Joubert syndrome 18	Criteria Provided Single Submitter	CA130048	rs_387907273	2 SubmittersRCV000030712 RCV001852611
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg)	SNV Germline	Chr10:95685585	Pathogenic	Joubert syndrome 18	No Assertion Criteria Provided	CA130052	rs_793888508	1 SubmittersRCV000030715
NM_001379286.1(ZNF423):c.3853C>T (p.His1285Tyr)	SNV Germline	Chr16:49491301	Pathogenic	Joubert syndrome 19	No Assertion Criteria Provided		rs_1596988259	1 SubmittersRCV000030828
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)	SNV Germline	Chr16:75556198	Conflicting classifications of pathogenicity	Joubert syndrome 20 Joubert syndrome 20 Meckel syndrome, type 11 not specified	Criteria Provided Conflicting Classifications	CA130590	rs_397514609	3 SubmittersRCV000033041 RCV002513310 RCV001778672
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)	SNV Germline	Chr16:75542641	Conflicting classifications of pathogenicity	Joubert syndrome 20 Condition: not provided Meckel syndrome, type 11 Joubert syndrome 20 Joubert syndrome and related disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA130593	rs_200799769	6 SubmittersRCV000033042 RCV000255979 RCV000543480 RCV003155046 RCV002513311
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	SNV Germline	ChrX:13736487	Pathogenic	Orofaciodigital syndrome I Familial aplasia of the vermis Orofaciodigital syndrome I Joubert syndrome 10 Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA343958	rs_312262810	2 SubmittersRCV001383219 RCV002496509
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)	SNV Germline	Chr4:15567729	Pathogenic/Likely pathogenic	Meckel syndrome, type 6 Joubert syndrome 9 Polydactyly Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144225	rs_386833752	5 SubmittersRCV000049716 RCV000201581 RCV001007916 RCV001539860 RCV002514252
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	SNV Germline	Chr11:61397797	Pathogenic/Likely pathogenic	Meckel syndrome, type 2 Joubert syndrome 2 Condition: not provided Familial aplasia of the vermis TMEM216-related disorder Joubert syndrome 2 Meckel syndrome, type 2	Criteria Provided Multiple Submitters No Conflicts	CA144308	rs_11230683	12 SubmittersRCV000049797 RCV000201650 RCV000760437 RCV000822982 RCV000779067 RCV001787335
NM_017777.4(MKS1):c.515+1G>A	SNV Germline	Chr17:58214740	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA344762	rs_201933838	6 SubmittersRCV000050037 RCV000671081 RCV001220121 RCV003474636
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	10 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002504949 RCV002285263 RCV003460645
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	SNV Germline	Chr8:93781725	Pathogenic/Likely pathogenic	Meckel syndrome, type 3 Meckel-Gruber syndrome Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome TMEM67-related disorder Condition: not provided 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA144430	rs_386834180	9 SubmittersRCV000050175 RCV000114240 RCV000201777 RCV000560903 RCV000778866 RCV001267954 RCV002477175
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	SNV Germline	Chr8:93786253	Pathogenic/Likely pathogenic	Meckel syndrome, type 3 Condition: not provided Joubert syndrome and related disorders Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144435	rs_386834182	7 SubmittersRCV000050177 RCV000430117 RCV001804788 RCV001853069
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)	SNV Germline	Chr8:93772612	Pathogenic	Meckel syndrome, type 3 Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144494	rs_386834205	3 SubmittersRCV000050200 RCV000201769 RCV002514272
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)	SNV Germline	Chr6:135457593	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA264217	rs_397514726	2 SubmittersRCV000054427
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)	SNV Germline	Chr16:75542602	Pathogenic/Likely pathogenic	Meckel syndrome, type 11 Meckel-Gruber syndrome Condition: not provided TMEM231-related disorder Joubert syndrome 20 Meckel syndrome, type 11 Joubert syndrome 20	Criteria Provided Multiple Submitters No Conflicts	CA144704	rs_397514753	7 SubmittersRCV000054806 RCV000162154 RCV001781386 RCV003915018 RCV003987343 RCV003764728
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)	SNV Germline	Chr16:75540130	Likely pathogenic	Meckel syndrome, type 11 Joubert syndrome and related disorders	Criteria Provided Single Submitter	CA144706	rs_397514754	2 SubmittersRCV000054807 RCV003387749
NM_001128178.3(NPHP1):c.771+2C>T	SNV Germline	Chr2:110164686	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220570	rs_189320299	5 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380
NM_015272.5(RPGRIP1L):c.2153-4G>C	SNV Germline	Chr16:53649119	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA223182	rs_201380599	7 SubmittersRCV000081722 RCV000636978 RCV001118787 RCV001120738 RCV001120739 RCV001573698
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)	SNV Germline	Chr16:53641066	Conflicting classifications of pathogenicity	not specified Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Condition: not provided RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA148755	rs_144313291	8 SubmittersRCV000081725 RCV000323400 RCV000280063 RCV000372251 RCV000547462 RCV001271273 RCV002262625 RCV004528293
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	SNV Germline	Chr12:88086456	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000366483 RCV000351974 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)	SNV Germline	Chr3:132692760	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome and related disorders Nephronophthisis NPHP3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA201362	rs_398124546	4 SubmittersRCV000175246 RCV002281916 RCV002513853 RCV004528299
NM_014714.4(IFT140):c.874G>A (p.Val292Met)	SNV Germline	Chr16:1587961	Pathogenic	Saldino-Mainzer syndrome Jeune thoracic dystrophy Saldino-Mainzer syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA149747	rs_431905521	5 SubmittersRCV000083297 RCV000515922 RCV000626469 RCV004579537
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227967	rs_62640581	7 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)	SNV Germline	Chr8:67158540	Pathogenic	Joubert syndrome 21	Criteria Provided Multiple Submitters No Conflicts	CA150605	rs_587777138	3 SubmittersRCV000087066
NM_001382391.1(CSPP1):c.2968+1G>A	SNV Germline	Chr8:67172556	Pathogenic	Joubert syndrome 21	Criteria Provided Multiple Submitters No Conflicts	CA150610	rs_587777142	3 SubmittersRCV000087070
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)	SNV Germline	Chr8:67095440	Pathogenic	Joubert syndrome 21	Criteria Provided Multiple Submitters No Conflicts	CA150612	rs_375113643	4 SubmittersRCV000087072
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)	SNV Germline	Chr8:67095434	Pathogenic	Joubert syndrome 21	No Assertion Criteria Provided	CA150616	rs_587777146	1 SubmittersRCV000087075
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)	SNV Germline	Chr8:67164468	Pathogenic	Joubert syndrome 21	No Assertion Criteria Provided	CA150618	rs_537456518	1 SubmittersRCV000087076
NM_002601.4(PDE6D):c.140-1G>A	SNV Germline	Chr2:231738139	Pathogenic	Joubert syndrome 22	No Assertion Criteria Provided	CA150641	rs_587777156	1 SubmittersRCV000087137
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)	SNV Germline	Chr4:15533245	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 9 Meckel syndrome, type 6 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA150849	rs_144439937	11 SubmittersRCV000114164 RCV000423044 RCV001149500 RCV001149501 RCV001082503
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)	SNV Germline	Chr4:15557482	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome not specified COACH syndrome 1 Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 6 Condition: not provided Joubert syndrome 9 CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA150861	rs_187003641	8 SubmittersRCV000114170 RCV000176277 RCV000515156 RCV000636974 RCV001146036 RCV001719852 RCV001146035 RCV004529912
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)	SNV Germline	Chr12:123686870	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 8 Joubert syndrome 24 Condition: not provided	Criteria Provided Conflicting Classifications	CA150964	rs_79251326	8 SubmittersRCV000114230 RCV000204827 RCV000625192 RCV001110871 RCV003390794
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)	SNV Germline	Chr8:93799678	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11	Criteria Provided Conflicting Classifications	CA150995	rs_116445698	8 SubmittersRCV000114245 RCV000419164 RCV001079645 RCV001163245 RCV001163246 RCV001163247
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)	SNV Germline	Chr9:136430288	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Joubert syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA153166	rs_10870182	10 SubmittersRCV000117270 RCV000308485 RCV001095306 RCV001311042
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)	SNV Germline	Chr10:102615290	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma Joubert syndrome 32 Gorlin syndrome Medulloblastoma Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA162216	rs_368178771	7 SubmittersRCV000122098 RCV000471241 RCV000562404 RCV000763642 RCV000726658 RCV003460861
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)	SNV Germline	Chr10:102615273	Conflicting classifications of pathogenicity	not specified Medulloblastoma Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma Joubert syndrome 32 Gorlin syndrome Medulloblastoma Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA162222	rs_79299301	9 SubmittersRCV000122100 RCV000260834 RCV000466509 RCV000566455 RCV000763641 RCV001354923 RCV003467081
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Kidney disorder Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000266641 RCV000297299 RCV000262275 RCV000321698 RCV000361419 RCV000475858 RCV001274128 RCV002294036 RCV002505080
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000279934 RCV000337209 RCV000375509 RCV000372128 RCV000459124 RCV000293222 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Kidney disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	7 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV002294038 RCV001812002
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Joubert syndrome 1 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001109949 RCV001109950 RCV001110732 RCV001110731 RCV001272010 RCV003888568
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	6 SubmittersRCV000144459 RCV002492522 RCV001384909 RCV003387770 RCV003467201 RCV003888575
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	SNV Germline	Chr6:135433119	Pathogenic/Likely pathogenic	Joubert syndrome 3 Leber congenital amaurosis Retinitis pigmentosa Condition: not provided Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA270780	rs_587783013	10 SubmittersRCV000144464 RCV001262092 RCV000678521 RCV001698972 RCV003495112
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr12:88089157	Pathogenic	Leber congenital amaurosis 10 Joubert syndrome 5 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277711	rs_587783016	5 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)	SNV Germline	Chr5:37201718	Pathogenic/Likely pathogenic	Orofaciodigital syndrome type 6 Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA170947	rs_375009168	5 SubmittersRCV000144860 RCV000501748 RCV000521353
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)	SNV Germline	Chr5:37182760	Conflicting classifications of pathogenicity	Joubert syndrome 17 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA271181	rs_149313666	11 SubmittersRCV000145369 RCV000248133 RCV000430074
NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr)	SNV Germline	Chr5:37138838	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA271185	rs_201404524	3 SubmittersRCV000145385 RCV002055874
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)	SNV Germline	Chr12:110640479	Conflicting classifications of pathogenicity	Joubert syndrome 13 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA272717	rs_199529768	2 SubmittersRCV000147738 RCV002055937
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)	SNV Germline	Chr12:88086443	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000390170 RCV000373904 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV001110739 RCV001079764 RCV001109956 RCV001110741 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	14 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	SNV Germline	Chr12:88060951	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	SNV Germline	Chr2:110178520	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA234415	rs_140446520	8 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)	SNV Germline	Chr16:53649028	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Nephronophthisis 8 Joubert syndrome 7 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA233780	rs_142349647	7 SubmittersRCV000327884 RCV000284497 RCV000384916 RCV000723738 RCV001085401 RCV001831948 RCV004528883
NM_001378615.1(CC2D2A):c.1017+1G>A	SNV Germline	Chr4:15516005	Pathogenic/Likely pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210291	rs_200407856	4 SubmittersRCV000198057 RCV000201663 RCV000597652
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)	SNV Germline	Chr4:15516648	Conflicting classifications of pathogenicity	CC2D2A-related disorder Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA233625	rs_371086728	6 SubmittersRCV000281217 RCV000316406 RCV000375703 RCV000723801 RCV001088003
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=)	SNV Germline	Chr4:15586186	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 6 Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA233634	rs_199688524	3 SubmittersRCV000152940 RCV000313289 RCV000407945 RCV001089089
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000344957 RCV000399776 RCV000291841 RCV000400108 RCV000346891 RCV001085341 RCV003888583
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)	SNV Germline	Chr16:53622279	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA234809	rs_146902870	8 SubmittersRCV000252274 RCV000475862 RCV001116966 RCV001116965 RCV001116967 RCV001704116 RCV002294053
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	SNV Germline	Chr17:58206158	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Microcephaly Meckel syndrome, type 1 not specified Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1	Criteria Provided Conflicting Classifications	CA273756	rs_199910690	8 SubmittersRCV000161135 RCV000324288 RCV001082780 RCV001252740 RCV001272920 RCV001797645 RCV002467638
NM_001044385.3(TMEM237):c.869+1G>A	SNV Germline	Chr2:201629229	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA186067	rs_730882231	4 SubmittersRCV000162151 RCV001332730
NM_001082538.3(TCTN1):c.342-2A>G	SNV Germline	Chr12:110626360	Pathogenic	Typical Joubert syndrome MRI findings Global developmental delay Joubert syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA249937	rs_730882221	5 SubmittersRCV000162131 RCV000201626
NM_015272.5(RPGRIP1L):c.230+1G>A	SNV Germline	Chr16:53696150	Likely pathogenic	Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA334279	rs_786204135	3 SubmittersRCV000168110 RCV001378306 RCV001536099
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)	SNV Germline	Chr17:58216694	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1	Criteria Provided Conflicting Classifications	CA334638	rs_786204222	2 SubmittersRCV000168353 RCV000665745
NM_001378615.1(CC2D2A):c.4437+1G>A	SNV Germline	Chr4:15596208	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA236210	rs_786205568	2 SubmittersRCV000171374 RCV003987411
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)	SNV Germline	Chr16:75556131	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 20 Meckel syndrome, type 11 TMEM231-related disorder	Criteria Provided Conflicting Classifications	CA238655	rs_370607340	4 SubmittersRCV000173201 RCV001430941 RCV003965240
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)	SNV Germline	Chr11:61392636	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel syndrome, type 2 Joubert syndrome 2 TMEM216-related disorder	Criteria Provided Conflicting Classifications	CA238698	rs_569734777	5 SubmittersRCV000173235 RCV000345023 RCV000391281 RCV001094053 RCV004535185
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)	SNV Germline	Chr8:93754939	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 1 Condition: not provided 6 conditions TMEM67-related disorder	Criteria Provided Conflicting Classifications	CA200630	rs_199961375	7 SubmittersRCV000173581 RCV000860917 RCV000988093 RCV001704249 RCV002485119 RCV004539599
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	SNV Germline	Chr2:110161690	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA239098	rs_371112962	4 SubmittersRCV000173662 RCV000305677 RCV000390136 RCV000353470 RCV001094562
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)	SNV Germline	Chr2:110161645	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications	CA239100	rs_794726975	3 SubmittersRCV000173663 RCV001852113 RCV002500458
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)	SNV Germline	Chr16:53664957	Conflicting classifications of pathogenicity	Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 1 Familial aplasia of the vermis Inborn genetic diseases RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA239324	rs_137982921	10 SubmittersRCV000307599 RCV000339807 RCV000401583 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)	SNV Germline	Chr5:37227308	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA239661	rs_374411782	7 SubmittersRCV000325656 RCV000724006 RCV001193382
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)	SNV Germline	Chr5:37227353	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200857	rs_139940282	5 SubmittersRCV000174162 RCV000361636 RCV000646719 RCV004020065
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)	SNV Germline	Chr8:93782407	Conflicting classifications of pathogenicity	not specified Joubert syndrome 1 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome TMEM67-related disorder	Criteria Provided Conflicting Classifications	CA200867	rs_140191346	7 SubmittersRCV000174181 RCV000988094 RCV001356583 RCV001409831 RCV004539607
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)	SNV Germline	Chr12:110645106	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 13	Criteria Provided Conflicting Classifications	CA239794	rs_201894544	5 SubmittersRCV000243338 RCV000724004 RCV001085845 RCV003137704
NM_017777.4(MKS1):c.1025-2A>C	SNV Germline	Chr17:58208585	Pathogenic/Likely pathogenic	Condition: not provided Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA346858	rs_794727070	4 SubmittersRCV000174384 RCV000671535 RCV003474925 RCV004537366
NM_001128178.3(NPHP1):c.1270-4C>T	SNV Germline	Chr2:110146839	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA240230	rs_151204566	8 SubmittersRCV000174670 RCV000230927 RCV001128802 RCV001128804 RCV001128803 RCV001699052
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)	SNV Germline	Chr5:37221446	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17	Criteria Provided Conflicting Classifications	CA240601	rs_794727154	2 SubmittersRCV000174951 RCV000611123
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Condition: not provided Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV000835406 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001084413 RCV001112002
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)	SNV Germline	Chr4:15537971	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 6 COACH syndrome 1 Joubert syndrome 9 Meckel syndrome, type 6 Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240849	rs_201439617	7 SubmittersRCV000724892 RCV000765755 RCV001147083 RCV001147084 RCV001479910 RCV004020077
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)	SNV Germline	Chr4:15538112	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 6 Condition: not provided Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA206244	rs_16892134	10 SubmittersRCV000193025 RCV000351496 RCV000514696 RCV000404783 RCV001083444
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)	SNV Germline	Chr16:53645665	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 5 Joubert syndrome 7 Nephronophthisis 8 RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA201346	rs_139503476	7 SubmittersRCV000175209 RCV000514096 RCV001082641 RCV001120643 RCV001120644 RCV001120642 RCV004537378
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)	SNV Germline	Chr4:15540872	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 9 Meckel syndrome, type 6 Familial aplasia of the vermis Meckel-Gruber syndrome COACH syndrome 1 CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA241005	rs_200236654	5 SubmittersRCV000175281 RCV001145223 RCV001145224 RCV001239969 RCV001329599 RCV004537379
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)	SNV Germline	Chr4:15540994	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 1 Meckel syndrome, type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA201373	rs_199768782	7 SubmittersRCV000175282 RCV000860615 RCV000987417 RCV001147192 RCV003436969
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)	SNV Germline	Chr5:37187826	Conflicting classifications of pathogenicity	Joubert syndrome 17 not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242230	rs_145520487	9 SubmittersRCV000201620 RCV000254359 RCV000724250 RCV004020091
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)	SNV Germline	Chr2:165890935	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Chronic kidney disease Nephronophthisis 12 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA201936	rs_146496725	12 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001085304 RCV001135581 RCV001171333 RCV001135582 RCV002277374
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)	SNV Germline	Chr5:37184881	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242574	rs_202103224	5 SubmittersRCV000176587 RCV001153832 RCV004020097
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	SNV Germline	Chr12:88102849	Conflicting classifications of pathogenicity	Condition: not provided not specified Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	10 SubmittersRCV000176690 RCV000192651 RCV000660467 RCV001082205 RCV001111528 RCV001111529 RCV001113514 RCV001113515 RCV001275025 RCV004528939
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)	SNV Germline	Chr11:61393958	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Joubert syndrome 2	Criteria Provided Conflicting Classifications	CA202293	rs_57932685	5 SubmittersRCV000177125 RCV000533045 RCV001279272
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)	SNV Germline	Chr5:37175959	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA243792	rs_34161326	7 SubmittersRCV000317281 RCV000724144
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	SNV Germline	Chr12:88089407	Conflicting classifications of pathogenicity	not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000320490 RCV000328615 RCV000364677 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)	SNV Germline	Chr5:37245595	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245417	rs_139496915	4 SubmittersRCV000178339 RCV001152760 RCV004020121
NM_001384732.1(CPLANE1):c.8462-1G>C	SNV Germline	Chr5:37142481	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17 not specified Inborn genetic diseases See cases Orofaciodigital syndrome type 6	Criteria Provided Conflicting Classifications	CA275274	rs_151279194	10 SubmittersRCV000178539 RCV000778764 RCV001824663 RCV004020124 RCV002287379 RCV003457649
NM_001384732.1(CPLANE1):c.8958+4A>C	SNV Germline	Chr5:37125240	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided CPLANE1-related disorder	Criteria Provided Conflicting Classifications	CA245783	rs_199810663	8 SubmittersRCV000247706 RCV000321409 RCV000428354 RCV003891741
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)	SNV Germline	Chr2:201633358	Conflicting classifications of pathogenicity	not specified Joubert syndrome 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA203261	rs_191125006	9 SubmittersRCV000179367 RCV000625459 RCV001704855
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)	SNV Germline	Chr2:165941046	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA246806	rs_149925563	9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001087340 RCV001132638 RCV001132639 RCV004537489
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)	SNV Germline	Chr12:123686991	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel syndrome, type 8 Joubert syndrome 24 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA246813	rs_149430216	7 SubmittersRCV000249746 RCV000724485 RCV001114227 RCV001110188 RCV001086250
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)	SNV Germline	Chr12:123686886	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 8 Joubert syndrome 24 Condition: not provided	Criteria Provided Conflicting Classifications	CA203333	rs_147485641	6 SubmittersRCV000179535 RCV000556780 RCV001112868 RCV001112867 RCV001550115
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV000179537 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV003227695 RCV003888636 RCV003488430 RCV004539683
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	11 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)	SNV Germline	Chr4:15502836	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 6 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA203454	rs_186264635	6 SubmittersRCV000179808 RCV000416151 RCV001082663 RCV001147861 RCV001147862
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)	SNV Germline	Chr4:15502840	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA247115	rs_202150325	9 SubmittersRCV000248937 RCV000275309 RCV000365106 RCV000724326 RCV001082303
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)	SNV Germline	Chr12:123688096	Conflicting classifications of pathogenicity	not specified Joubert syndrome 24 Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA203516	rs_144567556	7 SubmittersRCV000179977 RCV000275193 RCV000465788 RCV000327984 RCV001721126
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)	SNV Germline	Chr6:135457612	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 3 Familial aplasia of the vermis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA247748	rs_200927282	5 SubmittersRCV000250813 RCV000724880 RCV001155546 RCV001206260 RCV002517761
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)	SNV Germline	Chr5:37231020	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17	Criteria Provided Conflicting Classifications	CA248228	rs_373704405	4 SubmittersRCV000180684 RCV000201580
NM_001329943.3(KIAA0586):c.1254-1G>C	SNV Germline	Chr14:58456701	Pathogenic	Joubert syndrome 23 Condition: not provided Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23	Criteria Provided Multiple Submitters No Conflicts	CA204047	rs_757350052	8 SubmittersRCV000186591 RCV000479178 RCV000652577
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter)	SNV Germline	Chr14:58450617	Pathogenic	Joubert syndrome 23 Condition: not provided KIAA0586-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA204048	rs_796052128	4 SubmittersRCV000186592 RCV002272164 RCV003401023
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val)	SNV Germline	Chr14:58457934	Pathogenic	Joubert syndrome 23	Criteria Provided Single Submitter	CA204051	rs_796052129	2 SubmittersRCV000186594
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)	SNV Germline	Chr10:95686506	Pathogenic	Orofacial-digital syndrome IV Orofacial-digital syndrome IV Joubert syndrome 18	Criteria Provided Multiple Submitters No Conflicts	CA204583	rs_764091969	2 SubmittersRCV000190630 RCV002517029
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)	SNV Germline	Chr14:58458545	Pathogenic	Short-rib thoracic dysplasia 14 with polydactyly Condition: not provided Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23	Criteria Provided Multiple Submitters No Conflicts	CA214896	rs_762081862	4 SubmittersRCV000190841 RCV001268478 RCV001389448
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)	SNV Germline	Chr2:201626120	Conflicting classifications of pathogenicity	not specified Joubert syndrome 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA209023	rs_149240122	8 SubmittersRCV000194685 RCV000558256 RCV001706169
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)	SNV Germline	Chr4:15538112	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 9 Meckel syndrome, type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA208880	rs_16892134	5 SubmittersRCV000194608 RCV000862063 RCV001149616 RCV001149617 RCV001705077
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)	SNV Germline	Chr4:15557361	Pathogenic/Likely pathogenic	Joubert syndrome 9 COACH syndrome 1 Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome CC2D2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA209079	rs_764719093	6 SubmittersRCV000194720 RCV000763523 RCV003238731 RCV003765214 RCV004528978
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)	SNV Germline	Chr4:15580068	Conflicting classifications of pathogenicity	not specified Joubert syndrome 9 Meckel syndrome, type 6 Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA205784	rs_370492044	6 SubmittersRCV000192749 RCV000293449 RCV000348318 RCV001521745 RCV001697269 RCV004541237
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)	SNV Germline	Chr4:15589661	Conflicting classifications of pathogenicity	not specified Joubert syndrome 9 Meckel syndrome, type 6 CC2D2A-related disorder Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA209579	rs_372671421	8 SubmittersRCV000195028 RCV000301860 RCV000361304 RCV000265440 RCV000727171 RCV001428613
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)	SNV Germline	Chr5:37138722	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 17 CPLANE1-related disorder	Criteria Provided Conflicting Classifications	CA208963	rs_148005445	8 SubmittersRCV000194651 RCV000878808 RCV001157836 RCV003927768
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)	SNV Germline	Chr5:37183664	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA206075	rs_141911199	9 SubmittersRCV000192922 RCV000625259 RCV000726605
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)	SNV Germline	Chr6:135433206	Likely pathogenic	Joubert syndrome 3 Retinitis pigmentosa	Criteria Provided Single Submitter	CA277462	rs_797045224	2 SubmittersRCV000195247 RCV000504798
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)	SNV Germline	Chr6:135442633	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA277278	rs_797045223	4 SubmittersRCV000194226 RCV000599258 RCV000820311
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	SNV Germline	Chr8:93755851	Conflicting classifications of pathogenicity	not specified Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA205731	rs_797046045	3 SubmittersRCV000192720 RCV000201747 RCV003765239
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)	SNV Germline	Chr9:136433044	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Joubert syndrome 1 Condition: not provided INPP5E-related disorder	Criteria Provided Conflicting Classifications	CA205994	rs_558778286	5 SubmittersRCV000192872 RCV000285933 RCV001095354 RCV003430742 RCV004530118
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)	SNV Germline	Chr9:136434801	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Joubert syndrome 1 Inborn genetic diseases INPP5E-related disorder	Criteria Provided Conflicting Classifications	CA209401	rs_199873582	6 SubmittersRCV000194920 RCV001044083 RCV001166425 RCV002517084 RCV004528981
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)	SNV Germline	Chr16:53641352	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided Joubert syndrome 7 Inborn genetic diseases Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA207998	rs_146197239	10 SubmittersRCV000194076 RCV000861106 RCV001117062 RCV001117063 RCV001698998 RCV001117064 RCV002517128 RCV001833139
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)	SNV Germline	Chr16:53687963	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 5 Joubert syndrome 7 Nephronophthisis 8 Familial aplasia of the vermis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206389	rs_140067659	9 SubmittersRCV000193122 RCV000861107 RCV001120944 RCV001120942 RCV001120943 RCV001271340 RCV001699228 RCV004020339
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)	SNV Germline	Chr16:75540054	Conflicting classifications of pathogenicity	not specified Joubert syndrome 20 Meckel syndrome, type 11	Criteria Provided Conflicting Classifications	CA207208	rs_149888762	4 SubmittersRCV000193611 RCV000650611
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	SNV Germline	Chr17:58212996	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 13 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA347417	rs_797045706	4 SubmittersRCV000194216 RCV000672938 RCV003474946 RCV003765230
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)	SNV Germline	ChrX:13763840	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Orofaciodigital syndrome I Simpson-Golabi-Behmel syndrome type 2 Orofaciodigital syndrome I Retinitis pigmentosa 23 Joubert syndrome 10 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA205192	rs_797045846	4 SubmittersRCV000192398 RCV001223911 RCV002485287 RCV004020331
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	SNV Germline	Chr12:88086450	Likely pathogenic	Senior-Loken syndrome 6 Bardet-Biedl syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5	No Assertion Criteria Provided	CA347348	rs_797044604	1 SubmittersRCV000192446
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)	SNV Germline	Chr2:110123964	Conflicting classifications of pathogenicity	Nephronophthisis Condition: not provided Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect not specified Inborn genetic diseases Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA336743	rs_780427871	6 SubmittersRCV000196832 RCV000730183 RCV001128696 RCV001135698 RCV001128695 RCV002282034 RCV002517295 RCV002478707
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)	SNV Germline	Chr4:15563386	Conflicting classifications of pathogenicity	Joubert syndrome 9 Condition: not provided Meckel syndrome, type 6 Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 6 Joubert syndrome 9 COACH syndrome 2 CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA338306	rs_373960465	8 SubmittersRCV000350715 RCV000344416 RCV000405623 RCV001087622 RCV002227457 RCV004530191
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)	SNV Germline	Chr6:135318527	Conflicting classifications of pathogenicity	Familial aplasia of the vermis not specified Joubert syndrome 3 Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA335852	rs_201148693	5 SubmittersRCV000195696 RCV000248598 RCV001157001 RCV001252130 RCV001596984
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)	SNV Germline	Chr6:135457656	Conflicting classifications of pathogenicity	Familial aplasia of the vermis not specified Joubert syndrome 3 Condition: not provided Inborn genetic diseases AHI1-related disorder	Criteria Provided Conflicting Classifications	CA338680	rs_200201741	8 SubmittersRCV000199507 RCV000346238 RCV001157230 RCV001576697 RCV002517286 RCV003927849
NM_153704.6(TMEM67):c.186T>C (p.Cys62=)	SNV Germline	Chr8:93755100	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome not specified Meckel syndrome, type 3 Joubert syndrome 6 Nephronophthisis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA336379	rs_115660279	6 SubmittersRCV000196386 RCV000245192 RCV000291370 RCV000339372 RCV000377674 RCV001705157
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	SNV Germline	Chr8:93780603	Pathogenic/Likely pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 6 Inborn genetic diseases Condition: not provided Abnormality of the nervous system COACH syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA277789	rs_775883520	9 SubmittersRCV000198666 RCV000201726 RCV000624166 RCV001090385 RCV001814102 RCV002283466
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)	SNV Unknown	Chr3:93995879	Pathogenic	Joubert syndrome 8	Criteria Provided Single Submitter	CA279441	rs_863225149	1 SubmittersRCV000201642
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)	SNV Germline	Chr3:94035411	Conflicting classifications of pathogenicity	Joubert syndrome 8 not specified	Criteria Provided Conflicting Classifications	CA277722	rs_758972393	3 SubmittersRCV000201595 RCV002282036
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)	SNV Germline	Chr4:15533284	Pathogenic/Likely pathogenic	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 6 COACH syndrome 1 Joubert syndrome 9 Meckel syndrome, type 6 Joubert syndrome 9 COACH syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA210275	rs_781252161	4 SubmittersRCV000201589 RCV000458965 RCV000763522 RCV001814111
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)	SNV Germline	Chr4:15536988	Pathogenic	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210253	rs_754221308	2 SubmittersRCV000201529 RCV002515475
NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter)	SNV Unknown	Chr4:15555209	Pathogenic	Joubert syndrome 9	Criteria Provided Single Submitter	CA210272	rs_200904521	1 SubmittersRCV000201574
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys)	SNV Germline	Chr4:15557349	Pathogenic	Joubert syndrome 9 Neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA279541	rs_863225178	2 SubmittersRCV000201758 RCV003389049
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)	SNV Germline	Chr4:15560607	Pathogenic	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210338	rs_773881370	3 SubmittersRCV000201775 RCV001853233
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)	SNV Germline	Chr4:15563395	Pathogenic/Likely pathogenic	Joubert syndrome 9 Condition: not provided Meckel syndrome, type 6 Joubert syndrome 9 COACH syndrome 1 Familial aplasia of the vermis Meckel-Gruber syndrome CC2D2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210269	rs_370880399	9 SubmittersRCV000201572 RCV000489696 RCV000763524 RCV000702498 RCV000778722
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)	SNV Germline	Chr4:15563474	Pathogenic	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279522	rs_863225173	2 SubmittersRCV000201741 RCV003765303
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)	SNV Germline	Chr4:15567482	Conflicting classifications of pathogenicity	Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis Ciliopathy	Criteria Provided Conflicting Classifications	CA279501	rs_863225169	3 SubmittersRCV000201720 RCV001234448 RCV003993887
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)	SNV Germline	Chr4:15569346	Conflicting classifications of pathogenicity	Joubert syndrome 9 not specified	Criteria Provided Conflicting Classifications	CA279438	rs_863225170	2 SubmittersRCV000201640 RCV003330577
NM_001378615.1(CC2D2A):c.3594+5G>A	SNV Germline	Chr4:15570501	Conflicting classifications of pathogenicity	Joubert syndrome 9 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA279555	rs_863225181	3 SubmittersRCV000201770 RCV000319494 RCV001853234
NM_001378615.1(CC2D2A):c.3772-1G>T	SNV Unknown	Chr4:15579967	Pathogenic	Joubert syndrome 9	Criteria Provided Single Submitter	CA279449	rs_863225172	1 SubmittersRCV000201649
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)	SNV Germline	Chr4:15580046	Pathogenic/Likely pathogenic	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA210258	rs_779823379	4 SubmittersRCV000201552 RCV001853232 RCV001261604
NM_001378615.1(CC2D2A):c.3976-3C>A	SNV Germline	Chr4:15586154	Conflicting classifications of pathogenicity	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA210298	rs_576298659	2 SubmittersRCV000201676 RCV002519579
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)	SNV Germline	Chr4:15586170	Conflicting classifications of pathogenicity	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA210320	rs_763486732	4 SubmittersRCV000201714 RCV001067961 RCV003323453 RCV003144159
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)	SNV Germline	Chr4:15589591	Pathogenic/Likely pathogenic	Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA279416	rs_863225176	2 SubmittersRCV000201617
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)	SNV Germline	Chr4:15589654	Pathogenic/Likely pathogenic	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279397	rs_863225168	2 SubmittersRCV000201598 RCV003765301
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)	SNV Unknown	Chr4:15597460	Pathogenic	Joubert syndrome 9	Criteria Provided Single Submitter	CA279430	rs_863225179	1 SubmittersRCV000201637
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)	SNV Germline	Chr4:15599632	Conflicting classifications of pathogenicity	Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA210287	rs_778858648	2 SubmittersRCV000201634 RCV000541700
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)	SNV Germline	Chr4:15599699	Pathogenic/Likely pathogenic	Joubert syndrome 9 Condition: not provided Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome CC2D2A-related disorder Inborn genetic diseases COACH syndrome 1 Neurodevelopmental disorder Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA210318	rs_201502401	15 SubmittersRCV000201706 RCV000286210 RCV000347415 RCV000474430 RCV000778102 RCV001266486 RCV001542750 RCV002277554 RCV003317149
NM_001378615.1(CC2D2A):c.4741A>G (p.Thr1581Ala)	SNV Unknown	Chr4:15601303	Pathogenic	Joubert syndrome 9	Criteria Provided Single Submitter	CA279482	rs_863225174	1 SubmittersRCV000201684
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)	SNV Germline	Chr5:37120306	Pathogenic/Likely pathogenic	Joubert syndrome 17 Condition: not provided Orofaciodigital syndrome type 6 Joubert syndrome 17 Familial aplasia of the vermis See cases Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA277758	rs_374144275	9 SubmittersRCV000201669 RCV000357854 RCV000697060 RCV001849341 RCV002252055 RCV002298520
NM_001384732.1(CPLANE1):c.9017+1G>T	SNV Unknown	Chr5:37122429	Pathogenic	Joubert syndrome 17	Criteria Provided Single Submitter	CA279532	rs_863225154	1 SubmittersRCV000201749
NM_001384732.1(CPLANE1):c.9017+1G>A	SNV Germline	Chr5:37122429	Pathogenic/Likely pathogenic	Joubert syndrome 17 Joubert syndrome 1 Orofaciodigital syndrome type 6 Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279466	rs_863225154	4 SubmittersRCV000201659 RCV000987513 RCV002500627 RCV001857740
NM_001384732.1(CPLANE1):c.8878G>T (p.Glu2960Ter)	SNV Unknown	Chr5:37125324	Pathogenic	Joubert syndrome 17	Criteria Provided Single Submitter	CA279349	rs_863225153	1 SubmittersRCV000201530
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)	SNV Germline	Chr5:37125330	Pathogenic	Joubert syndrome 17 Condition: not provided Joubert syndrome 17 Orofaciodigital syndrome type 6 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA277713	rs_141507441	8 SubmittersRCV000201591 RCV000523918 RCV002503790 RCV004020485
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter)	SNV Germline	Chr5:37138742	Pathogenic	Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279534	rs_863225155	3 SubmittersRCV000201751 RCV000432168
NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter)	SNV Unknown	Chr5:37153784	Pathogenic	Joubert syndrome 17	Criteria Provided Single Submitter	CA279445	rs_863225152	1 SubmittersRCV000201646
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)	SNV Germline	Chr5:37153973	Pathogenic	Joubert syndrome 17 Orofaciodigital syndrome type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277737	rs_147416429	5 SubmittersRCV000201628 RCV001332490 RCV002517309
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	SNV Germline	Chr5:37157810	Pathogenic	Joubert syndrome 17 Condition: not provided Global developmental delay Jaundice Joubert syndrome 17 Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA277813	rs_749523755	10 SubmittersRCV000201773 RCV000255254 RCV000415153 RCV000646703 RCV001198869
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)	SNV Germline	Chr5:37158258	Pathogenic/Likely pathogenic	Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA279479	rs_863225159	3 SubmittersRCV000201681 RCV003987448
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)	SNV Germline	Chr5:37198775	Pathogenic	Condition: not provided Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA277732	rs_141153181	5 SubmittersRCV000255261 RCV000201619 RCV000677320
NM_001384732.1(CPLANE1):c.3007G>T (p.Glu1003Ter)	SNV Unknown	Chr5:37206339	Pathogenic	Joubert syndrome 17	Criteria Provided Single Submitter	CA279443	rs_863225162	1 SubmittersRCV000201644
NM_001384732.1(CPLANE1):c.2999G>T (p.Trp1000Leu)	SNV Unknown	Chr5:37206347	Pathogenic	Joubert syndrome 17	Criteria Provided Single Submitter	CA277797	rs_773362418	1 SubmittersRCV000201737
NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter)	SNV Germline	Chr5:37206423	Pathogenic	Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279485	rs_863225166	2 SubmittersRCV000201687 RCV002519578
NM_001384732.1(CPLANE1):c.2831G>A (p.Arg944His)	SNV Unknown	Chr5:37213648	Pathogenic	Joubert syndrome 17	Criteria Provided Single Submitter	CA279378	rs_863225165	1 SubmittersRCV000201577
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter)	SNV Germline	Chr5:37221361	Pathogenic	Joubert syndrome 17 Orofaciodigital syndrome type 6 Joubert syndrome 17 CPLANE1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279530	rs_863225164	3 SubmittersRCV000201748 RCV002492926 RCV003401086
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys)	SNV Germline	Chr5:37221459	Pathogenic/Likely pathogenic	Joubert syndrome 17 Condition: not provided CPLANE1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277756	rs_760906097	4 SubmittersRCV000201667 RCV001376973 RCV003897435
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter)	SNV Germline	Chr5:37224655	Pathogenic	Joubert syndrome 17 Orofaciodigital syndrome type 6 Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277686	rs_776886962	3 SubmittersRCV000201525 RCV002485328 RCV003556249
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)	SNV Germline	Chr5:37224679	Pathogenic	Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279458	rs_863225163	5 SubmittersRCV000201655 RCV000362856
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter)	SNV Germline	Chr5:37226320	Pathogenic	Joubert syndrome 17 Condition: not provided CPLANE1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279425	rs_863225158	3 SubmittersRCV000201623 RCV002515474 RCV003955215
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)	SNV Germline	Chr5:37226811	Pathogenic	Joubert syndrome 17 Condition: not provided Joubert syndrome 17 Orofaciodigital syndrome type 6 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA277773	rs_530569572	7 SubmittersRCV000201692 RCV000523063 RCV002478717 RCV003230448
NM_001384732.1(CPLANE1):c.817A>C (p.Asn273His)	SNV Germline	Chr5:37239730	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided CPLANE1-related disorder	Criteria Provided Conflicting Classifications	CA279544	rs_863225167	3 SubmittersRCV000201759 RCV001065433 RCV003390946
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)	SNV Germline	Chr5:37244521	Conflicting classifications of pathogenicity	Joubert syndrome 17 not specified Condition: not provided Nephronophthisis Joubert syndrome and related disorders CPLANE1-related disorder	Criteria Provided Conflicting Classifications	CA277763	rs_756856188	8 SubmittersRCV000201674 RCV000500106 RCV000686452 RCV001328280 RCV003330576 RCV003907754
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)	SNV Unknown	Chr6:135427226	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA277806	rs_368788993	1 SubmittersRCV000201756
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)	SNV Germline	Chr6:135427244	Pathogenic	Joubert syndrome 3 Condition: not provided Familial aplasia of the vermis AHI1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279374	rs_863225135	4 SubmittersRCV000201566 RCV001091216 RCV001240194 RCV003407712
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)	SNV Germline	Chr6:135428757	Pathogenic/Likely pathogenic	Joubert syndrome 3 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279357	rs_863225131	2 SubmittersRCV000201542 RCV003114363
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)	SNV Unknown	Chr6:135431220	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA279355	rs_863225146	1 SubmittersRCV000201540
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)	SNV Germline	Chr6:135431284	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA279563	rs_863225139	2 SubmittersRCV000201786 RCV003495118
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)	SNV Germline	Chr6:135433081	Pathogenic	Joubert syndrome 3 Condition: not provided Retinitis pigmentosa Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA277726	rs_372659908	5 SubmittersRCV000201604 RCV000255574 RCV001002863 RCV001387494
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)	SNV Germline	Chr6:135433120	Conflicting classifications of pathogenicity	Joubert syndrome 3 Familial aplasia of the vermis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA279352	rs_863225144	4 SubmittersRCV000201537 RCV000817125 RCV003235125 RCV003237762
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)	SNV Germline	Chr6:135433137	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279368	rs_863225134	2 SubmittersRCV000201556 RCV000497534
NM_001134831.2(AHI1):c.2036+1G>T	SNV Unknown	Chr6:135438374	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA277734	rs_776093293	1 SubmittersRCV000201625
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)	SNV Unknown	Chr6:135438388	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA279503	rs_863225145	1 SubmittersRCV000201721
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)	SNV Germline	Chr6:135438399	Conflicting classifications of pathogenicity	Joubert syndrome 3 Condition: not provided Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA277741	rs_772989270	3 SubmittersRCV000201635 RCV001731519 RCV003495117
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)	SNV Germline	Chr6:135438414	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA279428	rs_863225147	3 SubmittersRCV000201632 RCV000414742 RCV001051208
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)	SNV Germline	Chr6:135438435	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA277783	rs_541041911	2 SubmittersRCV000201711 RCV001853231
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)	SNV Unknown	Chr6:135438494	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA277799	rs_764412921	1 SubmittersRCV000201738
NM_001134831.2(AHI1):c.1626+1G>A	SNV Germline	Chr6:135448289	Pathogenic/Likely pathogenic	Joubert syndrome 3 Familial aplasia of the vermis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279376	rs_863225137	3 SubmittersRCV000201568 RCV001064139 RCV002277553
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)	SNV Germline	Chr6:135448400	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA277801	rs_371637724	3 SubmittersRCV000201739 RCV000702666
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	SNV Germline	Chr6:135455811	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis Condition: not provided Retinal dystrophy Nephronophthisis Rod-cone dystrophy Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA339611	rs_777668842	9 SubmittersRCV000201715 RCV000206729 RCV000482493 RCV001074545 RCV001328119 RCV001376375 RCV003317148
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)	SNV Germline	Chr6:135455818	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA279421	rs_863225143	4 SubmittersRCV000201621 RCV001853230
NM_001134831.2(AHI1):c.1152-2A>G	SNV Germline	Chr6:135455928	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA277693	rs_753085250	2 SubmittersRCV000201545 RCV003495116
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)	SNV Unknown	Chr6:135457530	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA279507	rs_863225133	1 SubmittersRCV000201728
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)	SNV Germline	Chr6:135465827	Pathogenic	Joubert syndrome 3 See cases Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279546	rs_863225142	3 SubmittersRCV000201760 RCV002287391 RCV003330575
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	SNV Germline	Chr6:135465901	Pathogenic	Joubert syndrome 3 Joubert syndrome and related disorders Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA279475	rs_863225138	4 SubmittersRCV000201668 RCV002469064 RCV003765300
NM_001382391.1(CSPP1):c.923+1G>C	SNV Germline	Chr8:67095733	Pathogenic	Joubert syndrome 21 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279386	rs_863225194	3 SubmittersRCV000201587 RCV001847909
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)	SNV Germline	Chr8:67111983	Pathogenic/Likely pathogenic	Joubert syndrome 21 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210307	rs_374703898	3 SubmittersRCV000201690 RCV000520785
NM_001382391.1(CSPP1):c.1697+1G>T	SNV Unknown	Chr8:67118822	Pathogenic	Joubert syndrome 21	Criteria Provided Multiple Submitters No Conflicts	CA279533	rs_863225193	2 SubmittersRCV000201750
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)	SNV Germline	Chr8:67158480	Pathogenic	Joubert syndrome 21	Criteria Provided Multiple Submitters No Conflicts	CA210345	rs_771203308	2 SubmittersRCV000201785
NM_001382391.1(CSPP1):c.3220+1G>A	SNV Unknown	Chr8:67179927	Pathogenic	Joubert syndrome 21	Criteria Provided Single Submitter	CA210268	rs_773954226	1 SubmittersRCV000201570
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)	SNV Germline	Chr8:93755798	Conflicting classifications of pathogenicity	Joubert syndrome 6 not specified	Criteria Provided Conflicting Classifications	CA277745	rs_762543032	2 SubmittersRCV000201641 RCV003330578
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)	SNV Germline	Chr8:93755799	Conflicting classifications of pathogenicity	Joubert syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA277696	rs_772437766	4 SubmittersRCV000201553 RCV000435911 RCV003765306
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)	SNV Germline	Chr8:93755854	Pathogenic	Joubert syndrome 6 6 conditions Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277785	rs_751309268	3 SubmittersRCV000201716 RCV002500632 RCV003765305
NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg)	SNV Unknown	Chr8:93758559	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279467	rs_863225226	1 SubmittersRCV000201664
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)	SNV Germline	Chr8:93765414	Conflicting classifications of pathogenicity	Joubert syndrome 6 not specified Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA277766	rs_750950408	3 SubmittersRCV000201683 RCV002222442 RCV001853242
NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala)	SNV Unknown	Chr8:93780608	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279514	rs_863225229	1 SubmittersRCV000201733
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)	SNV Germline	Chr8:93780647	Pathogenic/Likely pathogenic	Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA279411	rs_863225227	3 SubmittersRCV000201614 RCV002517316 RCV002500631
