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 Meckel syndrome, type 2 Condition: not provided Joubert syndrome Inborn genetic diseases TMEM216-related disorder Joubert syndrome 2 Meckel syndrome, type 2	Criteria Provided Multiple Submitters No Conflicts	CA339800	rs_201108965	19 SubmittersRCV000000220 RCV000409114 RCV000255378 RCV000465185 RCV000624413 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 Joubert syndrome Joubert syndrome 2 Meckel syndrome, type 2	Criteria Provided Multiple Submitters No Conflicts	CA129626	rs_201108965	6 SubmittersRCV000000221 RCV000024013 RCV001038780 RCV005049302
NM_019892.6(INPP5E):c.1879C>T (p.Gln627Ter)	SNV Germline	Chr9:136429731	Pathogenic	MORM syndrome MORM syndrome Joubert syndrome 1	Criteria Provided Single Submitter	CA114238	rs_121918127	2 SubmittersRCV000000427 RCV005041961
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)	SNV Germline	Chr9:136431830	Pathogenic/Likely pathogenic	Joubert syndrome 1 Joubert syndrome Joubert syndrome 1 MORM syndrome	Criteria Provided Multiple Submitters No Conflicts	CA259595	rs_13297509	4 SubmittersRCV000022402 RCV001851510 RCV005049303
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)	SNV Germline	Chr9:136430391	Likely pathogenic	Joubert syndrome 1 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA259596	rs_121918128	3 SubmittersRCV000022403 RCV004700175
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)	SNV Germline	Chr9:136432562	Pathogenic/Likely pathogenic	Joubert syndrome 1 Joubert syndrome Retinal dystrophy Condition: not provided INPP5E-related disorder not specified Joubert syndrome 1 MORM syndrome	Criteria Provided Multiple Submitters No Conflicts	CA259597	rs_121918129	9 SubmittersRCV000022404 RCV000201569 RCV001073387 RCV003144102 RCV004755693 RCV003488316 RCV005049304
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	SNV Germline	Chr9:136433182	Pathogenic/Likely pathogenic	Joubert syndrome 1 Inborn genetic diseases Joubert syndrome and related disorders Joubert syndrome 16 conditions INPP5E-related disorder Condition: not provided MORM syndrome Joubert syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA259598	rs_121918130	8 SubmittersRCV000022405 RCV001267543 RCV002265543 RCV000636941 RCV000735369 RCV004532266 RCV001550720 RCV005394101
NM_001378615.1(CC2D2A):c.2338+1G>C	SNV Germline	Chr4:15550981	Pathogenic	Joubert syndrome 9	No Assertion Criteria Provided	CA356417595	rs_2109050324	1 SubmittersRCV000000777
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)	SNV Germline	Chr4:15537074	Pathogenic	Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2863751	rs_116358011	4 SubmittersRCV000000778 RCV001385996 RCV005024978 RCV005409592
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 Joubert syndrome	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 Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder Joubert syndrome 9 Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA114471	rs_118204052	9 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV003764503 RCV004532267 RCV005031374
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)	SNV Germline	Chr4:15559183	Pathogenic	Joubert syndrome 9 Condition: not provided Inborn genetic diseases Meckel-Gruber syndrome Joubert syndrome CC2D2A-related disorder Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA114473	rs_118204053	9 SubmittersRCV000000781 RCV000727257 RCV001266487 RCV002512617 RCV004528061 RCV005222657
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)	SNV Germline	Chr4:15563485	Pathogenic	COACH syndrome 2 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 9/15, digenic Condition: not provided Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 See cases Inborn genetic diseases Meckel syndrome, type 6 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA129544	rs_386833750	8 SubmittersRCV000000783 RCV000199602 RCV000023922 RCV000578695 RCV002476904 RCV002251848 RCV005305943 RCV004795365
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)	SNV Germline	Chr4:15567735	Conflicting classifications of pathogenicity	COACH syndrome 2 Condition: not provided Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA210343	rs_267606709	6 SubmittersRCV000000784 RCV000729670 RCV000201781 RCV001383566 RCV005031375
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)	SNV Germline	Chr16:53686512	Pathogenic	Joubert syndrome 7 RPGRIP1L-related disorder Meckel-Gruber syndrome Joubert syndrome Joubert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251686	rs_121918197	5 SubmittersRCV000001123 RCV000367935 RCV001385849 RCV001831499 RCV001781156
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	SNV Germline	Chr16:53652844	Pathogenic	Joubert syndrome 7 Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5 RPGRIP1L-related disorder Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA251689	rs_121918198	8 SubmittersRCV000001124 RCV000689745 RCV000393725 RCV001271279 RCV002482812 RCV004528062 RCV003155007
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	SNV Germline	Chr16:53686452	Pathogenic	Joubert syndrome 7 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome Joubert syndrome and related disorders Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA251691	rs_121918199	5 SubmittersRCV000001125 RCV001067857 RCV001831500 RCV003398409 RCV005016221
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)	SNV Germline	Chr16:53652604	Pathogenic/Likely pathogenic	Joubert syndrome 7 Joubert syndrome	No Assertion Criteria Provided	CA251694	rs_121918200	2 SubmittersRCV000001126 RCV005606630
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter)	SNV Germline	Chr16:53692201	Pathogenic	Meckel syndrome, type 5 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA114729	rs_121918201	2 SubmittersRCV000001127 RCV001042174
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)	SNV Germline	Chr16:53671580	Pathogenic	Meckel syndrome, type 5 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA114732	rs_121918202	2 SubmittersRCV000001128 RCV003764506
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV Germline	Chr16:53645694	Pathogenic/Likely pathogenic	Meckel syndrome, type 5 Condition: not provided Meckel-Gruber syndrome Joubert syndrome COACH syndrome 1 Joubert syndrome 7 Meckel syndrome, type 5 RPGRIP1L-related disorder Joubert syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3 Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA130771	rs_121918203	7 SubmittersRCV000033207 RCV000790748 RCV001059320 RCV000762961 RCV000779628 RCV001831501 RCV005007803 RCV004017218
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV Germline	Chr16:53652637	Pathogenic/Likely pathogenic	Joubert syndrome 7 Joubert syndrome 7 COACH syndrome 1 Meckel syndrome, type 5 Meckel-Gruber syndrome Joubert syndrome Condition: not provided Joubert syndrome Abnormality of prenatal development or birth COACH syndrome 3 Joubert syndrome 7 Meckel syndrome, type 5	Criteria Provided Multiple Submitters No Conflicts	CA251696	rs_121918204	10 SubmittersRCV000001131 RCV000762962 RCV000824619 RCV001781157 RCV001271277 RCV001813927 RCV005007804
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV Germline	Chr16:53645895	Pathogenic	COACH syndrome 3 Joubert syndrome 7 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA210648	rs_145665129	7 SubmittersRCV000001134 RCV000201645 RCV000733537 RCV001831502 RCV001382825 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 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Retinitis pigmentosa Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 6 Leber congenital amaurosis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 COG7 congenital disorder of glycosylation Abnormality of the nervous system Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	31 SubmittersRCV000001396 RCV000086298 RCV000531295 RCV000114202 RCV001073790 RCV000787813 RCV000515339 RCV001261607 RCV001276487 RCV001000092 RCV001002714 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV004798711 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 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA227962	rs_62635288	6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001851540 RCV001328051
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Retinitis pigmentosa Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 1 Retinal dystrophy Intellectual disability Joubert syndrome 5 CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV000988884 RCV001075828 RCV001255341 RCV001196010 RCV001731267 RCV001831503 RCV003460403
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)	SNV Germline	Chr12:88111320	Pathogenic	Leber congenital amaurosis 10 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA339890	rs_137852833	3 SubmittersRCV000001401 RCV001851541 RCV003466777
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Retinal dystrophy Blindness Nystagmus Central hypotonia Molar tooth sign on MRI Senior-Loken syndrome 6 Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related ciliopathy Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	22 SubmittersRCV000001402 RCV000001403 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV000415219 RCV000415120 RCV001002715 RCV001831504 RCV001046610 RCV003492281 RCV003466778 RCV003155008 RCV004975257
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Polycystic kidney disease Severe hydrocephalus Encephalocele Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis 10 Condition: not provided Retinal dystrophy Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003887847 RCV002496228 RCV003466779 RCV004732519
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 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA251753	rs_267606719	4 SubmittersRCV000001410 RCV000201631 RCV001261609 RCV004760315
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)	SNV Germline	Chr8:93791282	Pathogenic/Likely pathogenic	Joubert syndrome 6 COACH syndrome 1 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome and related disorders 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA210653	rs_137853107	5 SubmittersRCV000001436 RCV000001437 RCV001851544 RCV004585980 RCV005049307
NM_153704.6(TMEM67):c.2439+5G>C	SNV Germline	Chr8:93804883	Pathogenic	Joubert syndrome 6 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA4808296	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 Meckel-Gruber syndrome Joubert syndrome TMEM67-related disorder Joubert syndrome and related disorders	Criteria Provided Conflicting Classifications	CA213073	rs_199821258	10 SubmittersRCV000001439 RCV000050199 RCV001698938 RCV001851545 RCV004732520 RCV002281687
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu)	SNV Germline	Chr8:93793256	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251766	rs_267607114	2 SubmittersRCV002512642 RCV004808544
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 Meckel-Gruber syndrome Joubert syndrome TMEM67-related disorder Condition: not provided RHYNS syndrome Joubert syndrome and related disorders 6 conditions Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA114963	rs_137853108	21 SubmittersRCV000001443 RCV000001442 RCV000468558 RCV000334857 RCV000494327 RCV000723362 RCV002298428 RCV002490291 RCV003242959
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-Gruber syndrome Joubert syndrome Meckel syndrome, type 3 Nephronophthisis 11 COACH syndrome 1 not specified TMEM67-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA114968	rs_111619594	15 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001085857 RCV001158405 RCV001158406 RCV001333012 RCV003488318 RCV004528064 RCV005394103
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	SNV Germline	Chr8:93808898	Pathogenic/Likely pathogenic	COACH syndrome 1 Joubert syndrome 6 Meckel syndrome, type 3 Joubert syndrome and related disorders 6 conditions Nephronophthisis 11 COACH syndrome 1 Joubert syndrome 6 RHYNS syndrome Joubert syndrome Meckel-Gruber syndrome Condition: not provided TMEM67-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210657	rs_267607119	13 SubmittersRCV000001445 RCV000001446 RCV000995902 RCV001804708 RCV001536092 RCV005357054 RCV000821785 RCV001310635 RCV003315221
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.312+5G>A	SNV Germline	Chr8:93755871	Pathogenic	COACH syndrome 1 Meckel-Gruber syndrome Joubert syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA212770	rs_786200868	3 SubmittersRCV000001448 RCV001388801 RCV002496229