NM_153704.6(TMEM67):c.978+3A>G	SNV Germline	Chr8:93780985	Conflicting classifications of pathogenicity	Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA277782	rs_775256658	2 SubmittersRCV000201705 RCV001853241
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)	SNV Germline	Chr8:93782402	Pathogenic/Likely pathogenic	Joubert syndrome 6 TMEM67-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279392	rs_863225232	3 SubmittersRCV000201590 RCV004528990
NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)	SNV Unknown	Chr8:93782410	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279340	rs_863225237	1 SubmittersRCV000201527
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)	SNV Germline	Chr8:93782444	Pathogenic/Likely pathogenic	Joubert syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA279345	rs_863225235	5 SubmittersRCV000201528 RCV000419395 RCV000636949 RCV002478718
NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu)	SNV Unknown	Chr8:93782455	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279510	rs_863225231	1 SubmittersRCV000201732
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	SNV Germline	Chr8:93786255	Conflicting classifications of pathogenicity	Joubert syndrome 6 Oligohydramnios Renal cyst Familial aplasia of the vermis Inborn genetic diseases 14 conditions Meckel syndrome, type 3 Bardet-Biedl syndrome 14 COACH syndrome 1 Nephronophthisis 11 Joubert syndrome 6 Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 3	Criteria Provided Conflicting Classifications	CA277817	rs_752362727	6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV003997037
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)	SNV Germline	Chr8:93786285	Pathogenic	Joubert syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277776	rs_116647652	5 SubmittersRCV000201701 RCV001536330 RCV001853243
NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)	SNV Unknown	Chr8:93787884	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279362	rs_863225228	1 SubmittersRCV000201544
NM_153704.6(TMEM67):c.1674+3A>G	SNV Germline	Chr8:93793299	Conflicting classifications of pathogenicity	Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA279381	rs_863225224	2 SubmittersRCV000201579 RCV002517315
NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu)	SNV Unknown	Chr8:93797184	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279471	rs_863225225	1 SubmittersRCV000201665
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	SNV Germline	Chr8:93797456	Conflicting classifications of pathogenicity	Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 3 Nephronophthisis 11 not specified	Criteria Provided Conflicting Classifications	CA279453	rs_863225238	5 SubmittersRCV000201654 RCV001307480 RCV001161723 RCV001163244 RCV001804938
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)	SNV Germline	Chr8:93803652	Pathogenic	Joubert syndrome 6 6 conditions Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277715	rs_751517725	5 SubmittersRCV000201592 RCV002503793 RCV003128594 RCV002515477
NM_153704.6(TMEM67):c.2368C>A (p.His790Asn)	SNV Unknown	Chr8:93804807	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279433	rs_863225230	1 SubmittersRCV000201638
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)	SNV Germline	Chr8:93808922	Conflicting classifications of pathogenicity	Joubert syndrome 6 not specified	Criteria Provided Conflicting Classifications	CA279405	rs_863225234	2 SubmittersRCV000201610 RCV001804937
NM_153704.6(TMEM67):c.2661+5G>A	SNV Unknown	Chr8:93809166	Likely pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279351	rs_863225239	1 SubmittersRCV000201535
NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu)	SNV Unknown	Chr8:93815341	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279461	rs_863225236	1 SubmittersRCV000201657
NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys)	SNV Germline	Chr8:93815365	Conflicting classifications of pathogenicity	Joubert syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA279557	rs_863225233	2 SubmittersRCV000201774 RCV001753605
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)	SNV Germline	Chr9:136434050	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Joubert syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA277795	rs_780882740	4 SubmittersRCV000201735 RCV001267700 RCV001775666
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)	SNV Germline	Chr10:95693897	Pathogenic/Likely pathogenic	Joubert syndrome 18 Joubert syndrome 18 Orofacial-digital syndrome IV Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210256	rs_745688122	4 SubmittersRCV000201547 RCV000796275 RCV003227713
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	SNV Germline	Chr11:61393963	Conflicting classifications of pathogenicity	Joubert syndrome 2 Familial aplasia of the vermis not specified	Criteria Provided Conflicting Classifications	CA277707	rs_541666319	5 SubmittersRCV000201571 RCV000869264 RCV002282037
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	SNV Germline	Chr11:61393964	Conflicting classifications of pathogenicity	Joubert syndrome 2 Condition: not provided Familial aplasia of the vermis Abnormality of the nervous system	Criteria Provided Conflicting Classifications	CA277803	rs_779526456	6 SubmittersRCV000201742 RCV000595708 RCV001053459 RCV001814113
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	SNV Germline	Chr11:61397942	Pathogenic/Likely pathogenic	Joubert syndrome 2 Condition: not provided Familial aplasia of the vermis Joubert syndrome 2 Meckel syndrome, type 2 TMEM216-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277700	rs_755459875	6 SubmittersRCV000201555 RCV000443367 RCV001853240 RCV002503792 RCV004530208
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)	SNV Germline	Chr12:123694859	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel syndrome, type 8 Joubert syndrome 24	Criteria Provided Conflicting Classifications	CA210299	rs_187433682	2 SubmittersRCV000201680 RCV000310999 RCV000778106
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)	SNV Germline	Chr12:123704670	Pathogenic/Likely pathogenic	Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA210283	rs_201010803	3 SubmittersRCV000201600 RCV001853238 RCV001582698
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)	SNV Unknown	Chr12:88055597	Pathogenic	Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279539	rs_863225187	2 SubmittersRCV000201753 RCV004567442
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)	SNV Unknown	Chr12:88068585	Pathogenic	Joubert syndrome 5	Criteria Provided Single Submitter	CA277694	rs_779262951	1 SubmittersRCV000201548
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)	SNV Germline	Chr12:88071373	Pathogenic	Joubert syndrome 5 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277735	rs_371525247	4 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV003468924
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	6 SubmittersRCV000201766 RCV000763310 RCV000598977 RCV001058542 RCV003468923
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Blindness Global developmental delay Condition: not provided Occipital encephalocele Cystic renal dysplasia Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	10 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	13 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Occipital encephalocele Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	14 SubmittersRCV000201563 RCV000502726 RCV000816913 RCV000763314 RCV001002937 RCV001030764 RCV001589085 RCV001529566 RCV003468919
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)	SNV Germline	Chr12:88111226	Conflicting classifications of pathogenicity	Joubert syndrome 5 Retinal dystrophy Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA277728	rs_748034744	3 SubmittersRCV000201605 RCV001074504 RCV001471584
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279529	rs_863225186	4 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)	SNV Germline	Chr12:88130283	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279451	rs_863225185	4 SubmittersRCV000201653 RCV000503197 RCV003159108 RCV002519580
NM_025114.4(CEP290):c.103-1G>T	SNV Unknown	Chr12:88141034	Pathogenic	Joubert syndrome 5	Criteria Provided Single Submitter	CA279380	rs_863225188	1 SubmittersRCV000201578
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	SNV Germline	Chr13:72835359	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Joubert syndrome 33 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA210261	rs_17089782	8 SubmittersRCV000201558 RCV000515458 RCV001169935 RCV002057037
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)	SNV Germline	Chr14:58444011	Pathogenic	Joubert syndrome 23 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210316	rs_201097695	2 SubmittersRCV000201703 RCV001781606
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)	SNV Germline	Chr14:58482712	Pathogenic	Joubert syndrome 23 Joubert syndrome 23 Short-rib thoracic dysplasia 14 with polydactyly	Criteria Provided Multiple Submitters No Conflicts	CA210305	rs_540255320	2 SubmittersRCV000201686 RCV001060061
NM_015272.5(RPGRIP1L):c.3701+1G>T	SNV Unknown	Chr16:53610966	Pathogenic	Joubert syndrome 7	Criteria Provided Single Submitter	CA279549	rs_863225219	1 SubmittersRCV000201765
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	SNV Germline	Chr16:53619112	Pathogenic	Joubert syndrome 7 Familial aplasia of the vermis Meckel-Gruber syndrome Inborn genetic diseases Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277753	rs_778533826	5 SubmittersRCV000201661 RCV001853237 RCV002517313 RCV002492927 RCV002509297
NM_015272.5(RPGRIP1L):c.2305-1G>A	SNV Germline	Chr16:53646004	Pathogenic	Joubert syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA279339	rs_863225215	2 SubmittersRCV000201526
NM_015272.5(RPGRIP1L):c.1243+1G>A	SNV Germline	Chr16:53664869	Pathogenic	Joubert syndrome 7 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279377	rs_863225218	2 SubmittersRCV000201573 RCV001853236
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys)	SNV Germline	Chr17:19360357	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Joubert syndrome 27 B9D1-related disorder	Criteria Provided Conflicting Classifications	CA210301	rs_771170000	3 SubmittersRCV000201685 RCV000241546 RCV000778492
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	SNV Germline	Chr17:58207959	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Condition: not provided Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Familial aplasia of the vermis Meckel-Gruber syndrome not specified	Criteria Provided Conflicting Classifications	CA210326	rs_773684291	6 SubmittersRCV000201754 RCV000479872 RCV000984285 RCV000984286 RCV000984284 RCV001853235 RCV003230449
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)	SNV Germline	Chr17:58214763	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA210278	rs_779953982	4 SubmittersRCV000201596 RCV000675062 RCV001123799 RCV001123798 RCV002517312
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)	SNV Germline	Chr19:41354765	Pathogenic/Likely pathogenic	Familial aplasia of the vermis Joubert syndrome and related disorders Joubert syndrome 34	Criteria Provided Multiple Submitters No Conflicts	CA210341	rs_750436680	3 SubmittersRCV000201776 RCV001844085 RCV002265681
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)	SNV Germline	Chr19:41355008	Pathogenic/Likely pathogenic	Familial aplasia of the vermis Joubert syndrome and related disorders Joubert syndrome 34	Criteria Provided Multiple Submitters No Conflicts	CA279487	rs_863225150	3 SubmittersRCV000201694 RCV001844086 RCV002265683
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)	SNV Germline	Chr19:41358004	Pathogenic	Familial aplasia of the vermis Joubert syndrome 34	Criteria Provided Single Submitter	CA210285	rs_757863670	2 SubmittersRCV000201607 RCV002265682
NM_003611.3(OFD1):c.149A>G (p.His50Arg)	SNV Germline	ChrX:13736515	Conflicting classifications of pathogenicity	Joubert syndrome 10 Familial aplasia of the vermis Orofaciodigital syndrome I Condition: not provided	Criteria Provided Conflicting Classifications	CA279419	rs_863225213	3 SubmittersRCV000201618 RCV001307208 RCV002307444
NM_003611.3(OFD1):c.277G>T (p.Val93Phe)	SNV Unknown	ChrX:13736643	Pathogenic	Joubert syndrome 10	Criteria Provided Single Submitter	CA279491	rs_863225211	1 SubmittersRCV000201699
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	SNV Germline	ChrX:13767195	Pathogenic	Joubert syndrome 10 Condition: not provided Orofaciodigital syndrome I Familial aplasia of the vermis Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA279372	rs_863225212	4 SubmittersRCV000201562 RCV000484195 RCV001383220 RCV003888641
NM_024809.5(TCTN2):c.1235-1G>A	SNV Germline	Chr12:123695219	Pathogenic	Joubert syndrome 24	No Assertion Criteria Provided	CA279858	rs_863225425	1 SubmittersRCV000202333
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter)	SNV Germline	Chr12:123706829	Pathogenic	Joubert syndrome 24 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA279864	rs_863225426	2 SubmittersRCV000202341 RCV003765308
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)	SNV Germline	Chr16:27749634	Likely pathogenic	Familial aplasia of the vermis Joubert syndrome 26	Criteria Provided Single Submitter	CA280927	rs_864309712	2 SubmittersRCV000203288 RCV000207324
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)	SNV Germline	Chr4:88067937	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease not specified Polycystic kidney disease 2 Polycystic kidney disease Joubert syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA348383	rs_2234917	12 SubmittersRCV000204140 RCV000253113 RCV001000584 RCV001292230 RCV001258257 RCV001705172
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)	SNV Germline	Chr17:58206150	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Meckel syndrome, type 1 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA350413	rs_35464956	4 SubmittersRCV000206374 RCV000664903 RCV001271767 RCV004530224
NM_014704.4(CEP104):c.735+2T>C	SNV Germline	Chr1:3839606	Pathogenic	Joubert syndrome 25 Condition: not provided	Criteria Provided Single Submitter	CA351558	rs_869025276	2 SubmittersRCV000207253 RCV003441789
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter)	SNV Germline	Chr1:3844977	Pathogenic	Joubert syndrome 25	No Assertion Criteria Provided	CA351420	rs_374574638	1 SubmittersRCV000207197
NM_014704.4(CEP104):c.2572-2A>G	SNV Germline	Chr1:3816372	Pathogenic	Joubert syndrome 25	No Assertion Criteria Provided	CA351564	rs_869025278	1 SubmittersRCV000207283
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter)	SNV Germline	Chr12:110640437	Pathogenic	Joubert syndrome 13 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA352256	rs_751962801	2 SubmittersRCV000207452 RCV003765338
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)	SNV Germline	Chr16:53652951	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome Inborn genetic diseases Meckel syndrome, type 5 COACH syndrome 3 Joubert syndrome 7 RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057711	rs_148230131	8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002519757 RCV002500747 RCV004529383
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)	SNV Germline	Chr17:58214748	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA8669502	rs_756853299	5 SubmittersRCV000224251 RCV000668874 RCV001049084 RCV003475049
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)	SNV Germline	Chr16:53664948	Conflicting classifications of pathogenicity	Condition: not provided not specified Meckel syndrome, type 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis 8 Joubert syndrome 7 Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057886	rs_79708859	8 SubmittersRCV000224232 RCV000253760 RCV001120842 RCV001079549 RCV001120843 RCV001120844 RCV001833234 RCV004529384
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)	SNV Germline	Chr7:130404666	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 15 Familial Autism Spectrum Disorder	Criteria Provided Conflicting Classifications	CA4485603	rs_141025803	4 SubmittersRCV000224397 RCV000265231 RCV001261713
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)	SNV Germline	Chr17:58216137	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669556	rs_202112856	10 SubmittersRCV000224664 RCV000318559 RCV000695608 RCV000765373 RCV001126449 RCV001126448 RCV004541364
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)	SNV Germline	Chr4:15550968	Conflicting classifications of pathogenicity	Condition: not provided COACH syndrome 1 Joubert syndrome 9 Meckel syndrome, type 6 Familial aplasia of the vermis Meckel-Gruber syndrome CC2D2A-related disorder Meckel syndrome, type 6 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA2863889	rs_200764366	6 SubmittersRCV000726192 RCV000765757 RCV001084783 RCV001150183 RCV001150184 RCV001150185
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)	SNV Germline	Chr4:15567721	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Joubert syndrome 9 CC2D2A-related disorder Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2864143	rs_753770061	2 SubmittersRCV000283981 RCV000338996 RCV000379534 RCV001421061
NM_001378615.1(CC2D2A):c.4438-9C>A	SNV Germline	Chr4:15597398	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome not specified Joubert syndrome 9 Meckel syndrome, type 6 Condition: not provided CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA2864387	rs_117667651	6 SubmittersRCV000233027 RCV000363082 RCV000267027 RCV000317484 RCV001576959 RCV004532860
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)	SNV Germline	Chr4:15597428	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 6 Joubert syndrome 9 not specified	Criteria Provided Conflicting Classifications	CA2864389	rs_186486235	5 SubmittersRCV000229439 RCV000385807 RCV000318552 RCV000319463
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)	SNV Germline	Chr12:88055666	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	2 SubmittersRCV000226860 RCV001109948 RCV001109944 RCV001109946 RCV001109945 RCV001109947
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711827	rs_371582975	4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	SNV Germline	Chr12:88107031	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712316	rs_764963626	7 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)	SNV Germline	Chr16:53619079	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057257	rs_142317242	4 SubmittersRCV000232122 RCV000271829 RCV000302183 RCV000359252 RCV001271323 RCV004532945
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)	SNV Germline	Chr17:58214359	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided Bardet-Biedl syndrome 13 Meckel syndrome, type 1 not specified Inborn genetic diseases MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669471	rs_200185068	9 SubmittersRCV000226628 RCV000765372 RCV000728102 RCV001122692 RCV001122693 RCV001820754 RCV002518354 RCV004532953
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)	SNV Germline	Chr8:93799758	Conflicting classifications of pathogenicity	Nephronophthisis not specified Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Kidney disorder	Criteria Provided Conflicting Classifications	CA4808233	rs_115563233	7 SubmittersRCV000234818 RCV000251115 RCV000723708 RCV001087450 RCV001163249 RCV001163248 RCV001163250 RCV002294093
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)	SNV Germline	Chr17:6607209	Pathogenic/Likely pathogenic	Orofaciodigital syndrome XV not specified Joubert syndrome 38 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10586689	rs_886038200	5 SubmittersRCV000241533 RCV000506654 RCV003225054 RCV002305473
NM_014804.3(KIAA0753):c.1546-3C>A	SNV Germline	Chr17:6610163	Conflicting classifications of pathogenicity	Orofaciodigital syndrome XV Condition: not provided Joubert syndrome 38	Criteria Provided Conflicting Classifications	CA10586690	rs_886038201	4 SubmittersRCV000241537 RCV002305474 RCV003225055
NM_017777.4(MKS1):c.1491-2A>G	SNV Germline	Chr17:58206382	Pathogenic	Joubert syndrome 28	No Assertion Criteria Provided	CA10586693	rs_886038203	1 SubmittersRCV000241543
NM_017777.4(MKS1):c.1588+1G>T	SNV Germline	Chr17:58206282	Pathogenic	Joubert syndrome 28	No Assertion Criteria Provided	CA10586694	rs_886038204	1 SubmittersRCV000241541
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)	SNV Germline	Chr2:201627334	Conflicting classifications of pathogenicity	not specified Joubert syndrome 14 Joubert syndrome 1	Criteria Provided Conflicting Classifications	CA2056327	rs_372686071	4 SubmittersRCV000243342 RCV000402180 RCV000986978
NM_001378615.1(CC2D2A):c.717+11T>C	SNV Germline	Chr4:15511434	Conflicting classifications of pathogenicity	not specified Joubert syndrome 9 CC2D2A-related disorder Meckel syndrome, type 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2863464	rs_184351317	3 SubmittersRCV000250811 RCV000308534 RCV000343514 RCV000396890 RCV002057438
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)	SNV Germline	Chr4:15514751	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 6 Joubert syndrome 9 CC2D2A-related disorder Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2863492	rs_116198081	7 SubmittersRCV000252098 RCV000309540 RCV000396897 RCV000363031 RCV000860602 RCV001699269
NM_001378615.1(CC2D2A):c.4675-14T>A	SNV Germline	Chr4:15601223	Conflicting classifications of pathogenicity	not specified CC2D2A-related disorder Joubert syndrome 9 Meckel syndrome, type 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2864452	rs_766203266	3 SubmittersRCV000253082 RCV000284337 RCV000339066 RCV000398605 RCV002057437
NM_001378615.1(CC2D2A):c.*1T>A	SNV Germline	Chr4:15601426	Conflicting classifications of pathogenicity	not specified CC2D2A-related disorder Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA2864494	rs_199945435	4 SubmittersRCV000251518 RCV000276457 RCV000371188 RCV000326813 RCV001548136
NM_001384732.1(CPLANE1):c.*18G>T	SNV Germline	Chr5:37107584	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17	Criteria Provided Conflicting Classifications	CA3237380	rs_200332492	2 SubmittersRCV000242809 RCV000311369
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=)	SNV Germline	Chr5:37153938	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 17	Criteria Provided Conflicting Classifications	CA3237849	rs_201122718	6 SubmittersRCV000250100 RCV000946041 RCV001153647
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)	SNV Germline	Chr5:37184866	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238710	rs_150556877	4 SubmittersRCV000245872 RCV000369776 RCV001568573
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=)	SNV Germline	Chr5:37201651	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238947	rs_141425550	4 SubmittersRCV000248280 RCV001158120 RCV001426492
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=)	SNV Germline	Chr5:37226840	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3239076	rs_186970259	7 SubmittersRCV000247286 RCV000405811 RCV000841691
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)	SNV Germline	Chr5:37226859	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3239077	rs_191239995	6 SubmittersRCV000252356 RCV000625261 RCV000646713
NM_001134831.2(AHI1):c.2492+15G>A	SNV Germline	Chr6:135429867	Conflicting classifications of pathogenicity	not specified Joubert syndrome 3 Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA4012364	rs_535243555	3 SubmittersRCV000249134 RCV001157118 RCV002058268
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)	SNV Germline	Chr6:135429992	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Joubert syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA4012382	rs_191682790	4 SubmittersRCV000249053 RCV001462053 RCV001157121 RCV001705372
NM_018718.3(CEP41):c.786G>A (p.Pro262=)	SNV Germline	Chr7:130400226	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Joubert syndrome 15	Criteria Provided Conflicting Classifications	CA4485458	rs_782460743	4 SubmittersRCV000248519 RCV000261588 RCV001452020
NM_153704.6(TMEM67):c.120T>C (p.Ser40=)	SNV Germline	Chr8:93755034	Conflicting classifications of pathogenicity	not specified Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided	Criteria Provided Conflicting Classifications	CA4807518	rs_767999682	5 SubmittersRCV000244178 RCV000274744 RCV000332073 RCV000388990 RCV000636980 RCV001727663
NM_153704.6(TMEM67):c.869+9A>G	SNV Germline	Chr8:93780756	Conflicting classifications of pathogenicity	not specified Joubert syndrome 6 Nephronophthisis 11 Meckel syndrome, type 3 Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided	Criteria Provided Conflicting Classifications	CA4807786	rs_372597584	5 SubmittersRCV000254485 RCV000304460 RCV000340533 RCV000405231 RCV000861716 RCV001727664
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)	SNV Germline	Chr8:93808848	Conflicting classifications of pathogenicity	not specified Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA10587012	rs_886038738	3 SubmittersRCV000247688 RCV000314366 RCV000344224 RCV000395284 RCV001455464
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)	SNV Germline	Chr8:93816416	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA4808442	rs_115967793	4 SubmittersRCV000243894 RCV000549204 RCV001168637 RCV001168639 RCV001168638 RCV001651278
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)	SNV Germline	Chr11:61366132	Conflicting classifications of pathogenicity	not specified Joubert syndrome 16	Criteria Provided Conflicting Classifications	CA6034559	rs_145939072	3 SubmittersRCV000246358 RCV001108034
NM_001173990.3(TMEM216):c.*21A>G	SNV Germline	Chr11:61398297	Conflicting classifications of pathogenicity	not specified Joubert syndrome 2 Meckel syndrome, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA6034791	rs_111371929	4 SubmittersRCV000251656 RCV000339313 RCV000377550 RCV001562156
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)	SNV Germline	Chr12:110619913	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 13 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6786519	rs_145478892	5 SubmittersRCV000250228 RCV000545652 RCV000403561 RCV001555631 RCV003165691
NM_024809.5(TCTN2):c.615C>A (p.Gly205=)	SNV Germline	Chr12:123686886	Conflicting classifications of pathogenicity	not specified Joubert syndrome 24 Meckel syndrome, type 8 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA6860944	rs_147485641	3 SubmittersRCV000253180 RCV001112865 RCV001112866 RCV001418301
NM_024809.5(TCTN2):c.1612+12C>T	SNV Germline	Chr12:123699822	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 8 Joubert syndrome 24 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA6861272	rs_117614122	4 SubmittersRCV000253797 RCV001111036 RCV001111037 RCV001515127
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	SNV Germline	Chr12:88077777	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000402056 RCV000391752 RCV000514061 RCV001084053 RCV001828148
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	SNV Germline	Chr12:88083853	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711863	rs_201614215	8 SubmittersRCV000243671 RCV000270848 RCV000283968 RCV000328558 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)	SNV Germline	Chr12:88118525	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712494	rs_561018129	3 SubmittersRCV000249364 RCV001241555 RCV001195819
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	SNV Germline	Chr12:88118708	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA6712524	rs_147371999	8 SubmittersRCV000254461 RCV001109701 RCV001109703 RCV001113718 RCV001113719 RCV001109702 RCV001572697 RCV001086907
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001113799 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001275038 RCV001311004
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)	SNV Germline	Chr16:53611044	Conflicting classifications of pathogenicity	not specified Joubert syndrome 7 Meckel syndrome, type 5 Nephronophthisis 8 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Condition: not provided	Criteria Provided Conflicting Classifications	CA8057230	rs_138724933	8 SubmittersRCV000246270 RCV000296818 RCV000349270 RCV000399116 RCV000861085 RCV001271321 RCV001675738
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)	SNV Germline	Chr16:53619190	Conflicting classifications of pathogenicity	not specified Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA8057277	rs_886038619	3 SubmittersRCV000249264 RCV001115542 RCV001115540 RCV001115541 RCV001317646
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)	SNV Germline	Chr16:53622339	Conflicting classifications of pathogenicity	not specified Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA8057298	rs_568801926	7 SubmittersRCV000247114 RCV000281675 RCV000349836 RCV000374184 RCV001729495 RCV002058259
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)	SNV Germline	Chr16:53645650	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Nephronophthisis 8 Joubert syndrome 7 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057506	rs_775153934	4 SubmittersRCV000291093 RCV000343656 RCV000397052 RCV001436236 RCV001279151 RCV004529441
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)	SNV Germline	Chr16:53671541	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA8057932	rs_147295026	6 SubmittersRCV000249002 RCV000636972 RCV001115910 RCV001115908 RCV001115909 RCV001701904
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)	SNV Germline	Chr17:58208545	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28	Criteria Provided Conflicting Classifications	CA8669296	rs_745809472	2 SubmittersRCV000243397 RCV000665282
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)	SNV Germline	Chr5:37198797	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA3238910	rs_149170427	4 SubmittersRCV000255984 RCV001004928 RCV004556055
NM_001082538.3(TCTN1):c.978+1G>T	SNV Germline	Chr12:110640518	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA10588538	rs_886039436	2 SubmittersRCV000255837 RCV003989511
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)	SNV Germline	Chr3:94036664	Pathogenic/Likely pathogenic	Joubert syndrome and related disorders Condition: not provided Joubert syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA2504099	rs_764109067	4 SubmittersRCV000256476 RCV001092355 RCV001859504
NM_033402.5(LRRCC1):c.105-1G>C	SNV Germline	Chr8:85109594	Pathogenic	Joubert syndrome and related disorders Condition: not provided	Criteria Provided Single Submitter	CA10588965	rs_886039794	2 SubmittersRCV000256435 RCV003989515
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)	SNV Germline	Chr8:93809830	Likely pathogenic	Joubert syndrome and related disorders	No Assertion Criteria Provided	CA10588966	rs_886039810	1 SubmittersRCV000256415
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)	SNV Germline	Chr12:88083848	Pathogenic	Joubert syndrome and related disorders	No Assertion Criteria Provided	CA10588971	rs_886039808	1 SubmittersRCV000256429
NM_001384732.1(CPLANE1):c.3673-1G>C	SNV Germline	Chr5:37195997	Pathogenic/Likely pathogenic	Condition: not provided Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA10602924	rs_886041688	2 SubmittersRCV000259747 RCV002503976
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)	SNV Germline	Chr5:37226756	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17 Joubert syndrome 17 Orofaciodigital syndrome type 6 not specified	Criteria Provided Conflicting Classifications	CA3239071	rs_533310477	6 SubmittersRCV001034653 RCV000985139 RCV000764606 RCV001844107
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)	SNV Germline	Chr7:130404568	Pathogenic	Condition: not provided Joubert syndrome 15	Criteria Provided Multiple Submitters No Conflicts	CA4485584	rs_781848162	2 SubmittersRCV000356697 RCV002519041
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr12:88114536	Pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)	SNV Germline	Chr17:58207143	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 13 Bardet-Biedl syndrome Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 1 Joubert syndrome 28 not specified MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669161	rs_200865108	11 SubmittersRCV000280753 RCV001122598 RCV001003078 RCV001087577 RCV001128316 RCV001578757 RCV001820804 RCV004542971
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	SNV Germline	Chr12:88125343	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 not specified Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases Leber congenital amaurosis Condition: not provided Kidney disorder Retinitis pigmentosa Stuve-Wiedemann syndrome 2	Criteria Provided Conflicting Classifications	CA6712623	rs_201988582	14 SubmittersRCV000280320 RCV000342452 RCV000320212 RCV000354111 RCV000396707 RCV000374721 RCV000637003 RCV000714822 RCV001265795 RCV001275039 RCV001580478 RCV002294212 RCV001589313 RCV003319345
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	10 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV001380938
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)	SNV Germline	Chr17:58218692	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 1 not specified MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669639	rs_199832333	7 SubmittersRCV000724912 RCV000765374 RCV001062255 RCV001274930 RCV001820805 RCV004535260
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)	SNV Germline	Chr16:53645635	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057502	rs_61742381	8 SubmittersRCV000270094 RCV000861403 RCV001118693 RCV001118695 RCV001118694 RCV001699420 RCV004535264
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	SNV Germline	Chr12:88084814	Conflicting classifications of pathogenicity	not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113144 RCV001113143 RCV001114512 RCV001114513 RCV001697702
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)	SNV Germline	Chr4:15601371	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 6 CC2D2A-related disorder Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA2864483	rs_367841700	4 SubmittersRCV000261394 RCV000274749 RCV000330474 RCV000355466 RCV001085240
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)	SNV Germline	Chr4:15537955	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2863778	rs_373296447	4 SubmittersRCV000298590 RCV000353425 RCV000346854 RCV001086981
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)	SNV Germline	Chr4:15580042	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 9 CC2D2A-related disorder Meckel syndrome, type 6 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA2864242	rs_372292129	3 SubmittersRCV000298658 RCV000278967 RCV000338724 RCV000374700 RCV001087550
NM_015631.6(TCTN3):c.931C>T (p.Leu311=)	SNV Germline	Chr10:95685594	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 18 Orofacial-digital syndrome IV	Criteria Provided Conflicting Classifications	CA5621013	rs_774592467	2 SubmittersRCV000408104 RCV002059118
NM_015272.5(RPGRIP1L):c.3616+7A>G	SNV Germline	Chr16:53619018	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057251	rs_373003699	6 SubmittersRCV000299256 RCV000725340 RCV001271322 RCV001088317 RCV001120151 RCV001120152 RCV001120153 RCV004543032
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)	SNV Germline	Chr16:53672937	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 5 Nephronophthisis 8 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5 Joubert syndrome 7 not specified RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057968	rs_183419371	9 SubmittersRCV000375576 RCV001117359 RCV001117358 RCV001241000 RCV001833330 RCV001117360 RCV002487213 RCV004017583 RCV004535307
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)	SNV Germline	Chr16:75556119	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 20 Meckel syndrome, type 11	Criteria Provided Conflicting Classifications	CA8176305	rs_202215735	4 SubmittersRCV000443211 RCV001087198
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)	SNV Germline	Chr6:135457659	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Joubert syndrome 3 AHI1-related disorder	Criteria Provided Conflicting Classifications	CA4012693	rs_139944375	6 SubmittersRCV000313832 RCV000357466 RCV001095106 RCV003930096
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)	SNV Germline	Chr4:15515958	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 6 Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2863530	rs_113371687	3 SubmittersRCV000377738 RCV001146978 RCV001146979 RCV001315399
NM_001174150.2(ARL13B):c.131-1G>T	SNV Germline	Chr3:94003658	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA10605194	rs_373604132	2 SubmittersRCV000390849 RCV001378018
NM_025114.4(CEP290):c.4437+1G>A	SNV Germline	Chr12:88086038	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	9 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)	SNV Germline	Chr8:93758539	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis 11 Meckel syndrome, type 3 not specified Joubert syndrome 6	Criteria Provided Conflicting Classifications	CA4807607	rs_115640152	6 SubmittersRCV000384341 RCV001087787 RCV001163029 RCV001163030 RCV001699422 RCV001163031
NM_001128178.3(NPHP1):c.329+1G>A	SNV Germline	Chr2:110178422	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA1827444	rs_376974221	5 SubmittersRCV000351846 RCV001859657 RCV002494861 RCV003469241 RCV003492029
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)	SNV Germline	Chr2:201626095	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 14 TMEM237-related disorder	Criteria Provided Conflicting Classifications	CA2056302	rs_138509553	4 SubmittersRCV000290466 RCV001079934 RCV003920116
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)	SNV Germline	Chr6:135431287	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012402	rs_200017073	3 SubmittersRCV000366873 RCV001049633 RCV002502139
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)	SNV Germline	Chr16:53656489	Conflicting classifications of pathogenicity	Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis COACH syndrome 3 Meckel syndrome, type 5 Joubert syndrome 7 Familial aplasia of the vermis RPGRIP1L-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8057737	rs_147366111	8 SubmittersRCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001243651 RCV002487244 RCV001271332 RCV004529473 RCV004021214
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)	SNV Germline	Chr2:110161604	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Condition: not provided Joubert syndrome with renal defect Nephronophthisis Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827170	rs_140469160	6 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)	SNV Germline	Chr3:94043047	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 8 ARL13B-related disorder	Criteria Provided Conflicting Classifications	CA2504195	rs_139997243	5 SubmittersRCV000726050 RCV001082926 RCV003940043
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)	SNV Germline	Chr16:75556081	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 20 Meckel syndrome, type 11 TMEM231-related disorder	Criteria Provided Conflicting Classifications	CA8176301	rs_377440297	5 SubmittersRCV000422994 RCV001078551 RCV003910004
NM_001384732.1(CPLANE1):c.1372-2A>G	SNV Germline	Chr5:37227394	Pathogenic	Condition: not provided Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA10605946	rs_886043786	2 SubmittersRCV000273995 RCV002480033
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)	SNV Germline	Chr2:110163104	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827217	rs_114250691	5 SubmittersRCV000363080 RCV001084490 RCV000765499 RCV004535410
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)	SNV Germline	Chr5:37243082	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3239172	rs_144969169	6 SubmittersRCV000338303 RCV001158242 RCV004021255
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)	SNV Germline	Chr4:15570479	Conflicting classifications of pathogenicity	Condition: not provided COACH syndrome 1 Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis Inborn genetic diseases CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA2864205	rs_188891842	6 SubmittersRCV000263818 RCV000765761 RCV001081652 RCV002521992 RCV004543114
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)	SNV Germline	Chr4:15560553	Conflicting classifications of pathogenicity	Condition: not provided COACH syndrome 1 Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis CC2D2A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2864042	rs_150093365	6 SubmittersRCV000321273 RCV000765759 RCV001087972 RCV004543116 RCV002518042
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)	SNV Germline	Chr4:15569374	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 9 Meckel syndrome, type 6 CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA2864176	rs_771914973	7 SubmittersRCV000726221 RCV001079142 RCV001146759 RCV001146760 RCV004535415
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)	SNV Germline	Chr8:67112031	Pathogenic	Condition: not provided Joubert syndrome 21	Criteria Provided Multiple Submitters No Conflicts	CA10606295	rs_886044058	3 SubmittersRCV000426028 RCV001859690
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)	SNV Germline	Chr16:53652877	Conflicting classifications of pathogenicity	Joubert syndrome 7 Meckel syndrome, type 5 Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 1 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Inborn genetic diseases RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057696	rs_143863631	8 SubmittersRCV000264423 RCV000303891 RCV000361003 RCV000765294 RCV000726350 RCV001054615 RCV001833391 RCV002522007 RCV004543128
NM_025114.4(CEP290):c.6645+1G>A	SNV Germline	Chr12:88059897	Conflicting classifications of pathogenicity	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Inborn genetic diseases Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711459	rs_201218801	10 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)	SNV Germline	Chr4:15540950	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA2863850	rs_778205727	5 SubmittersRCV000726483 RCV001145226 RCV001145225 RCV001087966 RCV004537612
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)	SNV Germline	Chr4:15537003	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 9 Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome 9 Inborn genetic diseases Meckel-Gruber syndrome Familial aplasia of the vermis CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA2863732	rs_201954181	6 SubmittersRCV000335348 RCV001149502 RCV001149503 RCV002487294 RCV002518166 RCV001248140 RCV004537623
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)	SNV Germline	Chr2:110123893	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Condition: not provided Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1826844	rs_200631256	4 SubmittersRCV000310472 RCV000365164 RCV000401330 RCV000730798 RCV001094594 RCV004544604
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)	SNV Germline	Chr2:110143602	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis not specified Nephronophthisis 1 Condition: not provided NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827002	rs_149887461	7 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 RCV004544605
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)	SNV Germline	Chr2:110169872	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827390	rs_143163969	2 SubmittersRCV000267804 RCV000315824 RCV000378671 RCV001487646
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)	SNV Germline	Chr2:110163106	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Nephronophthisis Joubert syndrome with renal defect Condition: not provided Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA1827219	rs_141763330	3 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)	SNV Germline	Chr2:201629292	Conflicting classifications of pathogenicity	Joubert syndrome 14	Criteria Provided Conflicting Classifications	CA2056390	rs_763452347	2 SubmittersRCV000351259
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)	SNV Germline	Chr2:208124196	Conflicting classifications of pathogenicity	Cataract 4 multiple types Aculeiform cataract Joubert syndrome 17 Condition: not provided CRYGD-related disorder	Criteria Provided Conflicting Classifications	CA2077717	rs_202233735	8 SubmittersRCV000414998 RCV000859322 RCV001258237 RCV001636930 RCV003983020
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)	SNV Germline	Chr3:93980453	Conflicting classifications of pathogenicity	Joubert syndrome 8 Condition: not provided ARL13B-related disorder	Criteria Provided Conflicting Classifications	CA2503724	rs_375770842	4 SubmittersRCV001052493 RCV003221946 RCV003902336
NM_001378615.1(CC2D2A):c.2486+9T>C	SNV Germline	Chr4:15553314	Conflicting classifications of pathogenicity	CC2D2A-related disorder Joubert syndrome 9 Meckel syndrome, type 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2863933	rs_768382177	2 SubmittersRCV000312712 RCV000367359 RCV000397007 RCV003766006
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)	SNV Germline	Chr4:15557409	Conflicting classifications of pathogenicity	CC2D2A-related disorder Meckel syndrome, type 6 Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2863998	rs_368886216	3 SubmittersRCV000284136 RCV000320497 RCV000379227 RCV001315843 RCV001753820
NM_001378615.1(CC2D2A):c.3399-15T>C	SNV Germline	Chr4:15569278	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Joubert syndrome 9 CC2D2A-related disorder Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2864165	rs_181612746	2 SubmittersRCV000270539 RCV000306898 RCV000370091 RCV002057917
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)	SNV Germline	Chr3:94050833	Conflicting classifications of pathogenicity	Joubert syndrome 8 Condition: not provided ARL13B-related disorder	Criteria Provided Conflicting Classifications	CA2504290	rs_146264035	6 SubmittersRCV000764518 RCV001705515 RCV003912464
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg)	SNV Germline	Chr4:15538080	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA2863797	rs_201884883	2 SubmittersRCV000270412 RCV000379021 RCV001339478
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)	SNV Germline	Chr4:15540889	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 CC2D2A-related disorder Joubert syndrome 9 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2863839	rs_369476930	7 SubmittersRCV000298157 RCV000336743 RCV000394824 RCV000731265 RCV001038299 RCV002520210
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)	SNV Germline	Chr4:15559179	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Condition: not provided Joubert syndrome 9 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2864023	rs_182369056	4 SubmittersRCV000295725 RCV000513260 RCV000392515 RCV001083473
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)	SNV Germline	Chr4:15589567	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis Microcephaly CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA2864351	rs_143947747	4 SubmittersRCV000310019 RCV000364646 RCV000864851 RCV001252766 RCV004530405
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln)	SNV Germline	Chr3:94043223	Conflicting classifications of pathogenicity	Joubert syndrome 8	Criteria Provided Conflicting Classifications		rs_550306731	2 SubmittersRCV002095811
NM_001378615.1(CC2D2A):c.-18-2673G>A	SNV Germline	Chr4:15473242	Conflicting classifications of pathogenicity	Joubert syndrome 9 not specified Meckel syndrome, type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10620305	rs_183968785	3 SubmittersRCV000299608 RCV000439648 RCV000394720 RCV002263625
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)	SNV Germline	Chr4:15538081	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 CC2D2A-related disorder Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA2863799	rs_756341605	3 SubmittersRCV000290488 RCV000325533 RCV000384920 RCV001417828
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=)	SNV Germline	Chr4:15538087	Conflicting classifications of pathogenicity	Joubert syndrome 9 CC2D2A-related disorder Meckel syndrome, type 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2863802	rs_550913315	3 SubmittersRCV000296541 RCV000350270 RCV000386075 RCV000732394 RCV002061242
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=)	SNV Germline	Chr4:15555111	Conflicting classifications of pathogenicity	Joubert syndrome 9 Meckel syndrome, type 6 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA10620314	rs_886059158	2 SubmittersRCV000272851 RCV000327991 RCV001850846
NM_001378615.1(CC2D2A):c.4675-12T>G	SNV Germline	Chr4:15601225	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Familial aplasia of the vermis CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA2864453	rs_769761582	3 SubmittersRCV000303917 RCV000393734 RCV002520223 RCV004530406
NM_001378615.1(CC2D2A):c.541-5G>A	SNV Germline	Chr4:15511242	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 CC2D2A-related disorder Joubert syndrome 9 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA2863437	rs_369022150	4 SubmittersRCV000281651 RCV000336636 RCV000372448 RCV000730673 RCV001081912
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)	SNV Germline	Chr4:15528661	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Joubert syndrome 9 CC2D2A-related disorder Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA10620339	rs_886059136	2 SubmittersRCV000285415 RCV000345106 RCV000381087 RCV002520208
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)	SNV Germline	Chr4:15537043	Conflicting classifications of pathogenicity	CC2D2A-related disorder Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA2863745	rs_376746356	4 SubmittersRCV000310945 RCV000352257 RCV000394900 RCV000727108 RCV001407251
NM_001378615.1(CC2D2A):c.3398+7A>G	SNV Germline	Chr4:15567793	Conflicting classifications of pathogenicity	Joubert syndrome 9 CC2D2A-related disorder Meckel syndrome, type 6 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2864155	rs_772784324	2 SubmittersRCV000300597 RCV000350341 RCV000407186 RCV001486582
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)	SNV Germline	Chr4:15587848	Conflicting classifications of pathogenicity	Joubert syndrome 9 Meckel syndrome, type 6 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA2864321	rs_557038070	2 SubmittersRCV000344976 RCV000407949 RCV001861227
NM_001384732.1(CPLANE1):c.7298T>C (p.Leu2433Pro)	SNV Germline	Chr5:37167149	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238094	rs_372655878	3 SubmittersRCV000280605 RCV000425279
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr)	SNV Germline	Chr5:37231029	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10620362	rs_886060584	3 SubmittersRCV000280877 RCV001753827
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)	SNV Germline	Chr6:135290469	Conflicting classifications of pathogenicity	Joubert syndrome 3 Familial aplasia of the vermis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4011958	rs_200368187	3 SubmittersRCV000310232 RCV001309958 RCV002523549
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)	SNV Germline	Chr6:135411525	Conflicting classifications of pathogenicity	Joubert syndrome 3 not specified Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA4012263	rs_538724792	3 SubmittersRCV000263339 RCV001821082 RCV002058557
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly)	SNV Germline	Chr5:37138801	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided CPLANE1-related disorder	Criteria Provided Conflicting Classifications	CA3237691	rs_144427399	4 SubmittersRCV000325059 RCV001462609 RCV003972484
NM_001384732.1(CPLANE1):c.7588+8T>C	SNV Germline	Chr5:37164265	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238017	rs_377295986	2 SubmittersRCV000273424 RCV002058530
NM_001384732.1(CPLANE1):c.6456C>T (p.Asn2152=)	SNV Germline	Chr5:37170047	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238259	rs_186460995	2 SubmittersRCV000305738 RCV002058531
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His)	SNV Germline	Chr5:37180161	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3238499	rs_199524299	4 SubmittersRCV000386853 RCV000424907 RCV004021997
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)	SNV Germline	Chr5:37184963	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238727	rs_183021118	3 SubmittersRCV000366707 RCV000703873
NM_001384732.1(CPLANE1):c.3450C>T (p.Phe1150=)	SNV Germline	Chr5:37201648	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238946	rs_200449169	2 SubmittersRCV000283740 RCV002058532
NM_001384732.1(CPLANE1):c.3090G>A (p.Thr1030=)	SNV Germline	Chr5:37206256	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238997	rs_768564404	2 SubmittersRCV000392900 RCV002061284
NM_001384732.1(CPLANE1):c.1680G>A (p.Glu560=)	SNV Germline	Chr5:37226915	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3239080	rs_749473632	2 SubmittersRCV000364768 RCV000918041
NM_001134831.2(AHI1):c.2765-9T>C	SNV Germline	Chr6:135411553	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA10623025	rs_374852342	2 SubmittersRCV000316321 RCV001095063
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)	SNV Germline	Chr6:135490685	Conflicting classifications of pathogenicity	Joubert syndrome 3 Condition: not provided Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA4012962	rs_201590073	3 SubmittersRCV000367907 RCV000998690 RCV001225876
NM_018718.3(CEP41):c.*593G>A	SNV Germline	Chr7:130398298	Conflicting classifications of pathogenicity	Joubert syndrome 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA4485310	rs_186685101	2 SubmittersRCV000347545 RCV003430933
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)	SNV Germline	Chr7:130399004	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 15 CEP41-related disorder	Criteria Provided Conflicting Classifications	CA4485409	rs_147444165	5 SubmittersRCV000441831 RCV001087358 RCV003922589
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)	SNV Germline	Chr7:130399025	Conflicting classifications of pathogenicity	Joubert syndrome 15 Familial Autism Spectrum Disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4485413	rs_368525533	4 SubmittersRCV000354546 RCV001261664 RCV003430934
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)	SNV Germline	Chr7:130401907	Conflicting classifications of pathogenicity	not specified Joubert syndrome 15 Condition: not provided Familial Autism Spectrum Disorder CEP41-related disorder	Criteria Provided Conflicting Classifications	CA4485523	rs_143303575	9 SubmittersRCV000483238 RCV000878420 RCV001702359 RCV001261666 RCV003922590
NM_001384732.1(CPLANE1):c.*518T>C	SNV Germline	Chr5:37107084	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10624450	rs_556117030	2 SubmittersRCV000284338 RCV003430911
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)	SNV Germline	Chr5:37138834	Conflicting classifications of pathogenicity	Joubert syndrome 17 Joubert syndrome 17 Orofaciodigital syndrome type 6 not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3237697	rs_147426388	6 SubmittersRCV000382022 RCV000646708 RCV002307488 RCV003343795 RCV000419680
NM_001384732.1(CPLANE1):c.8514T>C (p.Thr2838=)	SNV Germline	Chr5:37142428	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3237760	rs_760623510	2 SubmittersRCV000297474 RCV002523521
NM_001384732.1(CPLANE1):c.7099A>G (p.Lys2367Glu)	SNV Germline	Chr5:37168925	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238140	rs_778278672	2 SubmittersRCV000404414 RCV000914220

NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)

SNV
Germline

Chr11:61393965

Pathogenic

Joubert syndrome 2
Condition: not provided
Familial aplasia of the vermis
Inborn genetic diseases
Meckel syndrome, type 2
TMEM216-related disorder
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA339800

rs_201108965

18 SubmittersRCV000000220 RCV000255378 RCV000465185 RCV000624413 RCV000409114 RCV000779066 RCV001787358

NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)

SNV
Germline

Chr11:61393965

Pathogenic/Likely pathogenic

Joubert syndrome 2
Meckel syndrome, type 2
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA129626

rs_201108965

3 SubmittersRCV000000221 RCV000024013 RCV001038780

NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)

SNV
Germline

Chr9:136431830

Likely pathogenic

Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Single Submitter

CA259595

rs_13297509

2 SubmittersRCV000022402 RCV001851510

NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)

SNV
Germline

Chr9:136430391

Pathogenic

Joubert syndrome 1

No Assertion Criteria Provided

CA259596

rs_121918128

1 SubmittersRCV000022403

NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr9:136432562

Pathogenic/Likely pathogenic

Joubert syndrome 1
Familial aplasia of the vermis
Retinal dystrophy
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA259597

rs_121918129

7 SubmittersRCV000022404 RCV000201569 RCV001073387 RCV003144102 RCV003488316

NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)

SNV
Germline

Chr9:136433182

Pathogenic/Likely pathogenic

Joubert syndrome 1
Familial aplasia of the vermis
16 conditions
Inborn genetic diseases
Joubert syndrome and related disorders
Condition: not provided
INPP5E-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA259598

rs_121918130

7 SubmittersRCV000022405 RCV000636941 RCV000735369 RCV001267543 RCV002265543 RCV001550720 RCV004532266

NM_001378615.1(CC2D2A):c.2338+1G>C

SNV
Germline

Chr4:15550981

Pathogenic

Joubert syndrome 9

No Assertion Criteria Provided

rs_2109050324

1 SubmittersRCV000000777

NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)

SNV
Germline

Chr4:15567752

Conflicting classifications of pathogenicity

Joubert syndrome 9
Condition: not provided
COACH syndrome 1
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA114469

rs_118204051

10 SubmittersRCV000000779 RCV000730543 RCV001329602 RCV001851514

NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)

SNV
Germline

Chr4:15599614

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
COACH syndrome 2
Meckel syndrome, type 6
CC2D2A-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA114471

rs_118204052

7 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV004532267 RCV003764503

NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)

SNV
Germline

Chr4:15559183

Pathogenic

Joubert syndrome 9
Condition: not provided
Inborn genetic diseases
CC2D2A-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA114473

rs_118204053

8 SubmittersRCV000000781 RCV000727257 RCV001266487 RCV004528061 RCV002512617

NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)

SNV
Germline

Chr4:15563485

Pathogenic

COACH syndrome 2
Joubert syndrome 9/15, digenic
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
See cases
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA129544

rs_386833750

6 SubmittersRCV000000783 RCV000023922 RCV000199602 RCV000578695 RCV002251848 RCV002476904

NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)

SNV
Germline

Chr4:15567735

Conflicting classifications of pathogenicity

COACH syndrome 2
Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA210343

rs_267606709

5 SubmittersRCV000000784 RCV000201781 RCV000729670 RCV001383566

NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)

SNV
Germline

Chr16:53686512

Conflicting classifications of pathogenicity

Joubert syndrome 7
RPGRIP1L-related disorder
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA251686

rs_121918197

5 SubmittersRCV000001123 RCV000367935 RCV001385849 RCV001781156 RCV001831499

NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)

SNV
Germline

Chr16:53652844

Pathogenic

Joubert syndrome 7
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome and related disorders
RPGRIP1L-related disorder
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA251689

rs_121918198

8 SubmittersRCV000001124 RCV000393725 RCV000689745 RCV001271279 RCV003155007 RCV004528062 RCV002482812

NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)

SNV
Germline

Chr16:53686452

Pathogenic

Joubert syndrome 7
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA251691

rs_121918199

4 SubmittersRCV000001125 RCV001831500 RCV001067857 RCV003398409

NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)

SNV
Germline

Chr16:53652604

Pathogenic

Joubert syndrome 7

No Assertion Criteria Provided

CA251694

rs_121918200

1 SubmittersRCV000001126

NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)

SNV
Germline

Chr16:53645694

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Meckel syndrome, type 5
RPGRIP1L-related disorder
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA130771

rs_121918203

8 SubmittersRCV000033207 RCV000762961 RCV000779628 RCV000790748 RCV001059320 RCV001831501 RCV004017218

NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)

SNV
Germline

Chr16:53652637

Pathogenic/Likely pathogenic

Joubert syndrome 7
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Familial aplasia of the vermis
Abnormality of prenatal development or birth

Criteria Provided
Multiple Submitters
No Conflicts

CA251696

rs_121918204

10 SubmittersRCV000001131 RCV000824619 RCV001781157 RCV000762962 RCV001271277 RCV001813927

NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)

SNV
Germline

Chr16:53645895

Pathogenic

COACH syndrome 3
Joubert syndrome 7
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA210648

rs_145665129

6 SubmittersRCV000001134 RCV000201645 RCV000733537 RCV001382825 RCV001831502 RCV002490288

NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)

SNV
Germline

Chr16:53652712

Pathogenic

COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Single Submitter

CA210651

rs_267607020

2 SubmittersRCV000001135 RCV000201757

NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)

SNV
Germline

Chr12:88077263

Pathogenic/Likely pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Retinitis pigmentosa
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
COG7 congenital disorder of glycosylation
Abnormality of the nervous system
Retinal dystrophy
Meckel syndrome, type 6
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

27 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000515339 RCV001000092 RCV001002714 RCV000787813 RCV000531295 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV001073790 RCV001261607 RCV001276487 RCV003147273

NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)

SNV
Germline

Chr12:88141287

Pathogenic

Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA227962

rs_62635288

6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540

NM_025114.4(CEP290):c.2991+1655A>G

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 1
Retinitis pigmentosa
Joubert syndrome 5
Retinal dystrophy
Intellectual disability
CEP290-related disorder
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

24 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000763315 RCV000988884 RCV000678535 RCV001196010 RCV001075828 RCV001255341 RCV001731267 RCV001831503 RCV003460403

NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)

SNV
Germline

Chr12:88083936

Pathogenic

Joubert syndrome 5
Leber congenital amaurosis 10
Blindness
Central hypotonia
Nystagmus
Molar tooth sign on MRI
Condition: not provided
not specified
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinal dystrophy
CEP290-related disorder
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

19 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001002715 RCV001046610 RCV001075829 RCV003155008 RCV001831504 RCV003466778 RCV003492281

NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)

SNV
Germline

Chr12:88130324

Pathogenic

Meckel syndrome, type 4
Severe hydrocephalus
Polycystic kidney disease
Encephalocele
Leber congenital amaurosis
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

9 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001376372 RCV002496228 RCV001042869 RCV001781163 RCV003466779 RCV003887847

NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)

SNV
Germline

Chr12:88077227

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA251753

rs_267606719

3 SubmittersRCV000001410 RCV000201631 RCV001261609

NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)

SNV
Germline

Chr8:93791282

Pathogenic

Joubert syndrome 6
COACH syndrome 1
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210653

rs_137853107

3 SubmittersRCV000001436 RCV000001437 RCV001851544

NM_153704.6(TMEM67):c.2439+5G>C

SNV
Germline

Chr8:93804883

Pathogenic

Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_756686115

2 SubmittersRCV000001438 RCV002512641

NM_153704.6(TMEM67):c.651+2T>G

SNV
Germline

Chr8:93765648

Conflicting classifications of pathogenicity

Joubert syndrome 6
Meckel syndrome, type 3
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA213073

rs_199821258

8 SubmittersRCV000001439 RCV000050199 RCV001698938 RCV001851545 RCV002281687

NM_153704.6(TMEM67):c.1961-2A>C

SNV
Germline

Chr8:93797329

Pathogenic

COACH syndrome 1
Joubert syndrome 6

Criteria Provided
Single Submitter

CA212768

rs_758948621

2 SubmittersRCV000001441 RCV000201576

NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)

SNV
Germline

Chr8:93765617

Pathogenic

Joubert syndrome 6
Meckel syndrome, type 3
TMEM67-related disorder
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
RHYNS syndrome
Joubert syndrome and related disorders
Inborn genetic diseases
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA114963

rs_137853108

18 SubmittersRCV000001443 RCV000001442 RCV000334857 RCV000468558 RCV000494327 RCV000723362 RCV002298428 RCV003242959 RCV002490291

NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)

SNV
Germline

Chr8:93780962

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14, modifier of
Nephronophthisis
Condition: not provided
Joubert syndrome 6
RHYNS syndrome
Meckel syndrome, type 3
Nephronophthisis 11
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 1
not specified
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA114968

rs_111619594

14 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001158405 RCV001158406 RCV001085857 RCV001333012 RCV003488318 RCV004528064

NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)

SNV
Germline

Chr8:93808898

Pathogenic/Likely pathogenic

COACH syndrome 1
Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
6 conditions
TMEM67-related disorder
Meckel syndrome, type 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210657

rs_267607119

11 SubmittersRCV000001445 RCV000001446 RCV000821785 RCV001310635 RCV001536092 RCV003315221 RCV000995902 RCV001804708

NM_153704.6(TMEM67):c.2556+1G>T

SNV
Germline

Chr8:93808957

Pathogenic

COACH syndrome 1
Joubert syndrome 6

Criteria Provided
Single Submitter

CA212769

rs_786200867

2 SubmittersRCV000001447 RCV000201565

NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)

SNV
Germline

Chr8:93795503

Pathogenic

COACH syndrome 1
Joubert syndrome 6
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210661

rs_267607115

7 SubmittersRCV000001449 RCV000201677 RCV001781164 RCV001851546

NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)

SNV
Germline

Chr8:93808861

Pathogenic

Nephronophthisis 11
Joubert syndrome 6

Criteria Provided
Single Submitter

CA114973

rs_267607116

2 SubmittersRCV000001450 RCV000587331

NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)

SNV
Germline

Chr8:93795970

Pathogenic/Likely pathogenic

Joubert syndrome 6
Nephronophthisis 11
Nephronophthisis
TMEM67-related disorder
Renal cyst
Oligohydramnios
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Inborn genetic diseases
14 conditions
Bardet-Biedl syndrome 14
Nephronophthisis 11
Joubert syndrome 6
COACH syndrome 1
Meckel syndrome, type 3
RHYNS syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA114977

rs_201893408

14 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000415055 RCV000534533 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497

NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)

SNV
Germline

Chr8:93808861

Pathogenic

Joubert syndrome 6
Nephronophthisis 11

No Assertion Criteria Provided

CA114985

rs_267607116

1 SubmittersRCV000001455 RCV000001454

NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)

SNV
Germline

Chr8:93755044

Pathogenic

Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA251770

rs_267607118

2 SubmittersRCV000001456 RCV001851547

NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)

SNV
Germline

Chr8:93780633

Pathogenic

Joubert syndrome 6
Nephronophthisis
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA251773

rs_202149403

11 SubmittersRCV000001457 RCV000234813 RCV000418247 RCV001389251 RCV002490292

NM_017777.4(MKS1):c.80+2T>C

SNV
Germline

Chr17:58219149

Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Single Submitter

CA342695

rs_386834052

3 SubmittersRCV000022413 RCV000665702

NM_017777.4(MKS1):c.1024+1G>A

SNV
Germline

Chr17:58210658

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA342696

rs_199874059

7 SubmittersRCV000022414 RCV000668139 RCV001038005 RCV001570919 RCV003472957

NM_017777.4(MKS1):c.417G>A (p.Glu139=)

SNV
Germline

Chr17:58216088

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Familial aplasia of the vermis
Condition: not provided
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
MKS1-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA213122

rs_386834048

18 SubmittersRCV000022415 RCV000201633 RCV000341018 RCV000605128 RCV000666711 RCV000694137 RCV001123802 RCV004528065 RCV004018536

NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)

SNV
Germline

Chr17:58206479

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Nystagmus
Hypotonia
Polydactyly
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 28
MKS1-related disorder
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA251777

rs_137853105

8 SubmittersRCV000001458 RCV000626942 RCV000665962 RCV001239533 RCV001578018 RCV001729331 RCV004532272 RCV004566669

NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln)

SNV
Germline

Chr3:94003764

Pathogenic

Joubert syndrome 8

No Assertion Criteria Provided

CA252019

rs_121912606

1 SubmittersRCV000002068

NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)

SNV
Germline

Chr3:94003774

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

CA252021

rs_121912607

2 SubmittersRCV000002069

NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)

SNV
Germline

Chr3:94036663

Pathogenic/Likely pathogenic

Joubert syndrome 8
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA252023

rs_121912608

3 SubmittersRCV000002070 RCV003330381

NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)

SNV
Germline

Chr6:135457594

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA252041

rs_121434348

4 SubmittersRCV000002087 RCV001058641

NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr6:135455775

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Single Submitter

CA252043

rs_121434349

2 SubmittersRCV000002088 RCV003495105

NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)

SNV
Germline

Chr6:135455750

Pathogenic/Likely pathogenic

Joubert syndrome 3
Typical Joubert syndrome MRI findings
Global developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA249938

rs_121434350

4 SubmittersRCV000002089 RCV000162132

NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)

SNV
Germline

Chr6:135447022

Pathogenic

Joubert syndrome 3
Condition: not provided
Rod-cone dystrophy
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA252046

rs_267606641

7 SubmittersRCV000002091 RCV000522479 RCV001376341 RCV001380010

NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)

SNV
Germline

Chr6:135433125

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis
Condition: not provided
Joubert syndrome with ocular defect

Criteria Provided
Conflicting Classifications

CA252048

rs_121434351

8 SubmittersRCV000002092 RCV000463110 RCV001582460 RCV001172382

NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)

SNV
Germline

Chr3:132696798

Pathogenic

Nephronophthisis 3
Nephronophthisis
Joubert syndrome and related disorders
NPHP3-related Meckel-like syndrome
Condition: not provided
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA115660

rs_267606916

9 SubmittersRCV000002759 RCV000234832 RCV002281691 RCV001330459 RCV001529627 RCV002496237

NM_001128178.3(NPHP1):c.1716+1G>T

SNV
Germline

Chr2:110129185

Pathogenic

Nephronophthisis 1
Nephronophthisis
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_1233478832

3 SubmittersRCV000003682 RCV001851623 RCV003466796

NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)

SNV
Germline

Chr2:110163048

Pathogenic

Nephronophthisis 1
Condition: not provided
Nephronophthisis
NPHP1-related disorder
Inborn genetic diseases
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA116310

rs_121907899

12 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV004018547 RCV003466797

NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)

SNV
Germline

Chr6:135457660

Pathogenic

Joubert syndrome 3
Condition: not provided
Retinal dystrophy
Familial aplasia of the vermis
Joubert syndrome with ocular defect

Criteria Provided
Multiple Submitters
No Conflicts

CA259900

rs_201391050

6 SubmittersRCV000023739 RCV000255060 RCV001074225 RCV001390240 RCV001172379

NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)

SNV
Germline

Chr6:135448432

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Single Submitter

CA259902

rs_387907003

2 SubmittersRCV000023740 RCV002513203

NM_001082538.3(TCTN1):c.221-2A>G

SNV
Germline

Chr12:110619834

Pathogenic

Joubert syndrome 13

No Assertion Criteria Provided

CA342750

rs_367543065

1 SubmittersRCV000023788

NM_018718.3(CEP41):c.33+2T>G

SNV
Germline

Chr7:130440932

Pathogenic

Joubert syndrome 15

No Assertion Criteria Provided

rs_1584916464

1 SubmittersRCV000023823

NM_018718.3(CEP41):c.423-2A>C

SNV
Germline

Chr7:130402801

Pathogenic

Joubert syndrome 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_781815473

3 SubmittersRCV000023825

NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)

SNV
Germline

Chr7:130427969

Pathogenic

Joubert syndrome 15

No Assertion Criteria Provided

rs_1584901211

1 SubmittersRCV000023829

NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)

SNV
Germline

Chr19:41354927

Pathogenic

Meckel syndrome, type 10
Joubert syndrome and related disorders

Criteria Provided
Single Submitter

rs_1487082103

2 SubmittersRCV000023919 RCV003330400

NM_024809.5(TCTN2):c.1506-2A>G

SNV
Germline

Chr12:123699702

Pathogenic/Likely pathogenic

Meckel syndrome, type 8
TCTN2-related disorder
Meckel syndrome, type 6
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome and related disorders
Joubert syndrome 24

Criteria Provided
Multiple Submitters
No Conflicts

CA129649

rs_374349989

10 SubmittersRCV000024072 RCV000305893 RCV001261610 RCV000727919 RCV002513219 RCV003993750 RCV003987331

NM_015681.6(B9D1):c.341+2T>C

SNV
Germline

Chr17:19347782

Pathogenic/Likely pathogenic

Meckel syndrome, type 9
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 27

Criteria Provided
Multiple Submitters
No Conflicts

CA129674

rs_143149764

5 SubmittersRCV000024098 RCV000049798 RCV000818541 RCV001270058

NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)

SNV
Germline

Chr2:201640915

Pathogenic

Joubert syndrome 14
Familial aplasia of the vermis
Condition: not provided
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA260000

rs_199469707

11 SubmittersRCV000024179 RCV000034999 RCV001701641 RCV002265568

NM_001044385.3(TMEM237):c.677+1G>T

SNV
Germline

Chr2:201629728

Pathogenic

Joubert syndrome 14

No Assertion Criteria Provided

CA260003

rs_793888505

1 SubmittersRCV000024180

NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr2:201640264

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA260005

rs_387907131

2 SubmittersRCV000024182

NM_001044385.3(TMEM237):c.943+1G>T

SNV
Germline

Chr2:201628075

Pathogenic

Joubert syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA260008

rs_748510210

4 SubmittersRCV000024183

NM_016464.5(TMEM138):c.128+5G>A

SNV
Germline

Chr11:61364523

Pathogenic/Likely pathogenic

Joubert syndrome 16
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_917404097

3 SubmittersRCV000024186 RCV002271376

NM_016464.5(TMEM138):c.287A>G (p.His96Arg)

SNV
Germline

Chr11:61366203

Pathogenic/Likely pathogenic

Joubert syndrome 16
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260009

rs_387907132

5 SubmittersRCV000024187 RCV000423402

NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)

SNV
Germline

Chr11:61368600

Pathogenic

Joubert syndrome 16

Criteria Provided
Single Submitter

CA260010

rs_387907133

2 SubmittersRCV000024188

NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)

SNV
Germline

Chr11:61367998

Pathogenic

Joubert syndrome 16

No Assertion Criteria Provided

CA260011

rs_387907134

1 SubmittersRCV000024189

NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)

SNV
Germline

Chr11:61368609

Conflicting classifications of pathogenicity

Joubert syndrome 16

Criteria Provided
Conflicting Classifications

CA260012

rs_387907135

4 SubmittersRCV000024190

NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)

SNV
Germline

Chr5:37187488

Pathogenic/Likely pathogenic

Joubert syndrome 17
Condition: not provided
Joubert syndrome and related disorders
Joubert syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA342791

rs_367543061

9 SubmittersRCV000024218 RCV000522403 RCV002271377 RCV003444055

NM_001384732.1(CPLANE1):c.7400+1G>A

SNV
Germline

Chr5:37167046

Pathogenic

Joubert syndrome 17
Joubert syndrome 17
Orofaciodigital syndrome type 6
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA342792

rs_367543062

5 SubmittersRCV000024219 RCV000763545 RCV004526599

NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)

SNV
Germline

Chr5:37183377

Pathogenic

Joubert syndrome 17
Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA342794

rs_367543063

4 SubmittersRCV000024221 RCV001781313 RCV002496440

NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)

SNV
Germline

Chr5:37165595

Pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342796

rs_139675596

8 SubmittersRCV000024222 RCV000763544 RCV001551136

NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)

SNV
Germline

Chr5:37157382

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344567

rs_111294855

4 SubmittersRCV000034938 RCV003326332

NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter)

SNV
Germline

Chr10:95682776

Pathogenic

Orofacial-digital syndrome IV
Orofacial-digital syndrome IV
Joubert syndrome 18

Criteria Provided
Single Submitter

CA130048

rs_387907273

2 SubmittersRCV000030712 RCV001852611

NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg)

SNV
Germline

Chr10:95685585

Pathogenic

Joubert syndrome 18

No Assertion Criteria Provided

CA130052

rs_793888508

1 SubmittersRCV000030715

NM_001379286.1(ZNF423):c.3853C>T (p.His1285Tyr)

SNV
Germline

Chr16:49491301

Pathogenic

Joubert syndrome 19

No Assertion Criteria Provided

rs_1596988259

1 SubmittersRCV000030828

NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)

SNV
Germline

Chr16:75556198

Conflicting classifications of pathogenicity

Joubert syndrome 20
Joubert syndrome 20
Meckel syndrome, type 11
not specified

Criteria Provided
Conflicting Classifications

CA130590

rs_397514609

3 SubmittersRCV000033041 RCV002513310 RCV001778672

NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)

SNV
Germline

Chr16:75542641

Conflicting classifications of pathogenicity

Joubert syndrome 20
Condition: not provided
Meckel syndrome, type 11
Joubert syndrome 20
Joubert syndrome and related disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA130593

rs_200799769

6 SubmittersRCV000033042 RCV000255979 RCV000543480 RCV003155046 RCV002513311

NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)

SNV
Germline

ChrX:13736487

Pathogenic

Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Joubert syndrome 10
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA343958

rs_312262810

2 SubmittersRCV001383219 RCV002496509

NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)

SNV
Germline

Chr4:15567729

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome 9
Polydactyly
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144225

rs_386833752

5 SubmittersRCV000049716 RCV000201581 RCV001007916 RCV001539860 RCV002514252

NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)

SNV
Germline

Chr11:61397797

Pathogenic/Likely pathogenic

Meckel syndrome, type 2
Joubert syndrome 2
Condition: not provided
Familial aplasia of the vermis
TMEM216-related disorder
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA144308

rs_11230683

12 SubmittersRCV000049797 RCV000201650 RCV000760437 RCV000822982 RCV000779067 RCV001787335

NM_017777.4(MKS1):c.515+1G>A

SNV
Germline

Chr17:58214740

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA344762

rs_201933838

6 SubmittersRCV000050037 RCV000671081 RCV001220121 RCV003474636

NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr12:88114488

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

10 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002504949 RCV002285263 RCV003460645

NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)

SNV
Germline

Chr8:93781725

Pathogenic/Likely pathogenic

Meckel syndrome, type 3
Meckel-Gruber syndrome
Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
TMEM67-related disorder
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA144430

rs_386834180

9 SubmittersRCV000050175 RCV000114240 RCV000201777 RCV000560903 RCV000778866 RCV001267954 RCV002477175

NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)

SNV
Germline

Chr8:93786253

Pathogenic/Likely pathogenic

Meckel syndrome, type 3
Condition: not provided
Joubert syndrome and related disorders
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144435

rs_386834182

7 SubmittersRCV000050177 RCV000430117 RCV001804788 RCV001853069

NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)

SNV
Germline

Chr8:93772612

Pathogenic

Meckel syndrome, type 3
Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144494

rs_386834205

3 SubmittersRCV000050200 RCV000201769 RCV002514272

NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)

SNV
Germline

Chr6:135457593

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA264217

rs_397514726

2 SubmittersRCV000054427

NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)

SNV
Germline

Chr16:75542602

Pathogenic/Likely pathogenic

Meckel syndrome, type 11
Meckel-Gruber syndrome
Condition: not provided
TMEM231-related disorder
Joubert syndrome 20
Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA144704

rs_397514753

7 SubmittersRCV000054806 RCV000162154 RCV001781386 RCV003915018 RCV003987343 RCV003764728

NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)

SNV
Germline

Chr16:75540130

Likely pathogenic

Meckel syndrome, type 11
Joubert syndrome and related disorders

Criteria Provided
Single Submitter

CA144706

rs_397514754

2 SubmittersRCV000054807 RCV003387749

NM_001128178.3(NPHP1):c.771+2C>T

SNV
Germline

Chr2:110164686

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220570

rs_189320299

5 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380

NM_015272.5(RPGRIP1L):c.2153-4G>C

SNV
Germline

Chr16:53649119

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223182

rs_201380599

7 SubmittersRCV000081722 RCV000636978 RCV001118787 RCV001120738 RCV001120739 RCV001573698

NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)

SNV
Germline

Chr16:53641066

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA148755

rs_144313291

8 SubmittersRCV000081725 RCV000323400 RCV000280063 RCV000372251 RCV000547462 RCV001271273 RCV002262625 RCV004528293

NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)

SNV
Germline

Chr12:88086456

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000366483 RCV000351974 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298

NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)

SNV
Germline

Chr3:132692760

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome and related disorders
Nephronophthisis
NPHP3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA201362

rs_398124546

4 SubmittersRCV000175246 RCV002281916 RCV002513853 RCV004528299

NM_014714.4(IFT140):c.874G>A (p.Val292Met)

SNV
Germline

Chr16:1587961

Pathogenic

Saldino-Mainzer syndrome
Jeune thoracic dystrophy
Saldino-Mainzer syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA149747

rs_431905521

5 SubmittersRCV000083297 RCV000515922 RCV000626469 RCV004579537

NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)

SNV
Germline

Chr12:88089247

Pathogenic

Condition: not provided
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227967

rs_62640581

7 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011

NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)

SNV
Germline

Chr8:67158540

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA150605

rs_587777138

3 SubmittersRCV000087066

NM_001382391.1(CSPP1):c.2968+1G>A

SNV
Germline

Chr8:67172556

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA150610

rs_587777142

3 SubmittersRCV000087070

NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)

SNV
Germline

Chr8:67095440

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA150612

rs_375113643

4 SubmittersRCV000087072

NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)

SNV
Germline

Chr8:67095434

Pathogenic

Joubert syndrome 21

No Assertion Criteria Provided

CA150616

rs_587777146

1 SubmittersRCV000087075

NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)

SNV
Germline

Chr8:67164468

Pathogenic

Joubert syndrome 21

No Assertion Criteria Provided

CA150618

rs_537456518

1 SubmittersRCV000087076

NM_002601.4(PDE6D):c.140-1G>A

SNV
Germline

Chr2:231738139

Pathogenic

Joubert syndrome 22

No Assertion Criteria Provided

CA150641

rs_587777156

1 SubmittersRCV000087137

NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)

SNV
Germline

Chr4:15533245

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA150849

rs_144439937

11 SubmittersRCV000114164 RCV000423044 RCV001149500 RCV001149501 RCV001082503

NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)

SNV
Germline

Chr4:15557482

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
not specified
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA150861

rs_187003641

8 SubmittersRCV000114170 RCV000176277 RCV000515156 RCV000636974 RCV001146036 RCV001719852 RCV001146035 RCV004529912

NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)

SNV
Germline

Chr12:123686870

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 8
Joubert syndrome 24
Condition: not provided

Criteria Provided
Conflicting Classifications

CA150964

rs_79251326

8 SubmittersRCV000114230 RCV000204827 RCV000625192 RCV001110871 RCV003390794

NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)

SNV
Germline

Chr8:93799678

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11

Criteria Provided
Conflicting Classifications

CA150995

rs_116445698

8 SubmittersRCV000114245 RCV000419164 RCV001079645 RCV001163245 RCV001163246 RCV001163247

NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)

SNV
Germline

Chr9:136430288

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA153166

rs_10870182

10 SubmittersRCV000117270 RCV000308485 RCV001095306 RCV001311042

NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)

SNV
Germline

Chr10:102615290

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma
Joubert syndrome 32
Gorlin syndrome
Medulloblastoma
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA162216

rs_368178771

7 SubmittersRCV000122098 RCV000471241 RCV000562404 RCV000763642 RCV000726658 RCV003460861

NM_016169.4(SUFU):c.1028G>A (p.Arg343His)

SNV
Germline

Chr10:102615273

Conflicting classifications of pathogenicity

not specified
Medulloblastoma
Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma
Joubert syndrome 32
Gorlin syndrome
Medulloblastoma
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA162222

rs_79299301

9 SubmittersRCV000122100 RCV000260834 RCV000466509 RCV000566455 RCV000763641 RCV001354923 RCV003467081

NM_025114.4(CEP290):c.1624-5T>C

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Kidney disorder
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000266641 RCV000297299 RCV000262275 RCV000321698 RCV000361419 RCV000475858 RCV001274128 RCV002294036 RCV002505080

NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000279934 RCV000337209 RCV000375509 RCV000372128 RCV000459124 RCV000293222 RCV001271579 RCV001812001 RCV002294037

NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Kidney disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

7 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV002294038 RCV001812002

NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 10
Joubert syndrome 1
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

12 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001109949 RCV001109950 RCV001110732 RCV001110731 RCV001272010 RCV003888568

NM_025114.4(CEP290):c.1711+1G>A

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
CEP290-related disorder
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

6 SubmittersRCV000144459 RCV002492522 RCV001384909 RCV003387770 RCV003467201 RCV003888575

NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)

SNV
Germline

Chr6:135433119

Pathogenic/Likely pathogenic

Joubert syndrome 3
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA270780

rs_587783013

10 SubmittersRCV000144464 RCV001262092 RCV000678521 RCV001698972 RCV003495112

NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)

SNV
Germline

Chr12:88089157

Pathogenic

Leber congenital amaurosis 10
Joubert syndrome 5
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277711

rs_587783016

5 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203

NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)

SNV
Germline

Chr5:37201718

Pathogenic/Likely pathogenic

Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA170947

rs_375009168

5 SubmittersRCV000144860 RCV000501748 RCV000521353

NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)

SNV
Germline

Chr5:37182760

Conflicting classifications of pathogenicity

Joubert syndrome 17
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271181

rs_149313666

11 SubmittersRCV000145369 RCV000248133 RCV000430074

NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr)

SNV
Germline

Chr5:37138838

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271185

rs_201404524

3 SubmittersRCV000145385 RCV002055874

NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)

SNV
Germline

Chr12:110640479

Conflicting classifications of pathogenicity

Joubert syndrome 13
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA272717

rs_199529768

2 SubmittersRCV000147738 RCV002055937

NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)

SNV
Germline

Chr12:88086443

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000390170 RCV000373904 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881

NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
not specified
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV001110739 RCV001079764 RCV001109956 RCV001110741 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882

NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

14 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046

NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)

SNV
Germline

Chr12:88060951

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Leber congenital amaurosis
Intellectual disability

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445

NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)

SNV
Germline

Chr2:110178520

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Nephronophthisis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA234415

rs_140446520

8 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425

NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)

SNV
Germline

Chr16:53649028

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA233780

rs_142349647

7 SubmittersRCV000327884 RCV000284497 RCV000384916 RCV000723738 RCV001085401 RCV001831948 RCV004528883

NM_001378615.1(CC2D2A):c.1017+1G>A

SNV
Germline

Chr4:15516005

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210291

rs_200407856

4 SubmittersRCV000198057 RCV000201663 RCV000597652

NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)

SNV
Germline

Chr4:15516648

Conflicting classifications of pathogenicity

CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA233625

rs_371086728

6 SubmittersRCV000281217 RCV000316406 RCV000375703 RCV000723801 RCV001088003

NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=)

SNV
Germline

Chr4:15586186

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA233634

rs_199688524

3 SubmittersRCV000152940 RCV000313289 RCV000407945 RCV001089089

NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000344957 RCV000399776 RCV000291841 RCV000400108 RCV000346891 RCV001085341 RCV003888583

NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)

SNV
Germline

Chr16:53622279

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA234809

rs_146902870

8 SubmittersRCV000252274 RCV000475862 RCV001116966 RCV001116965 RCV001116967 RCV001704116 RCV002294053

NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)

SNV
Germline

Chr17:58206158

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Microcephaly
Meckel syndrome, type 1
not specified
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA273756

rs_199910690

8 SubmittersRCV000161135 RCV000324288 RCV001082780 RCV001252740 RCV001272920 RCV001797645 RCV002467638

NM_001044385.3(TMEM237):c.869+1G>A

SNV
Germline

Chr2:201629229

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA186067

rs_730882231

4 SubmittersRCV000162151 RCV001332730

NM_001082538.3(TCTN1):c.342-2A>G

SNV
Germline

Chr12:110626360

Pathogenic

Typical Joubert syndrome MRI findings
Global developmental delay
Joubert syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA249937

rs_730882221

5 SubmittersRCV000162131 RCV000201626

NM_015272.5(RPGRIP1L):c.230+1G>A

SNV
Germline

Chr16:53696150

Likely pathogenic

Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA334279

rs_786204135

3 SubmittersRCV000168110 RCV001378306 RCV001536099

NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)

SNV
Germline

Chr17:58216694

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA334638

rs_786204222

2 SubmittersRCV000168353 RCV000665745

NM_001378615.1(CC2D2A):c.4437+1G>A

SNV
Germline

Chr4:15596208

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA236210

rs_786205568

2 SubmittersRCV000171374 RCV003987411

NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)