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)	SNV Germline	Chr8:93795503	Pathogenic/Likely pathogenic	COACH syndrome 1 Joubert syndrome 6 Condition: not provided Meckel-Gruber syndrome Joubert syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA210661	rs_267607115	8 SubmittersRCV000001449 RCV000201677 RCV001781164 RCV001851546 RCV005049308
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 Meckel-Gruber syndrome Joubert syndrome Oligohydramnios Joubert syndrome Renal cyst Condition: not provided Inborn genetic diseases 14 conditions Joubert syndrome 6 COACH syndrome 1 Bardet-Biedl syndrome 14 Nephronophthisis 11 Meckel syndrome, type 3 RHYNS syndrome 6 conditions Joubert syndrome 6 COACH syndrome 1 RHYNS syndrome Nephronophthisis 11	Criteria Provided Multiple Submitters No Conflicts	CA114977	rs_201893408	17 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000534533 RCV000415055 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497 RCV005041963 RCV005357055
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 Meckel-Gruber syndrome Joubert 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/Likely pathogenic	Joubert syndrome 6 Nephronophthisis Condition: not provided Meckel-Gruber syndrome Joubert syndrome 6 conditions Joubert syndrome and related disorders TMEM67-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA251773	rs_202149403	14 SubmittersRCV000001457 RCV000234813 RCV000418247 RCV001389251 RCV002490292 RCV004689399 RCV004732521
NM_017777.4(MKS1):c.80+2T>C	SNV Germline	Chr17:58219149	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28	No Assertion Criteria Provided	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 Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Condition: not provided MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342696	rs_199874059	8 SubmittersRCV000022414 RCV001038005 RCV003472957 RCV000668139 RCV001570919 RCV004732522
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	SNV Germline	Chr17:58216088	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Inborn genetic diseases Condition: not provided Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA213122	rs_386834048	19 SubmittersRCV000022415 RCV000201633 RCV000605128 RCV000666711 RCV004018536 RCV000341018 RCV000694137 RCV001123802 RCV004528065
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	SNV Germline	Chr17:58206479	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Hypotonia Nystagmus Polydactyly Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Condition: not provided Joubert syndrome 28 MKS1-related disorder Meckel syndrome, type 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA251777	rs_137853105	10 SubmittersRCV000001458 RCV000626942 RCV001239533 RCV000665962 RCV001578018 RCV001729331 RCV004532272 RCV004566669 RCV005357056
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	4 SubmittersRCV000002070 RCV003330381
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)	SNV Germline	Chr6:135457594	Pathogenic	Joubert syndrome 3 Joubert syndrome	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 Joubert syndrome	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 Global developmental delay Typical Joubert syndrome MRI findings	Criteria Provided Multiple Submitters No Conflicts	CA249938	rs_121434350	3 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 Joubert syndrome	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 Joubert syndrome Joubert syndrome with ocular defect Condition: not provided AHI1-related disorder	Criteria Provided Conflicting Classifications	CA252048	rs_121434351	10 SubmittersRCV000002092 RCV000463110 RCV001172382 RCV001582460 RCV004752680
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	SNV Germline	Chr3:132696798	Pathogenic	Nephronophthisis 3 Nephronophthisis NPHP3-related Meckel-like syndrome Condition: not provided Joubert syndrome and related disorders Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome NPHP3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115660	rs_267606916	10 SubmittersRCV000002759 RCV000234832 RCV001330459 RCV001529627 RCV002281691 RCV002496237 RCV005222662
NM_001128178.3(NPHP1):c.1716+1G>T	SNV Germline	Chr2:110129185	Pathogenic/Likely pathogenic	Nephronophthisis 1 Nephronophthisis Joubert syndrome with renal defect Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA348086755	rs_1233478832	4 SubmittersRCV000003682 RCV001851623 RCV003466796 RCV005016232
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	SNV Germline	Chr2:110163048	Pathogenic	Nephronophthisis 1 Condition: not provided Nephronophthisis NPHP1-related disorder Joubert syndrome with renal defect Inborn genetic diseases Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116310	rs_121907899	14 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004018547 RCV005025001 RCV004814818
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)	SNV Germline	Chr6:135457660	Pathogenic	Joubert syndrome 3 Condition: not provided Retinal dystrophy Joubert syndrome with ocular defect Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA259900	rs_201391050	6 SubmittersRCV000023739 RCV000255060 RCV001074225 RCV001172379 RCV001390240
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)	SNV Germline	Chr6:135448432	Pathogenic	Joubert syndrome 3 Joubert syndrome	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 Condition: not provided	Criteria Provided Single Submitter	CA342750	rs_367543065	2 SubmittersRCV000023788 RCV004808556
NM_018718.3(CEP41):c.33+2T>G	SNV Germline	Chr7:130440932	Pathogenic	Joubert syndrome 15	No Assertion Criteria Provided	CA369289478	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	CA4485569	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	CA369287167	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	CA406008844	rs_1487082103	2 SubmittersRCV000023919 RCV003330400
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)	SNV Germline	Chr4:15596110	Conflicting classifications of pathogenicity	Joubert syndrome 9/15, digenic Condition: not provided Meckel-Gruber syndrome Joubert syndrome CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA129547	rs_387907058	5 SubmittersRCV000023923 RCV000594523 RCV001852033 RCV004532401
NM_024809.5(TCTN2):c.1506-2A>G	SNV Germline	Chr12:123699702	Pathogenic/Likely pathogenic	Meckel syndrome, type 8 TCTN2-related disorder Condition: not provided Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 24 Joubert syndrome 24 Meckel syndrome, type 8 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA129649	rs_374349989	11 SubmittersRCV000024072 RCV000305893 RCV000727919 RCV001261610 RCV002513219 RCV003987331 RCV005007893 RCV003993750
NM_015681.6(B9D1):c.341+2T>C	SNV Germline	Chr17:19347782	Pathogenic/Likely pathogenic	Meckel syndrome, type 9 Condition: not provided Joubert syndrome 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 Joubert syndrome Joubert syndrome and related disorders Condition: not provided TMEM237-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA260000	rs_199469707	14 SubmittersRCV000024179 RCV000034999 RCV002265568 RCV001701641 RCV004748538
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA222872146	rs_917404097	6 SubmittersRCV000024186 RCV002271376 RCV004724755
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/Likely pathogenic	Joubert syndrome 16	Criteria Provided Multiple Submitters No Conflicts	CA260010	rs_387907133	3 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 Joubert syndrome and related disorders	Criteria Provided Conflicting Classifications	CA260012	rs_387907135	6 SubmittersRCV000024190 RCV004586023
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 Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA342791	rs_367543061	10 SubmittersRCV000024218 RCV000522403 RCV002271377 RCV003444055 RCV005031455
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342792	rs_367543062	6 SubmittersRCV000024219 RCV000763545 RCV004526599 RCV005234796
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)	SNV Germline	Chr5:37183377	Pathogenic	Joubert syndrome 17 Condition: not provided Joubert syndrome 17 Orofaciodigital syndrome type 6	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 Joubert syndrome 17 Orofaciodigital syndrome type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342796	rs_139675596	9 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	CA396110679	rs_1596988259	1 SubmittersRCV000030828
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)	SNV Germline	Chr16:75556198	Conflicting classifications of pathogenicity	Joubert syndrome 20 not specified Meckel syndrome, type 11 Joubert syndrome 20	Criteria Provided Conflicting Classifications	CA130590	rs_397514609	3 SubmittersRCV000033041 RCV001778672 RCV002513310
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)	SNV Germline	Chr16:75542641	Conflicting classifications of pathogenicity	Joubert syndrome 20 Condition: not provided Joubert syndrome 20 Meckel syndrome, type 11 Inborn genetic diseases Joubert syndrome and related disorders TMEM231-related disorder	Criteria Provided Conflicting Classifications	CA130593	rs_200799769	8 SubmittersRCV000033042 RCV000255979 RCV000543480 RCV002513311 RCV003155046 RCV004755755
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter)	SNV Germline	ChrX:13753411	Pathogenic	Orofaciodigital syndrome I Condition: not provided Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Multiple Submitters No Conflicts	CA343946	rs_312262863	3 SubmittersRCV000033955 RCV001781339 RCV002514145
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	SNV Germline	ChrX:13736487	Pathogenic	Joubert syndrome Orofaciodigital syndrome I Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2 Orofaciodigital syndrome I Joubert syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA343958	rs_312262810	2 SubmittersRCV001383219 RCV002496509
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)	SNV Germline	ChrX:13736626	Pathogenic	Joubert syndrome Orofaciodigital syndrome I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343997	rs_312262818	2 SubmittersRCV000687996 RCV004696645
NM_001378615.1(CC2D2A):c.2486+1G>C	SNV Germline	Chr4:15553306	Pathogenic/Likely pathogenic	Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144216	rs_386833747	4 SubmittersRCV000049711 RCV002513686 RCV005250005
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)	SNV Germline	Chr4:15557451	Pathogenic/Likely pathogenic	Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144217	rs_386833748	4 SubmittersRCV000049712 RCV001853048 RCV000778721 RCV001753469
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)	SNV Germline	Chr4:15567729	Pathogenic/Likely pathogenic	Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Polydactyly	Criteria Provided Multiple Submitters No Conflicts	CA144225	rs_386833752	5 SubmittersRCV000049716 RCV000201581 RCV001539860 RCV002514252 RCV001007916
NM_001378615.1(CC2D2A):c.3399-3C>A	SNV Germline	Chr4:15569290	Likely pathogenic	Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA144227	rs_386833753	2 SubmittersRCV000049717 RCV001346597
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)	SNV Germline	Chr4:15570446	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 CC2D2A-related disorder Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome 9 Meckel syndrome, type 6 COACH syndrome 2 Retinitis pigmentosa 93	Criteria Provided Conflicting Classifications	CA144229	rs_386833755	7 SubmittersRCV000049719 RCV003335082 RCV001378831 RCV001723639 RCV005031533
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	SNV Germline	Chr4:15510217	Pathogenic	Meckel syndrome, type 6 Condition: not provided Joubert syndrome 9 Retinitis pigmentosa 93 Meckel syndrome, type 6 COACH syndrome 2 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144239	rs_386833763	7 SubmittersRCV000049727 RCV004700347 RCV005031535 RCV001853050
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	SNV Germline	Chr11:61397797	Pathogenic	Meckel syndrome, type 2 Joubert syndrome 2 Condition: not provided TMEM216-related disorder Joubert syndrome Meckel syndrome, type 2 Joubert syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA144308	rs_11230683	12 SubmittersRCV000049797 RCV000201650 RCV000760437 RCV000779067 RCV000822982 RCV001787335