SNV
Germline

Chr16:75556131

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11
TMEM231-related disorder

Criteria Provided
Conflicting Classifications

CA238655

rs_370607340

4 SubmittersRCV000173201 RCV001430941 RCV003965240

NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)

SNV
Germline

Chr11:61392636

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel syndrome, type 2
Joubert syndrome 2
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

CA238698

rs_569734777

5 SubmittersRCV000173235 RCV000345023 RCV000391281 RCV001094053 RCV004535185

NM_153704.6(TMEM67):c.25G>A (p.Val9Met)

SNV
Germline

Chr8:93754939

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 1
Condition: not provided
6 conditions
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA200630

rs_199961375

7 SubmittersRCV000173581 RCV000860917 RCV000988093 RCV001704249 RCV002485119 RCV004539599

NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)

SNV
Germline

Chr2:110161690

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA239098

rs_371112962

4 SubmittersRCV000173662 RCV000305677 RCV000390136 RCV000353470 RCV001094562

NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)

SNV
Germline

Chr2:110161645

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect

Criteria Provided
Conflicting Classifications

CA239100

rs_794726975

3 SubmittersRCV000173663 RCV001852113 RCV002500458

NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)

SNV
Germline

Chr16:53664957

Conflicting classifications of pathogenicity

Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Familial aplasia of the vermis
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA239324

rs_137982921

10 SubmittersRCV000307599 RCV000339807 RCV000401583 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604

NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)

SNV
Germline

Chr5:37227308

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA239661

rs_374411782

7 SubmittersRCV000325656 RCV000724006 RCV001193382

NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)

SNV
Germline

Chr5:37227353

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200857

rs_139940282

5 SubmittersRCV000174162 RCV000361636 RCV000646719 RCV004020065

NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)

SNV
Germline

Chr8:93782407

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 1
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA200867

rs_140191346

7 SubmittersRCV000174181 RCV000988094 RCV001356583 RCV001409831 RCV004539607

NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)

SNV
Germline

Chr12:110645106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 13

Criteria Provided
Conflicting Classifications

CA239794

rs_201894544

5 SubmittersRCV000243338 RCV000724004 RCV001085845 RCV003137704

NM_017777.4(MKS1):c.1025-2A>C

SNV
Germline

Chr17:58208585

Pathogenic/Likely pathogenic

Condition: not provided
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346858

rs_794727070

4 SubmittersRCV000174384 RCV000671535 RCV003474925 RCV004537366

NM_001128178.3(NPHP1):c.1270-4C>T

SNV
Germline

Chr2:110146839

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240230

rs_151204566

8 SubmittersRCV000174670 RCV000230927 RCV001128802 RCV001128804 RCV001128803 RCV001699052

NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)

SNV
Germline

Chr5:37221446

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA240601

rs_794727154

2 SubmittersRCV000174951 RCV000611123

NM_025114.4(CEP290):c.1522+6C>T

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV000835406 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001084413 RCV001112002

NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)

SNV
Germline

Chr4:15537971

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240849

rs_201439617

7 SubmittersRCV000724892 RCV000765755 RCV001147083 RCV001147084 RCV001479910 RCV004020077

NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)

SNV
Germline

Chr4:15538112

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA206244

rs_16892134

10 SubmittersRCV000193025 RCV000351496 RCV000514696 RCV000404783 RCV001083444

NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)

SNV
Germline

Chr16:53645665

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA201346

rs_139503476

7 SubmittersRCV000175209 RCV000514096 RCV001082641 RCV001120643 RCV001120644 RCV001120642 RCV004537378

NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)

SNV
Germline

Chr4:15540872

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 1
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA241005

rs_200236654

5 SubmittersRCV000175281 RCV001145223 RCV001145224 RCV001239969 RCV001329599 RCV004537379

NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)

SNV
Germline

Chr4:15540994

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 1
Meckel syndrome, type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201373

rs_199768782

7 SubmittersRCV000175282 RCV000860615 RCV000987417 RCV001147192 RCV003436969

NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)

SNV
Germline

Chr5:37187826

Conflicting classifications of pathogenicity

Joubert syndrome 17
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242230

rs_145520487

9 SubmittersRCV000201620 RCV000254359 RCV000724250 RCV004020091

NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)

SNV
Germline

Chr2:165890935

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 1
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Chronic kidney disease
Nephronophthisis 12
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA201936

rs_146496725

12 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001085304 RCV001135581 RCV001171333 RCV001135582 RCV002277374

NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)

SNV
Germline

Chr5:37184881

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242574

rs_202103224

5 SubmittersRCV000176587 RCV001153832 RCV004020097

NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)

SNV
Germline

Chr12:88102849

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

10 SubmittersRCV000176690 RCV000192651 RCV000660467 RCV001082205 RCV001111528 RCV001111529 RCV001113514 RCV001113515 RCV001275025 RCV004528939

NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)

SNV
Germline

Chr11:61393958

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 2

Criteria Provided
Conflicting Classifications

CA202293

rs_57932685

5 SubmittersRCV000177125 RCV000533045 RCV001279272

NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)

SNV
Germline

Chr5:37175959

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA243792

rs_34161326

7 SubmittersRCV000317281 RCV000724144

NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)

SNV
Germline

Chr12:88089407

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Condition: not provided
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944

NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000320490 RCV000328615 RCV000364677 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947

NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)

SNV
Germline

Chr5:37245595

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245417

rs_139496915

4 SubmittersRCV000178339 RCV001152760 RCV004020121

NM_001384732.1(CPLANE1):c.8462-1G>C

SNV
Germline

Chr5:37142481

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
not specified
Inborn genetic diseases
See cases
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA275274

rs_151279194

10 SubmittersRCV000178539 RCV000778764 RCV001824663 RCV004020124 RCV002287379 RCV003457649

NM_001384732.1(CPLANE1):c.8958+4A>C

SNV
Germline

Chr5:37125240

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA245783

rs_199810663

8 SubmittersRCV000247706 RCV000321409 RCV000428354 RCV003891741

NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)

SNV
Germline

Chr2:201633358

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203261

rs_191125006

9 SubmittersRCV000179367 RCV000625459 RCV001704855

NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)

SNV
Germline

Chr2:165941046

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 1
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA246806

rs_149925563

9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001087340 RCV001132638 RCV001132639 RCV004537489

NM_024809.5(TCTN2):c.720C>G (p.Pro240=)

SNV
Germline

Chr12:123686991

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel syndrome, type 8
Joubert syndrome 24
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA246813

rs_149430216

7 SubmittersRCV000249746 RCV000724485 RCV001114227 RCV001110188 RCV001086250

NM_024809.5(TCTN2):c.615C>T (p.Gly205=)

SNV
Germline

Chr12:123686886

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 8
Joubert syndrome 24
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203333

rs_147485641

6 SubmittersRCV000179535 RCV000556780 RCV001112868 RCV001112867 RCV001550115

NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinal dystrophy
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

7 SubmittersRCV000179537 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV003227695 RCV003888636 RCV003488430 RCV004539683

NM_025114.4(CEP290):c.341G>A (p.Arg114His)

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Joubert syndrome 5
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

11 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490

NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)

SNV
Germline

Chr4:15502836

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA203454

rs_186264635

6 SubmittersRCV000179808 RCV000416151 RCV001082663 RCV001147861 RCV001147862

NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)

SNV
Germline

Chr4:15502840

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA247115

rs_202150325

9 SubmittersRCV000248937 RCV000275309 RCV000365106 RCV000724326 RCV001082303

NM_024809.5(TCTN2):c.810C>T (p.Asp270=)

SNV
Germline

Chr12:123688096

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 24
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203516

rs_144567556

7 SubmittersRCV000179977 RCV000275193 RCV000465788 RCV000327984 RCV001721126

NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)

SNV
Germline

Chr6:135457612

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 3
Familial aplasia of the vermis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247748

rs_200927282

5 SubmittersRCV000250813 RCV000724880 RCV001155546 RCV001206260 RCV002517761

NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)

SNV
Germline

Chr5:37231020

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA248228

rs_373704405

4 SubmittersRCV000180684 RCV000201580

NM_001329943.3(KIAA0586):c.1254-1G>C

SNV
Germline

Chr14:58456701

Pathogenic

Joubert syndrome 23
Condition: not provided
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Multiple Submitters
No Conflicts

CA204047

rs_757350052

8 SubmittersRCV000186591 RCV000479178 RCV000652577

NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter)

SNV
Germline

Chr14:58450617

Pathogenic

Joubert syndrome 23
Condition: not provided
KIAA0586-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA204048

rs_796052128

4 SubmittersRCV000186592 RCV002272164 RCV003401023

NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val)

SNV
Germline

Chr14:58457934

Pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

CA204051

rs_796052129

2 SubmittersRCV000186594

NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)

SNV
Germline

Chr10:95686506

Pathogenic

Orofacial-digital syndrome IV
Orofacial-digital syndrome IV
Joubert syndrome 18

Criteria Provided
Multiple Submitters
No Conflicts

CA204583

rs_764091969

2 SubmittersRCV000190630 RCV002517029

NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)

SNV
Germline

Chr14:58458545

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Multiple Submitters
No Conflicts

CA214896

rs_762081862

4 SubmittersRCV000190841 RCV001268478 RCV001389448

NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)

SNV
Germline

Chr2:201626120

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209023

rs_149240122

8 SubmittersRCV000194685 RCV000558256 RCV001706169

NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)

SNV
Germline

Chr4:15538112

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208880

rs_16892134

5 SubmittersRCV000194608 RCV000862063 RCV001149616 RCV001149617 RCV001705077

NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)

SNV
Germline

Chr4:15557361

Pathogenic/Likely pathogenic

Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA209079

rs_764719093

6 SubmittersRCV000194720 RCV000763523 RCV003238731 RCV003765214 RCV004528978

NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)

SNV
Germline

Chr4:15580068

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA205784

rs_370492044

6 SubmittersRCV000192749 RCV000293449 RCV000348318 RCV001521745 RCV001697269 RCV004541237

NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)

SNV
Germline

Chr4:15589661

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 9
Meckel syndrome, type 6
CC2D2A-related disorder
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA209579

rs_372671421

8 SubmittersRCV000195028 RCV000301860 RCV000361304 RCV000265440 RCV000727171 RCV001428613

NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)

SNV
Germline

Chr5:37138722

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA208963

rs_148005445

8 SubmittersRCV000194651 RCV000878808 RCV001157836 RCV003927768

NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)

SNV
Germline

Chr5:37183664

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206075

rs_141911199

9 SubmittersRCV000192922 RCV000625259 RCV000726605

NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)

SNV
Germline

Chr6:135433206

Likely pathogenic

Joubert syndrome 3
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA277462

rs_797045224

2 SubmittersRCV000195247 RCV000504798

NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)

SNV
Germline

Chr6:135442633

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA277278

rs_797045223

4 SubmittersRCV000194226 RCV000599258 RCV000820311

NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)

SNV
Germline

Chr8:93755851

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA205731

rs_797046045

3 SubmittersRCV000192720 RCV000201747 RCV003765239

NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)

SNV
Germline

Chr9:136433044

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 1
Condition: not provided
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA205994

rs_558778286

5 SubmittersRCV000192872 RCV000285933 RCV001095354 RCV003430742 RCV004530118

NM_019892.6(INPP5E):c.875G>A (p.Arg292His)

SNV
Germline

Chr9:136434801

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 1
Inborn genetic diseases
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA209401

rs_199873582

6 SubmittersRCV000194920 RCV001044083 RCV001166425 RCV002517084 RCV004528981

NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)

SNV
Germline

Chr16:53641352

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided
Joubert syndrome 7
Inborn genetic diseases
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA207998

rs_146197239

10 SubmittersRCV000194076 RCV000861106 RCV001117062 RCV001117063 RCV001698998 RCV001117064 RCV002517128 RCV001833139

NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)

SNV
Germline

Chr16:53687963

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Familial aplasia of the vermis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206389

rs_140067659

9 SubmittersRCV000193122 RCV000861107 RCV001120944 RCV001120942 RCV001120943 RCV001271340 RCV001699228 RCV004020339

NM_001077418.3(TMEM231):c.891G>A (p.Val297=)

SNV
Germline

Chr16:75540054

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Conflicting Classifications

CA207208

rs_149888762

4 SubmittersRCV000193611 RCV000650611

NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)

SNV
Germline

Chr17:58212996

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 13
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347417

rs_797045706

4 SubmittersRCV000194216 RCV000672938 RCV003474946 RCV003765230

NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)

SNV
Germline

ChrX:13763840

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Joubert syndrome 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA205192

rs_797045846

4 SubmittersRCV000192398 RCV001223911 RCV002485287 RCV004020331

NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)

SNV
Germline

Chr12:88086450

Likely pathogenic

Senior-Loken syndrome 6
Bardet-Biedl syndrome
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5

No Assertion Criteria Provided

CA347348

rs_797044604

1 SubmittersRCV000192446

NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)

SNV
Germline

Chr2:110123964

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
not specified
Inborn genetic diseases
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA336743

rs_780427871

6 SubmittersRCV000196832 RCV000730183 RCV001128696 RCV001135698 RCV001128695 RCV002282034 RCV002517295 RCV002478707

NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)

SNV
Germline

Chr4:15563386

Conflicting classifications of pathogenicity

Joubert syndrome 9
Condition: not provided
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA338306

rs_373960465

8 SubmittersRCV000350715 RCV000344416 RCV000405623 RCV001087622 RCV002227457 RCV004530191

NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)

SNV
Germline

Chr6:135318527

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
not specified
Joubert syndrome 3
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA335852

rs_201148693

5 SubmittersRCV000195696 RCV000248598 RCV001157001 RCV001252130 RCV001596984

NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)

SNV
Germline

Chr6:135457656

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
not specified
Joubert syndrome 3
Condition: not provided
Inborn genetic diseases
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA338680

rs_200201741

8 SubmittersRCV000199507 RCV000346238 RCV001157230 RCV001576697 RCV002517286 RCV003927849

NM_153704.6(TMEM67):c.186T>C (p.Cys62=)

SNV
Germline

Chr8:93755100

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
not specified
Meckel syndrome, type 3
Joubert syndrome 6
Nephronophthisis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336379

rs_115660279

6 SubmittersRCV000196386 RCV000245192 RCV000291370 RCV000339372 RCV000377674 RCV001705157

NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)

SNV
Germline

Chr8:93780603

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 6
Inborn genetic diseases
Condition: not provided
Abnormality of the nervous system
COACH syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA277789

rs_775883520

9 SubmittersRCV000198666 RCV000201726 RCV000624166 RCV001090385 RCV001814102 RCV002283466

NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)

SNV
Unknown

Chr3:93995879

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

CA279441

rs_863225149

1 SubmittersRCV000201642

NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)

SNV
Germline

Chr3:94035411

Conflicting classifications of pathogenicity

Joubert syndrome 8
not specified

Criteria Provided
Conflicting Classifications

CA277722

rs_758972393

3 SubmittersRCV000201595 RCV002282036

NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)

SNV
Germline

Chr4:15533284

Pathogenic/Likely pathogenic

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210275

rs_781252161

4 SubmittersRCV000201589 RCV000458965 RCV000763522 RCV001814111

NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)

SNV
Germline

Chr4:15536988

Pathogenic

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210253

rs_754221308

2 SubmittersRCV000201529 RCV002515475

NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter)

SNV
Unknown

Chr4:15555209

Pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

CA210272

rs_200904521

1 SubmittersRCV000201574

NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys)

SNV
Germline

Chr4:15557349

Pathogenic

Joubert syndrome 9
Neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279541

rs_863225178

2 SubmittersRCV000201758 RCV003389049

NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)

SNV
Germline

Chr4:15560607

Pathogenic

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210338

rs_773881370

3 SubmittersRCV000201775 RCV001853233

NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)

SNV
Germline

Chr4:15563395

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210269

rs_370880399

9 SubmittersRCV000201572 RCV000489696 RCV000763524 RCV000702498 RCV000778722

NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)

SNV
Germline

Chr4:15563474

Pathogenic

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279522

rs_863225173

2 SubmittersRCV000201741 RCV003765303

NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)

SNV
Germline

Chr4:15567482

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
Ciliopathy

Criteria Provided
Conflicting Classifications

CA279501

rs_863225169

3 SubmittersRCV000201720 RCV001234448 RCV003993887

NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)

SNV
Germline

Chr4:15569346

Conflicting classifications of pathogenicity

Joubert syndrome 9
not specified

Criteria Provided
Conflicting Classifications

CA279438

rs_863225170

2 SubmittersRCV000201640 RCV003330577

NM_001378615.1(CC2D2A):c.3594+5G>A

SNV
Germline

Chr4:15570501

Conflicting classifications of pathogenicity

Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA279555

rs_863225181

3 SubmittersRCV000201770 RCV000319494 RCV001853234

NM_001378615.1(CC2D2A):c.3772-1G>T

SNV
Unknown

Chr4:15579967

Pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

CA279449

rs_863225172

1 SubmittersRCV000201649

NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)

SNV
Germline

Chr4:15580046

Pathogenic/Likely pathogenic

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA210258

rs_779823379

4 SubmittersRCV000201552 RCV001853232 RCV001261604

NM_001378615.1(CC2D2A):c.3976-3C>A

SNV
Germline

Chr4:15586154

Conflicting classifications of pathogenicity

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA210298

rs_576298659

2 SubmittersRCV000201676 RCV002519579

NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)

SNV
Germline

Chr4:15586170

Conflicting classifications of pathogenicity

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA210320

rs_763486732

4 SubmittersRCV000201714 RCV001067961 RCV003323453 RCV003144159

NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)

SNV
Germline

Chr4:15589591

Pathogenic/Likely pathogenic

Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA279416

rs_863225176

2 SubmittersRCV000201617

NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)

SNV
Germline

Chr4:15589654

Pathogenic/Likely pathogenic

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279397

rs_863225168

2 SubmittersRCV000201598 RCV003765301

NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)

SNV
Unknown

Chr4:15597460

Pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

CA279430

rs_863225179

1 SubmittersRCV000201637

NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)

SNV
Germline

Chr4:15599632

Conflicting classifications of pathogenicity

Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA210287

rs_778858648

2 SubmittersRCV000201634 RCV000541700

NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)

SNV
Germline

Chr4:15599699

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder
Inborn genetic diseases
COACH syndrome 1
Neurodevelopmental disorder
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210318

rs_201502401

15 SubmittersRCV000201706 RCV000286210 RCV000347415 RCV000474430 RCV000778102 RCV001266486 RCV001542750 RCV002277554 RCV003317149

NM_001378615.1(CC2D2A):c.4741A>G (p.Thr1581Ala)

SNV
Unknown

Chr4:15601303

Pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

CA279482

rs_863225174

1 SubmittersRCV000201684

NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)

SNV
Germline

Chr5:37120306

Pathogenic/Likely pathogenic

Joubert syndrome 17
Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17
Familial aplasia of the vermis
See cases
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA277758

rs_374144275

9 SubmittersRCV000201669 RCV000357854 RCV000697060 RCV001849341 RCV002252055 RCV002298520

NM_001384732.1(CPLANE1):c.9017+1G>T

SNV
Unknown

Chr5:37122429

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA279532

rs_863225154

1 SubmittersRCV000201749

NM_001384732.1(CPLANE1):c.9017+1G>A

SNV
Germline

Chr5:37122429

Pathogenic/Likely pathogenic

Joubert syndrome 17
Joubert syndrome 1
Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279466

rs_863225154

4 SubmittersRCV000201659 RCV000987513 RCV002500627 RCV001857740

NM_001384732.1(CPLANE1):c.8878G>T (p.Glu2960Ter)

SNV
Unknown

Chr5:37125324

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA279349

rs_863225153

1 SubmittersRCV000201530

NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)

SNV
Germline

Chr5:37125330

Pathogenic

Joubert syndrome 17
Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA277713

rs_141507441

8 SubmittersRCV000201591 RCV000523918 RCV002503790 RCV004020485

NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter)

SNV
Germline

Chr5:37138742

Pathogenic

Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279534

rs_863225155

3 SubmittersRCV000201751 RCV000432168

NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter)

SNV
Unknown

Chr5:37153784

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA279445

rs_863225152

1 SubmittersRCV000201646

NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)

SNV
Germline

Chr5:37153973

Pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277737

rs_147416429

5 SubmittersRCV000201628 RCV001332490 RCV002517309

NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)

SNV
Germline

Chr5:37157810

Pathogenic

Joubert syndrome 17
Condition: not provided
Global developmental delay
Jaundice
Joubert syndrome 17
Orofaciodigital syndrome type 6
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA277813

rs_749523755

10 SubmittersRCV000201773 RCV000255254 RCV000415153 RCV000646703 RCV001198869

NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)

SNV
Germline

Chr5:37158258

Pathogenic/Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA279479

rs_863225159

3 SubmittersRCV000201681 RCV003987448

NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)

SNV
Germline

Chr5:37198775

Pathogenic

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA277732

rs_141153181

5 SubmittersRCV000255261 RCV000201619 RCV000677320

NM_001384732.1(CPLANE1):c.3007G>T (p.Glu1003Ter)

SNV
Unknown

Chr5:37206339

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA279443

rs_863225162

1 SubmittersRCV000201644

NM_001384732.1(CPLANE1):c.2999G>T (p.Trp1000Leu)

SNV
Unknown

Chr5:37206347

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA277797

rs_773362418

1 SubmittersRCV000201737

NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter)

SNV
Germline

Chr5:37206423

Pathogenic

Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279485

rs_863225166

2 SubmittersRCV000201687 RCV002519578

NM_001384732.1(CPLANE1):c.2831G>A (p.Arg944His)

SNV
Unknown

Chr5:37213648

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA279378

rs_863225165

1 SubmittersRCV000201577

NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter)

SNV
Germline

Chr5:37221361

Pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279530

rs_863225164

3 SubmittersRCV000201748 RCV002492926 RCV003401086

NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys)

SNV
Germline

Chr5:37221459

Pathogenic/Likely pathogenic

Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277756

rs_760906097

4 SubmittersRCV000201667 RCV001376973 RCV003897435

NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr5:37224655

Pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277686

rs_776886962

3 SubmittersRCV000201525 RCV002485328 RCV003556249

NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)

SNV
Germline

Chr5:37224679

Pathogenic

Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279458

rs_863225163

5 SubmittersRCV000201655 RCV000362856

NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter)

SNV
Germline

Chr5:37226320

Pathogenic

Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279425

rs_863225158

3 SubmittersRCV000201623 RCV002515474 RCV003955215

NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)

SNV
Germline

Chr5:37226811

Pathogenic

Joubert syndrome 17
Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA277773

rs_530569572

7 SubmittersRCV000201692 RCV000523063 RCV002478717 RCV003230448

NM_001384732.1(CPLANE1):c.817A>C (p.Asn273His)

SNV
Germline

Chr5:37239730

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA279544

rs_863225167

3 SubmittersRCV000201759 RCV001065433 RCV003390946

NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)

SNV
Germline

Chr5:37244521

Conflicting classifications of pathogenicity

Joubert syndrome 17
not specified
Condition: not provided
Nephronophthisis
Joubert syndrome and related disorders
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA277763

rs_756856188

8 SubmittersRCV000201674 RCV000500106 RCV000686452 RCV001328280 RCV003330576 RCV003907754

NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)

SNV
Unknown

Chr6:135427226

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA277806

rs_368788993

1 SubmittersRCV000201756

NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)

SNV
Germline

Chr6:135427244

Pathogenic

Joubert syndrome 3
Condition: not provided
Familial aplasia of the vermis
AHI1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279374

rs_863225135

4 SubmittersRCV000201566 RCV001091216 RCV001240194 RCV003407712

NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)

SNV
Germline

Chr6:135428757

Pathogenic/Likely pathogenic

Joubert syndrome 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279357

rs_863225131

2 SubmittersRCV000201542 RCV003114363

NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)

SNV
Unknown

Chr6:135431220

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA279355

rs_863225146

1 SubmittersRCV000201540

NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)

SNV
Germline

Chr6:135431284

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA279563

rs_863225139

2 SubmittersRCV000201786 RCV003495118

NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)

SNV
Germline

Chr6:135433081

Pathogenic

Joubert syndrome 3
Condition: not provided
Retinitis pigmentosa
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA277726

rs_372659908

5 SubmittersRCV000201604 RCV000255574 RCV001002863 RCV001387494

NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)

SNV
Germline

Chr6:135433120

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279352

rs_863225144

4 SubmittersRCV000201537 RCV000817125 RCV003235125 RCV003237762

NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)

SNV
Germline

Chr6:135433137

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279368

rs_863225134

2 SubmittersRCV000201556 RCV000497534

NM_001134831.2(AHI1):c.2036+1G>T

SNV
Unknown

Chr6:135438374

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA277734

rs_776093293

1 SubmittersRCV000201625

NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)

SNV
Unknown

Chr6:135438388

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA279503

rs_863225145

1 SubmittersRCV000201721

NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)

SNV
Germline

Chr6:135438399

Conflicting classifications of pathogenicity

Joubert syndrome 3
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA277741

rs_772989270

3 SubmittersRCV000201635 RCV001731519 RCV003495117

NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)

SNV
Germline

Chr6:135438414

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA279428

rs_863225147

3 SubmittersRCV000201632 RCV000414742 RCV001051208

NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)

SNV
Germline

Chr6:135438435

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA277783

rs_541041911

2 SubmittersRCV000201711 RCV001853231

NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)

SNV
Unknown

Chr6:135438494

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA277799

rs_764412921

1 SubmittersRCV000201738

NM_001134831.2(AHI1):c.1626+1G>A

SNV
Germline

Chr6:135448289

Pathogenic/Likely pathogenic

Joubert syndrome 3
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279376

rs_863225137

3 SubmittersRCV000201568 RCV001064139 RCV002277553

NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)

SNV
Germline

Chr6:135448400

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA277801

rs_371637724

3 SubmittersRCV000201739 RCV000702666

NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)

SNV
Germline

Chr6:135455811

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis
Condition: not provided
Retinal dystrophy
Nephronophthisis
Rod-cone dystrophy
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA339611

rs_777668842

9 SubmittersRCV000201715 RCV000206729 RCV000482493 RCV001074545 RCV001328119 RCV001376375 RCV003317148

NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)

SNV
Germline

Chr6:135455818

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA279421

rs_863225143

4 SubmittersRCV000201621 RCV001853230

NM_001134831.2(AHI1):c.1152-2A>G

SNV
Germline

Chr6:135455928

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA277693

rs_753085250

2 SubmittersRCV000201545 RCV003495116

NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)

SNV
Unknown

Chr6:135457530

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA279507

rs_863225133

1 SubmittersRCV000201728

NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)

SNV
Germline

Chr6:135465827

Pathogenic

Joubert syndrome 3
See cases
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279546

rs_863225142

3 SubmittersRCV000201760 RCV002287391 RCV003330575

NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)

SNV
Germline

Chr6:135465901

Pathogenic

Joubert syndrome 3
Joubert syndrome and related disorders
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA279475

rs_863225138

4 SubmittersRCV000201668 RCV002469064 RCV003765300

NM_001382391.1(CSPP1):c.923+1G>C

SNV
Germline

Chr8:67095733

Pathogenic

Joubert syndrome 21
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279386

rs_863225194

3 SubmittersRCV000201587 RCV001847909

NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)

SNV
Germline

Chr8:67111983

Pathogenic/Likely pathogenic

Joubert syndrome 21
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210307

rs_374703898

3 SubmittersRCV000201690 RCV000520785

NM_001382391.1(CSPP1):c.1697+1G>T

SNV
Unknown

Chr8:67118822

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA279533

rs_863225193

2 SubmittersRCV000201750

NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)

SNV
Germline

Chr8:67158480

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA210345

rs_771203308

2 SubmittersRCV000201785

NM_001382391.1(CSPP1):c.3220+1G>A

SNV
Unknown

Chr8:67179927

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA210268

rs_773954226

1 SubmittersRCV000201570

NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)

SNV
Germline

Chr8:93755798

Conflicting classifications of pathogenicity

Joubert syndrome 6
not specified

Criteria Provided
Conflicting Classifications

CA277745

rs_762543032

2 SubmittersRCV000201641 RCV003330578

NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)

SNV
Germline

Chr8:93755799

Conflicting classifications of pathogenicity

Joubert syndrome 6
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA277696

rs_772437766

4 SubmittersRCV000201553 RCV000435911 RCV003765306

NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)

SNV
Germline

Chr8:93755854

Pathogenic

Joubert syndrome 6
6 conditions
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277785

rs_751309268

3 SubmittersRCV000201716 RCV002500632 RCV003765305

NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg)

SNV
Unknown

Chr8:93758559

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279467

rs_863225226

1 SubmittersRCV000201664

NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)

SNV
Germline

Chr8:93765414

Conflicting classifications of pathogenicity

Joubert syndrome 6
not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA277766

rs_750950408

3 SubmittersRCV000201683 RCV002222442 RCV001853242

NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala)

SNV
Unknown

Chr8:93780608

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279514

rs_863225229

1 SubmittersRCV000201733

NM_153704.6(TMEM67):c.769A>G (p.Met257Val)

SNV
Germline

Chr8:93780647

Pathogenic/Likely pathogenic

Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA279411

rs_863225227

3 SubmittersRCV000201614 RCV002517316 RCV002500631

NM_153704.6(TMEM67):c.978+3A>G

SNV
Germline

Chr8:93780985

Conflicting classifications of pathogenicity

Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA277782

rs_775256658

2 SubmittersRCV000201705 RCV001853241

NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)

SNV
Germline

Chr8:93782402

Pathogenic/Likely pathogenic

Joubert syndrome 6
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279392

rs_863225232

3 SubmittersRCV000201590 RCV004528990

NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)

SNV
Unknown

Chr8:93782410

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279340

rs_863225237

1 SubmittersRCV000201527

NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)

SNV
Germline

Chr8:93782444

Pathogenic/Likely pathogenic

Joubert syndrome 6
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA279345

rs_863225235

5 SubmittersRCV000201528 RCV000419395 RCV000636949 RCV002478718

NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu)

SNV
Unknown

Chr8:93782455

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279510

rs_863225231

1 SubmittersRCV000201732

NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)

SNV
Germline

Chr8:93786255

Conflicting classifications of pathogenicity

Joubert syndrome 6
Oligohydramnios
Renal cyst
Familial aplasia of the vermis
Inborn genetic diseases
14 conditions
Meckel syndrome, type 3
Bardet-Biedl syndrome 14
COACH syndrome 1
Nephronophthisis 11
Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 3

Criteria Provided
Conflicting Classifications

CA277817

rs_752362727

6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV003997037

NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)

SNV
Germline

Chr8:93786285

Pathogenic

Joubert syndrome 6
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277776

rs_116647652

5 SubmittersRCV000201701 RCV001536330 RCV001853243

NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)

SNV
Unknown

Chr8:93787884

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279362

rs_863225228

1 SubmittersRCV000201544

NM_153704.6(TMEM67):c.1674+3A>G

SNV
Germline

Chr8:93793299

Conflicting classifications of pathogenicity

Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA279381

rs_863225224

2 SubmittersRCV000201579 RCV002517315

NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu)

SNV
Unknown

Chr8:93797184

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279471

rs_863225225

1 SubmittersRCV000201665

NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)

SNV
Germline

Chr8:93797456

Conflicting classifications of pathogenicity

Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 3
Nephronophthisis 11
not specified

Criteria Provided
Conflicting Classifications

CA279453

rs_863225238

5 SubmittersRCV000201654 RCV001307480 RCV001161723 RCV001163244 RCV001804938

NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)

SNV
Germline

Chr8:93803652

Pathogenic

Joubert syndrome 6
6 conditions
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277715

rs_751517725

5 SubmittersRCV000201592 RCV002503793 RCV003128594 RCV002515477

NM_153704.6(TMEM67):c.2368C>A (p.His790Asn)

SNV
Unknown

Chr8:93804807

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279433

rs_863225230

1 SubmittersRCV000201638

NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)

SNV
Germline

Chr8:93808922

Conflicting classifications of pathogenicity

Joubert syndrome 6
not specified

Criteria Provided
Conflicting Classifications

CA279405

rs_863225234

2 SubmittersRCV000201610 RCV001804937

NM_153704.6(TMEM67):c.2661+5G>A

SNV
Unknown

Chr8:93809166

Likely pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279351

rs_863225239

1 SubmittersRCV000201535

NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu)

SNV
Unknown

Chr8:93815341

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279461

rs_863225236

1 SubmittersRCV000201657

NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys)

SNV
Germline

Chr8:93815365

Conflicting classifications of pathogenicity

Joubert syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279557

rs_863225233

2 SubmittersRCV000201774 RCV001753605

NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)

SNV
Germline

Chr9:136434050

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277795

rs_780882740

4 SubmittersRCV000201735 RCV001267700 RCV001775666

NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)

SNV
Germline

Chr10:95693897

Pathogenic/Likely pathogenic

Joubert syndrome 18
Joubert syndrome 18
Orofacial-digital syndrome IV
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210256

rs_745688122

4 SubmittersRCV000201547 RCV000796275 RCV003227713

NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)

SNV
Germline

Chr11:61393963

Conflicting classifications of pathogenicity

Joubert syndrome 2
Familial aplasia of the vermis
not specified

Criteria Provided
Conflicting Classifications

CA277707

rs_541666319

5 SubmittersRCV000201571 RCV000869264 RCV002282037

NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)

SNV
Germline

Chr11:61393964

Conflicting classifications of pathogenicity

Joubert syndrome 2
Condition: not provided
Familial aplasia of the vermis
Abnormality of the nervous system

Criteria Provided
Conflicting Classifications

CA277803

rs_779526456

6 SubmittersRCV000201742 RCV000595708 RCV001053459 RCV001814113

NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)

SNV
Germline

Chr11:61397942

Pathogenic/Likely pathogenic

Joubert syndrome 2
Condition: not provided
Familial aplasia of the vermis
Joubert syndrome 2
Meckel syndrome, type 2
TMEM216-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277700

rs_755459875

6 SubmittersRCV000201555 RCV000443367 RCV001853240 RCV002503792 RCV004530208

NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)

SNV
Germline

Chr12:123694859

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Conflicting Classifications

CA210299

rs_187433682

2 SubmittersRCV000201680 RCV000310999 RCV000778106

NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)

SNV
Germline

Chr12:123704670

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210283

rs_201010803

3 SubmittersRCV000201600 RCV001853238 RCV001582698

NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)

SNV
Unknown

Chr12:88055597

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA279539

rs_863225187

2 SubmittersRCV000201753 RCV004567442

NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)

SNV
Unknown

Chr12:88068585

Pathogenic

Joubert syndrome 5

Criteria Provided
Single Submitter

CA277694

rs_779262951

1 SubmittersRCV000201548

NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)

SNV
Germline

Chr12:88071373

Pathogenic

Joubert syndrome 5
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277735

rs_371525247

4 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV003468924

NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)

SNV
Germline

Chr12:88079112

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

6 SubmittersRCV000201766 RCV000763310 RCV000598977 RCV001058542 RCV003468923

NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)

SNV
Germline

Chr12:88083161

Pathogenic

Joubert syndrome 5
Blindness
Global developmental delay
Condition: not provided
Occipital encephalocele
Cystic renal dysplasia
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Inborn genetic diseases
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

10 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354

NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)

SNV
Germline

Chr12:88084768

Pathogenic

Joubert syndrome 5
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

13 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926

NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)

SNV
Germline

Chr12:88086083

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Leber congenital amaurosis
Occipital encephalocele
Leber congenital amaurosis 10
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

14 SubmittersRCV000201563 RCV000502726 RCV000816913 RCV000763314 RCV001002937 RCV001030764 RCV001589085 RCV001529566 RCV003468919

NM_025114.4(CEP290):c.2343T>C (p.Asn781=)

SNV
Germline

Chr12:88111226

Conflicting classifications of pathogenicity

Joubert syndrome 5
Retinal dystrophy
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA277728

rs_748034744

3 SubmittersRCV000201605 RCV001074504 RCV001471584

NM_025114.4(CEP290):c.1623+1G>A

SNV
Germline

Chr12:88118642

Pathogenic

Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA279529

rs_863225186

4 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922

NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)

SNV
Germline

Chr12:88130283

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279451

rs_863225185

4 SubmittersRCV000201653 RCV000503197 RCV003159108 RCV002519580

NM_025114.4(CEP290):c.103-1G>T

SNV
Unknown

Chr12:88141034

Pathogenic

Joubert syndrome 5

Criteria Provided
Single Submitter

CA279380

rs_863225188

1 SubmittersRCV000201578

NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)

SNV
Germline

Chr13:72835359

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 33
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA210261

rs_17089782

8 SubmittersRCV000201558 RCV000515458 RCV001169935 RCV002057037

NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr14:58444011

Pathogenic

Joubert syndrome 23
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210316

rs_201097695

2 SubmittersRCV000201703 RCV001781606

NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)

SNV
Germline

Chr14:58482712

Pathogenic

Joubert syndrome 23
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA210305

rs_540255320

2 SubmittersRCV000201686 RCV001060061

NM_015272.5(RPGRIP1L):c.3701+1G>T

SNV
Unknown

Chr16:53610966

Pathogenic

Joubert syndrome 7

Criteria Provided
Single Submitter

CA279549

rs_863225219

1 SubmittersRCV000201765

NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)

SNV
Germline

Chr16:53619112

Pathogenic

Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277753

rs_778533826

5 SubmittersRCV000201661 RCV001853237 RCV002517313 RCV002492927 RCV002509297

NM_015272.5(RPGRIP1L):c.2305-1G>A

SNV
Germline

Chr16:53646004

Pathogenic

Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA279339

rs_863225215

2 SubmittersRCV000201526

NM_015272.5(RPGRIP1L):c.1243+1G>A

SNV
Germline

Chr16:53664869

Pathogenic

Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279377

rs_863225218

2 SubmittersRCV000201573 RCV001853236

NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys)

SNV
Germline

Chr17:19360357

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 27
B9D1-related disorder

Criteria Provided
Conflicting Classifications

CA210301

rs_771170000

3 SubmittersRCV000201685 RCV000241546 RCV000778492

NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)

SNV
Germline

Chr17:58207959

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Condition: not provided
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
not specified

Criteria Provided
Conflicting Classifications

CA210326

rs_773684291

6 SubmittersRCV000201754 RCV000479872 RCV000984285 RCV000984286 RCV000984284 RCV001853235 RCV003230449

NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)

SNV
Germline

Chr17:58214763

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA210278

rs_779953982

4 SubmittersRCV000201596 RCV000675062 RCV001123799 RCV001123798 RCV002517312

NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)

SNV
Germline

Chr19:41354765

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome and related disorders
Joubert syndrome 34

Criteria Provided
Multiple Submitters
No Conflicts

CA210341

rs_750436680

3 SubmittersRCV000201776 RCV001844085 RCV002265681

NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)

SNV
Germline

Chr19:41355008

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome and related disorders
Joubert syndrome 34

Criteria Provided
Multiple Submitters
No Conflicts

CA279487

rs_863225150

3 SubmittersRCV000201694 RCV001844086 RCV002265683

NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)

SNV
Germline

Chr19:41358004

Pathogenic

Familial aplasia of the vermis
Joubert syndrome 34

Criteria Provided
Single Submitter

CA210285

rs_757863670

2 SubmittersRCV000201607 RCV002265682

NM_003611.3(OFD1):c.149A>G (p.His50Arg)

SNV
Germline

ChrX:13736515

Conflicting classifications of pathogenicity

Joubert syndrome 10
Familial aplasia of the vermis
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279419

rs_863225213

3 SubmittersRCV000201618 RCV001307208 RCV002307444

NM_003611.3(OFD1):c.277G>T (p.Val93Phe)

SNV
Unknown

ChrX:13736643

Pathogenic

Joubert syndrome 10

Criteria Provided
Single Submitter

CA279491

rs_863225211

1 SubmittersRCV000201699

NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)

SNV
Germline

ChrX:13767195

Pathogenic

Joubert syndrome 10
Condition: not provided
Orofaciodigital syndrome I
Familial aplasia of the vermis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA279372

rs_863225212

4 SubmittersRCV000201562 RCV000484195 RCV001383220 RCV003888641

NM_024809.5(TCTN2):c.1235-1G>A

SNV
Germline

Chr12:123695219

Pathogenic

Joubert syndrome 24

No Assertion Criteria Provided

CA279858

rs_863225425

1 SubmittersRCV000202333

NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter)

SNV
Germline

Chr12:123706829

Pathogenic

Joubert syndrome 24
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA279864

rs_863225426

2 SubmittersRCV000202341 RCV003765308

NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)

SNV
Germline

Chr16:27749634

Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome 26

Criteria Provided
Single Submitter

CA280927

rs_864309712

2 SubmittersRCV000203288 RCV000207324

NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)

SNV
Germline

Chr4:88067937

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
not specified
Polycystic kidney disease 2
Polycystic kidney disease
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348383

rs_2234917

12 SubmittersRCV000204140 RCV000253113 RCV001000584 RCV001292230 RCV001258257 RCV001705172

NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)

SNV
Germline

Chr17:58206150

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Meckel syndrome, type 1
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA350413

rs_35464956

4 SubmittersRCV000206374 RCV000664903 RCV001271767 RCV004530224

NM_014704.4(CEP104):c.735+2T>C

SNV
Germline

Chr1:3839606

Pathogenic

Joubert syndrome 25
Condition: not provided

Criteria Provided
Single Submitter

CA351558

rs_869025276

2 SubmittersRCV000207253 RCV003441789

NM_014704.4(CEP104):c.496C>T (p.Arg166Ter)

SNV
Germline

Chr1:3844977

Pathogenic

Joubert syndrome 25

No Assertion Criteria Provided

CA351420

rs_374574638

1 SubmittersRCV000207197

NM_014704.4(CEP104):c.2572-2A>G

SNV
Germline

Chr1:3816372

Pathogenic

Joubert syndrome 25

No Assertion Criteria Provided

CA351564

rs_869025278

1 SubmittersRCV000207283

NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter)

SNV
Germline

Chr12:110640437

Pathogenic

Joubert syndrome 13
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA352256

rs_751962801

2 SubmittersRCV000207452 RCV003765338

NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)