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)	SNV Germline	Chr17:58214784	Pathogenic	Meckel syndrome, type 1 Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 13 Condition: not provided MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344757	rs_386834050	5 SubmittersRCV000050036 RCV001382376 RCV003474635 RCV000760436 RCV004732640
NM_017777.4(MKS1):c.515+1G>A	SNV Germline	Chr17:58214740	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344762	rs_201933838	8 SubmittersRCV000050037 RCV000671081 RCV001220121 RCV003474636 RCV004696672
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)	SNV Germline	Chr17:58210980	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 13 Leber congenital amaurosis 6 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1	Criteria Provided Conflicting Classifications	CA344764	rs_386834053	7 SubmittersRCV000050040 RCV000735097 RCV001853066 RCV003474638 RCV000735871 RCV005025107
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Condition: not provided Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	SNV Germline	Chr12:88139153	Pathogenic/Likely pathogenic	Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Retinal dystrophy Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA144391	rs_386834153	10 SubmittersRCV000050147 RCV001091341 RCV001274137 RCV001053674 RCV004760362 RCV004814991 RCV003466923
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	SNV Germline	Chr8:93781725	Pathogenic/Likely pathogenic	Meckel syndrome, type 3 Joubert syndrome 6 Joubert syndrome Meckel-Gruber syndrome TMEM67-related disorder 6 conditions Meckel-Gruber syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144430	rs_386834180	9 SubmittersRCV000050175 RCV000201777 RCV000560903 RCV000778866 RCV002477175 RCV000114240 RCV001267954
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 Joubert syndrome Meckel-Gruber syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA144435	rs_386834182	9 SubmittersRCV000050177 RCV000430117 RCV001804788 RCV001853069 RCV005042162
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)	SNV Germline	Chr8:93786256	Pathogenic/Likely pathogenic	Meckel syndrome, type 3 6 conditions Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144439	rs_386834183	3 SubmittersRCV000050178 RCV005394287 RCV000823807
NM_153704.6(TMEM67):c.1413-1G>C	SNV Germline	Chr8:93787843	Pathogenic	Meckel syndrome, type 3 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA144449	rs_386834185	2 SubmittersRCV000050180 RCV000694518
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu)	SNV Germline	Chr8:93804796	Conflicting classifications of pathogenicity	Meckel syndrome, type 3 Condition: not provided Joubert syndrome Meckel-Gruber syndrome 6 conditions	Criteria Provided Conflicting Classifications	CA144461	rs_386834193	4 SubmittersRCV000050187 RCV000393971 RCV002514270 RCV005049412
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys)	SNV Germline	Chr8:93808928	Pathogenic	Meckel syndrome, type 3 TMEM67-related disorder Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA144466	rs_386834194	3 SubmittersRCV000050188 RCV004537237 RCV005213202
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)	SNV Germline	Chr8:93758557	Pathogenic	Meckel syndrome, type 3 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA144487	rs_386834201	2 SubmittersRCV000050195 RCV002514271
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)	SNV Germline	Chr8:93772612	Pathogenic	Meckel syndrome, type 3 Joubert syndrome 6 Joubert syndrome 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	8 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_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter)	SNV Germline	Chr16:53649038	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Joubert syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA281341870	rs_267604575	3 SubmittersRCV001220267 RCV004017384 RCV005016358
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 Retinal dystrophy NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA220570	rs_189320299	7 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380 RCV004815000 RCV004734635
NM_003611.3(OFD1):c.54A>G (p.Glu18=)	SNV Germline	ChrX:13735289	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA222228	rs_147114577	6 SubmittersRCV000251169 RCV000723696 RCV001518323 RCV004019554
NM_015272.5(RPGRIP1L):c.2153-4G>C	SNV Germline	Chr16:53649119	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA223182	rs_201380599	7 SubmittersRCV000081722 RCV000636978 RCV001120738 RCV001120739 RCV001118787 RCV001573698
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)	SNV Germline	Chr16:53641066	Conflicting classifications of pathogenicity	not specified Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Condition: not provided RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA148755	rs_144313291	8 SubmittersRCV000081725 RCV000280063 RCV000323400 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 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000402012 RCV000408211 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 Nephronophthisis 3 Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome	Criteria Provided Multiple Submitters No Conflicts	CA201362	rs_398124546	7 SubmittersRCV000175246 RCV002281916 RCV002513853 RCV004528299 RCV004593987 RCV005031572
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	SNV Germline	Chr2:27447544	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 10 with or without polydactyly Joubert syndrome Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly Bardet-Biedl syndrome 20 Condition: not provided Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly	Criteria Provided Multiple Submitters No Conflicts	CA149724	rs_587777079	5 SubmittersRCV000083270 RCV000201713 RCV002483158 RCV003225027 RCV005213205
NM_014714.4(IFT140):c.874G>A (p.Val292Met)	SNV Germline	Chr16:1587961	Pathogenic/Likely pathogenic	Saldino-Mainzer syndrome Saldino-Mainzer syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Jeune thoracic dystrophy Retinal dystrophy Retinitis pigmentosa 80 Saldino-Mainzer syndrome Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA149747	rs_431905521	7 SubmittersRCV000083297 RCV000626469 RCV000515922 RCV004815018 RCV005016363 RCV004579537