SNV
Germline

Chr16:53652951

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057711

rs_148230131

8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002519757 RCV002500747 RCV004529383

NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)

SNV
Germline

Chr17:58214748

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA8669502

rs_756853299

5 SubmittersRCV000224251 RCV000668874 RCV001049084 RCV003475049

NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)

SNV
Germline

Chr16:53664948

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Meckel syndrome, type 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis 8
Joubert syndrome 7
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057886

rs_79708859

8 SubmittersRCV000224232 RCV000253760 RCV001120842 RCV001079549 RCV001120843 RCV001120844 RCV001833234 RCV004529384

NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)

SNV
Germline

Chr7:130404666

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 15
Familial Autism Spectrum Disorder

Criteria Provided
Conflicting Classifications

CA4485603

rs_141025803

4 SubmittersRCV000224397 RCV000265231 RCV001261713

NM_025114.4(CEP290):c.251-11T>A

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386

NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)

SNV
Germline

Chr17:58216137

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669556

rs_202112856

10 SubmittersRCV000224664 RCV000318559 RCV000695608 RCV000765373 RCV001126449 RCV001126448 RCV004541364

NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)

SNV
Germline

Chr12:88117076

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829

NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)

SNV
Germline

Chr4:15550968

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863889

rs_200764366

6 SubmittersRCV000726192 RCV000765757 RCV001084783 RCV001150183 RCV001150184 RCV001150185

NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)

SNV
Germline

Chr4:15567721

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864143

rs_753770061

2 SubmittersRCV000283981 RCV000338996 RCV000379534 RCV001421061

NM_001378615.1(CC2D2A):c.4438-9C>A

SNV
Germline

Chr4:15597398

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
not specified
Joubert syndrome 9
Meckel syndrome, type 6
Condition: not provided
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864387

rs_117667651

6 SubmittersRCV000233027 RCV000363082 RCV000267027 RCV000317484 RCV001576959 RCV004532860

NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)

SNV
Germline

Chr4:15597428

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 6
Joubert syndrome 9
not specified

Criteria Provided
Conflicting Classifications

CA2864389

rs_186486235

5 SubmittersRCV000229439 RCV000385807 RCV000318552 RCV000319463

NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)

SNV
Germline

Chr12:88055666

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

2 SubmittersRCV000226860 RCV001109948 RCV001109944 RCV001109946 RCV001109945 RCV001109947

NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711827

rs_371582975

4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415

NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)

SNV
Germline

Chr12:88107031

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712316

rs_764963626

7 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413

NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)

SNV
Germline

Chr16:53619079

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057257

rs_142317242

4 SubmittersRCV000232122 RCV000271829 RCV000302183 RCV000359252 RCV001271323 RCV004532945

NM_017777.4(MKS1):c.544G>A (p.Val182Ile)

SNV
Germline

Chr17:58214359

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Condition: not provided
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
not specified
Inborn genetic diseases
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669471

rs_200185068

9 SubmittersRCV000226628 RCV000765372 RCV000728102 RCV001122692 RCV001122693 RCV001820754 RCV002518354 RCV004532953

NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)

SNV
Germline

Chr8:93799758

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
Kidney disorder

Criteria Provided
Conflicting Classifications

CA4808233

rs_115563233

7 SubmittersRCV000234818 RCV000251115 RCV000723708 RCV001087450 RCV001163249 RCV001163248 RCV001163250 RCV002294093

NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)

SNV
Germline

Chr17:6607209

Pathogenic/Likely pathogenic

Orofaciodigital syndrome XV
not specified
Joubert syndrome 38
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10586689

rs_886038200

5 SubmittersRCV000241533 RCV000506654 RCV003225054 RCV002305473

NM_014804.3(KIAA0753):c.1546-3C>A

SNV
Germline

Chr17:6610163

Conflicting classifications of pathogenicity

Orofaciodigital syndrome XV
Condition: not provided
Joubert syndrome 38

Criteria Provided
Conflicting Classifications

CA10586690

rs_886038201

4 SubmittersRCV000241537 RCV002305474 RCV003225055

NM_017777.4(MKS1):c.1491-2A>G

SNV
Germline

Chr17:58206382

Pathogenic

Joubert syndrome 28

No Assertion Criteria Provided

CA10586693

rs_886038203

1 SubmittersRCV000241543

NM_017777.4(MKS1):c.1588+1G>T

SNV
Germline

Chr17:58206282

Pathogenic

Joubert syndrome 28

No Assertion Criteria Provided

CA10586694

rs_886038204

1 SubmittersRCV000241541

NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)

SNV
Germline

Chr2:201627334

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 14
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA2056327

rs_372686071

4 SubmittersRCV000243342 RCV000402180 RCV000986978

NM_001378615.1(CC2D2A):c.717+11T>C

SNV
Germline

Chr4:15511434

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 9
CC2D2A-related disorder
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863464

rs_184351317

3 SubmittersRCV000250811 RCV000308534 RCV000343514 RCV000396890 RCV002057438

NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)

SNV
Germline

Chr4:15514751

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2863492

rs_116198081

7 SubmittersRCV000252098 RCV000309540 RCV000396897 RCV000363031 RCV000860602 RCV001699269

NM_001378615.1(CC2D2A):c.4675-14T>A

SNV
Germline

Chr4:15601223

Conflicting classifications of pathogenicity

not specified
CC2D2A-related disorder
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864452

rs_766203266

3 SubmittersRCV000253082 RCV000284337 RCV000339066 RCV000398605 RCV002057437

NM_001378615.1(CC2D2A):c.*1T>A

SNV
Germline

Chr4:15601426

Conflicting classifications of pathogenicity

not specified
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2864494

rs_199945435

4 SubmittersRCV000251518 RCV000276457 RCV000371188 RCV000326813 RCV001548136

NM_001384732.1(CPLANE1):c.*18G>T

SNV
Germline

Chr5:37107584

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3237380

rs_200332492

2 SubmittersRCV000242809 RCV000311369

NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=)

SNV
Germline

Chr5:37153938

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3237849

rs_201122718

6 SubmittersRCV000250100 RCV000946041 RCV001153647

NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)

SNV
Germline

Chr5:37184866

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238710

rs_150556877

4 SubmittersRCV000245872 RCV000369776 RCV001568573

NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=)

SNV
Germline

Chr5:37201651

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238947

rs_141425550

4 SubmittersRCV000248280 RCV001158120 RCV001426492

NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=)

SNV
Germline

Chr5:37226840

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3239076

rs_186970259

7 SubmittersRCV000247286 RCV000405811 RCV000841691

NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)

SNV
Germline

Chr5:37226859

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3239077

rs_191239995

6 SubmittersRCV000252356 RCV000625261 RCV000646713

NM_001134831.2(AHI1):c.2492+15G>A

SNV
Germline

Chr6:135429867

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4012364

rs_535243555

3 SubmittersRCV000249134 RCV001157118 RCV002058268

NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)

SNV
Germline

Chr6:135429992

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012382

rs_191682790

4 SubmittersRCV000249053 RCV001462053 RCV001157121 RCV001705372

NM_018718.3(CEP41):c.786G>A (p.Pro262=)

SNV
Germline

Chr7:130400226

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 15

Criteria Provided
Conflicting Classifications

CA4485458

rs_782460743

4 SubmittersRCV000248519 RCV000261588 RCV001452020

NM_153704.6(TMEM67):c.120T>C (p.Ser40=)

SNV
Germline

Chr8:93755034

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4807518

rs_767999682

5 SubmittersRCV000244178 RCV000274744 RCV000332073 RCV000388990 RCV000636980 RCV001727663

NM_153704.6(TMEM67):c.869+9A>G

SNV
Germline

Chr8:93780756

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 6
Nephronophthisis 11
Meckel syndrome, type 3
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4807786

rs_372597584

5 SubmittersRCV000254485 RCV000304460 RCV000340533 RCV000405231 RCV000861716 RCV001727664

NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)

SNV
Germline

Chr8:93808848

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA10587012

rs_886038738

3 SubmittersRCV000247688 RCV000314366 RCV000344224 RCV000395284 RCV001455464

NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)

SNV
Germline

Chr8:93816416

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4808442

rs_115967793

4 SubmittersRCV000243894 RCV000549204 RCV001168637 RCV001168639 RCV001168638 RCV001651278

NM_016464.5(TMEM138):c.216C>T (p.Asn72=)

SNV
Germline

Chr11:61366132

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 16

Criteria Provided
Conflicting Classifications

CA6034559

rs_145939072

3 SubmittersRCV000246358 RCV001108034

NM_001173990.3(TMEM216):c.*21A>G

SNV
Germline

Chr11:61398297

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 2
Meckel syndrome, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6034791

rs_111371929

4 SubmittersRCV000251656 RCV000339313 RCV000377550 RCV001562156

NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)

SNV
Germline

Chr12:110619913

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 13
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6786519

rs_145478892

5 SubmittersRCV000250228 RCV000545652 RCV000403561 RCV001555631 RCV003165691

NM_024809.5(TCTN2):c.615C>A (p.Gly205=)

SNV
Germline

Chr12:123686886

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 24
Meckel syndrome, type 8
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6860944

rs_147485641

3 SubmittersRCV000253180 RCV001112865 RCV001112866 RCV001418301

NM_024809.5(TCTN2):c.1612+12C>T

SNV
Germline

Chr12:123699822

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 8
Joubert syndrome 24
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6861272

rs_117614122

4 SubmittersRCV000253797 RCV001111036 RCV001111037 RCV001515127

NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)

SNV
Germline

Chr12:88077777

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000402056 RCV000391752 RCV000514061 RCV001084053 RCV001828148

NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000270848 RCV000283968 RCV000328558 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282

NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)

SNV
Germline

Chr12:88118525

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA6712494

rs_561018129

3 SubmittersRCV000249364 RCV001241555 RCV001195819

NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)

SNV
Germline

Chr12:88118708

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001109701 RCV001109703 RCV001113718 RCV001113719 RCV001109702 RCV001572697 RCV001086907

NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001113799 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001275038 RCV001311004

NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)

SNV
Germline

Chr16:53611044

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057230

rs_138724933

8 SubmittersRCV000246270 RCV000296818 RCV000349270 RCV000399116 RCV000861085 RCV001271321 RCV001675738

NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)

SNV
Germline

Chr16:53619190

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8057277

rs_886038619

3 SubmittersRCV000249264 RCV001115542 RCV001115540 RCV001115541 RCV001317646

NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)

SNV
Germline

Chr16:53622339

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA8057298

rs_568801926

7 SubmittersRCV000247114 RCV000281675 RCV000349836 RCV000374184 RCV001729495 RCV002058259

NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)

SNV
Germline

Chr16:53645650

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057506

rs_775153934

4 SubmittersRCV000291093 RCV000343656 RCV000397052 RCV001436236 RCV001279151 RCV004529441

NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)

SNV
Germline

Chr16:53671541

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057932

rs_147295026

6 SubmittersRCV000249002 RCV000636972 RCV001115910 RCV001115908 RCV001115909 RCV001701904

NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)

SNV
Germline

Chr17:58208545

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Conflicting Classifications

CA8669296

rs_745809472

2 SubmittersRCV000243397 RCV000665282

NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)

SNV
Germline

Chr5:37198797

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA3238910

rs_149170427

4 SubmittersRCV000255984 RCV001004928 RCV004556055

NM_001082538.3(TCTN1):c.978+1G>T

SNV
Germline

Chr12:110640518

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA10588538

rs_886039436

2 SubmittersRCV000255837 RCV003989511

NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)

SNV
Germline

Chr3:94036664

Pathogenic/Likely pathogenic

Joubert syndrome and related disorders
Condition: not provided
Joubert syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA2504099

rs_764109067

4 SubmittersRCV000256476 RCV001092355 RCV001859504

NM_033402.5(LRRCC1):c.105-1G>C

SNV
Germline

Chr8:85109594

Pathogenic

Joubert syndrome and related disorders
Condition: not provided

Criteria Provided
Single Submitter

CA10588965

rs_886039794

2 SubmittersRCV000256435 RCV003989515

NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)

SNV
Germline

Chr8:93809830

Likely pathogenic

Joubert syndrome and related disorders

No Assertion Criteria Provided

CA10588966

rs_886039810

1 SubmittersRCV000256415

NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)

SNV
Germline

Chr12:88083848

Pathogenic

Joubert syndrome and related disorders

No Assertion Criteria Provided

CA10588971

rs_886039808

1 SubmittersRCV000256429

NM_001384732.1(CPLANE1):c.3673-1G>C

SNV
Germline

Chr5:37195997

Pathogenic/Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA10602924

rs_886041688

2 SubmittersRCV000259747 RCV002503976

NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)

SNV
Germline

Chr5:37226756

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Joubert syndrome 17
Orofaciodigital syndrome type 6
not specified

Criteria Provided
Conflicting Classifications

CA3239071

rs_533310477

6 SubmittersRCV001034653 RCV000985139 RCV000764606 RCV001844107

NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)

SNV
Germline

Chr7:130404568

Pathogenic

Condition: not provided
Joubert syndrome 15

Criteria Provided
Multiple Submitters
No Conflicts

CA4485584

rs_781848162

2 SubmittersRCV000356697 RCV002519041

NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)

SNV
Germline

Chr12:88114536

Pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Joubert syndrome 5
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734

NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)

SNV
Germline

Chr17:58207143

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 1
Joubert syndrome 28
not specified
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669161

rs_200865108

11 SubmittersRCV000280753 RCV001122598 RCV001003078 RCV001087577 RCV001128316 RCV001578757 RCV001820804 RCV004542971

NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)

SNV
Germline

Chr12:88125343

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
not specified
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Inborn genetic diseases
Leber congenital amaurosis
Condition: not provided
Kidney disorder
Retinitis pigmentosa
Stuve-Wiedemann syndrome 2

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

14 SubmittersRCV000280320 RCV000342452 RCV000320212 RCV000354111 RCV000396707 RCV000374721 RCV000637003 RCV000714822 RCV001265795 RCV001275039 RCV001580478 RCV002294212 RCV001589313 RCV003319345

NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)

SNV
Germline

Chr12:88106770

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy
Joubert syndrome 1
CEP290-related disorder
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

10 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV001380938

NM_017777.4(MKS1):c.118C>T (p.His40Tyr)

SNV
Germline

Chr17:58218692

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 1
not specified
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669639

rs_199832333

7 SubmittersRCV000724912 RCV000765374 RCV001062255 RCV001274930 RCV001820805 RCV004535260

NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)

SNV
Germline

Chr16:53645635

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057502

rs_61742381

8 SubmittersRCV000270094 RCV000861403 RCV001118693 RCV001118695 RCV001118694 RCV001699420 RCV004535264

NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113144 RCV001113143 RCV001114512 RCV001114513 RCV001697702

NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)

SNV
Germline

Chr4:15601371

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
CC2D2A-related disorder
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA2864483

rs_367841700

4 SubmittersRCV000261394 RCV000274749 RCV000330474 RCV000355466 RCV001085240

NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)

SNV
Germline

Chr4:15537955

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863778

rs_373296447

4 SubmittersRCV000298590 RCV000353425 RCV000346854 RCV001086981

NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)

SNV
Germline

Chr4:15580042

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
CC2D2A-related disorder
Meckel syndrome, type 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA2864242

rs_372292129

3 SubmittersRCV000298658 RCV000278967 RCV000338724 RCV000374700 RCV001087550

NM_015631.6(TCTN3):c.931C>T (p.Leu311=)

SNV
Germline

Chr10:95685594

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Conflicting Classifications

CA5621013

rs_774592467

2 SubmittersRCV000408104 RCV002059118

NM_015272.5(RPGRIP1L):c.3616+7A>G

SNV
Germline

Chr16:53619018

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057251

rs_373003699

6 SubmittersRCV000299256 RCV000725340 RCV001271322 RCV001088317 RCV001120151 RCV001120152 RCV001120153 RCV004543032

NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)

SNV
Germline

Chr16:53672937

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 5
Nephronophthisis 8
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
not specified
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057968

rs_183419371

9 SubmittersRCV000375576 RCV001117359 RCV001117358 RCV001241000 RCV001833330 RCV001117360 RCV002487213 RCV004017583 RCV004535307

NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)

SNV
Germline

Chr16:75556119

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Conflicting Classifications

CA8176305

rs_202215735

4 SubmittersRCV000443211 RCV001087198

NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)

SNV
Germline

Chr6:135457659

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Joubert syndrome 3
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012693

rs_139944375

6 SubmittersRCV000313832 RCV000357466 RCV001095106 RCV003930096

NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)

SNV
Germline

Chr4:15515958

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863530

rs_113371687

3 SubmittersRCV000377738 RCV001146978 RCV001146979 RCV001315399

NM_001174150.2(ARL13B):c.131-1G>T

SNV
Germline

Chr3:94003658

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10605194

rs_373604132

2 SubmittersRCV000390849 RCV001378018

NM_025114.4(CEP290):c.4437+1G>A

SNV
Germline

Chr12:88086038

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Condition: not provided
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571

NM_153704.6(TMEM67):c.369C>T (p.Ala123=)

SNV
Germline

Chr8:93758539

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis 11
Meckel syndrome, type 3
not specified
Joubert syndrome 6

Criteria Provided
Conflicting Classifications

CA4807607

rs_115640152

6 SubmittersRCV000384341 RCV001087787 RCV001163029 RCV001163030 RCV001699422 RCV001163031

NM_001128178.3(NPHP1):c.329+1G>A

SNV
Germline

Chr2:110178422

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA1827444

rs_376974221

5 SubmittersRCV000351846 RCV001859657 RCV002494861 RCV003469241 RCV003492029

NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)

SNV
Germline

Chr2:201626095

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 14
TMEM237-related disorder

Criteria Provided
Conflicting Classifications

CA2056302

rs_138509553

4 SubmittersRCV000290466 RCV001079934 RCV003920116

NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)

SNV
Germline

Chr6:135431287

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012402

rs_200017073

3 SubmittersRCV000366873 RCV001049633 RCV002502139

NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)

SNV
Germline

Chr16:53656489

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis
RPGRIP1L-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057737

rs_147366111

8 SubmittersRCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001243651 RCV002487244 RCV001271332 RCV004529473 RCV004021214

NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)

SNV
Germline

Chr2:110161604

Conflicting classifications of pathogenicity

Senior-Loken syndrome 1
Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis
Nephronophthisis 1
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827170

rs_140469160

6 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382

NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)

SNV
Germline

Chr3:94043047

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 8
ARL13B-related disorder

Criteria Provided
Conflicting Classifications

CA2504195

rs_139997243

5 SubmittersRCV000726050 RCV001082926 RCV003940043

NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)

SNV
Germline

Chr16:75556081

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11
TMEM231-related disorder

Criteria Provided
Conflicting Classifications

CA8176301

rs_377440297

5 SubmittersRCV000422994 RCV001078551 RCV003910004

NM_001384732.1(CPLANE1):c.1372-2A>G

SNV
Germline

Chr5:37227394

Pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA10605946

rs_886043786

2 SubmittersRCV000273995 RCV002480033

NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)

SNV
Germline

Chr2:110163104

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827217

rs_114250691

5 SubmittersRCV000363080 RCV001084490 RCV000765499 RCV004535410

NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)

SNV
Germline

Chr5:37243082

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3239172

rs_144969169

6 SubmittersRCV000338303 RCV001158242 RCV004021255

NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)

SNV
Germline

Chr4:15570479

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864205

rs_188891842

6 SubmittersRCV000263818 RCV000765761 RCV001081652 RCV002521992 RCV004543114

NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)

SNV
Germline

Chr4:15560553

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
CC2D2A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864042

rs_150093365

6 SubmittersRCV000321273 RCV000765759 RCV001087972 RCV004543116 RCV002518042

NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)

SNV
Germline

Chr4:15569374

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 9
Meckel syndrome, type 6
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864176

rs_771914973

7 SubmittersRCV000726221 RCV001079142 RCV001146759 RCV001146760 RCV004535415

NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)

SNV
Germline

Chr8:67112031

Pathogenic

Condition: not provided
Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA10606295

rs_886044058

3 SubmittersRCV000426028 RCV001859690

NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)

SNV
Germline

Chr16:53652877

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057696

rs_143863631

8 SubmittersRCV000264423 RCV000303891 RCV000361003 RCV000765294 RCV000726350 RCV001054615 RCV001833391 RCV002522007 RCV004543128

NM_025114.4(CEP290):c.6645+1G>A

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

Joubert syndrome 5
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Inborn genetic diseases
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

10 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606

NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)

SNV
Germline

Chr4:15540950

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863850

rs_778205727

5 SubmittersRCV000726483 RCV001145226 RCV001145225 RCV001087966 RCV004537612

NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)

SNV
Germline

Chr4:15537003

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases
Meckel-Gruber syndrome
Familial aplasia of the vermis
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863732

rs_201954181

6 SubmittersRCV000335348 RCV001149502 RCV001149503 RCV002487294 RCV002518166 RCV001248140 RCV004537623

NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)

SNV
Germline

Chr2:110123893

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Condition: not provided
Nephronophthisis 1
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1826844

rs_200631256

4 SubmittersRCV000310472 RCV000365164 RCV000401330 RCV000730798 RCV001094594 RCV004544604

NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)

SNV
Germline

Chr2:110143602

Conflicting classifications of pathogenicity

Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis
not specified
Nephronophthisis 1
Condition: not provided
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827002

rs_149887461

7 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 RCV004544605

NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)

SNV
Germline

Chr2:110169872

Conflicting classifications of pathogenicity

Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827390

rs_143163969

2 SubmittersRCV000267804 RCV000315824 RCV000378671 RCV001487646

NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)

SNV
Germline

Chr2:110163106

Conflicting classifications of pathogenicity

Senior-Loken syndrome 1
Nephronophthisis
Joubert syndrome with renal defect
Condition: not provided
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA1827219

rs_141763330

3 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593

NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)

SNV
Germline

Chr2:201629292

Conflicting classifications of pathogenicity

Joubert syndrome 14

Criteria Provided
Conflicting Classifications

CA2056390

rs_763452347

2 SubmittersRCV000351259

NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)

SNV
Germline

Chr2:208124196

Conflicting classifications of pathogenicity

Cataract 4 multiple types
Aculeiform cataract
Joubert syndrome 17
Condition: not provided
CRYGD-related disorder

Criteria Provided
Conflicting Classifications

CA2077717

rs_202233735

8 SubmittersRCV000414998 RCV000859322 RCV001258237 RCV001636930 RCV003983020

NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)

SNV
Germline

Chr3:93980453

Conflicting classifications of pathogenicity

Joubert syndrome 8
Condition: not provided
ARL13B-related disorder

Criteria Provided
Conflicting Classifications

CA2503724

rs_375770842

4 SubmittersRCV001052493 RCV003221946 RCV003902336

NM_001378615.1(CC2D2A):c.2486+9T>C

SNV
Germline

Chr4:15553314

Conflicting classifications of pathogenicity

CC2D2A-related disorder
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863933

rs_768382177

2 SubmittersRCV000312712 RCV000367359 RCV000397007 RCV003766006

NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)

SNV
Germline

Chr4:15557409

Conflicting classifications of pathogenicity

CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2863998

rs_368886216

3 SubmittersRCV000284136 RCV000320497 RCV000379227 RCV001315843 RCV001753820

NM_001378615.1(CC2D2A):c.3399-15T>C

SNV
Germline

Chr4:15569278

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864165

rs_181612746

2 SubmittersRCV000270539 RCV000306898 RCV000370091 RCV002057917

NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)

SNV
Germline

Chr3:94050833

Conflicting classifications of pathogenicity

Joubert syndrome 8
Condition: not provided
ARL13B-related disorder

Criteria Provided
Conflicting Classifications

CA2504290

rs_146264035

6 SubmittersRCV000764518 RCV001705515 RCV003912464

NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg)

SNV
Germline

Chr4:15538080

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA2863797

rs_201884883

2 SubmittersRCV000270412 RCV000379021 RCV001339478

NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)

SNV
Germline

Chr4:15540889

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
CC2D2A-related disorder
Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863839

rs_369476930

7 SubmittersRCV000298157 RCV000336743 RCV000394824 RCV000731265 RCV001038299 RCV002520210

NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)

SNV
Germline

Chr4:15559179

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864023

rs_182369056

4 SubmittersRCV000295725 RCV000513260 RCV000392515 RCV001083473

NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)

SNV
Germline

Chr4:15589567

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
Microcephaly
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864351

rs_143947747

4 SubmittersRCV000310019 RCV000364646 RCV000864851 RCV001252766 RCV004530405

NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln)

SNV
Germline

Chr3:94043223

Conflicting classifications of pathogenicity

Joubert syndrome 8

Criteria Provided
Conflicting Classifications

rs_550306731

2 SubmittersRCV002095811

NM_001378615.1(CC2D2A):c.-18-2673G>A

SNV
Germline

Chr4:15473242

Conflicting classifications of pathogenicity

Joubert syndrome 9
not specified
Meckel syndrome, type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10620305

rs_183968785

3 SubmittersRCV000299608 RCV000439648 RCV000394720 RCV002263625

NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)

SNV
Germline

Chr4:15538081

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
CC2D2A-related disorder
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA2863799

rs_756341605

3 SubmittersRCV000290488 RCV000325533 RCV000384920 RCV001417828

NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=)

SNV
Germline

Chr4:15538087

Conflicting classifications of pathogenicity

Joubert syndrome 9
CC2D2A-related disorder
Meckel syndrome, type 6
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863802

rs_550913315

3 SubmittersRCV000296541 RCV000350270 RCV000386075 RCV000732394 RCV002061242

NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=)

SNV
Germline

Chr4:15555111

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA10620314

rs_886059158

2 SubmittersRCV000272851 RCV000327991 RCV001850846

NM_001378615.1(CC2D2A):c.4675-12T>G

SNV
Germline

Chr4:15601225

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864453

rs_769761582

3 SubmittersRCV000303917 RCV000393734 RCV002520223 RCV004530406

NM_001378615.1(CC2D2A):c.541-5G>A

SNV
Germline

Chr4:15511242

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
CC2D2A-related disorder
Joubert syndrome 9
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA2863437

rs_369022150

4 SubmittersRCV000281651 RCV000336636 RCV000372448 RCV000730673 RCV001081912

NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)

SNV
Germline

Chr4:15528661

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA10620339

rs_886059136

2 SubmittersRCV000285415 RCV000345106 RCV000381087 RCV002520208

NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)

SNV
Germline

Chr4:15537043

Conflicting classifications of pathogenicity

CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA2863745

rs_376746356

4 SubmittersRCV000310945 RCV000352257 RCV000394900 RCV000727108 RCV001407251

NM_001378615.1(CC2D2A):c.3398+7A>G

SNV
Germline

Chr4:15567793

Conflicting classifications of pathogenicity

Joubert syndrome 9
CC2D2A-related disorder
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864155

rs_772784324

2 SubmittersRCV000300597 RCV000350341 RCV000407186 RCV001486582

NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)

SNV
Germline

Chr4:15587848

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA2864321

rs_557038070

2 SubmittersRCV000344976 RCV000407949 RCV001861227

NM_001384732.1(CPLANE1):c.7298T>C (p.Leu2433Pro)

SNV
Germline

Chr5:37167149

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238094

rs_372655878

3 SubmittersRCV000280605 RCV000425279

NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr)

SNV
Germline

Chr5:37231029

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10620362

rs_886060584

3 SubmittersRCV000280877 RCV001753827

NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)

SNV
Germline

Chr6:135290469

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4011958

rs_200368187

3 SubmittersRCV000310232 RCV001309958 RCV002523549

NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)

SNV
Germline

Chr6:135411525

Conflicting classifications of pathogenicity

Joubert syndrome 3
not specified
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4012263

rs_538724792

3 SubmittersRCV000263339 RCV001821082 RCV002058557

NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly)

SNV
Germline

Chr5:37138801

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3237691

rs_144427399

4 SubmittersRCV000325059 RCV001462609 RCV003972484

NM_001384732.1(CPLANE1):c.7588+8T>C

SNV
Germline

Chr5:37164265

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238017

rs_377295986

2 SubmittersRCV000273424 RCV002058530

NM_001384732.1(CPLANE1):c.6456C>T (p.Asn2152=)

SNV
Germline

Chr5:37170047

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238259

rs_186460995

2 SubmittersRCV000305738 RCV002058531

NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His)

SNV
Germline

Chr5:37180161

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3238499

rs_199524299

4 SubmittersRCV000386853 RCV000424907 RCV004021997

NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)

SNV
Germline

Chr5:37184963

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238727

rs_183021118

3 SubmittersRCV000366707 RCV000703873

NM_001384732.1(CPLANE1):c.3450C>T (p.Phe1150=)

SNV
Germline

Chr5:37201648

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238946

rs_200449169

2 SubmittersRCV000283740 RCV002058532

NM_001384732.1(CPLANE1):c.3090G>A (p.Thr1030=)

SNV
Germline

Chr5:37206256

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238997

rs_768564404

2 SubmittersRCV000392900 RCV002061284

NM_001384732.1(CPLANE1):c.1680G>A (p.Glu560=)

SNV
Germline

Chr5:37226915

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3239080

rs_749473632

2 SubmittersRCV000364768 RCV000918041

NM_001134831.2(AHI1):c.2765-9T>C

SNV
Germline

Chr6:135411553

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA10623025

rs_374852342

2 SubmittersRCV000316321 RCV001095063

NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)

SNV
Germline

Chr6:135490685

Conflicting classifications of pathogenicity

Joubert syndrome 3
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4012962

rs_201590073

3 SubmittersRCV000367907 RCV000998690 RCV001225876

NM_018718.3(CEP41):c.*593G>A

SNV
Germline

Chr7:130398298

Conflicting classifications of pathogenicity

Joubert syndrome 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4485310

rs_186685101

2 SubmittersRCV000347545 RCV003430933

NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)

SNV
Germline

Chr7:130399004

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 15
CEP41-related disorder

Criteria Provided
Conflicting Classifications

CA4485409

rs_147444165

5 SubmittersRCV000441831 RCV001087358 RCV003922589

NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)

SNV
Germline

Chr7:130399025

Conflicting classifications of pathogenicity

Joubert syndrome 15
Familial Autism Spectrum Disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4485413

rs_368525533

4 SubmittersRCV000354546 RCV001261664 RCV003430934

NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)

SNV
Germline

Chr7:130401907

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 15
Condition: not provided
Familial Autism Spectrum Disorder
CEP41-related disorder

Criteria Provided
Conflicting Classifications

CA4485523

rs_143303575

9 SubmittersRCV000483238 RCV000878420 RCV001702359 RCV001261666 RCV003922590

NM_001384732.1(CPLANE1):c.*518T>C

SNV
Germline

Chr5:37107084

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10624450

rs_556117030

2 SubmittersRCV000284338 RCV003430911

NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)

SNV
Germline

Chr5:37138834

Conflicting classifications of pathogenicity

Joubert syndrome 17
Joubert syndrome 17
Orofaciodigital syndrome type 6
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3237697

rs_147426388

6 SubmittersRCV000382022 RCV000646708 RCV002307488 RCV003343795 RCV000419680

NM_001384732.1(CPLANE1):c.8514T>C (p.Thr2838=)

SNV
Germline

Chr5:37142428

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3237760

rs_760623510

2 SubmittersRCV000297474 RCV002523521

NM_001384732.1(CPLANE1):c.7099A>G (p.Lys2367Glu)

SNV
Germline

Chr5:37168925

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238140

rs_778278672

2 SubmittersRCV000404414 RCV000914220

NM_001384732.1(CPLANE1):c.9263A>G (p.His3088Arg)

SNV
Germline

Chr5:37120263

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3237520

rs_547370426

2 SubmittersRCV000353311 RCV002061282

NM_001384732.1(CPLANE1):c.9252G>A (p.Pro3084=)

SNV
Germline

Chr5:37120274

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3237522

rs_371595122

2 SubmittersRCV000260779 RCV000926619

NM_001384732.1(CPLANE1):c.9093A>G (p.Ser3031=)

SNV
Germline

Chr5:37121709

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3237567

rs_141014620

4 SubmittersRCV000356553 RCV000535974

NM_001384732.1(CPLANE1):c.7596A>G (p.Leu2532=)

SNV
Germline

Chr5:37162559

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3237996

rs_201502145

3 SubmittersRCV000384307 RCV000923632

NM_001384732.1(CPLANE1):c.4954C>T (p.Leu1652=)

SNV
Germline

Chr5:37183227

Conflicting classifications of pathogenicity

Joubert syndrome 17
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238627

rs_141109938

4 SubmittersRCV000300108 RCV000603438 RCV001311645

NM_001384732.1(CPLANE1):c.1872C>T (p.Ser624=)

SNV
Germline

Chr5:37226723

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10624691

rs_886060582

3 SubmittersRCV000313383 RCV000926063

NM_001384732.1(CPLANE1):c.1116G>A (p.Thr372=)

SNV
Germline

Chr5:37230872

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3239134

rs_551066377

3 SubmittersRCV000376678 RCV000902156 RCV003932450

NM_001384732.1(CPLANE1):c.626A>G (p.Lys209Arg)

SNV
Germline

Chr5:37243064

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3239171

rs_770630520

3 SubmittersRCV000350861 RCV002061285 RCV004021998

NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)

SNV
Germline

Chr6:135411495

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4012259

rs_775305093

2 SubmittersRCV000355866 RCV003597974

NM_001134831.2(AHI1):c.282G>A (p.Thr94=)

SNV
Germline

Chr6:135466281

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4012856

rs_760858792

2 SubmittersRCV000331656 RCV001464785

NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)

SNV
Germline

Chr8:93816392

Conflicting classifications of pathogenicity

Joubert syndrome 6
Nephronophthisis 11
Meckel syndrome, type 3
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4808435

rs_369812327

2 SubmittersRCV000293650 RCV000390789 RCV000348602 RCV002058749

NM_001134831.2(AHI1):c.3486-4A>G

SNV
Germline

Chr6:135290529

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4011968

rs_534053819

2 SubmittersRCV000362625 RCV001462127

NM_001134831.2(AHI1):c.1788T>C (p.Arg596=)

SNV
Germline

Chr6:135442706

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4012505

rs_548478362

2 SubmittersRCV000346082 RCV001850882

NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)

SNV
Germline

Chr6:135447107

Conflicting classifications of pathogenicity

Joubert syndrome 3
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4012546

rs_200949030

4 SubmittersRCV000301551 RCV000592685 RCV001514341

NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)

SNV
Germline

Chr9:136430349

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Condition: not provided
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336675

rs_147967974

4 SubmittersRCV000302693 RCV000489191 RCV001095320

NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)

SNV
Germline

Chr9:136432486

Conflicting classifications of pathogenicity

Joubert syndrome 1
not specified
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA5336833

rs_145543466

3 SubmittersRCV000292228 RCV000599895 RCV002058786

NM_019892.6(INPP5E):c.1279+14T>C

SNV
Germline

Chr9:136432942

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA10626893

rs_886063711

2 SubmittersRCV000343852 RCV002523761

NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)

SNV
Germline

Chr9:136433178

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA5336941

rs_200518324

2 SubmittersRCV000303395 RCV001408981

NM_019892.6(INPP5E):c.1104C>T (p.His368=)

SNV
Germline

Chr9:136433210

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5336950

rs_148592275

3 SubmittersRCV000337294 RCV002058787 RCV004530482

NM_019892.6(INPP5E):c.21T>C (p.Asn7=)

SNV
Germline

Chr9:136439399

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Condition: not provided
Joubert syndrome 1
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5337213

rs_571588033

4 SubmittersRCV000282860 RCV001707685 RCV001095346 RCV004544714

NM_016464.5(TMEM138):c.420A>G (p.Arg140=)

SNV
Germline

Chr11:61368640

Conflicting classifications of pathogenicity

Joubert syndrome 16

Criteria Provided
Conflicting Classifications

CA6034654

rs_548368196

2 SubmittersRCV000336607

NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)

SNV
Germline

Chr11:61368702

Conflicting classifications of pathogenicity

Joubert syndrome 16

Criteria Provided
Conflicting Classifications

CA6034671

rs_569659022

2 SubmittersRCV000407594

NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)

SNV
Germline

Chr8:93787877

Conflicting classifications of pathogenicity

Nephronophthisis 11
Meckel syndrome, type 3
Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4807976

rs_774288177

2 SubmittersRCV000270206 RCV000306665 RCV000370373 RCV000872573

NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)

SNV
Germline

Chr8:93787942

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Joubert syndrome 6
Nephronophthisis 11
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4807990

rs_114655330

3 SubmittersRCV000275749 RCV000330820 RCV000366747 RCV002058748 RCV002523705

NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=)

SNV
Germline

Chr12:110641032

Conflicting classifications of pathogenicity

Joubert syndrome 13
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6786785

rs_371066430

2 SubmittersRCV000384153 RCV001444758

NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg)

SNV
Germline

Chr12:123688062

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6861006

rs_151318349

3 SubmittersRCV000315177 RCV000367468 RCV000636951 RCV004021534

NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)

SNV
Germline

Chr9:136431966

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA5336801

rs_377483407

2 SubmittersRCV000353915 RCV002058785

NM_019892.6(INPP5E):c.1388-5C>T

SNV
Germline

Chr9:136431990

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5336810

rs_187956407

3 SubmittersRCV000260443 RCV001476344 RCV004530480

NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)

SNV
Germline

Chr9:136430336

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
not specified
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336672

rs_368026621

3 SubmittersRCV000391284 RCV000436637 RCV001095319

NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)

SNV
Germline

Chr9:136431867

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5336769

rs_74880446

6 SubmittersRCV000320108 RCV001095322 RCV001718790

NM_019892.6(INPP5E):c.813-8C>T

SNV
Germline

Chr9:136434871

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5337062

rs_373176644

3 SubmittersRCV000369602 RCV001095323 RCV001712166

NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Kidney disorder
Leber congenital amaurosis
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001085312 RCV002294263 RCV001273074 RCV003888722 RCV004537751

NM_025114.4(CEP290):c.1549T>C (p.Leu517=)

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000299546 RCV000335728 RCV000398619 RCV000305920 RCV000728042 RCV001079199 RCV000360538

NM_025114.4(CEP290):c.-41C>T

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000330322 RCV000338378 RCV000372028 RCV000387258 RCV000422198 RCV004537755

NM_016464.5(TMEM138):c.327C>T (p.Ser109=)

SNV
Germline

Chr11:61367949

Conflicting classifications of pathogenicity

Joubert syndrome 16
Condition: not provided
TMEM138-related disorder

Criteria Provided
Conflicting Classifications

CA6034593

rs_201318247

4 SubmittersRCV000951552 RCV001566151 RCV003967876

NM_001173990.2(TMEM216):c.-135T>C

SNV
Germline

Chr11:61392497

Conflicting classifications of pathogenicity

Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Conflicting Classifications

CA10635095

rs_183785901

1 SubmittersRCV000309701 RCV000359657

NM_001173990.2(TMEM216):c.-91G>A

SNV
Germline

Chr11:61392541

Conflicting classifications of pathogenicity

Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Conflicting Classifications

CA10635101

rs_557559653

1 SubmittersRCV000261060 RCV000360401

NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)

SNV
Germline

Chr11:61397902

Conflicting classifications of pathogenicity

Meckel syndrome, type 2
Joubert syndrome 2
not specified
Inborn genetic diseases
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6034753

rs_200289511

5 SubmittersRCV000273916 RCV001093978 RCV000734945 RCV002520731 RCV000368499

NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)

SNV
Germline

Chr12:110640499

Conflicting classifications of pathogenicity

Joubert syndrome 13
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
TCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA6786777

rs_145970332

4 SubmittersRCV000324937 RCV000544455 RCV001705459 RCV003910132

NM_024809.5(TCTN2):c.564+3A>C

SNV
Germline

Chr12:123679292

Conflicting classifications of pathogenicity

Meckel syndrome, type 8
Condition: not provided
Joubert syndrome 24
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6860918

rs_761089886

3 SubmittersRCV000276829 RCV001568585 RCV000371384 RCV000863392

NM_024809.5(TCTN2):c.588G>A (p.Thr196=)

SNV
Germline

Chr12:123686859

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Meckel-Gruber syndrome
Familial aplasia of the vermis
TCTN2-related disorder

Criteria Provided
Conflicting Classifications

CA6860938

rs_201545344

3 SubmittersRCV000292077 RCV000328307 RCV000868939 RCV004537732

NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)

SNV
Germline

Chr16:53602142

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057127

rs_759935029

4 SubmittersRCV000260137 RCV000324659 RCV000379320 RCV000996270 RCV001413863 RCV004544574

NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)

SNV
Germline

Chr16:53645743

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA10637956

rs_886052096

2 SubmittersRCV000313265 RCV000371312 RCV000401665 RCV002056498

NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)

SNV
Germline

Chr12:88049259

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747

NM_025114.4(CEP290):c.7209+7T>G

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Condition: not provided
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000283328 RCV000322071 RCV000270876 RCV000380635 RCV000729391 RCV000323734 RCV001409432

NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
not specified
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

3 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200

NM_025114.4(CEP290):c.3574-15T>A

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000272452 RCV000321121 RCV000324529 RCV000267083 RCV000378166 RCV001513375

NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Condition: not provided
Microcephaly
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

6 SubmittersRCV000310425 RCV000307295 RCV000365084 RCV000371328 RCV000400672 RCV001562789 RCV001252733 RCV000861492 RCV002467728 RCV003888723

NM_025114.4(CEP290):c.54G>A (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000382505 RCV000386249 RCV001421212 RCV000352716

NM_001173990.3(TMEM216):c.-24C>T

SNV
Germline

Chr11:61392608

Conflicting classifications of pathogenicity

Joubert syndrome 2
Meckel syndrome, type 2
not specified
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

CA6034687

rs_59493015

3 SubmittersRCV000281341 RCV000331705 RCV000444282 RCV004537720

NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)

SNV
Germline

Chr11:61397964

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel syndrome, type 2
Condition: not provided
Joubert syndrome 2