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227967	rs_62640581	9 SubmittersRCV000086289 RCV001199210 RCV002498466 RCV001216498 RCV001831897 RCV003467011
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	SNV Germline	Chr12:88083888	Pathogenic	Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder 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	CA227973	rs_62640574	6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related ciliopathy 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	CA227975	rs_62638179	10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)	SNV Germline	Chr8:67158540	Pathogenic	Joubert syndrome 21 Condition: not provided CSPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150605	rs_587777138	5 SubmittersRCV000087066 RCV004719692 RCV004757126
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 Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome 9 Meckel syndrome, type 6	Criteria Provided Conflicting Classifications	CA150849	rs_144439937	11 SubmittersRCV000114164 RCV001082503 RCV000423044 RCV001149500 RCV001149501
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 Joubert syndrome 9 Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 9 Meckel syndrome, type 6 Condition: not provided CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA150861	rs_187003641	8 SubmittersRCV000114170 RCV000176277 RCV000515156 RCV000636974 RCV001146035 RCV001146036 RCV001719852 RCV004529912
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)	SNV Germline	Chr4:15502879	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Condition: not provided Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93 Joubert syndrome 9 COACH syndrome 2 Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA150875	rs_377177061	8 SubmittersRCV000114178 RCV000596321 RCV001074483 RCV001056175 RCV003317090 RCV004698824 RCV005025174
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)	SNV Germline	Chr4:15596154	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Condition: not provided COACH syndrome 2 Retinitis pigmentosa 93 Meckel syndrome, type 6 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA150879	rs_368720062	3 SubmittersRCV000114180 RCV002284363 RCV005031597
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)	SNV Germline	Chr4:15596177	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA150882	rs_587779732	5 SubmittersRCV000114181 RCV001854529 RCV004721263 RCV005252759
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)	SNV Germline	Chr12:88092700	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA150905	rs_372190684	4 SubmittersRCV000114194 RCV000636999 RCV001831902 RCV004542807
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	SNV Germline	Chr12:88079219	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Kidney disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA150915	rs_61941020	18 SubmittersRCV000114201 RCV000336982 RCV000352237 RCV000399104 RCV000436165 RCV000292636 RCV000407985 RCV001084256 RCV001826782 RCV002294031 RCV003888506
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)	SNV Germline	Chr12:123686870	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 8 Condition: not provided Joubert syndrome 24	Criteria Provided Conflicting Classifications	CA150964	rs_79251326	8 SubmittersRCV000114230 RCV000204827 RCV000625192 RCV003390794 RCV001110871
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)	SNV Germline	Chr8:93786243	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA150984	rs_35765535	8 SubmittersRCV000114242 RCV000200297 RCV001161604 RCV001719853
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)	SNV Germline	Chr8:93799678	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 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_153704.6(TMEM67):c.748G>A (p.Gly250Arg)	SNV Germline	Chr8:93780626	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA151009	rs_587779736	3 SubmittersRCV000114249 RCV002514565 RCV005042203
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)	SNV Germline	Chr9:136430288	Conflicting classifications of pathogenicity	not specified Joubert syndrome 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 Hereditary cancer-predisposing syndrome Condition: not provided Gorlin syndrome Medulloblastoma Gorlin syndrome Medulloblastoma Familial meningioma Joubert syndrome 32 Familial meningioma	Criteria Provided Conflicting Classifications	CA162216	rs_368178771	8 SubmittersRCV000122098 RCV000562404 RCV000726658 RCV000471241 RCV000763642 RCV003460861
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)	SNV Germline	Chr10:102615273	Conflicting classifications of pathogenicity	not specified Medulloblastoma Condition: not provided Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma Gorlin syndrome Medulloblastoma Familial meningioma Joubert syndrome 32 SUFU-related disorder	Criteria Provided Conflicting Classifications	CA162222	rs_79299301	11 SubmittersRCV000122100 RCV000260834 RCV001354923 RCV000466509 RCV000566455 RCV003467081 RCV000763641 RCV004737208
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)	SNV Germline	Chr10:102615350	Conflicting classifications of pathogenicity	not specified Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma Medulloblastoma Familial meningioma Joubert syndrome 32 Basal cell nevus syndrome 2	Criteria Provided Conflicting Classifications	CA162225	rs_149449923	8 SubmittersRCV000122101 RCV000525787 RCV001009905 RCV003126503 RCV004567055 RCV005025197
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis Kidney disorder	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000262275 RCV000361419 RCV000297299 RCV000321698 RCV000475858 RCV000266641 RCV002505080 RCV001274128 RCV002294036
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000293222 RCV000337209 RCV000279934 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis Kidney disorder	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	8 SubmittersRCV000124248 RCV000319253 RCV000259368 RCV000354431 RCV000472139 RCV000267777 RCV000322977 RCV001812002 RCV001276489 RCV002294038
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)	SNV Germline	Chr6:135323233	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 3 Joubert syndrome not specified Optic atrophy	Criteria Provided Conflicting Classifications	CA232849	rs_148000791	15 SubmittersRCV000132677 RCV000198715 RCV000304449 RCV000249126 RCV004815201