Criteria Provided
Conflicting Classifications

CA6034764

rs_749351351

4 SubmittersRCV000333645 RCV000388251 RCV000731810 RCV001093992

NM_024809.5(TCTN2):c.888G>A (p.Pro296=)

SNV
Germline

Chr12:123688174

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6861020

rs_116845100

3 SubmittersRCV000280902 RCV000377494 RCV000860662 RCV001590928

NM_024809.5(TCTN2):c.1848C>T (p.Ser616=)

SNV
Germline

Chr12:123706804

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6861359

rs_201834126

2 SubmittersRCV000259923 RCV000375557 RCV002056275

NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)

SNV
Germline

Chr12:123672067

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Meckel-Gruber syndrome
Familial aplasia of the vermis
Inborn genetic diseases
TCTN2-related disorder

Criteria Provided
Conflicting Classifications

CA6860821

rs_137939978

4 SubmittersRCV000304625 RCV000401475 RCV001859838 RCV002520792 RCV004537731

NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala)

SNV
Germline

Chr12:123686842

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6860932

rs_146698907

3 SubmittersRCV000331654 RCV000386181 RCV000521173 RCV001440263

NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser)

SNV
Germline

Chr12:123686906

Conflicting classifications of pathogenicity

Meckel syndrome, type 8
Joubert syndrome 24
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6860949

rs_139927033

3 SubmittersRCV000286383 RCV000380785 RCV000530401 RCV001697750

NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721

NM_025114.4(CEP290):c.5709+12A>G

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336

NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
not specified
Leber congenital amaurosis
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

4 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001273072 RCV001347081

NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)

SNV
Germline

Chr12:88089271

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Inborn genetic diseases
Retinitis pigmentosa
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

10 SubmittersRCV000276434 RCV000289191 RCV000333827 RCV000327895 RCV000381363 RCV000557002 RCV001074452 RCV001555535 RCV001273076 RCV002520840 RCV001590930 RCV004544543

NM_025114.4(CEP290):c.2616G>A (p.Ser872=)

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544

NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV002461069 RCV000860718 RCV001833458 RCV002467729

NM_025114.4(CEP290):c.-33G>T

SNV
Germline

Chr12:88141905

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV000402356 RCV001642965

NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)

SNV
Germline

Chr12:88086400

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749

NM_025114.4(CEP290):c.1623+10G>T

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000272744 RCV000287480 RCV000376587 RCV000382304 RCV000981128 RCV000327713

NM_025114.4(CEP290):c.503G>A (p.Arg168His)

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Retinitis pigmentosa
Leber congenital amaurosis
not specified
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

7 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752

NM_025114.4(CEP290):c.-38G>C

SNV
Germline

Chr12:88141910

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA10643431

rs_886049886

2 SubmittersRCV000269659 RCV000277677 RCV000326938 RCV000366586 RCV000388544 RCV004537754

NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)

SNV
Germline

Chr16:53602185

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057138

rs_377402117

5 SubmittersRCV000284914 RCV000321256 RCV000385189 RCV002504091 RCV000820913 RCV001276306 RCV003278765

NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)

SNV
Germline

Chr16:53637736

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057349

rs_371616177

2 SubmittersRCV000304399 RCV000334324 RCV000400874 RCV004021662

NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)

SNV
Germline

Chr16:53692151

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
RPGRIP1L-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8058122

rs_202149647

5 SubmittersRCV000260324 RCV000320204 RCV000374585 RCV000867235 RCV001273899 RCV004537803 RCV003992277

NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)

SNV
Germline

Chr16:53692292

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA8058137

rs_182207372

3 SubmittersRCV000285017 RCV000339982 RCV000380550 RCV000867344 RCV001273900

NM_017777.4(MKS1):c.80+14C>G

SNV
Germline

Chr17:58219137

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA10646204

rs_761061379

3 SubmittersRCV000297157 RCV000407075 RCV000670260 RCV002522992

NM_015272.5(RPGRIP1L):c.*1584G>T

SNV
Germline

Chr16:53600492

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647702

rs_151226475

2 SubmittersRCV000260902 RCV000316080 RCV000379947 RCV003422270

NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)

SNV
Germline

Chr16:53652727

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA8057665

rs_141979202

3 SubmittersRCV000300536 RCV000352999 RCV000402360 RCV000467631 RCV001271328

NM_015272.5(RPGRIP1L):c.*1627G>A

SNV
Germline

Chr16:53600449

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10648543

rs_188203905

2 SubmittersRCV000273866 RCV000300937 RCV000355217 RCV003422269

NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)

SNV
Germline

Chr16:53645626

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057500

rs_141608712

7 SubmittersRCV000283664 RCV000341038 RCV000380415 RCV001243917 RCV001271326 RCV000996271

NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)

SNV
Germline

Chr16:53671528

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057930

rs_144023021

6 SubmittersRCV000272277 RCV000308698 RCV000362256 RCV001828320 RCV001239253 RCV002487410 RCV004021665 RCV004537802

NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)

SNV
Germline

Chr16:53692344

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058159

rs_151212590

7 SubmittersRCV000310412 RCV000346684 RCV000398312 RCV000765298 RCV000464407 RCV001562186 RCV001828321 RCV004537804

NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)

SNV
Germline

Chr16:53696210

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA8058197

rs_146925098

6 SubmittersRCV000262935 RCV000298218 RCV000353091 RCV000489212 RCV001081628

NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr14:58444158

Pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

CA10654767

rs_1057516038

1 SubmittersRCV000408631

NM_001173990.3(TMEM216):c.34+2T>C

SNV
Germline

Chr11:61392667

Likely pathogenic

Meckel syndrome, type 2
Joubert syndrome 2
Familial aplasia of the vermis
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16041469

rs_1057517498

4 SubmittersRCV000409881 RCV000411402 RCV001053497 RCV002502435

NM_001173990.3(TMEM216):c.35-2A>G

SNV
Germline

Chr11:61393229

Likely pathogenic

Meckel syndrome, type 2
Joubert syndrome 2
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA16041470

rs_1057517528

3 SubmittersRCV000409368 RCV000410496 RCV002524628

NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)

SNV
Germline

Chr2:201639028

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 14

Criteria Provided
Conflicting Classifications

CA2056583

rs_200714434

3 SubmittersRCV000413936 RCV000945894

NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)

SNV
Germline

Chr12:88102888

Pathogenic/Likely pathogenic

Central hypotonia
Molar tooth sign on MRI
Nystagmus
Blindness
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA16043473

rs_1057518822

3 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364

NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)

SNV
Germline

Chr7:1445219

Pathogenic

Joubert syndrome 1

No Assertion Criteria Provided

CA16044225

rs_556808514

1 SubmittersRCV000416431

NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)

SNV
Germline

Chr9:136432563

Pathogenic

Joubert syndrome and related disorders
Familial aplasia of the vermis
Joubert syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5336846

rs_756789619

3 SubmittersRCV000416989 RCV001861469 RCV003989529

NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Leber congenital amaurosis
Intellectual disability
Joubert syndrome 5
Meckel syndrome, type 4
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

7 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001110658 RCV001109869 RCV001275045 RCV001252443 RCV001109866 RCV001109867 RCV004530521

NM_001321218.2(B9D1):c.473-1G>C

SNV
Germline

Chr17:19337749

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 27
B9D1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8440035

rs_73980009

5 SubmittersRCV000428981 RCV001291732 RCV004555575 RCV004017610

NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV000417476 RCV000765111 RCV001245037 RCV001276484 RCV003889881

NM_001044385.3(TMEM237):c.869+10A>G

SNV
Germline

Chr2:201629220

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 14

Criteria Provided
Conflicting Classifications

CA2056380

rs_376868416

3 SubmittersRCV000436787 RCV001136549

NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)

SNV
Germline

Chr4:15563475

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864082

rs_371608031

3 SubmittersRCV000442925 RCV000765760 RCV001402263

NM_001174150.2(ARL13B):c.690-5G>A

SNV
Germline

Chr3:94039875

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2504137

rs_373173586

4 SubmittersRCV000437663 RCV000866802 RCV003437169

NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)

SNV
Germline

Chr4:15502865

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA2863395

rs_748886997

3 SubmittersRCV000424373 RCV001147863 RCV001147864 RCV002063654

NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg)

SNV
Germline

Chr5:37108418

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3237441

rs_144081297

7 SubmittersRCV000514597 RCV001153529 RCV003409599

NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)

SNV
Germline

Chr6:135394852

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012185

rs_372030704

3 SubmittersRCV000433769 RCV000863967 RCV001154601

NM_001134831.2(AHI1):c.1533T>G (p.Val511=)

SNV
Germline

Chr6:135448383

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012570

rs_373669500

4 SubmittersRCV000429239 RCV000468650 RCV002488945

NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)

SNV
Germline

Chr6:135466163

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012837

rs_368077581

3 SubmittersRCV000427341 RCV000527501 RCV001151771

NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)

SNV
Germline

Chr5:37227669

Pathogenic/Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17
Joubert syndrome 17
Joubert syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA3239117

rs_755097302

5 SubmittersRCV000438829 RCV000694430 RCV003147459 RCV001729596

NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)

SNV
Germline

Chr6:135290508

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Joubert syndrome 3
Intellectual disability
Condition: not provided
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4011964

rs_199578341

8 SubmittersRCV000445026 RCV000701724 RCV000764640 RCV001252129 RCV003431002 RCV003932665

NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)

SNV
Germline

Chr6:135323294

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 1
Familial aplasia of the vermis
Retinal dystrophy
Rod-cone dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4012074

rs_780163791

7 SubmittersRCV000424420 RCV000987784 RCV001047025 RCV001075600 RCV001376231 RCV003114537

NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=)

SNV
Germline

Chr5:37108458

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3237449

rs_377707922

5 SubmittersRCV000425265 RCV000899396 RCV001153530 RCV003942431

NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)

SNV
Germline

Chr8:67113835

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 21

Criteria Provided
Conflicting Classifications

CA4770490

rs_752326108

3 SubmittersRCV000440201 RCV001407852

NM_153704.6(TMEM67):c.2848G>A (p.Val950Met)

SNV
Germline

Chr8:93815388

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 6
not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA4808413

rs_771551765

4 SubmittersRCV000429127 RCV000984518 RCV002248661 RCV001851095

NM_018718.3(CEP41):c.422+7G>A

SNV
Germline

Chr7:130404557

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 15
CEP41-related disorder

Criteria Provided
Conflicting Classifications

CA4485581

rs_190680511

5 SubmittersRCV000419652 RCV000514531 RCV001412142 RCV003932671

NM_018718.3(CEP41):c.278-15A>T

SNV
Germline

Chr7:130404723

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 15

Criteria Provided
Conflicting Classifications

CA4485611

rs_142452124

5 SubmittersRCV000437175 RCV001158769

NM_025114.4(CEP290):c.1360-4T>G

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

4 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886

NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)

SNV
Germline

Chr14:58453473

Likely pathogenic

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA16607000

rs_772739103

2 SubmittersRCV000418597 RCV002521677

NM_015272.5(RPGRIP1L):c.3220+13T>C

SNV
Germline

Chr16:53637682

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057344

rs_376659273

4 SubmittersRCV000438977 RCV001120235 RCV001120236 RCV001120237 RCV002522503 RCV004533096

NM_001077418.3(TMEM231):c.582+6A>G

SNV
Germline

Chr16:75545346

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 20
Meckel syndrome, type 11
TMEM231-related disorder

Criteria Provided
Conflicting Classifications

CA8176145

rs_376300743

3 SubmittersRCV000434172 RCV001337255 RCV003902495

NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)

SNV
Germline

Chr16:75545352

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Conflicting Classifications

CA8176149

rs_199776253

2 SubmittersRCV001703554 RCV001365771

NM_025114.4(CEP290):c.1729C>T (p.Leu577=)

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899

NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)

SNV
Germline

Chr16:75556203

Conflicting classifications of pathogenicity

Joubert syndrome 20
Meckel syndrome, type 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8176321

rs_371709760

3 SubmittersRCV000952419 RCV001703597 RCV002524875

NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr4:15527564

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2863622

rs_757208121

2 SubmittersRCV000456449 RCV000987416

NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)

SNV
Germline

Chr10:102509261

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Gorlin syndrome
Medulloblastoma
Joubert syndrome 32
Familial meningioma
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667641

rs_746322193

6 SubmittersRCV000476504 RCV000763640 RCV001016523 RCV001293037 RCV003105911 RCV004567970

NM_016169.4(SUFU):c.1023-2A>T

SNV
Germline

Chr10:102615266

Likely pathogenic

Gorlin syndrome
Medulloblastoma
Basal cell nevus syndrome 2
Joubert syndrome 32

Criteria Provided
Multiple Submitters
No Conflicts

CA16612826

rs_1060501105

2 SubmittersRCV000472343 RCV003448312

NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)

SNV
Germline

Chr10:102615303

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome
Gorlin syndrome
Joubert syndrome 32
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667865

rs_137880855

7 SubmittersRCV000464552 RCV001017160 RCV002480368 RCV003333747 RCV003483616 RCV003463873

NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)

SNV
Germline

Chr4:15580065

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864250

rs_200427832

5 SubmittersRCV000726978 RCV000765762 RCV001081324 RCV004535520

NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)

SNV
Germline

Chr4:15601291

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864468

rs_199695154

6 SubmittersRCV000479727 RCV001053315 RCV002496867 RCV002525868 RCV004541523

NM_001382391.1(CSPP1):c.3110-1G>A

SNV
Germline

Chr8:67177679

Likely pathogenic

Condition: not provided
Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA16618689

rs_1064795687

2 SubmittersRCV000483022 RCV003583161

NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)

SNV
Germline

Chr10:95680525

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 18
Orofacial-digital syndrome IV
TCTN3-related disorder

Criteria Provided
Conflicting Classifications

CA5620803

rs_755942179

3 SubmittersRCV000481457 RCV001856873 RCV004535529

NM_025114.4(CEP290):c.4705-1G>T

SNV
Germline

Chr12:88083955

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711875

rs_777464278

5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV003470556 RCV004527588

NM_001329943.3(KIAA0586):c.-29A>C

SNV
Germline

Chr14:58428236

Likely pathogenic

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA7205233

rs_752709426

2 SubmittersRCV000481842 RCV001851264

NM_001329943.3(KIAA0586):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr14:58444155

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 23

Criteria Provided
Multiple Submitters
No Conflicts

CA16619878

rs_985118235

2 SubmittersRCV000479792 RCV003983092

NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter)

SNV
Germline

Chr14:58467833

Pathogenic

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA16619879

rs_1064793157

2 SubmittersRCV000484352 RCV001215185

NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)

SNV
Germline

Chr16:53649068

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome and related disorders
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA8057601

rs_751128300

4 SubmittersRCV000484741 RCV000697158 RCV002509406 RCV002526604

NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)

SNV
Germline

Chr16:53656511

Conflicting classifications of pathogenicity

COACH syndrome 1
Joubert syndrome 7
Meckel syndrome, type 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057740

rs_79524027

4 SubmittersRCV000765296 RCV000862031 RCV001696865 RCV004535531

NM_004311.4(ARL3):c.446G>A (p.Arg149His)

SNV
Germline

Chr10:102685871

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 35

Criteria Provided
Conflicting Classifications

CA5668428

rs_770782663

3 SubmittersRCV000487659 RCV000714512

NM_001382391.1(CSPP1):c.1828-4C>A

SNV
Germline

Chr8:67137452

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 21

Criteria Provided
Conflicting Classifications

CA16621867

rs_1064797347

2 SubmittersRCV000488123 RCV003743750

NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter)

SNV
Germline

Chr5:37180021

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA3238472

rs_770770257

1 SubmittersRCV000599682

NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)

SNV
Germline

Chr5:37182833

Pathogenic/Likely pathogenic

Joubert syndrome 17
Condition: not provided
Inborn genetic diseases
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA3238567

rs_200444162

5 SubmittersRCV000611750 RCV001226490 RCV004023274 RCV002475966

NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly)

SNV
Germline

Chr5:37183538

Likely pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA359497381

rs_759649053

1 SubmittersRCV000605589

NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)

SNV
Germline

Chr2:231214858

Conflicting classifications of pathogenicity

ARMC9-related Joubert syndrome
Joubert syndrome 30
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2159877

rs_750247691

5 SubmittersRCV000491981 RCV000515488 RCV001034532 RCV001362306

NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)

SNV
Germline

Chr2:231214912

Pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Single Submitter

CA66816524

rs_372770167

4 SubmittersRCV000490944 RCV000515482 RCV001034534 RCV003558397

NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)

SNV
Germline

Chr2:231262306

Pathogenic/Likely pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
Familial aplasia of the vermis
Condition: not provided
Dandy-Walker syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2160165

rs_759799287

7 SubmittersRCV000491717 RCV000515505 RCV001034537 RCV001038181 RCV001257947

NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys)

SNV
Germline

Chr2:231276637

Pathogenic/Likely pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
Familial aplasia of the vermis

No Assertion Criteria Provided

CA2160301

rs_753432312

3 SubmittersRCV000490882 RCV000515503 RCV001034533

NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)

SNV
Germline

Chr2:231276775

Likely pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
Familial aplasia of the vermis
Dandy-Walker syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA2160329

rs_780265931

4 SubmittersRCV000491687 RCV000515496 RCV001034540 RCV001257948 RCV002527047

NM_001352754.2(ARMC9):c.1474+1G>C

SNV
Germline

Chr2:231276776

Pathogenic/Likely pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
Familial aplasia of the vermis

No Assertion Criteria Provided

CA350955992

rs_1114167448

3 SubmittersRCV000491387 RCV000515484 RCV001034539

NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu)

SNV
Germline

Chr2:231282066

Pathogenic/Likely pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
Familial aplasia of the vermis

No Assertion Criteria Provided

CA350957057

rs_1114167449

3 SubmittersRCV000490913 RCV000515485 RCV001034541

NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)

SNV
Germline

Chr5:37195993

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA3238873

rs_749421099

3 SubmittersRCV000493929 RCV003987565

NM_025114.4(CEP290):c.4813-2A>G

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy
Leber congenital amaurosis
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

11 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071

NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)

SNV
Germline

Chr8:67154115

Pathogenic/Likely pathogenic

Joubert syndrome 21
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371188037

rs_1402669959

3 SubmittersRCV000503871 RCV001778979

NM_001077418.3(TMEM231):c.664+4A>G

SNV
Germline

Chr16:75542598

Conflicting classifications of pathogenicity

Meckel syndrome, type 11
Joubert syndrome 20
Meckel syndrome, type 11
Joubert syndrome and related disorders
Joubert syndrome 20
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8176100

rs_760426025

5 SubmittersRCV000503497 RCV000650603 RCV003492085 RCV003989544 RCV003129877

NM_001077418.3(TMEM231):c.438+1G>A

SNV
Germline

Chr16:75545825

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Multiple Submitters
No Conflicts

CA396806904

rs_1415483600

2 SubmittersRCV000499980 RCV001857177

NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr16:53696263

Pathogenic

Joubert syndrome 7

No Assertion Criteria Provided

CA395926047

rs_1555616593

1 SubmittersRCV000505609

NM_025114.4(CEP290):c.1066-1G>A

SNV
Germline

Chr12:88125370

Pathogenic

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

4 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093

NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)

SNV
Germline

Chr6:135465910

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Joubert syndrome 3
not specified
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012791

rs_183936286

5 SubmittersRCV000514800 RCV001088814 RCV001157234 RCV002222540 RCV003915428

NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)

SNV
Germline

Chr16:75555872

Conflicting classifications of pathogenicity

Condition: not provided
Ciliopathy
Joubert syndrome 20
Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Conflicting Classifications

CA8176255

rs_376555896

4 SubmittersRCV000515034 RCV001003228 RCV001865689 RCV003222011

NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)

SNV
Germline

Chr5:37169512

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238229

rs_377742483

4 SubmittersRCV000513844 RCV001175513 RCV001334171

NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg)

SNV
Germline

Chr8:67076486

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 21
CSPP1-related disorder

Criteria Provided
Conflicting Classifications

CA4770140

rs_200158932

4 SubmittersRCV000513710 RCV001083166 RCV003935358

NM_001375405.1(CEP120):c.581T>C (p.Val194Ala)

SNV
Germline

Chr5:123399167

Pathogenic

Joubert syndrome 31

No Assertion Criteria Provided

CA360893331

rs_1554104276

1 SubmittersRCV000515139

NM_001375405.1(CEP120):c.2177T>C (p.Leu726Pro)

SNV
Germline

Chr5:123378355

Pathogenic

Joubert syndrome 31

No Assertion Criteria Provided

CA360898838

rs_1554102026

1 SubmittersRCV000515151

NM_001375405.1(CEP120):c.1646C>T (p.Ala549Val)

SNV
Germline

Chr5:123385068

Likely pathogenic

Joubert syndrome 31
Condition: not provided

Criteria Provided
Single Submitter

CA3386908

rs_775080726

2 SubmittersRCV000515145 RCV001268429

NM_016169.4(SUFU):c.527A>G (p.His176Arg)

SNV
Germline

Chr10:102592654

Pathogenic

Joubert syndrome 32

No Assertion Criteria Provided

CA377908386

rs_1554852272

1 SubmittersRCV000515250

NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala)

SNV
Germline

Chr13:72965350

Pathogenic

Joubert syndrome 33

No Assertion Criteria Provided

CA252588736

rs_987735817

1 SubmittersRCV000515457

NM_001384732.1(CPLANE1):c.6328A>G (p.Asn2110Asp)

SNV
Germline

Chr5:37170175

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3238282

rs_139528477

4 SubmittersRCV000521762 RCV001248106 RCV001332487 RCV003925564

NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn)

SNV
Germline

Chr5:37184809

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3238703

rs_138157520

4 SubmittersRCV000520136 RCV001331273 RCV001248105 RCV003925565

NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met)

SNV
Germline

Chr5:37226940

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3239081

rs_77739540

6 SubmittersRCV000520085 RCV002481731 RCV003327409 RCV003962453

NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)

SNV
Germline

Chr6:135466342

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012871

rs_370059449

4 SubmittersRCV000518979 RCV001295361 RCV003139738 RCV004023597

NM_001134831.2(AHI1):c.83G>A (p.Arg28His)

SNV
Germline

Chr6:135490675

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4012956

rs_36115433

3 SubmittersRCV000522733 RCV002476066 RCV002528251

NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)

SNV
Germline

Chr8:67118817

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 21
CSPP1-related disorder

Criteria Provided
Conflicting Classifications

CA4770621

rs_199608505

5 SubmittersRCV000521993 RCV000703453 RCV003925555

NM_015631.6(TCTN3):c.959T>C (p.Val320Ala)

SNV
Germline

Chr10:95685566

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Conflicting Classifications

CA5621009

rs_546805063

2 SubmittersRCV000522657 RCV001451183

NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660

NM_001134831.2(AHI1):c.708A>G (p.Lys236=)

SNV
Germline

Chr6:135465855

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012782

rs_368281930

2 SubmittersRCV000542081 RCV001157233

NM_153704.6(TMEM67):c.638G>A (p.Arg213His)

SNV
Germline

Chr8:93765633

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 6
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA4807723

rs_770605718

4 SubmittersRCV000542172 RCV002245001 RCV002476130 RCV003488671

NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)

SNV
Germline

Chr8:93765410

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4807691

rs_200329273

4 SubmittersRCV000527602 RCV001420616 RCV000999054

NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)

SNV
Germline

Chr9:136438797

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Joubert syndrome 1
not specified
Inborn genetic diseases
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5337119

rs_143107549

6 SubmittersRCV000839869 RCV001088844 RCV001335948 RCV003151089 RCV002527750 RCV004541674

NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)

SNV
Germline

Chr10:102630079

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Joubert syndrome 32
Medulloblastoma
Familial meningioma
Gorlin syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5668000

rs_778125780

7 SubmittersRCV000545540 RCV000561960 RCV000763644 RCV001294222 RCV003139745 RCV003470694

NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)

SNV
Germline

Chr12:110642349

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 13
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6786858

rs_188817098

5 SubmittersRCV000552632 RCV000763790 RCV001591218 RCV002528337

NM_025114.4(CEP290):c.6358-1G>A

SNV
Germline

Chr12:88060995

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742

NM_025114.4(CEP290):c.384T>C (p.Asp128=)

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Leber congenital amaurosis 10
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV001110659 RCV001110660 RCV001112628 RCV001821528 RCV000550067 RCV001112627 RCV001112629 RCV003889921

NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711500

rs_184323010

4 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187

NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)

SNV
Germline

Chr14:58448363

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

CA7205493

rs_780520735

1 SubmittersRCV000535889

NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile)

SNV
Germline

Chr14:58450662

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7205542

rs_771000156

2 SubmittersRCV000533867 RCV004024331

NM_025114.4(CEP290):c.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided
Meckel syndrome, type 4
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV000542843 RCV000787558 RCV001199655 RCV001091342 RCV002289749 RCV002497107

NM_001329943.3(KIAA0586):c.2944+4A>C

SNV
Germline

Chr14:58477245

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7206009

rs_372841738

2 SubmittersRCV000554790 RCV002266986

NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)

SNV
Germline

Chr10:102617364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Gorlin syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667904

rs_368020224

4 SubmittersRCV000568227 RCV000705071 RCV000763643 RCV003459402

NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)

SNV
Germline

ChrX:13751304

Likely pathogenic

Condition: not provided
Joubert syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA412339741

rs_1555904005

2 SubmittersRCV000579002 RCV003147509

NM_153704.6(TMEM67):c.1575+5G>A

SNV
Germline

Chr8:93791324

Conflicting classifications of pathogenicity

Joubert syndrome 6
not specified

Criteria Provided
Conflicting Classifications

CA658683514

rs_1554555063

2 SubmittersRCV000590124 RCV002282247

NM_025114.4(CEP290):c.5012+2T>C

SNV
Germline

Chr12:88083029

Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003465334 RCV003485612

NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058868

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Kidney disorder
CEP290-related disorder
Leber congenital amaurosis 10
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002294351 RCV002282253 RCV002250666 RCV002506412 RCV003459464

NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)

SNV
Germline

Chr4:15538080

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863798

rs_201884883

5 SubmittersRCV000594861 RCV000694442 RCV000765756 RCV001148070 RCV001148071

NM_001128178.3(NPHP1):c.772-5T>C

SNV
Germline

Chr2:110163140

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827225

rs_201478764

3 SubmittersRCV000592386 RCV001134447 RCV001134448 RCV001134446 RCV003748247

NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)

SNV
Germline

Chr4:15537964

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA2863781

rs_185072004

4 SubmittersRCV000597873 RCV000827144 RCV001083162 RCV001147081 RCV001147082

NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)

SNV
Germline

Chr11:61393319

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 2
Familial aplasia of the vermis
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

CA222895126

rs_900061092

4 SubmittersRCV000598481 RCV001276405 RCV001088496 RCV004530681

NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)

SNV
Germline

Chr16:75541371

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8176052

rs_369010440

3 SubmittersRCV000593061 RCV002065162 RCV003160029

NM_015631.6(TCTN3):c.1591-5C>T

SNV
Germline

Chr10:95664305

Conflicting classifications of pathogenicity

Condition: not provided
Orofacial-digital syndrome IV
Joubert syndrome 18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5620769

rs_181107730

4 SubmittersRCV000727096 RCV001088953 RCV002531055

NM_001077418.3(TMEM231):c.216G>T (p.Leu72=)

SNV
Germline

Chr16:75555897

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Conflicting Classifications

CA8176261

rs_751840699

2 SubmittersRCV000597149 RCV002062063

NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)

SNV
Germline

Chr16:53692093

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058113

rs_780770984

6 SubmittersRCV000598220 RCV000817532 RCV001271341 RCV002476313 RCV004530699

NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)

SNV
Germline

Chr16:53692254

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Familial aplasia of the vermis
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8058130

rs_201413825

7 SubmittersRCV000596655 RCV001248488 RCV001330328 RCV001829675 RCV002476328 RCV003278935

NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)

SNV
Germline

Chr4:15589603

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA2864358

rs_146843542

5 SubmittersRCV000593757 RCV001755983 RCV001474086 RCV001146865 RCV001146866

NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)

SNV
Germline

Chr16:75545360

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Conflicting Classifications

CA8176153

rs_543122080

2 SubmittersRCV000598629 RCV002532705

NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)

SNV
Germline

Chr4:15515909

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863521

rs_201465430

8 SubmittersRCV000614384 RCV000862325 RCV001146974 RCV001146975 RCV001700232 RCV004543407

NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)

SNV
Germline

Chr6:135290476

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Joubert syndrome 3
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4011960

rs_188583221

4 SubmittersRCV000608290 RCV000861193 RCV001157000 RCV003980163

NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)

SNV
Germline

Chr5:37183388

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3238648

rs_147588579

8 SubmittersRCV000945598 RCV001152543 RCV003927959

NM_018718.3(CEP41):c.278-15A>C

SNV
Germline

Chr7:130404723

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 15

Criteria Provided
Conflicting Classifications

CA4485612

rs_142452124

3 SubmittersRCV000607229 RCV001158770

NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)

SNV
Germline

Chr8:67190725

Conflicting classifications of pathogenicity

Joubert syndrome 21
6 conditions
Condition: not provided
CSPP1-related disorder

Criteria Provided
Conflicting Classifications

CA4771124

rs_201629827

5 SubmittersRCV000714686 RCV000735303 RCV001718897 RCV003935669

NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)

SNV
Germline

Chr16:75556115

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 11
Joubert syndrome 20
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8176304

rs_201181950

3 SubmittersRCV000607297 RCV000878633 RCV002528745

NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)

SNV
Germline

Chr5:37245569

Pathogenic/Likely pathogenic

Inborn genetic diseases
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA359523586

rs_1554117456

2 SubmittersRCV000622958 RCV002469220

NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)

SNV
Germline

Chr8:93795448

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome 6
not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA371692274

rs_1281778614

4 SubmittersRCV000624890 RCV000680126 RCV001821759 RCV001855314

NM_001352754.2(ARMC9):c.879G>A (p.Thr293=)

SNV
Germline

Chr2:231240041

Pathogenic/Likely pathogenic

Joubert syndrome 30
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2160077

rs_766572502

3 SubmittersRCV000625743 RCV001234516

NM_014714.4(IFT140):c.3141+1G>T

SNV
Germline

Chr16:1524551

Pathogenic

Saldino-Mainzer syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Condition: not provided
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7813303

rs_764770536

3 SubmittersRCV000626463 RCV001091435 RCV002529791

NM_001378615.1(CC2D2A):c.1149+1G>A

SNV
Germline

Chr4:15516757

Pathogenic/Likely pathogenic

7 conditions
Joubert syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356410089

rs_1553827236

2 SubmittersRCV000626743 RCV001197299 RCV001784183

NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

Condition: not provided
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
CEP290-related disorder
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000763316 RCV000779118 RCV000814304 RCV003465363

NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter)

SNV
Germline

Chr1:3839096

Pathogenic

Joubert syndrome 25

Criteria Provided
Single Submitter

CA551820

rs_372048855

1 SubmittersRCV000652584

NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter)

SNV
Germline

Chr5:37125255

Pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

CA359498396

rs_1345413118

1 SubmittersRCV000646712

NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)

SNV
Germline

Chr8:93793267

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome and related disorders
Meckel syndrome, type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4808035

rs_747025617

4 SubmittersRCV000636959 RCV001591420 RCV001779030 RCV003338698

NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)

SNV
Germline

Chr10:95685579

Conflicting classifications of pathogenicity

Joubert syndrome 18
Orofacial-digital syndrome IV
Condition: not provided
not specified
TCTN3-related disorder

Criteria Provided
Conflicting Classifications

CA5621010

rs_200042949

8 SubmittersRCV000650532 RCV001572868 RCV003151118 RCV004533402

NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)

SNV
Germline

Chr12:88125357

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

7 SubmittersRCV000636983 RCV000763317 RCV001356853 RCV001274130 RCV003459522

NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)

SNV
Germline

Chr14:58488756

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

CA7206223

rs_201202020

3 SubmittersRCV000652582 RCV001564178 RCV003918073

NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)

SNV
Germline

Chr14:58482571

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7206037

rs_199537542

5 SubmittersRCV000652575 RCV001816637 RCV001584506

NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)

SNV
Germline

Chr16:53652983

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057715

rs_141201084

3 SubmittersRCV000636964 RCV001115809 RCV001117240 RCV001115808 RCV001535066

NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)

SNV
Germline

ChrX:13749490

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Conflicting Classifications

CA10351708

rs_778349684

2 SubmittersRCV000638947 RCV000766074

NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln)

SNV
Germline

Chr3:94053229

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142510905

5 SubmittersRCV000657985 RCV000764519 RCV003372797

NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)

SNV
Unknown

Chr11:61397880

Likely pathogenic

Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Single Submitter

rs_147267631

1 SubmittersRCV001787343

NM_001173990.3(TMEM216):c.137-1G>A

SNV
Germline

Chr11:61393883

Likely pathogenic

Familial aplasia of the vermis
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554972547

2 SubmittersRCV000810263 RCV001787350

NM_017777.4(MKS1):c.1166-2A>G

SNV
Germline

Chr17:58208003

Likely pathogenic

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel-Gruber syndrome
Familial aplasia of the vermis
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_1488635637

3 SubmittersRCV000672973 RCV001378641 RCV003472150

NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr17:58213011

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555599412

4 SubmittersRCV000670245 RCV000701980 RCV002469247 RCV003472123

NM_017777.4(MKS1):c.1A>G (p.Met1Val)

SNV
Unknown

Chr17:58219230

Likely pathogenic

Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Single Submitter

rs_1555601787

1 SubmittersRCV000674956

NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)

SNV
Germline

Chr17:58206159

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

rs_772719574

4 SubmittersRCV000669895 RCV001201422 RCV001830443

NM_017777.4(MKS1):c.858+1G>A

SNV
Germline

Chr17:58212981

Conflicting classifications of pathogenicity

Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_756102768

3 SubmittersRCV000672305 RCV002225110 RCV003767996

NM_017777.4(MKS1):c.515+2T>G

SNV
Unknown

Chr17:58214739

Likely pathogenic

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28

Criteria Provided
Single Submitter

rs_1376664664

1 SubmittersRCV000669368

NM_017777.4(MKS1):c.190+2T>C

SNV
Germline

Chr17:58218618

Likely pathogenic

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 1
Joubert syndrome 28
Condition: not provided
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_375170572

9 SubmittersRCV000665861 RCV000800425 RCV001274929 RCV001580533 RCV001784235 RCV003472074

NM_017777.4(MKS1):c.1408-2A>G

SNV
Unknown

Chr17:58206549

Likely pathogenic

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Single Submitter

rs_1555596943

1 SubmittersRCV000672643

NM_001128178.3(NPHP1):c.1761+5A>C

SNV
Germline

Chr2:110125632

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

rs_201030203

3 SubmittersRCV000685833 RCV001128700 RCV001128701 RCV001128702 RCV004544942

NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)

SNV
Germline

Chr2:110161686

Pathogenic

Nephronophthisis
Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_765263671

4 SubmittersRCV000702943 RCV001200637 RCV002507229 RCV003472242

NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)

SNV
Germline

Chr4:15599584

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

rs_767260373

2 SubmittersRCV000703032 RCV000984486

NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter)

SNV
Germline

Chr5:37169324

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

rs_1381740657

2 SubmittersRCV000700801 RCV000778765

NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly)

SNV
Germline

Chr8:67105943

Conflicting classifications of pathogenicity

Joubert syndrome 21
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146127619

2 SubmittersRCV000703006 RCV001562297

NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter)

SNV
Germline

Chr8:67172417

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_1380418532

1 SubmittersRCV000705921

NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)

SNV
Germline

Chr6:135433188

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome and related disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_756276537

3 SubmittersRCV000688299 RCV002298739 RCV003317340

NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter)

SNV
Germline

Chr14:58459990

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_1566827747

1 SubmittersRCV000685038

NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)

SNV
Germline

Chr12:88130553

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Leber congenital amaurosis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Inborn genetic diseases
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_772170760

6 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002499260 RCV002536346 RCV003465619

NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)

SNV
Germline

Chr16:75541410

Conflicting classifications of pathogenicity

Joubert syndrome 20
Meckel syndrome, type 11
Condition: not provided
TMEM231-related disorder

Criteria Provided
Conflicting Classifications

rs_199813223

7 SubmittersRCV000691280 RCV001724141 RCV003928169

NM_001329943.3(KIAA0586):c.3781+2T>C

SNV
Germline

Chr14:58488876

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_1331480187

1 SubmittersRCV000695366

NM_001077418.3(TMEM231):c.139+47C>A

SNV
Germline

Chr16:75556024

Pathogenic/Likely pathogenic

Meckel syndrome, type 11
Joubert syndrome 20
Joubert syndrome and related disorders
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_200063331

3 SubmittersRCV000685081 RCV001731886 RCV002544710

NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Condition: not provided
Senior-Loken syndrome 6
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201569048

7 SubmittersRCV000689950 RCV001115042 RCV001115044 RCV001115041 RCV001115043 RCV001756171 RCV001115045 RCV001829910 RCV002477547 RCV004527741 RCV004026344

NM_003611.3(OFD1):c.324G>A (p.Met108Ile)

SNV
Germline

ChrX:13738857

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_763219658

4 SubmittersRCV000692393 RCV000766073 RCV003133533 RCV003330905

NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr12:88111318

Pathogenic

Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_753884599

5 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647

NM_004311.4(ARL3):c.445C>T (p.Arg149Cys)

SNV
Germline

Chr10:102685872

Pathogenic

Joubert syndrome 35
Condition: not provided

Criteria Provided
Single Submitter

rs_776901858

2 SubmittersRCV000714511 RCV001861999

NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)

SNV
Germline

Chr16:53687912

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1277577195

5 SubmittersRCV000722572 RCV000812456 RCV001273840 RCV002507274

NM_015631.6(TCTN3):c.627+1G>A

SNV
Germline

Chr10:95687591

Likely pathogenic

Condition: not provided
Joubert syndrome 18
Orofacial-digital syndrome IV
TCTN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566074908

3 SubmittersRCV000722640 RCV002535034 RCV004535803

NM_015631.6(TCTN3):c.1569A>G (p.Leu523=)

SNV
Germline

Chr10:95680493

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Conflicting Classifications

rs_201367852

2 SubmittersRCV000729125 RCV001449195

NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)

SNV
Germline

Chr2:110169913

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1349732291

3 SubmittersRCV000730826 RCV002493328 RCV003748273

NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)

SNV
Germline

Chr4:15550961

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_1379770755

3 SubmittersRCV000731362 RCV001148605 RCV001150182 RCV001419735

NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)

SNV
Germline

Chr16:53652562

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1037406858

4 SubmittersRCV000732387 RCV001855682 RCV002485914 RCV004535855

NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)

SNV
Germline

Chr14:58428328

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_202124602

6 SubmittersRCV000732393 RCV001318623 RCV001809790 RCV002535271

NM_001173990.3(TMEM216):c.*6A>G

SNV
Germline

Chr11:61398282

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 2
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

rs_541341560

3 SubmittersRCV000732958 RCV001279276 RCV004535862

NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr4:15514740

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 6
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

rs_374554530

5 SubmittersRCV000734125 RCV001145026 RCV001063569 RCV001145025 RCV003258954 RCV004527766

NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)

SNV
Germline

Chr11:61393253

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 2
Familial aplasia of the vermis
Joubert syndrome 2
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

rs_769285695

4 SubmittersRCV000735031 RCV001102917 RCV001496135 RCV001102918 RCV004540076

NM_001128178.3(NPHP1):c.771+3G>A

SNV
Germline

Chr2:110164685

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1365022834

3 SubmittersRCV000735157 RCV002507313 RCV002535419

NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)

SNV
Germline

Chr13:72908550

Likely pathogenic

Joubert syndrome 33
Joubert syndrome 33
Cephalocele
Dandy-Walker syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_144610914

6 SubmittersRCV000735944 RCV000779664 RCV001257995

NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr13:72893914

Pathogenic

Joubert syndrome 33

No Assertion Criteria Provided

rs_539010725

2 SubmittersRCV000735820

NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter)

SNV
Germline

Chr14:58498819

Likely pathogenic

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566903524

2 SubmittersRCV000760761 RCV001250539

NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)

SNV
Germline

Chr16:53645857

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_145807002

3 SubmittersRCV000760815 RCV001869036 RCV002485971

NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)

SNV
Germline

Chr6:135394853

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_777215595

8 SubmittersRCV000762434 RCV001073854 RCV001002862 RCV001785719 RCV001237047

NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)

SNV
Germline

Chr17:58216135

Conflicting classifications of pathogenicity

MKS1-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

rs_990955357

5 SubmittersRCV000778505 RCV001389425 RCV001729702 RCV003989601 RCV003472305

NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)

SNV
Germline

Chr13:72965358

Pathogenic/Likely pathogenic

Joubert syndrome 33
Cephalocele
Dandy-Walker syndrome

No Assertion Criteria Provided

rs_911707459

2 SubmittersRCV000779665 RCV001257996

NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly)

SNV
Germline

Chr3:94035372

Conflicting classifications of pathogenicity

Joubert syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_529580146

3 SubmittersRCV000784937 RCV001575449

NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)

SNV
Germline

Chr2:201632186

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_972221242

2 SubmittersRCV000785906

NM_001044385.3(TMEM237):c.80-2A>G

SNV
Germline

Chr2:201639047

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_1445957469

1 SubmittersRCV000785905

NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter)

SNV
Germline

Chr5:37125344

Likely pathogenic

Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_1482303814

2 SubmittersRCV000785944

NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)

SNV
Germline

Chr12:88071860

Pathogenic/Likely pathogenic

Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_561598805

5 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316

NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr12:88118660

Pathogenic/Likely pathogenic

Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1465414886

2 SubmittersRCV000785903 RCV001383424

NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)

SNV
Germline

Chr16:53619047

Likely pathogenic

Joubert syndrome 7

Criteria Provided
Single Submitter

rs_1567800920

2 SubmittersRCV000785895

NM_025114.4(CEP290):c.5587-1G>C

SNV
Germline

Chr12:88077345

Pathogenic

Leber congenital amaurosis
Retinal dystrophy
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_968692633

9 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318

NM_001134831.2(AHI1):c.2623+1G>T

SNV
Germline

Chr6:135428628

Pathogenic

Joubert syndrome 3
Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_751823180

3 SubmittersRCV000791182 RCV000987786 RCV001856246

NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)

SNV
Germline

Chr2:201628118

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_775449384

1 SubmittersRCV000801648

NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)

SNV
Germline

Chr6:135448458

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

rs_371835751

2 SubmittersRCV000805329 RCV001155543

NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)

SNV
Germline

Chr8:67149794

Conflicting classifications of pathogenicity

Joubert syndrome 21
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199996939

3 SubmittersRCV000814999 RCV001560586

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 1
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_778030031

5 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535

NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)

SNV
Germline

Chr12:88118549

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_760415289

7 SubmittersRCV000810414 RCV001274127 RCV001091339 RCV002487758 RCV003467439

NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys)

SNV
Germline

Chr14:58492265

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201929144

2 SubmittersRCV000806165 RCV004028239

NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr16:53696185

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_751444506

3 SubmittersRCV000793385 RCV002263980 RCV002282368

NM_015681.6(B9D1):c.151T>C (p.Ser51Pro)

SNV
Germline

Chr17:19357933

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 27
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_546359789

4 SubmittersRCV000821741 RCV001265575 RCV001759613

NM_001044385.3(TMEM237):c.677+1G>A

SNV
Germline

Chr2:201629728

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_793888505

1 SubmittersRCV000810011

NM_001082538.3(TCTN1):c.-14G>A

SNV
Germline

Chr12:110614169

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 13

Criteria Provided
Conflicting Classifications

rs_762612208

2 SubmittersRCV000841470 RCV001114792

NM_001044385.3(TMEM237):c.275-2A>G

SNV
Germline

Chr2:201633433

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_1574582671

1 SubmittersRCV000853295

NM_153704.6(TMEM67):c.313-3T>G

SNV
Germline

Chr8:93758480

Likely pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

rs_1586336362

1 SubmittersRCV000853609

NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr6:135455774

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_545841352

3 SubmittersRCV000862128 RCV001155544 RCV002225753

NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)

SNV
Germline

Chr12:110640419

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 13

Criteria Provided
Conflicting Classifications

rs_371899538

2 SubmittersRCV000860724 RCV001111501

NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)

SNV
Germline

Chr12:123694892

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_372235872

2 SubmittersRCV001114301 RCV001114300 RCV001434420

NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_375817905

5 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193

NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Meckel syndrome, type 4
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_200454865

7 SubmittersRCV000860704 RCV001112276 RCV001111804 RCV001111805 RCV001111806 RCV001275033 RCV001111807 RCV001546810 RCV004538174

NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)

SNV
Germline

Chr9:136439116

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_187724945

2 SubmittersRCV001168668 RCV001487906

NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

rs_370464321

3 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057

NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
CEP290-related disorder
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

rs_757738553

3 SubmittersRCV001110312 RCV001110314 RCV001110313 RCV004538287 RCV000869753 RCV001110315 RCV001110316

NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related disorder
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

rs_546463648

4 SubmittersRCV001113520 RCV001275027 RCV004540210 RCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519

NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Kidney disorder
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_147362398

6 SubmittersRCV000864755 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001111623 RCV001275029 RCV002294390 RCV003889993 RCV004538226

NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)

SNV
Germline

Chr16:53638360

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_574430009

3 SubmittersRCV000868807 RCV001115636 RCV001115635 RCV001115637 RCV001271324

NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)

SNV
Germline

Chr16:53696186

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

rs_550006406

2 SubmittersRCV000867681 RCV001119074 RCV001119075 RCV001119076

NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp)

SNV
Germline

Chr2:201629321

Conflicting classifications of pathogenicity

Joubert syndrome 14
TMEM237-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_151163650

3 SubmittersRCV000878657 RCV003948275 RCV004027911

NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)

SNV
Germline

Chr7:130440947

Conflicting classifications of pathogenicity

Joubert syndrome 15
Condition: not provided
CEP41-related disorder

Criteria Provided
Conflicting Classifications

rs_147494464

4 SubmittersRCV000878049 RCV001567050 RCV003930457

NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)

SNV
Germline

Chr9:136431843

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_780119172

2 SubmittersRCV001166878 RCV001401870

NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)

SNV
Germline

Chr2:201632129

Conflicting classifications of pathogenicity

Joubert syndrome 14
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199500256

3 SubmittersRCV000945384 RCV001593134

NM_001384732.1(CPLANE1):c.9063C>T (p.Tyr3021=)

SNV
Germline

Chr5:37121739

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377142277

2 SubmittersRCV001156145 RCV002066272

NM_001384732.1(CPLANE1):c.4074C>T (p.Ile1358=)

SNV
Germline

Chr5:37187420

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

rs_145018253

4 SubmittersRCV000950899 RCV001153835

NM_006346.4(PIBF1):c.1793T>G (p.Leu598Arg)

SNV
Germline

Chr13:72931227

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 33

Criteria Provided
Conflicting Classifications

rs_143644781

2 SubmittersRCV000950227 RCV001334537

NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)

SNV
Germline

Chr14:58428446

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Condition: not provided
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

rs_183168709

4 SubmittersRCV000954008 RCV001559430 RCV003925991

NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)

SNV
Germline

Chr14:58444066

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided
not specified
Inborn genetic diseases
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

rs_193056942

8 SubmittersRCV000952078 RCV001585883 RCV001818977 RCV002547231 RCV003925952

NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=)

SNV
Germline

Chr14:58488781

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Conflicting Classifications

rs_143158234

3 SubmittersRCV000952359 RCV001084608

NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)

SNV
Germline

Chr14:58492147

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

rs_181413894

3 SubmittersRCV000951210 RCV001473687 RCV003943031

NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)

SNV
Germline

Chr14:58547804

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

rs_140026883

6 SubmittersRCV001087173 RCV000945424 RCV003960568

NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)

SNV
Germline

Chr2:201636839

Conflicting classifications of pathogenicity

Joubert syndrome 14
Condition: not provided
TMEM237-related disorder

Criteria Provided
Conflicting Classifications

rs_372100073

4 SubmittersRCV000964672 RCV003883516 RCV003972832

NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=)

SNV
Germline

Chr5:37183228

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

rs_373122844

4 SubmittersRCV001158022 RCV002066423 RCV003960842

NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu)

SNV
Germline

Chr14:58547844

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_750833160

2 SubmittersRCV002066446 RCV002548388

NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr)

SNV
Germline

Chr1:3831062

Conflicting classifications of pathogenicity

Joubert syndrome 25
Inborn genetic diseases
Condition: not provided
CEP104-related disorder

Criteria Provided
Conflicting Classifications

rs_140512094

4 SubmittersRCV002065589 RCV002539405 RCV003489958 RCV003940731

NM_001384732.1(CPLANE1):c.3812-5T>G

SNV
Germline

Chr5:37187847

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

rs_375780513

2 SubmittersRCV000889407 RCV001156462

NM_001384732.1(CPLANE1):c.9155C>G (p.Ser3052Cys)

SNV
Germline

Chr5:37121647

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

rs_557372169

2 SubmittersRCV000908319 RCV001153533

NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)

SNV
Germline

Chr9:136431894

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

rs_754015058

2 SubmittersRCV000925655 RCV001168594

NM_025114.4(CEP290):c.6358-5C>T

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Leber congenital amaurosis 10
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_372986399

4 SubmittersRCV000915534 RCV001110040 RCV001114082 RCV001110041 RCV001110042 RCV001272014 RCV001110043 RCV004533513

NM_014704.4(CEP104):c.626A>G (p.Glu209Gly)

SNV
Germline

Chr1:3839717

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 25

Criteria Provided
Conflicting Classifications

rs_140029326

2 SubmittersRCV000981702 RCV002066495

NM_014704.4(CEP104):c.550G>C (p.Glu184Gln)

SNV
Germline

Chr1:3844923

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 25

Criteria Provided
Conflicting Classifications

rs_146922115

3 SubmittersRCV000981701 RCV002066494

NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala)

SNV
Germline

Chr5:37206242

Conflicting classifications of pathogenicity

Joubert syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1019442092

2 SubmittersRCV000987514 RCV001858670

NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)

SNV
Unknown

Chr6:135447008

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

rs_1583276758

1 SubmittersRCV000987789

NM_025114.4(CEP290):c.6271-8T>G

SNV
Germline

Chr12:88062786

Pathogenic/Likely pathogenic

Joubert syndrome 1
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
See cases
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1039146791

4 SubmittersRCV000988880 RCV001869357 RCV002252287 RCV003467551

NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)

SNV
Unknown

Chr12:88084586

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

rs_1592836704

1 SubmittersRCV000988882

NM_025114.4(CEP290):c.1522+1G>C

SNV
Unknown

Chr12:88120113

Pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

rs_1592639588

1 SubmittersRCV000988889

NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)

SNV
Unknown

Chr12:88129007

Pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

rs_1592668925

1 SubmittersRCV000988891

NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)

SNV
Germline

Chr12:88139522

Conflicting classifications of pathogenicity

Joubert syndrome 1
Retinal dystrophy
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
not specified
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_779010679

5 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546

NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)

SNV
Unknown

Chr12:88141294

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

rs_1434632102

1 SubmittersRCV000988893

NM_001382391.1(CSPP1):c.2968+1G>T

SNV
Germline

Chr8:67172556

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

rs_587777142

2 SubmittersRCV000991297

NM_006346.4(PIBF1):c.1133A>C (p.His378Pro)

SNV
Germline

Chr13:72835278

Conflicting classifications of pathogenicity

Joubert syndrome 33
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147863910

2 SubmittersRCV000995834 RCV003363038

NM_006346.4(PIBF1):c.1801C>T (p.Arg601Ter)

SNV
Germline

Chr13:72931235

Pathogenic

Joubert syndrome 33

Criteria Provided
Single Submitter

rs_1594219498

1 SubmittersRCV000995835

NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr10:73193490

Pathogenic

Joubert syndrome 36

No Assertion Criteria Provided

rs_1259897171

1 SubmittersRCV000999700

NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)

SNV
Germline

Chr9:136429748

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Rod-cone dystrophy
Joubert syndrome and related disorders
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588830568

4 SubmittersRCV001003058 RCV001376300 RCV002282421 RCV002549199

NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)

SNV
Germline

Chr12:88071848

Pathogenic

Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinal dystrophy
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592784618

5 SubmittersRCV001002935 RCV001860525 RCV003890157 RCV004004474 RCV003467562

NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu)

SNV
Germline

Chr8:67118307

Conflicting classifications of pathogenicity

Joubert syndrome 21
Microcephaly
CSPP1-related disorder

Criteria Provided
Conflicting Classifications

rs_200535417

3 SubmittersRCV001071192 RCV001252707 RCV003928659

NM_001384732.1(CPLANE1):c.8663+1G>T

SNV
Germline

Chr5:37139339

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

rs_1580084520

1 SubmittersRCV001004927

NM_001384732.1(CPLANE1):c.3507+1G>A

SNV
Germline

Chr5:37201590

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

rs_1580686235

1 SubmittersRCV001004932

NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_45502896

4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577

NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)

SNV
Germline

Chr16:27573942

Pathogenic/Likely pathogenic

Joubert syndrome 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_142375551

6 SubmittersRCV001027977 RCV002069562

NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter)

SNV
Germline

Chr12:110645089

Pathogenic

Joubert syndrome 13

No Assertion Criteria Provided

rs_1593376626

1 SubmittersRCV001029772

NM_025114.4(CEP290):c.297+1G>A

SNV
Germline

Chr12:88139144

Pathogenic

Leber congenital amaurosis 10
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

NM_014704.4(CEP104):c.1588A>G (p.Ile530Val)

SNV
Germline

Chr1:3833933

Conflicting classifications of pathogenicity

Joubert syndrome 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_561088543

2 SubmittersRCV001065049 RCV003243461

NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)

SNV
Germline

Chr2:110123939

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_1311042980

3 SubmittersRCV001059818 RCV003467802 RCV002497439

NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr2:110165137

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_753517219

3 SubmittersRCV001039504 RCV002505566 RCV003461446

NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)

SNV
Germline

Chr2:201636771

Conflicting classifications of pathogenicity

Joubert syndrome 14
Condition: not provided
TMEM237-related disorder

Criteria Provided
Conflicting Classifications

rs_373811074

4 SubmittersRCV001047396 RCV001551260 RCV003938415

NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)

SNV
Germline

Chr4:15537014

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

rs_368669579

2 SubmittersRCV001070174 RCV001149504 RCV001149505

NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr4:15567713

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_760676442

5 SubmittersRCV001041856 RCV001280749 RCV002489573 RCV002276597

NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)

SNV
Germline

Chr5:37180870

Pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_766699868

4 SubmittersRCV001039457 RCV001332486 RCV002505565

NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter)

SNV
Germline

Chr5:37206414

Pathogenic

Condition: not provided
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_1359437084

2 SubmittersRCV001050229 RCV002471017

NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)

SNV
Germline

Chr6:135427260

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome 3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1355690902

4 SubmittersRCV001064140 RCV001254914 RCV001075354

NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)

SNV
Germline

Chr6:135447145

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

rs_553366477

2 SubmittersRCV001051404 RCV002497403

NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)

SNV
Germline

Chr6:135466135

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Condition: not provided
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_192524061

4 SubmittersRCV001066257 RCV002067723 RCV002482100 RCV004030603

NM_001134831.2(AHI1):c.279C>T (p.Ser93=)

SNV
Germline

Chr6:135466284

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

rs_1205189543

2 SubmittersRCV001054332 RCV002489634

NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter)

SNV
Germline

Chr8:67118300

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_756752153

1 SubmittersRCV001066976

NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter)

SNV
Germline

Chr8:67149911

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_1825358020

1 SubmittersRCV001046614

NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)

SNV
Germline

Chr8:67175436

Conflicting classifications of pathogenicity

Joubert syndrome 21
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200546493

4 SubmittersRCV001034776 RCV002552064 RCV003432994

NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)

SNV
Germline

Chr9:136438951

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 1
Condition: not provided
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

rs_78211353

5 SubmittersRCV001039160 RCV001168667 RCV001556039 RCV004528348

NM_016169.4(SUFU):c.664C>G (p.Leu222Val)

SNV
Germline

Chr10:102593702

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Joubert syndrome 32
Medulloblastoma
Familial meningioma
Gorlin syndrome

Criteria Provided
Conflicting Classifications

rs_765345575

3 SubmittersRCV001066850 RCV002365764 RCV002497467

NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)

SNV
Germline

Chr11:61368635

Conflicting classifications of pathogenicity

Joubert syndrome 16
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141029883

3 SubmittersRCV001039456 RCV001357922 RCV002553058

NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 10
Joubert syndrome 5
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_199583200

5 SubmittersRCV001057249 RCV001111724 RCV001111726 RCV001111727 RCV001562596 RCV001832517 RCV001111723 RCV001111725 RCV004536115

NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr12:88136717

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_770126103

5 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003462577 RCV003228800

NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)

SNV
Germline

Chr14:58488761

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_776003330

1 SubmittersRCV001060062

NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)

SNV
Germline

Chr16:53648965

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_542206983

2 SubmittersRCV001052996 RCV003323789

NM_001077418.3(TMEM231):c.140-30A>C

SNV
Germline

Chr16:75556003

Likely pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

rs_2080806593

1 SubmittersRCV001070947

NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)

SNV
Germline

Chr17:58216183

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
MKS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201476674

6 SubmittersRCV001827371 RCV001058713 RCV002275203 RCV002468132 RCV004528365 RCV004031852

NM_001044385.3(TMEM237):c.553+1G>A

SNV
Germline

Chr2:201632050

Pathogenic/Likely pathogenic

Joubert syndrome 14
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_80034299

2 SubmittersRCV001043477 RCV003226424

NM_001382391.1(CSPP1):c.1976-2A>G

SNV
Germline

Chr8:67149781

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_1320076769

1 SubmittersRCV001057767

NM_025114.4(CEP290):c.1624-5T>G

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

NM_025114.4(CEP290):c.1189+1G>A

SNV
Germline

Chr12:88125245

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039659434

4 SubmittersRCV001063723 RCV001274129 RCV001814265 RCV003467821

NM_015272.5(RPGRIP1L):c.1244-1G>T

SNV
Germline

Chr16:53658879

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1306595038

2 SubmittersRCV001058076 RCV002479353

NM_015272.5(RPGRIP1L):c.776+1G>A

SNV
Germline

Chr16:53686432

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Condition: not provided
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_771226563

4 SubmittersRCV001070906 RCV001828525 RCV001784626 RCV002505659

NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)

SNV
Germline

Chr6:135429891

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_1784406093

3 SubmittersRCV001075578 RCV002497491 RCV002554762

NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)

SNV
Germline

Chr9:136431971

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome 1
Rod-cone dystrophy
Familial aplasia of the vermis
Condition: not provided
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

rs_375909217

6 SubmittersRCV001074129 RCV001198896 RCV001376361 RCV001320437 RCV003329377 RCV004528376

NM_001378615.1(CC2D2A):c.438+1G>T

SNV
Germline

Chr4:15502924

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

rs_1453265480

3 SubmittersRCV001378657 RCV001089971

NM_025114.4(CEP290):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_368984997

4 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004536141

NM_001329943.3(KIAA0586):c.1362+2T>C

SNV
Germline

Chr14:58456812

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_901508284

2 SubmittersRCV001091047 RCV003479279

NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)

SNV
Germline

Chr16:75545891

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Joubert syndrome 20
Meckel syndrome, type 11
Joubert syndrome 20
Joubert syndrome and related disorders
Orofacial-digital syndrome III

Criteria Provided
Conflicting Classifications

rs_1442638461

6 SubmittersRCV001091760 RCV001266402 RCV001335605 RCV001382651 RCV002240644 RCV003152616

NM_001173990.2(TMEM216):c.-86G>A

SNV
Germline

Chr11:61392546

Conflicting classifications of pathogenicity

Joubert syndrome 2
Meckel syndrome, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_188478638

2 SubmittersRCV001108138 RCV001105886 RCV003393843

NM_001173990.3(TMEM216):c.*303C>T

SNV
Germline

Chr11:61398579

Conflicting classifications of pathogenicity

Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Conflicting Classifications

rs_144613667

1 SubmittersRCV001103023 RCV001103024

NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)

SNV
Germline

Chr12:123696431

Conflicting classifications of pathogenicity

Meckel syndrome, type 8
Joubert syndrome 24
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_543166165

2 SubmittersRCV001110284 RCV001110285 RCV002067801

NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)

SNV
Germline

Chr12:123704581

Conflicting classifications of pathogenicity

Meckel syndrome, type 8
Joubert syndrome 24
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_553095875

2 SubmittersRCV001111039 RCV001111038 RCV002069789

NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_752046733

2 SubmittersRCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001112803 RCV001462557

NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_777353443

2 SubmittersRCV001110128 RCV001110127 RCV001110125 RCV001110126 RCV001110129 RCV002067798

NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_1159465602

2 SubmittersRCV001113347 RCV001113346 RCV001114719 RCV001114717 RCV001114718 RCV001400067

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_200587974

6 SubmittersRCV001109862 RCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001244757 RCV001279936 RCV002497520 RCV003227912 RCV004538332

NM_025114.4(CEP290):c.54G>C (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_886049885

2 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187

NM_015272.5(RPGRIP1L):c.*1033G>A

SNV
Germline

Chr16:53601043

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

rs_145688122

1 SubmittersRCV001118320 RCV001118321 RCV001118322

NM_015272.5(RPGRIP1L):c.*491C>G

SNV
Germline

Chr16:53601585

Conflicting classifications of pathogenicity

Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_35669682

2 SubmittersRCV001118427 RCV001118426 RCV001118428 RCV003326543

NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)

SNV
Germline

Chr16:53622320

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_973841786

4 SubmittersRCV001116968 RCV001116969 RCV001116970 RCV001856535 RCV002491365 RCV003425936

NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)

SNV
Germline

Chr16:53649009

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_768672275

2 SubmittersRCV001117154 RCV001117155 RCV001117156 RCV001433946

NM_015272.5(RPGRIP1L):c.530-15T>C

SNV
Germline

Chr16:53687980

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_368728064

4 SubmittersRCV001120945 RCV001120946 RCV001120947 RCV001700699 RCV001702084 RCV001409417

NM_015272.5(RPGRIP1L):c.230+14G>A

SNV
Germline

Chr16:53696137

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_1970739259

2 SubmittersRCV001117473 RCV001119073 RCV001119072 RCV002069898

NM_015681.6(B9D1):c.568A>T (p.Thr190Ser)

SNV
Germline

Chr17:19343366

Conflicting classifications of pathogenicity

Meckel syndrome, type 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 27
B9D1-related disorder

Criteria Provided
Conflicting Classifications

rs_147684440

5 SubmittersRCV001123362 RCV001458992 RCV002226757 RCV004555614

NM_001128178.3(NPHP1):c.*194T>C

SNV
Germline

Chr2:110123597

Conflicting classifications of pathogenicity

Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1

Criteria Provided
Conflicting Classifications

rs_189472793

1 SubmittersRCV001135697 RCV001135695 RCV001135696

NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)

SNV
Germline

Chr2:110178512

Conflicting classifications of pathogenicity

Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

rs_767719020

3 SubmittersRCV001136002 RCV001136003 RCV001136004 RCV001412525 RCV004545078

NM_001128178.3(NPHP1):c.1716+15T>C

SNV
Germline

Chr2:110129171

Conflicting classifications of pathogenicity

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_368590150

2 SubmittersRCV001131331 RCV001131332 RCV001134326 RCV001856698

NM_001128178.3(NPHP1):c.771+178C>T

SNV
Germline

Chr2:110164510

Conflicting classifications of pathogenicity

Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_767903893

2 SubmittersRCV001134449 RCV001134450 RCV001134451 RCV001481343

NM_001044385.3(TMEM237):c.*969A>G

SNV
Germline

Chr2:201623286

Conflicting classifications of pathogenicity

Joubert syndrome 14
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_137925244

2 SubmittersRCV001138688 RCV003433023

NM_001044385.3(TMEM237):c.*962A>C

SNV
Germline

Chr2:201623293

Conflicting classifications of pathogenicity

Joubert syndrome 14
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142403941

2 SubmittersRCV001138689 RCV003438668

NM_001044385.3(TMEM237):c.396-13G>A

SNV
Germline

Chr2:201632221

Conflicting classifications of pathogenicity

Joubert syndrome 14

Criteria Provided
Conflicting Classifications

rs_570600190

2 SubmittersRCV001138788

NM_001378615.1(CC2D2A):c.-87G>A

SNV
Germline

Chr4:15469989

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

rs_145443888

1 SubmittersRCV001144519 RCV001144520

NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)

SNV
Germline

Chr4:15502439

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199909714

3 SubmittersRCV001146449 RCV001146450 RCV002070776 RCV003433037

NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val)

SNV
Germline

Chr4:15511269

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_200044412

2 SubmittersRCV001149407 RCV001149408 RCV002070813

NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr4:15537042

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

rs_543650388

4 SubmittersRCV001145126 RCV001145127 RCV002032368 RCV002557107 RCV004528397

NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)

SNV
Germline

Chr4:15555101

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_765820512

2 SubmittersRCV001150292 RCV001150293 RCV001202139

NM_001378615.1(CC2D2A):c.1018-11T>C

SNV
Germline

Chr4:15516614

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_200340261

2 SubmittersRCV001147955 RCV001147956 RCV002557169

NM_001384732.1(CPLANE1):c.9180A>G (p.Pro3060=)

SNV
Germline

Chr5:37121622

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1762653550

2 SubmittersRCV001153532 RCV003769735

NM_001384732.1(CPLANE1):c.8908G>A (p.Ala2970Thr)

SNV
Germline

Chr5:37125294

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369585190

2 SubmittersRCV001156148 RCV001393985

NM_001384732.1(CPLANE1):c.8580C>T (p.Ala2860=)

SNV
Germline

Chr5:37142362

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145347771

3 SubmittersRCV001152362 RCV001474174

NM_001384732.1(CPLANE1):c.6123G>A (p.Ser2041=)

SNV
Germline

Chr5:37173803

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369977822

2 SubmittersRCV001152454 RCV002070850

NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro)

SNV
Germline

Chr5:37183233

Conflicting classifications of pathogenicity

Joubert syndrome 17
Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_536461045

3 SubmittersRCV001158023 RCV002497586 RCV003718370

NM_001384732.1(CPLANE1):c.4248G>A (p.Val1416=)

SNV
Germline

Chr5:37185021

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758567108

2 SubmittersRCV001153834 RCV003727919

NM_001384732.1(CPLANE1):c.3747C>T (p.Ile1249=)

SNV
Germline

Chr5:37195922

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145484347

2 SubmittersRCV001156463 RCV002070925

NM_001384732.1(CPLANE1):c.3428G>A (p.Arg1143Lys)

SNV
Germline

Chr5:37201670

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_377503881

3 SubmittersRCV001158121 RCV001429587 RCV004032831

NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)

SNV
Germline

Chr6:135323199

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_756637497

2 SubmittersRCV001151589 RCV003769723

NM_001134831.2(AHI1):c.459A>C (p.Thr153=)

SNV
Germline

Chr6:135466104

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_531024131

2 SubmittersRCV001151770 RCV001516742

NM_001134831.2(AHI1):c.2962-13G>A

SNV
Germline

Chr6:135404990

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_927158679

2 SubmittersRCV001154604 RCV002070893

NM_001134831.2(AHI1):c.189+12T>C

SNV
Germline

Chr6:135467569

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_199617785

2 SubmittersRCV001151772 RCV002070839

NM_018718.3(CEP41):c.*1974A>G

SNV
Germline

Chr7:130396917

Conflicting classifications of pathogenicity

Joubert syndrome 15
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_185337247

2 SubmittersRCV001161759 RCV003433062

NM_018718.3(CEP41):c.757+11T>C

SNV
Germline

Chr7:130400696

Conflicting classifications of pathogenicity

Joubert syndrome 15

Criteria Provided
Conflicting Classifications

rs_1050676312

2 SubmittersRCV001163693

NM_153704.6(TMEM67):c.2764+10A>T

SNV
Germline

Chr8:93809897

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_900677485

2 SubmittersRCV001163358 RCV001163357 RCV001163359 RCV002558566

NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)

SNV
Germline

Chr9:136430393

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_760729838

2 SubmittersRCV001166876 RCV002067815

NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)

SNV
Germline

Chr9:136433240

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_746782404

2 SubmittersRCV001166422 RCV002067810

NM_019892.6(INPP5E):c.-175C>T

SNV
Germline

Chr9:136439594

Conflicting classifications of pathogenicity

Joubert syndrome 1
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

rs_868202242

2 SubmittersRCV001169431 RCV004538389

NM_153704.6(TMEM67):c.2907+9T>C

SNV
Germline

Chr8:93815456

Conflicting classifications of pathogenicity

Nephronophthisis 11
Joubert syndrome 6
Meckel syndrome, type 3
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_372865972

2 SubmittersRCV001166921 RCV001166922 RCV001166923 RCV001404061

NM_019892.6(INPP5E):c.1034+8G>A

SNV
Germline

Chr9:136434029

Conflicting classifications of pathogenicity

Joubert syndrome 1
Familial aplasia of the vermis
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

rs_201272028

3 SubmittersRCV001166423 RCV001519254 RCV004538385

NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)

SNV
Germline

Chr4:15599563

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

rs_1721483506

5 SubmittersRCV001175193 RCV003142100 RCV004527415

NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)

SNV
Germline

Chr8:93758576

Likely pathogenic

Joubert syndrome 6

No Assertion Criteria Provided

rs_1812685381

1 SubmittersRCV001175228

NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter)

SNV
Germline

Chr12:123706808

Pathogenic

Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Single Submitter

rs_1956235509

2 SubmittersRCV001175225 RCV003987793

NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)

SNV
Germline

Chr14:44963523

Pathogenic

Familial aplasia of the vermis
Joubert syndrome 37

Criteria Provided
Single Submitter

rs_368448387

4 SubmittersRCV001175207 RCV001293025

NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter)

SNV
Germline

Chr16:27721624

Likely pathogenic

Joubert syndrome 26

No Assertion Criteria Provided

rs_757493420

1 SubmittersRCV001175212

NM_001378615.1(CC2D2A):c.2339-2A>C

SNV
Germline

Chr4:15553156

Pathogenic

Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

rs_1719092280

2 SubmittersRCV001175194 RCV004032983

NM_001134831.2(AHI1):c.2037-1G>C

SNV
Germline

Chr6:135433257

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

rs_1784918128

2 SubmittersRCV001175180

NM_016464.5(TMEM138):c.377-3C>G

SNV
Germline

Chr11:61368594

Pathogenic

Joubert syndrome 16

No Assertion Criteria Provided

rs_774110963

1 SubmittersRCV001175226

NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)

SNV
Unknown

Chr9:136429713

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

rs_763184652

1 SubmittersRCV001197573

NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)

SNV
Germline

Chr12:123690629

Pathogenic/Likely pathogenic

Meckel syndrome, type 8
Meckel syndrome, type 8
Joubert syndrome 24
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_754596743

3 SubmittersRCV001198916 RCV002504226 RCV002559269

NM_001329943.3(KIAA0586):c.1629G>A (p.Trp543Ter)

SNV
Unknown

Chr14:58458518

Pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

rs_2040056901

1 SubmittersRCV001196759

NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)

SNV
Germline

Chr16:53645748

Pathogenic/Likely pathogenic

Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_770291169

2 SubmittersRCV001199009 RCV001863136

NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr16:53652883

Pathogenic/Likely pathogenic

Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_745413543

3 SubmittersRCV001199008 RCV001241219 RCV002509625

NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)

SNV
Germline

Chr16:53686458

Pathogenic/Likely pathogenic

Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome and related disorders
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_993394322

4 SubmittersRCV001198756 RCV001225531 RCV002265959 RCV004538435

NM_025114.4(CEP290):c.6012-2A>G

SNV
Germline

Chr12:88068647

Pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_555755221

4 SubmittersRCV001198220 RCV001211579 RCV001828613 RCV003469314

NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)

SNV
Germline

Chr3:132688664

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_1007848349

2 SubmittersRCV001220697 RCV002298907

NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)

SNV
Germline

Chr7:130398980

Conflicting classifications of pathogenicity

Joubert syndrome 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_184146463

2 SubmittersRCV001222269 RCV002562551

NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)

SNV
Germline

Chr8:67112065

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_760205035

1 SubmittersRCV001221087

NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)

SNV
Germline

Chr17:58207945

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_781423785

3 SubmittersRCV001219659 RCV002497749 RCV003473772

NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)

SNV
Germline

Chr6:135466079

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_1270654737

3 SubmittersRCV001204778 RCV002491618 RCV003492229

NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)

SNV
Germline

Chr7:130398980

Conflicting classifications of pathogenicity

Joubert syndrome 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_184146463

2 SubmittersRCV001207993 RCV003380878

NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)

SNV
Germline

Chr8:67074271

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_1201375699

1 SubmittersRCV001206028

NM_015631.6(TCTN3):c.606A>G (p.Gln202=)

SNV
Germline

Chr10:95687613

Conflicting classifications of pathogenicity

Joubert syndrome 18
Orofacial-digital syndrome IV
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_777642622

2 SubmittersRCV001211573 RCV003311963

NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter)

SNV
Germline

Chr14:58444098

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_376338487

1 SubmittersRCV001210014

NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter)

SNV
Germline

Chr14:58459894

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

rs_2040187420

1 SubmittersRCV001201794

NM_001128178.3(NPHP1):c.771+169G>T

SNV
Germline

Chr2:110164519

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

rs_150520157

4 SubmittersRCV001203841 RCV001535975 RCV003462683 RCV003226442

NM_001044385.3(TMEM237):c.136+1G>T

SNV
Germline

Chr2:201638988

Likely pathogenic

Joubert syndrome 14
TMEM237-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_778823927

2 SubmittersRCV001202447 RCV003413989

NM_014704.4(CEP104):c.2571+6G>A

SNV
Germline

Chr1:3823168

Conflicting classifications of pathogenicity

Joubert syndrome 25
Inborn genetic diseases
CEP104-related disorder

Criteria Provided
Conflicting Classifications

rs_373332298

3 SubmittersRCV001224502 RCV002563054 RCV003918785

NM_014704.4(CEP104):c.278G>A (p.Arg93Gln)

SNV
Germline

Chr1:3848617

Conflicting classifications of pathogenicity

Joubert syndrome 25
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199576006

3 SubmittersRCV001225877 RCV002563087 RCV003456479

NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)

SNV
Germline

Chr8:67103053

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_774703929

1 SubmittersRCV001232522

NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_886042467

2 SubmittersRCV001237935 RCV002504334

NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)

SNV
Germline

Chr16:53637794

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1456208953

3 SubmittersRCV001231979 RCV002497792 RCV004538486

NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)

SNV
Germline

Chr16:53652888

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1966902456

2 SubmittersRCV001231692 RCV002504314

NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp)

SNV
Germline

Chr1:3826714

Conflicting classifications of pathogenicity

Joubert syndrome 25
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_144805659

4 SubmittersRCV001246075 RCV001569592 RCV002568645

NM_014704.4(CEP104):c.932G>A (p.Arg311His)

SNV
Germline

Chr1:3837479

Conflicting classifications of pathogenicity

Joubert syndrome 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_140022279

2 SubmittersRCV001240356 RCV004034648

NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn)

SNV
Germline

Chr5:123390060

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 13 with or without polydactyly
Condition: not provided
Inborn genetic diseases
Joubert syndrome 31

Criteria Provided
Conflicting Classifications

rs_201571160

4 SubmittersRCV001248104 RCV002260694 RCV002568683 RCV003333142

NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val)

SNV
Germline

Chr5:37224586

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

rs_192335673

3 SubmittersRCV001246615 RCV002491834

NM_001134831.2(AHI1):c.1303C>A (p.Arg435=)

SNV
Germline

Chr6:135455775

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

rs_121434349

2 SubmittersRCV001244734 RCV002484356

NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

rs_200969981

8 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004538510 RCV004577955

NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524

NM_018718.3(CEP41):c.423-2A>G

SNV
Germline

Chr7:130402801

Pathogenic

Joubert syndrome 15
Condition: not provided

Criteria Provided
Single Submitter

rs_781815473

3 SubmittersRCV001227158 RCV001573669

NM_001382391.1(CSPP1):c.3331-2A>G

SNV
Germline

Chr8:67193462

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_1836992042

1 SubmittersRCV001231245

NM_001173990.3(TMEM216):c.230-2A>G

SNV
Germline

Chr11:61397772

Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1211592806

2 SubmittersRCV001235530 RCV002480768

NM_001077418.3(TMEM231):c.438+5G>C

SNV
Germline

Chr16:75545821

Likely pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

rs_1472951348

1 SubmittersRCV001247446

NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)

SNV
Germline

Chr6:135457497

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

rs_1789162289

1 SubmittersRCV001250414

NM_003611.3(OFD1):c.2387+1G>A

SNV
Germline

ChrX:13761212

Likely pathogenic

Joubert syndrome 10

No Assertion Criteria Provided

rs_2047914412

1 SubmittersRCV001253756

NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp)

SNV
Germline

Chr5:37239780

Likely pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

rs_1799919744

1 SubmittersRCV001254121

NM_025114.4(CEP290):c.6135+1G>A

SNV
Germline

Chr12:88068521

Pathogenic

Intellectual disability
Joubert syndrome 5

Criteria Provided
Single Submitter

rs_2035114607

1 SubmittersRCV001255342 RCV001262195

NM_003611.3(OFD1):c.599T>C (p.Leu200Pro)

SNV
Not applicable

ChrX:13746400

Pathogenic

Joubert syndrome 10

Criteria Provided
Single Submitter

rs_2047299277

1 SubmittersRCV001255998

NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr14:44963505

Pathogenic

Familial aplasia of the vermis
Joubert syndrome 37

Criteria Provided
Single Submitter

rs_1885329722

3 SubmittersRCV001257978 RCV001293023

NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)

SNV
Germline

Chr14:44963545

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 37
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150433582

4 SubmittersRCV001257976 RCV001293021 RCV001776163

NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)

SNV
Germline

Chr14:45025792

Pathogenic

Familial aplasia of the vermis
Joubert syndrome 37

Criteria Provided
Single Submitter

rs_1463041654

3 SubmittersRCV001258004 RCV001293026

NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)

SNV
Germline

Chr14:45044647

Pathogenic

Familial aplasia of the vermis
Joubert syndrome 37

Criteria Provided
Single Submitter

rs_759684383

3 SubmittersRCV001257977 RCV001293022

NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)

SNV
Germline

Chr4:15586173

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

rs_1720848250

2 SubmittersRCV001261605 RCV003987820

NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)

SNV
Germline

Chr4:15599587

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

rs_1577406415

3 SubmittersRCV001261606 RCV004527417

NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Joubert syndrome 5
Meckel syndrome, type 6

Criteria Provided
Single Submitter

rs_1292516576

1 SubmittersRCV001261602 RCV001261608

NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)

SNV
Germline

Chr4:15557481

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 6
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_563610095

3 SubmittersRCV001880034 RCV002499450 RCV002541585

NM_153704.6(TMEM67):c.2557-3T>G

SNV
Germline

Chr8:93809054

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Joubert syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1808586167

2 SubmittersRCV001262720 RCV001706725 RCV002508797

NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)

SNV
Germline

ChrX:13760636

Conflicting classifications of pathogenicity

Joubert syndrome 10
Familial aplasia of the vermis
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

rs_1260959326

2 SubmittersRCV001262142 RCV003770364

NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)

SNV
Germline

Chr11:125097716

Likely pathogenic

Familial aplasia of the vermis
Meckel syndrome, type 4
Joubert syndrome 39

Criteria Provided
Single Submitter

rs_141744337

3 SubmittersRCV001263490 RCV001263493 RCV001729826

NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)

SNV
Germline

Chr11:125102216

Pathogenic

Familial aplasia of the vermis
Joubert syndrome 39

No Assertion Criteria Provided

rs_1950967763

2 SubmittersRCV001263491 RCV001729827

NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)

SNV
Germline

Chr6:135442666

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_751734985

5 SubmittersRCV001264829 RCV002541620

NM_001329943.3(KIAA0586):c.2255-1G>C

SNV
Germline

Chr14:58467734

Pathogenic

Joubert syndrome 23
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2040876556

2 SubmittersRCV001264820 RCV002508302

NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=)

SNV
Germline

Chr5:37165539

Likely pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

rs_753791198

1 SubmittersRCV001267675

NM_001244189.2(KIAA0586):c.9+1G>A

SNV
Germline

Chr14:58427638

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Conflicting Classifications

rs_1490434047

3 SubmittersRCV001280787 RCV001871620

NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Condition: not provided
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

rs_1292516576

4 SubmittersRCV001283851 RCV002541764 RCV003135916 RCV003989669

NM_001308120.2(TOGARAM1):c.3619C>T (p.Arg1207Ter)

SNV
Germline

Chr14:45028290

Pathogenic

Joubert syndrome 37

No Assertion Criteria Provided

rs_370236552

1 SubmittersRCV001293027

NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)

SNV
Germline

Chr8:93763910

Pathogenic

Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_775716868

2 SubmittersRCV001293702 RCV003770476

NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter)

SNV
Germline

Chr13:72835358

Likely pathogenic

Joubert syndrome 33

Criteria Provided
Single Submitter

rs_751280996

1 SubmittersRCV001782615

NM_001174150.2(ARL13B):c.1067A>G (p.Asn356Ser)

SNV
Germline

Chr3:94049448

Conflicting classifications of pathogenicity

Joubert syndrome 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2077033566

2 SubmittersRCV001295428 RCV002538450

NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val)

SNV
Germline

Chr14:58457918

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_61745095

2 SubmittersRCV001306975 RCV002545002

NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)

SNV
Germline

Chr16:75555866

Likely pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

rs_774091057

1 SubmittersRCV001301852

NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp)

SNV
Germline

Chr5:37227717

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

rs_189796608

5 SubmittersRCV001316335 RCV002493652

NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr)

SNV
Germline

Chr8:67159121

Conflicting classifications of pathogenicity

Joubert syndrome 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376353407

2 SubmittersRCV001324953 RCV004035146

NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr1:3837408

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 25
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

rs_144744629

3 SubmittersRCV001765362 RCV001868445 RCV003155427

NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)

SNV
Germline

Chr2:110131733

Pathogenic

Joubert syndrome with renal defect
Nephronophthisis
Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_547352656

3 SubmittersRCV001332330 RCV001382647 RCV001536104

NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)

SNV
Germline

Chr5:37121756

Pathogenic/Likely pathogenic

Joubert syndrome 17
Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_150242262

3 SubmittersRCV001332491 RCV002286840 RCV002504519

NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)

SNV
Germline

Chr5:37167080

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146595129

6 SubmittersRCV001332488 RCV001586134

NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)

SNV
Germline

Chr6:135431220

Pathogenic

Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_863225146

2 SubmittersRCV001330966

NM_018718.3(CEP41):c.34-2A>G

SNV
Unknown

Chr7:130428020

Pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

rs_1797714974

1 SubmittersRCV001331069

NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter)

SNV
Germline

Chr16:27681512

Likely pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

rs_145247651

1 SubmittersRCV003226808

NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)

SNV
Germline

Chr16:53649029

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_767686118

3 SubmittersRCV001975234 RCV002479591 RCV002469441

NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)

SNV
Germline

Chr16:75555865

Pathogenic/Likely pathogenic

Joubert syndrome 20
Joubert syndrome and related disorders
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080804101

3 SubmittersRCV001329559 RCV003155395 RCV003770819

NM_001044385.3(TMEM237):c.42+1G>A

SNV
Germline

Chr2:201643358

Conflicting classifications of pathogenicity

Joubert syndrome 14
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1378726802

4 SubmittersRCV001335600 RCV003329402

NM_001352754.2(ARMC9):c.100G>T (p.Glu34Ter)

SNV
Germline

Chr2:231208175

Pathogenic

Joubert syndrome 30

Criteria Provided
Single Submitter

rs_1330612935

1 SubmittersRCV001336697

NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)