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel syndrome, type 4 Joubert syndrome 1 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000193732 RCV000132681 RCV001110731 RCV000988879 RCV001110732 RCV000490488 RCV001109949 RCV001109950 RCV001272010 RCV001083794 RCV003888568
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	7 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV005252766
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	SNV Germline	Chr6:135433119	Pathogenic/Likely pathogenic	Joubert syndrome 3 Retinitis pigmentosa Condition: not provided Leber congenital amaurosis Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA270780	rs_587783013	10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV001262092 RCV003495112
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr12:88089157	Pathogenic	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis 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.3290-2A>G	SNV Germline	Chr5:37201810	Pathogenic/Likely pathogenic	Orofaciodigital syndrome type 6 Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA170946	rs_606231260	3 SubmittersRCV000144859 RCV005031649
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 Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Conflicting Classifications	CA271185	rs_201404524	4 SubmittersRCV000145385 RCV002055874 RCV005042285
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)	SNV Germline	Chr12:110640479	Conflicting classifications of pathogenicity	Joubert syndrome 13 Meckel-Gruber syndrome Joubert 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 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000373904 RCV000390170 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 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 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 RCV001109956 RCV001110741 RCV001079764 RCV001110739 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 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 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 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046 RCV004815226
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	SNV Germline	Chr12:88060951	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 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_025114.4(CEP290):c.1667T>A (p.Ile556Asn)	SNV Germline	Chr12:88118527	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233677	rs_727503854	5 SubmittersRCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	SNV Germline	Chr2:110178520	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Joubert syndrome with renal defect Condition: not provided Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA234415	rs_140446520	9 SubmittersRCV000153590 RCV000195676 RCV000372811 RCV000515315 RCV000338020 RCV001535425 RCV001094558 RCV004734720
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)	SNV Germline	Chr16:53649028	Conflicting classifications of pathogenicity	Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Joubert syndrome RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA233780	rs_142349647	7 SubmittersRCV000284497 RCV000327884 RCV000384916 RCV000723738 RCV001085401 RCV001831948 RCV004528883
NM_001378615.1(CC2D2A):c.1017+1G>A	SNV Germline	Chr4:15516005	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 9 Condition: not provided CC2D2A-related disorder Meckel syndrome, type 6 Retinitis pigmentosa 93 Joubert syndrome 9 COACH syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA210291	rs_200407856	8 SubmittersRCV000198057 RCV000201663 RCV000597652 RCV004732713 RCV005031661
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 Meckel-Gruber syndrome Joubert syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233625	rs_371086728	7 SubmittersRCV000281217 RCV000316406 RCV000375703 RCV000723801 RCV001088003 RCV004815224
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 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA233634	rs_199688524	3 SubmittersRCV000152940 RCV000313289 RCV000407945 RCV001089089
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=)	SNV Germline	Chr12:88071446	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA233668	rs_727503852	2 SubmittersRCV000152971 RCV001425231
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000400108 RCV000291841 RCV000344957 RCV000399776 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 Joubert syndrome Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Kidney disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA234809	rs_146902870	8 SubmittersRCV000252274 RCV000475862 RCV001116965 RCV001116966 RCV001116967 RCV002294053 RCV001704116
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	SNV Germline	Chr17:58206158	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Condition: not provided not specified Meckel-Gruber syndrome Joubert syndrome Microcephaly MKS1-related disorder Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1	Criteria Provided Conflicting Classifications	CA273756	rs_199910690	9 SubmittersRCV000161135 RCV000324288 RCV001797645 RCV001082780 RCV001252740 RCV004724951 RCV001272920 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	3 SubmittersRCV000162151 RCV001332730
NM_001082538.3(TCTN1):c.342-2A>G	SNV Germline	Chr12:110626360	Pathogenic	Global developmental delay Typical Joubert syndrome MRI findings Joubert syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA249937	rs_730882221	4 SubmittersRCV000162131 RCV000201626
NM_015272.5(RPGRIP1L):c.230+1G>A	SNV Germline	Chr16:53696150	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Joubert 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	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Single Submitter	CA334638	rs_786204222	2 SubmittersRCV000168353 RCV000665745
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter)	SNV Germline	Chr12:123706833	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA199170	rs_786204788	1 SubmittersRCV000169679