SNV
Germline

Chr6:135411436

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Joubert syndrome 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201771478

4 SubmittersRCV001342169 RCV002493753 RCV003319466 RCV004035984

NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)

SNV
Germline

Chr2:110123818

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect

Criteria Provided
Conflicting Classifications

rs_151120697

2 SubmittersRCV001371820 RCV002488174

NM_001382391.1(CSPP1):c.958A>G (p.Met320Val)

SNV
Germline

Chr8:67103071

Conflicting classifications of pathogenicity

Joubert syndrome 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_775759544

2 SubmittersRCV001369958 RCV002548633

NM_001134831.2(AHI1):c.2492+5G>A

SNV
Germline

Chr6:135429877

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

rs_2128012406

1 SubmittersRCV001726494

NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)

SNV
Germline

Chr17:19347784

Likely pathogenic

Joubert syndrome 27
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome and related disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_778260923

5 SubmittersRCV001726509 RCV001871960 RCV003230666 RCV003234061

NM_153704.6(TMEM67):c.230C>A (p.Ser77Ter)

SNV
Germline

Chr8:93755784

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

rs_1812544253

1 SubmittersRCV001376183

NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)

SNV
Germline

Chr6:135323255

Pathogenic/Likely pathogenic

Rod-cone dystrophy
Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_761732432

3 SubmittersRCV001376376 RCV002493913 RCV002550234

NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)

SNV
Germline

Chr9:136438674

Conflicting classifications of pathogenicity

Rod-cone dystrophy
Familial aplasia of the vermis
Inborn genetic diseases
Joubert syndrome 1
not specified

Criteria Provided
Conflicting Classifications

rs_550485638

5 SubmittersRCV001376540 RCV001871993 RCV002550959 RCV003147627 RCV003226465

NM_001174150.2(ARL13B):c.689+2T>G

SNV
Germline

Chr3:94036756

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

rs_761785586

1 SubmittersRCV001379589

NM_001384732.1(CPLANE1):c.4482-1G>T

SNV
Germline

Chr5:37183700

Likely pathogenic

Condition: not provided
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_774492992

2 SubmittersRCV001377872 RCV003399194

NM_001382391.1(CSPP1):c.2128+1G>A

SNV
Germline

Chr8:67149936

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_199791452

1 SubmittersRCV001377061

NM_001382391.1(CSPP1):c.2129-2A>G

SNV
Germline

Chr8:67154022

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_2129559034

1 SubmittersRCV001377434

NM_001173990.3(TMEM216):c.137-2A>G

SNV
Germline

Chr11:61393882

Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1858735439

2 SubmittersRCV001377336 RCV004570922

NM_015272.5(RPGRIP1L):c.530-1G>C

SNV
Germline

Chr16:53687966

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151325787

2 SubmittersRCV001376781 RCV002471102

NM_017777.4(MKS1):c.1273+1G>C

SNV
Germline

Chr17:58207893

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 28
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_933577333

5 SubmittersRCV001377156 RCV001548771 RCV002504627 RCV003225970 RCV004570921

NM_017777.4(MKS1):c.959-5C>A

SNV
Germline

Chr17:58210729

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Conflicting Classifications

rs_765242131

3 SubmittersRCV001377798 RCV003152763 RCV003225971

NM_001128178.3(NPHP1):c.1270-1G>A

SNV
Germline

Chr2:110146836

Pathogenic

Nephronophthisis
Condition: not provided
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_376492641

5 SubmittersRCV001390765 RCV001820089 RCV003469780

NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)

SNV
Germline

Chr2:201628129

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_768528861

1 SubmittersRCV001389225

NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)

SNV
Germline

Chr3:94053228

Conflicting classifications of pathogenicity

Joubert syndrome 8
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

rs_779260568

2 SubmittersRCV001389784 RCV001779163

NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)

SNV
Germline

Chr8:67175307

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_760275528

1 SubmittersRCV001380746

NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter)

SNV
Germline

Chr11:61393283

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1304320833

2 SubmittersRCV001386110 RCV004570959

NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1374014119

2 SubmittersRCV001384498 RCV002493927

NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)

SNV
Germline

Chr12:88087884

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis
Condition: not provided
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_779645669

4 SubmittersRCV001381486 RCV001836389 RCV003156344 RCV002476720

NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)

SNV
Germline

Chr16:53652594

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_201081228

2 SubmittersRCV001385484 RCV002476728

NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr16:53658443

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_776941281

4 SubmittersRCV001384296 RCV001562284 RCV002476726

NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter)

SNV
Germline

Chr5:37121739

Pathogenic

Joubert syndrome 1

No Assertion Criteria Provided

rs_377142277

1 SubmittersRCV001730758

NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)

SNV
Germline

Chr12:88068590

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

rs_764861728

2 SubmittersRCV001429116 RCV001839044

NM_001174150.2(ARL13B):c.5T>G (p.Phe2Cys)

SNV
Germline

Chr3:93980428

Conflicting classifications of pathogenicity

Joubert syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_555792435

2 SubmittersRCV001476792 RCV001773754

NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)

SNV
Germline

ChrX:13744496

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

rs_756793358

3 SubmittersRCV001517035 RCV002501798 RCV004037941

NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)

SNV
Unknown

Chr12:88096906

Likely pathogenic

Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

rs_2137423759

1 SubmittersRCV001535856

NM_003611.3(OFD1):c.1411+1G>A

SNV
Unknown

ChrX:13756768

Pathogenic

Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Single Submitter

rs_2147027077

1 SubmittersRCV001535950

NM_001382391.1(CSPP1):c.1698-1G>C

SNV
Germline

Chr8:67131950

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_2129554176

1 SubmittersRCV001542098

NM_015272.5(RPGRIP1L):c.1351-11A>G

SNV
Germline

Chr16:53658475

Pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_750076702

3 SubmittersRCV001543698 RCV003127988 RCV003771669

NM_001082538.3(TCTN1):c.341+1G>A

SNV
Germline

Chr12:110619957

Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_200241085

3 SubmittersRCV001545104 RCV002032552 RCV002471121

NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr12:88129834

Pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138086844

4 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860

NM_001077418.3(TMEM231):c.438+1G>C

SNV
Germline

Chr16:75545825

Pathogenic/Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_1415483600

2 SubmittersRCV001553696 RCV003771697

NM_014804.3(KIAA0753):c.769A>G (p.Arg257Gly)

SNV
Germline

Chr17:6624811

Pathogenic

Joubert syndrome 38

No Assertion Criteria Provided

rs_2150895254

1 SubmittersRCV001559135

NM_014804.3(KIAA0753):c.2359-1G>C

SNV
Germline

Chr17:6595054

Pathogenic

Joubert syndrome 38

No Assertion Criteria Provided

rs_1312865574

1 SubmittersRCV001559136

NM_001329943.3(KIAA0586):c.1254-13T>C

SNV
Germline

Chr14:58456689

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Conflicting Classifications

rs_368443727

2 SubmittersRCV001592175 RCV002070452

NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)

SNV
Germline

Chr8:93804878

Pathogenic

Meckel syndrome, type 3
Joubert syndrome and related disorders
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_201791586

3 SubmittersRCV001844407 RCV002509688 RCV002538533

NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)

SNV
Germline

Chr4:15601348

Likely pathogenic

Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

rs_780190318

2 SubmittersRCV001706785

NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)

SNV
Germline

ChrX:13751343

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Familial aplasia of the vermis
Orofaciodigital syndrome I
Condition: not provided
Joubert syndrome 10

Criteria Provided
Conflicting Classifications

rs_758903488

4 SubmittersRCV001726720 RCV002538677 RCV003130543 RCV002471136

NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)

SNV
Germline

Chr9:26990143

Pathogenic/Likely pathogenic

Joubert syndrome 40
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_150219690

4 SubmittersRCV001731252 RCV002032710 RCV002538705

NM_025103.4(IFT74):c.306-24A>G

SNV
Germline

Chr9:26984233

Pathogenic

Joubert syndrome 40

No Assertion Criteria Provided

rs_2131540908

1 SubmittersRCV001731254

NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)

SNV
Germline

Chr9:26962052

Likely pathogenic

Joubert syndrome 40

Criteria Provided
Single Submitter

rs_751583919

2 SubmittersRCV001731255

NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)

SNV
Germline

Chr9:27016970

Pathogenic/Likely pathogenic

Joubert syndrome 40
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1056125920

3 SubmittersRCV001731256 RCV002539803

NM_014704.4(CEP104):c.2621G>A (p.Arg874His)

SNV
Germline

Chr1:3816321

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_139076247

4 SubmittersRCV001733332 RCV001844410 RCV002032725 RCV002539824

NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)

SNV
Germline

Chr4:15596103

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_529437224

3 SubmittersRCV001768052 RCV001775184 RCV002540665

NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)

SNV
Germline

Chr4:15515919

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

rs_375247004

3 SubmittersRCV001753222 RCV001868722 RCV002478000

NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)

SNV
Germline

Chr8:67112064

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

rs_775285273

2 SubmittersRCV001775247

NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)

SNV
Germline

Chr8:67132075

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_1821344202

1 SubmittersRCV001780585

NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)

SNV
Germline

Chr8:67177712

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_200881715

1 SubmittersRCV001780586

NM_001382391.1(CSPP1):c.2538+1G>T

SNV
Germline

Chr8:67159138

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_2129560295

1 SubmittersRCV001780587

NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr6:135466250

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

rs_774628957

1 SubmittersRCV001783339

NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)

SNV
Germline

Chr6:135457601

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

rs_2128081591

1 SubmittersRCV001783341

NM_001352754.2(ARMC9):c.178-2A>C

SNV
Germline

Chr2:231214829

Likely pathogenic

Joubert syndrome 30
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1248147660

2 SubmittersRCV001785962 RCV002541173

NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)

SNV
Germline

Chr8:93804813

Conflicting classifications of pathogenicity

Joubert syndrome 6
6 conditions
COACH syndrome 1
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_1815059174

4 SubmittersRCV001785366 RCV002478013 RCV002478012 RCV003772169

NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys)

SNV
Germline

Chr14:58512523

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

rs_200127338

4 SubmittersRCV001786702 RCV001868881 RCV003401716

NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)

SNV
Germline

Chr16:75542682

Conflicting classifications of pathogenicity

Joubert syndrome 20
Meckel syndrome, type 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201412708

3 SubmittersRCV002034659 RCV001797435 RCV002544344

NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr5:37224271

Pathogenic/Likely pathogenic

Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1285358729

2 SubmittersRCV001813901 RCV002541495

NM_001329943.3(KIAA0586):c.1957C>T (p.Gln653Ter)

SNV
Germline

Chr14:58461058

Likely pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

rs_2140886548

1 SubmittersRCV001814723

NM_015202.5(KATNIP):c.4133+1G>A

SNV
Germline

Chr16:27770019

Likely pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

rs_2144173006

1 SubmittersRCV001814815

NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)

SNV
Germline

Chr14:58498876

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_531527716

3 SubmittersRCV001819323 RCV002077293 RCV003394273

NM_015631.6(TCTN3):c.770G>A (p.Arg257His)

SNV
Germline

Chr10:95687126

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 18
Orofacial-digital syndrome IV
See cases

Criteria Provided
Conflicting Classifications

rs_758733887

3 SubmittersRCV001817875 RCV002077318 RCV004584450

NM_001329943.3(KIAA0586):c.1657-1G>A

SNV
Germline

Chr14:58459842

Likely pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

rs_2140873364

1 SubmittersRCV001823451

NM_001384732.1(CPLANE1):c.834+1G>A

SNV
Germline

Chr5:37239712

Likely pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

rs_1581014582

1 SubmittersRCV001823705

NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

CEP290-related disorder
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936

NM_001082538.3(TCTN1):c.1494+1G>A

SNV
Germline

Chr12:110645130

Likely pathogenic

Joubert syndrome 13
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_1165243207

2 SubmittersRCV001825289 RCV003772349

NM_015202.5(KATNIP):c.2849C>T (p.Ser950Leu)

SNV
Germline

Chr16:27749809

Conflicting classifications of pathogenicity

Joubert syndrome 26
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_71389806

3 SubmittersRCV001839328 RCV002545224 RCV004041047

NM_001082538.3(TCTN1):c.712+1G>A

SNV
Germline

Chr12:110632560

Likely pathogenic

Joubert syndrome and related disorders
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_200863258

2 SubmittersRCV001844532 RCV002543304

NM_018718.3(CEP41):c.664A>G (p.Ile222Val)

SNV
Germline

Chr7:130400800

Conflicting classifications of pathogenicity

Joubert syndrome 15
CEP41-related disorder

Criteria Provided
Conflicting Classifications

rs_560824415

2 SubmittersRCV001919313 RCV003968635

NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)

SNV
Germline

Chr14:58540097

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_2140098022

1 SubmittersRCV001870451

NM_001173990.3(TMEM216):c.229+1G>A

SNV
Germline

Chr11:61393977

Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135191306

2 SubmittersRCV001987076 RCV003464368

NM_001382391.1(CSPP1):c.1022+1G>T

SNV
Germline

Chr8:67103136

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_2129547115

1 SubmittersRCV002009554

NM_025114.4(CEP290):c.102+2T>G

SNV
Germline

Chr12:88141204

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_763226787

4 SubmittersRCV002027685 RCV003226528 RCV002498073 RCV003471280

NM_001174150.2(ARL13B):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr3:94039962

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

rs_1362774896

1 SubmittersRCV001978984

NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)

SNV
Germline

Chr16:53605599

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

rs_989489575

2 SubmittersRCV002032296 RCV002507837

NM_001382391.1(CSPP1):c.88A>G (p.Met30Val)

SNV
Germline

Chr8:67074340

Conflicting classifications of pathogenicity

Joubert syndrome 21
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199831541

2 SubmittersRCV001996191 RCV003434382

NM_015631.6(TCTN3):c.970-2A>G

SNV
Germline

Chr10:95684626

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

rs_777263669

1 SubmittersRCV002029922

NM_001077418.3(TMEM231):c.140-3C>G

SNV
Germline

Chr16:75555976

Pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Single Submitter

rs_776673877

1 SubmittersRCV001950943

NM_015631.6(TCTN3):c.178G>A (p.Val60Met)

SNV
Germline

Chr10:95693722

Conflicting classifications of pathogenicity

Joubert syndrome 18
Orofacial-digital syndrome IV
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_557962090

2 SubmittersRCV001992007 RCV004045504

NM_001329943.3(KIAA0586):c.411-1486G>A

SNV
Germline

Chr14:58441220

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_982449380

1 SubmittersRCV002049109

NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu)

SNV
Germline

Chr5:37198775

Pathogenic/Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_141153181

3 SubmittersRCV001935562 RCV002503596

NM_001382391.1(CSPP1):c.-116C>T

SNV
Germline

Chr8:67064433

Conflicting classifications of pathogenicity

Joubert syndrome 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371071297

2 SubmittersRCV002013038 RCV004045970

NM_001174150.2(ARL13B):c.554G>A (p.Trp185Ter)

SNV
Germline

Chr3:94036619

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

rs_760756412

1 SubmittersRCV001952265

NM_001329943.3(KIAA0586):c.4495+3767A>T

SNV
Germline

Chr14:58543903

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

rs_2140128191

1 SubmittersRCV001949268

NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)

SNV
Germline

Chr6:135394815

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

rs_750383545

3 SubmittersRCV001891112 RCV003247107 RCV002503508

NM_025114.4(CEP290):c.1359+1G>A

SNV
Germline

Chr12:88120996

Likely pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_935130451

3 SubmittersRCV002017506 RCV002507780 RCV003471253

NM_001128178.3(NPHP1):c.729-2A>G

SNV
Germline

Chr2:110164732

Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_773781058

3 SubmittersRCV002011188 RCV002492327 RCV003471256

NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)

SNV
Germline

Chr10:95685585

Pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_793888508

2 SubmittersRCV001914436 RCV003492701

NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)

SNV
Germline

Chr6:135438430

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1785745572

2 SubmittersRCV001975210 RCV003987946

NM_016464.5(TMEM138):c.377-3C>T

SNV
Germline

Chr11:61368594

Conflicting classifications of pathogenicity

Joubert syndrome 16
TMEM138-related disorder

Criteria Provided
Conflicting Classifications

rs_774110963

2 SubmittersRCV002044699 RCV003956410

NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)

SNV
Germline

Chr14:58461151

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_749475936

2 SubmittersRCV001906886 RCV003492698

NM_001329943.3(KIAA0586):c.2825+1G>A

SNV
Germline

Chr14:58474798

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_2141025675

1 SubmittersRCV002018695

NM_001174150.2(ARL13B):c.436T>G (p.Cys146Gly)

SNV
Germline

Chr3:94035386

Conflicting classifications of pathogenicity

Joubert syndrome 8
not specified

Criteria Provided
Conflicting Classifications

rs_202125140

2 SubmittersRCV002020233 RCV002266087

NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)

SNV
Germline

Chr16:75545399

Pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Single Submitter

rs_2151702587

1 SubmittersRCV001997167

NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)

SNV
Germline

Chr4:15574243

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 9
Joubert syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1022325907

4 SubmittersRCV001919810 RCV002554223 RCV003444065 RCV002463064

NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr2:201636847

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_902145121

1 SubmittersRCV001993335

NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)

SNV
Germline

Chr16:53687896

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_564992297

2 SubmittersRCV001993240 RCV002497860

NM_001382391.1(CSPP1):c.3330+1G>C

SNV
Germline

Chr8:67190760

Likely pathogenic

Joubert syndrome 21
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1045070965

2 SubmittersRCV001995648 RCV003235646

NM_001077418.3(TMEM231):c.582+1G>A

SNV
Germline

Chr16:75545351

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

rs_752141701

1 SubmittersRCV001960707

NM_001329943.3(KIAA0586):c.1129+1G>A

SNV
Germline

Chr14:58450747

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_2140707466

1 SubmittersRCV001979561

NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)

SNV
Germline

Chr10:95693898

Pathogenic/Likely pathogenic

Orofacial-digital syndrome IV
Joubert syndrome 18
Joubert syndrome and related disorders
TCTN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_373479905

3 SubmittersRCV001941559 RCV003323961 RCV004538683

NM_001329943.3(KIAA0586):c.4495+3785A>T

SNV
Germline

Chr14:58543921

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

rs_942756021

1 SubmittersRCV001960503

NM_001382391.1(CSPP1):c.2710+6G>A

SNV
Germline

Chr8:67163804

Conflicting classifications of pathogenicity

Joubert syndrome 21
CSPP1-related disorder

Criteria Provided
Conflicting Classifications

rs_369255080

2 SubmittersRCV001925833 RCV003913444

NM_001128178.3(NPHP1):c.143+1G>C

SNV
Germline

Chr2:110201420

Likely pathogenic

Nephronophthisis
Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_745806504

3 SubmittersRCV001970457 RCV002497908 RCV003471207

NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter)

SNV
Germline

Chr2:201633392

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_2105900861

1 SubmittersRCV001942264

NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)

SNV
Germline

Chr2:201633428

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_1687223389

1 SubmittersRCV001971939

NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr)

SNV
Germline

Chr16:75556206

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

rs_903354438

1 SubmittersRCV001931624

NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr11:61364484

Pathogenic

Joubert syndrome 16

Criteria Provided
Single Submitter

rs_146264153

1 SubmittersRCV001956237

NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)

SNV
Germline

Chr16:75556086

Pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Single Submitter

rs_1197109885

1 SubmittersRCV001956343

NM_001382391.1(CSPP1):c.-69C>T

SNV
Germline

Chr8:67064480

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_1294428066

1 SubmittersRCV002041902

NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)

SNV
Germline

Chr2:201633381

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_565778005

1 SubmittersRCV001925309

NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)

SNV
Germline

Chr14:58488673

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Joubert syndrome 23

Criteria Provided
Multiple Submitters
No Conflicts

rs_373763986

2 SubmittersRCV001947018 RCV003992592

NM_014875.3(KIF14):c.3661+1G>T

SNV
Germline

Chr1:200569910

Likely pathogenic

Condition: not provided
Joubert syndrome and related disorders
KIF14-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_151249558

3 SubmittersRCV002005870 RCV003155454 RCV003408047

NM_015272.5(RPGRIP1L):c.2874+1G>C

SNV
Germline

Chr16:53641284

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_753075262

2 SubmittersRCV002005878 RCV003226520

NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)

SNV
Germline

Chr17:58213856

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143800757

2 SubmittersRCV001883884 RCV002307778

NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)

SNV
Germline

Chr2:110168477

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373951297

3 SubmittersRCV002049316 RCV002489940 RCV002545704

NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)

SNV
Germline

Chr14:58428390

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_1301378192

1 SubmittersRCV001883674

NM_018718.3(CEP41):c.278-1G>A

SNV
Germline

Chr7:130404709

Likely pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

rs_1796956272

1 SubmittersRCV002002640

NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter)

SNV
Germline

Chr8:67137462

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_1225726214

1 SubmittersRCV001949545

NM_015272.5(RPGRIP1L):c.2958+1G>T

SNV
Germline

Chr16:53641032

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151056579

2 SubmittersRCV002018582 RCV002498050

NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)

SNV
Germline

Chr14:58428289

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_2140372917

1 SubmittersRCV002042120

NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)

SNV
Germline

Chr4:15540843

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

rs_763596840

2 SubmittersRCV001863471 RCV002272505

NM_001329943.3(KIAA0586):c.411-1371G>A

SNV
Germline

Chr14:58441335

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_2038350104

1 SubmittersRCV001987098

NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile)

SNV
Germline

Chr5:37168870

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369361493

3 SubmittersRCV001896274 RCV002482724 RCV004041459

NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)

SNV
Germline

Chr2:110131704

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Conflicting Classifications

rs_1266229950

2 SubmittersRCV001984761 RCV002484661

NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr)

SNV
Germline

Chr10:95684534

Conflicting classifications of pathogenicity

Orofacial-digital syndrome IV
Joubert syndrome 18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765375312

2 SubmittersRCV001983427 RCV003170426

NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)

SNV
Germline

Chr2:201629730

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

rs_2105899169

1 SubmittersRCV002009964

NM_015631.6(TCTN3):c.1203+1G>C

SNV
Germline

Chr10:95683521

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

rs_1221992171

1 SubmittersRCV002043471

NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter)

SNV
Germline

Chr12:110634693

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_748215804

2 SubmittersRCV001940214 RCV002300621

NM_001382391.1(CSPP1):c.1497-2A>C

SNV
Germline

Chr8:67118246

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

rs_766633448

1 SubmittersRCV001998063

NM_001329943.3(KIAA0586):c.4324-2A>G

SNV
Germline

Chr14:58512520

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_763815640

1 SubmittersRCV001983504

NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)

SNV
Germline

Chr6:135466282

Conflicting classifications of pathogenicity

Joubert syndrome 3
Familial aplasia of the vermis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373490556

3 SubmittersRCV002498064 RCV002041018 RCV003348766

NM_001329943.3(KIAA0586):c.1885-2A>G

SNV
Germline

Chr14:58460984

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_1431898844

1 SubmittersRCV002038452

NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu)

SNV
Germline

Chr14:58547913

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_767347007

2 SubmittersRCV002208510 RCV003089099

NM_006346.4(PIBF1):c.1888A>G (p.Ile630Val)

SNV
Germline

Chr13:72965328

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 33

Criteria Provided
Conflicting Classifications

rs_11544631

2 SubmittersRCV002219446 RCV003388623

NM_014704.4(CEP104):c.2662+10A>T

SNV
Germline

Chr1:3816270

Conflicting classifications of pathogenicity

Joubert syndrome 25
CEP104-related disorder

Criteria Provided
Conflicting Classifications

rs_552644535

3 SubmittersRCV002108744 RCV003933536

NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln)

SNV
Germline

Chr1:3836586

Conflicting classifications of pathogenicity

Joubert syndrome 25
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143501631

2 SubmittersRCV002174986 RCV003234166

NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)

SNV
Germline

Chr16:75545865

Conflicting classifications of pathogenicity

Joubert syndrome 20
Meckel syndrome, type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_534627748

2 SubmittersRCV002139018 RCV003138095

NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)

SNV
Germline

Chr16:75556173

Conflicting classifications of pathogenicity

Joubert syndrome 20
Meckel syndrome, type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775329522

2 SubmittersRCV002154512 RCV002272570

NM_001258244.2(TMEM218):c.111G>T (p.Arg37Ser)

SNV
Unknown

Chr11:125101303

Likely pathogenic

Joubert syndrome 39

Criteria Provided
Single Submitter

rs_1248550491

1 SubmittersRCV002223152

NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)

SNV
Germline

Chr2:201629770

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

rs_2105899200

1 SubmittersRCV002238587

NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)

SNV
Germline

Chr9:136430326

Pathogenic/Likely pathogenic

Joubert syndrome and related disorders
Familial aplasia of the vermis
INPP5E-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_763992407

3 SubmittersRCV002238656 RCV003598066 RCV004529107

NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter)

SNV
Germline

Chr2:231781069

Pathogenic

Joubert syndrome 22

No Assertion Criteria Provided

rs_2106294164

1 SubmittersRCV002244302

NM_015681.6(B9D1):c.529G>C (p.Asp177His)

SNV
Germline

Chr17:19343405

Likely pathogenic

Meckel syndrome, type 9
Joubert syndrome 27

Criteria Provided
Single Submitter

rs_1309922077

1 SubmittersRCV002248480

NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)

SNV
Germline

Chr17:58206472

Pathogenic/Likely pathogenic

Joubert syndrome 28
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143737457

2 SubmittersRCV002250888 RCV003094072

NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter)

SNV
Germline

Chr1:3829955

Pathogenic/Likely pathogenic

See cases
Joubert syndrome 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_750473230

2 SubmittersRCV002252623 RCV002300657

NM_001308120.2(TOGARAM1):c.4150C>T (p.Gln1384Ter)

SNV
Germline

Chr14:45044866

Likely pathogenic

Joubert syndrome 37

Criteria Provided
Single Submitter

1 SubmittersRCV002280237

NM_001308120.2(TOGARAM1):c.2338+3A>G

SNV
Germline

Chr14:44999500

Likely pathogenic

Joubert syndrome 37

Criteria Provided
Single Submitter

1 SubmittersRCV002280923

NM_001128178.3(NPHP1):c.144-1G>A

SNV
Germline

Chr2:110179685

Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002282819 RCV003471306 RCV003586324

NM_001382391.1(CSPP1):c.1187+1G>A

SNV
Germline

Chr8:67112066

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV002283870

NM_015631.6(TCTN3):c.969+2T>G

SNV
Germline

Chr10:95685554

Likely pathogenic

Joubert syndrome 18

Criteria Provided
Single Submitter

1 SubmittersRCV002289211

NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)

SNV
Germline

Chr1:3848733

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV002308552

NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)

SNV
Unknown

Chr17:58210989

Likely pathogenic

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Single Submitter

1 SubmittersRCV002309653

NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)

SNV
Unknown

Chr17:58216686

Likely pathogenic

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Single Submitter

1 SubmittersRCV002309772

NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)

SNV
Unknown

Chr17:58210674

Likely pathogenic

Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV002308194

NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)

SNV
Unknown

Chr17:58213058

Likely pathogenic

Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV002308198

NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr17:58206475

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002309374 RCV003099156 RCV003152794

NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)

SNV
Unknown

Chr17:58213008

Likely pathogenic

Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV002307008

NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)

SNV
Unknown

Chr17:58207109

Likely pathogenic

Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002310507

NM_001352754.2(ARMC9):c.2261+1G>A

SNV
Germline

Chr2:231360884

Conflicting classifications of pathogenicity

Joubert syndrome 30
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002308474 RCV003099162

NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)

SNV
Germline

Chr16:75545390

Pathogenic

Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002464853 RCV003775485

NM_015631.6(TCTN3):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:95693899

Pathogenic/Likely pathogenic

Joubert syndrome 18
Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002468883 RCV002571430

NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)

SNV
Germline

Chr5:37167069

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

1 SubmittersRCV002471473

NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)

SNV
Germline

Chr9:136430317

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002471799

NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)

SNV
Germline

Chr4:15557388

Pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV002472136

NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)

SNV
Germline

Chr8:67093592

Conflicting classifications of pathogenicity

Joubert syndrome 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003062764 RCV003294429

NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)

SNV
Germline

Chr2:201629374

Pathogenic/Likely pathogenic

Joubert syndrome 14
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003060895 RCV003155510

NM_001128178.3(NPHP1):c.771+58C>T

SNV
Germline

Chr2:110164630

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465966 RCV003088842

NM_001329943.3(KIAA0586):c.1884+1G>T

SNV
Germline

Chr14:58460071

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV002588660

NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)

SNV
Germline

Chr2:231738097

Pathogenic

Joubert syndrome 22

Criteria Provided
Single Submitter

1 SubmittersRCV002595758

NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg)

SNV
Germline

Chr3:94003751

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV002651718

NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)

SNV
Germline

Chr5:37183014

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV002510321

NM_153704.6(TMEM67):c.1132-2A>G

SNV
Germline

Chr8:93785220

Likely pathogenic

Joubert syndrome and related disorders
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510413 RCV003775563

NM_153704.6(TMEM67):c.223+1G>C

SNV
Germline

Chr8:93755138

Likely pathogenic

Joubert syndrome and related disorders
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510414 RCV003775564

NM_014704.4(CEP104):c.1485+1G>A

SNV
Germline

Chr1:3834924

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV002510438

NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)

SNV
Germline

Chr7:130400156

Pathogenic/Likely pathogenic

Joubert syndrome 15
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002510731 RCV002571602

NM_001329943.3(KIAA0586):c.807+1G>T

SNV
Germline

Chr14:58444176

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003110896

NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)

SNV
Germline

Chr3:132701527

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003108974 RCV003111793

NM_001329943.3(KIAA0586):c.2945-1G>C

SNV
Germline

Chr14:58482512

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV002512459

NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)

SNV
Germline

Chr9:26984309

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 40

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002625958 RCV003147778

NM_001329943.3(KIAA0586):c.341-2A>G

SNV
Germline

Chr14:58432386

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV002690504

NM_018718.3(CEP41):c.757+2T>A

SNV
Germline

Chr7:130400705

Likely pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

1 SubmittersRCV002696155

NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)

SNV
Germline

Chr11:61367933

Pathogenic

Joubert syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV002785471

NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)

SNV
Germline

Chr14:58487073

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV002820645

NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)

SNV
Germline

Chr14:58508707

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV002871042

NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)

SNV
Germline

Chr8:67163757

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV002851901

NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)

SNV
Germline

Chr8:67158471

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV002833541

NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)

SNV
Germline

Chr14:58490186

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV002833576

NM_001382391.1(CSPP1):c.1188-2A>G

SNV
Germline

Chr8:67113803

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV002880859

NM_001134831.2(AHI1):c.3426+2T>C

SNV
Germline

Chr6:135318517

Likely pathogenic

Familial aplasia of the vermis
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002881396 RCV003492784

NM_001382391.1(CSPP1):c.100-2A>C

SNV
Germline

Chr8:67076480

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV002876211

NM_001044385.3(TMEM237):c.396-2A>G

SNV
Germline

Chr2:201632210

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

1 SubmittersRCV002862535

NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)

SNV
Germline

Chr14:58512618

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV002868034

NM_015631.6(TCTN3):c.2T>C (p.Met1Thr)

SNV
Germline

Chr10:95693898

Pathogenic

Orofacial-digital syndrome IV
Joubert syndrome 18

Criteria Provided
Single Submitter

1 SubmittersRCV002889728

NM_001174150.2(ARL13B):c.538A>T (p.Lys180Ter)

SNV
Germline

Chr3:94036603

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV002894458

NM_001382391.1(CSPP1):c.3221-1G>A

SNV
Germline

Chr8:67190649

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV002877521

NM_001174150.2(ARL13B):c.1141+1G>A

SNV
Germline

Chr3:94049523

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV002919045

NM_001077418.3(TMEM231):c.-37G>A

SNV
Germline

Chr16:75556246

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

1 SubmittersRCV002927914

NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)

SNV
Germline

Chr1:3848732

Pathogenic

Joubert syndrome 25

Criteria Provided
Single Submitter

1 SubmittersRCV002962717

NM_001382391.1(CSPP1):c.1828-1G>C

SNV
Germline

Chr8:67137455

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV002996306

NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)

SNV
Germline

Chr14:58512571

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003029236

NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)

SNV
Germline

Chr8:67093600

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV003057104

NM_006346.4(PIBF1):c.1124A>G (p.Asn375Ser)

SNV
Germline

Chr13:72835269

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome 33
PIBF1-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002753411 RCV003135272 RCV003919003

NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr16:53692156

Likely pathogenic

Joubert syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV002790012

NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)

SNV
Germline

Chr5:37226575

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003123522

NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)

SNV
Germline

Chr4:15589595

Likely pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV003128098

NM_001382391.1(CSPP1):c.3330+2T>C

SNV
Germline

Chr8:67190761

Conflicting classifications of pathogenicity

Joubert syndrome 21

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003143380

NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)

SNV
Germline

Chr6:135438426

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003155656

NM_001174150.2(ARL13B):c.59+1G>A

SNV
Germline

Chr3:93980483

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003155668

NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)

SNV
Germline

Chr1:200600438

Conflicting classifications of pathogenicity

Joubert syndrome and related disorders
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003155814 RCV003238924

NM_001128178.3(NPHP1):c.1083+1G>A

SNV
Germline

Chr2:110160126

Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003155856 RCV003466028

NM_014804.3(KIAA0753):c.2333T>C (p.Met778Thr)

SNV
Germline

Chr17:6596183

Likely pathogenic

Joubert syndrome 38

Criteria Provided
Single Submitter

1 SubmittersRCV003225651

NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)

SNV
Germline

Chr3:94043192

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003226613

NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)

SNV
Germline

Chr16:53686559

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003226809

NM_001384732.1(CPLANE1):c.1122-2A>G

SNV
Germline

Chr5:37227819

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003226844

NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)

SNV
Germline

Chr10:73232994

Likely pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

1 SubmittersRCV003233410

NM_153704.6(TMEM67):c.1771A>G (p.Lys591Glu)

SNV
Germline

Chr8:93795505

Likely pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

1 SubmittersRCV003331567

NM_001082538.3(TCTN1):c.1494+2T>C

SNV
Germline

Chr12:110645131

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003331775

NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)

SNV
Germline

Chr5:37121705

Pathogenic

Joubert syndrome and related disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003331844 RCV003561305

NM_153704.6(TMEM67):c.2323-2A>G

SNV
Germline

Chr8:93804760

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

1 SubmittersRCV003332932

NM_001134831.2(AHI1):c.2266+1G>A

SNV
Germline

Chr6:135433026

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV003335818

NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)

SNV
Germline

ChrX:13760432

Likely pathogenic

Joubert syndrome 10

No Assertion Criteria Provided

1 SubmittersRCV003337711

NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)

SNV
Germline

Chr8:93765414

Conflicting classifications of pathogenicity

Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003397210 RCV003778173

NM_001077418.3(TMEM231):c.664+1G>A

SNV
Germline

Chr16:75542601

Conflicting classifications of pathogenicity

TMEM231-related disorder
Joubert syndrome 20

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003402990 RCV003988892

NM_001384732.1(CPLANE1):c.7588+3A>G

SNV
Germline

Chr5:37164270

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003444088

NM_001329943.3(KIAA0586):c.887A>G (p.Tyr296Cys)

SNV
Germline

Chr14:58448419

Likely pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003447455

NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)

SNV
Unknown

Chr2:110146800

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471527

NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)

SNV
Unknown

Chr2:110201425

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471528

NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)

SNV
Unknown

Chr2:110179677

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471530

NM_001128178.3(NPHP1):c.1643-2A>G

SNV
Unknown

Chr2:110129261

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471531

NM_001128178.3(NPHP1):c.625-2A>G

SNV
Unknown

Chr2:110165157

Pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471532

NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)

SNV
Unknown

Chr2:110161675

Pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471533

NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)

SNV
Unknown

Chr2:110165056

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471534

NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)

SNV
Unknown

Chr2:110146834

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471535

NM_001128178.3(NPHP1):c.1270-2A>G

SNV
Germline

Chr2:110146837

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471536 RCV003748496

NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)

SNV
Unknown

Chr2:110161622

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471541

NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr2:110201437

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463185 RCV003586427

NM_001128178.3(NPHP1):c.1084-2A>C

SNV
Unknown

Chr2:110150258

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471543

NM_001128178.3(NPHP1):c.1643-1G>C

SNV
Unknown

Chr2:110129260

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003463186

NM_001128178.3(NPHP1):c.771+124C>T

SNV
Germline

Chr2:110164564

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471545 RCV003748497

NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)

SNV
Unknown

Chr2:110125674

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471546

NM_001128178.3(NPHP1):c.1352+2T>G

SNV
Unknown

Chr2:110146751

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471547

NM_001128178.3(NPHP1):c.69+1G>T

SNV
Unknown

Chr2:110204899

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471548

NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)

SNV
Unknown

Chr2:110163065

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV003471549

NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)

SNV
Unknown

Chr11:61393282

Likely pathogenic

Joubert syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003466449

NM_001173990.3(TMEM216):c.229+1G>C

SNV
Unknown

Chr11:61393977

Likely pathogenic

Joubert syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003466450

NM_001173990.3(TMEM216):c.34+1G>A

SNV
Unknown

Chr11:61392666

Likely pathogenic

Joubert syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003464694

NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)

SNV
Unknown

Chr11:61393308

Likely pathogenic

Joubert syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003464696

NM_015202.5(KATNIP):c.3632-1G>C

SNV
Germline

Chr16:27761412

Likely pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

1 SubmittersRCV003493233

NM_006346.4(PIBF1):c.1731-1G>A

SNV
Germline

Chr13:72931164

Likely pathogenic

Joubert syndrome 33

Criteria Provided
Single Submitter

1 SubmittersRCV003493336

NM_018718.3(CEP41):c.98-2A>G

SNV
Germline

Chr7:130416968

Likely pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

1 SubmittersRCV003529792

NM_001382391.1(CSPP1):c.483+2T>A

SNV
Germline

Chr8:67093643

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV003744165

NM_001382391.1(CSPP1):c.1022+1G>C

SNV
Germline

Chr8:67103136

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV003744422

NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)

SNV
Germline

Chr8:67095662

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV003743175

NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)

SNV
Germline

Chr8:67154101

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV003743198

NM_001329943.3(KIAA0586):c.2634+1G>T

SNV
Germline

Chr14:58472280

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003785490

NM_015631.6(TCTN3):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr10:95693872

Pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV003784362

NM_001329943.3(KIAA0586):c.200-2A>G

SNV
Germline

Chr14:58429361

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003795784

NM_001329943.3(KIAA0586):c.961+1G>A

SNV
Germline

Chr14:58448494

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003783215

NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)

SNV
Germline

Chr14:58458543

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003795302

NM_001329943.3(KIAA0586):c.3991-1G>A

SNV
Germline

Chr14:58498782

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003798301

NM_015631.6(TCTN3):c.737-1G>C

SNV
Germline

Chr10:95687160

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV003792379

NM_015631.6(TCTN3):c.2T>A (p.Met1Lys)

SNV
Germline

Chr10:95693898

Pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV003806525

NM_001329943.3(KIAA0586):c.1130-2A>G

SNV
Germline

Chr14:58453348

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003791078

NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)

SNV
Germline

Chr14:58467737

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003805690

NM_015631.6(TCTN3):c.853-2A>G

SNV
Germline

Chr10:95686532

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV003798618

NM_001329943.3(KIAA0586):c.271-1G>A

SNV
Germline

Chr14:58430647

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003797162

NM_001329943.3(KIAA0586):c.2254+1G>T

SNV
Germline

Chr14:58466030

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003799280

NM_001077418.3(TMEM231):c.33C>A (p.Val11=)

SNV
Germline

Chr16:75556177

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

1 SubmittersRCV003803019

NM_001329943.3(KIAA0586):c.3144+1G>A

SNV
Germline

Chr14:58482713

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003794811

NM_001329943.3(KIAA0586):c.3144+2T>C

SNV
Germline

Chr14:58482714

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003800804

NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)

SNV
Germline

Chr14:58498804

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003817867

NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)

SNV
Germline

Chr14:58429398

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003809500

NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)

SNV
Germline

Chr14:58488063

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003801627

NM_001329943.3(KIAA0586):c.1253+1G>A

SNV
Germline

Chr14:58453474

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV003805154

NM_001382391.1(CSPP1):c.-10-1G>T

SNV
Germline

Chr8:67074242

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV003843482

NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)

SNV
Germline

Chr8:67164421

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV003868847

NM_001174150.2(ARL13B):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr3:94039899

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV003873350

NM_001082538.3(TCTN1):c.1635+1G>A

SNV
Germline

Chr12:110647337

Likely pathogenic

Joubert syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV003984992

NM_001044385.3(TMEM237):c.137-2A>G

SNV
Germline

Chr2:201636887

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

1 SubmittersRCV003988673

NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)

SNV
Germline

Chr10:73234866

Likely pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

1 SubmittersRCV003990217

NM_019892.6(INPP5E):c.136G>T (p.Glu46Ter)

SNV
Germline

Chr9:136439284

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003990086

NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)

SNV
Germline

Chr9:136431931

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003990940

NM_001077418.3(TMEM231):c.538C>T (p.Gln180Ter)

SNV
Germline

Chr16:75545396

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV003994985

NM_001044385.3(TMEM237):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr2:201632117

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

1 SubmittersRCV004555395

NM_001382391.1(CSPP1):c.385-2A>G

SNV
Germline

Chr8:67093541

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV004555776

NM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter)

SNV
Unknown

Chr10:73233009

Pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

1 SubmittersRCV004560473

NM_173348.2(FAM149B1):c.1127+1G>A

SNV
Unknown

Chr10:73230526

Pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

1 SubmittersRCV004560508

NM_001128178.3(NPHP1):c.1304G>A (p.Trp435Ter)

SNV
Unknown

Chr2:110146801

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV004574367

NM_001128178.3(NPHP1):c.1156C>T (p.Gln386Ter)

SNV
Unknown

Chr2:110150184

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV004574369