NM_017777.4(MKS1):c.417+1G>A	SNV Germline	Chr17:58216087	Pathogenic/Likely pathogenic	Condition: not provided Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA235986	rs_756368560	4 SubmittersRCV000171264 RCV001826869 RCV003474920 RCV001063303
NM_001378615.1(CC2D2A):c.4437+1G>A	SNV Germline	Chr4:15596208	Pathogenic	Condition: not provided Joubert syndrome 9	Criteria Provided Single Submitter	CA236210	rs_786205568	1 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	5 SubmittersRCV000173201 RCV001430941 RCV003965240
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)	SNV Germline	Chr11:61392636	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided Meckel syndrome, type 2 Joubert syndrome 2 TMEM216-related disorder	Criteria Provided Conflicting Classifications	CA238698	rs_569734777	5 SubmittersRCV000345023 RCV000173235 RCV000391281 RCV001094053 RCV004535185
NM_024809.5(TCTN2):c.-2G>A	SNV Germline	Chr12:123671239	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA238978	rs_141768405	3 SubmittersRCV000724112 RCV001510325
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)	SNV Germline	Chr8:93754939	Conflicting classifications of pathogenicity	not specified Condition: not provided TMEM67-related disorder 6 conditions Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 1	Criteria Provided Conflicting Classifications	CA200630	rs_199961375	7 SubmittersRCV000173581 RCV001704249 RCV004539599 RCV002485119 RCV000860917 RCV000988093
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	SNV Germline	Chr2:110161690	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA239098	rs_371112962	4 SubmittersRCV000173662 RCV000353470 RCV000390136 RCV000305677 RCV001094562
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)	SNV Germline	Chr2:110161645	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Conflicting Classifications	CA239100	rs_794726975	3 SubmittersRCV000173663 RCV001852113 RCV002500458
NM_003611.3(OFD1):c.936-2A>G	SNV Germline	ChrX:13751247	Conflicting classifications of pathogenicity	Condition: not provided Congenital anomaly of kidney and urinary tract OFD1-related disorder Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Conflicting Classifications	CA239242	rs_199902986	5 SubmittersRCV000173783 RCV001254710 RCV004535188 RCV001088503
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)	SNV Germline	Chr16:53664957	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Joubert syndrome 7 Nephronophthisis 8 Joubert syndrome Meckel-Gruber syndrome Condition: not provided Meckel syndrome, type 5 COACH syndrome 1 Joubert syndrome 7 Joubert syndrome Inborn genetic diseases RPGRIP1L-related disorder Optic atrophy	Criteria Provided Conflicting Classifications	CA239324	rs_137982921	13 SubmittersRCV000339807 RCV000401583 RCV000307599 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604 RCV004816258
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)	SNV Germline	Chr16:53658782	Conflicting classifications of pathogenicity	Condition: not provided not specified Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 5	Criteria Provided Conflicting Classifications	CA200839	rs_138155747	12 SubmittersRCV000223981 RCV000174130 RCV001082949 RCV001271335 RCV001120841
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)	SNV Germline	Chr5:37227308	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17 not specified	Criteria Provided Conflicting Classifications	CA239661	rs_374411782	7 SubmittersRCV000724006 RCV000325656 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 Meckel-Gruber syndrome TMEM67-related disorder Joubert syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA200867	rs_140191346	7 SubmittersRCV000174181 RCV001409831 RCV004539607 RCV000988094 RCV001356583
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)	SNV Germline	Chr4:15516723	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA239791	rs_760839591	4 SubmittersRCV000174275 RCV002516624 RCV001423715
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)	SNV Germline	Chr12:110645106	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 13	Criteria Provided Conflicting Classifications	CA239794	rs_201894544	5 SubmittersRCV000243338 RCV000724004 RCV001085845 RCV003137704
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)	SNV Germline	Chr12:110645045	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA239797	rs_370336923	4 SubmittersRCV000253154 RCV000724607 RCV001078872
NM_017777.4(MKS1):c.1025-2A>C	SNV Germline	Chr17:58208585	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome 28 Meckel syndrome, type 1 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_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)	SNV Germline	Chr12:110647264	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome TCTN1-related disorder not specified	Criteria Provided Conflicting Classifications	CA240051	rs_368907353	6 SubmittersRCV000724086 RCV002056921 RCV003895182 RCV003150968
NM_001128178.3(NPHP1):c.1270-4C>T	SNV Germline	Chr2:110146839	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 1 Joubert syndrome with renal defect Condition: not provided Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA240230	rs_151204566	8 SubmittersRCV000174670 RCV000230927 RCV001128803 RCV001128802 RCV001699052 RCV001128804
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=)	SNV Germline	Chr16:53652875	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Joubert syndrome Meckel-Gruber syndrome RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA240561	rs_779429646	4 SubmittersRCV000174930 RCV001271330 RCV001088867 RCV004732739
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)	SNV Germline	Chr5:37221446	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA240601	rs_794727154	3 SubmittersRCV000174951 RCV000611123
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV001084413 RCV001112002 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV000835406
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)	SNV Germline	ChrX:13760628	Conflicting classifications of pathogenicity	Condition: not provided Orofaciodigital syndrome I Joubert syndrome Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA240715	rs_746300545	3 SubmittersRCV000175046 RCV000701169 RCV004821992
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)	SNV Germline	Chr4:15537971	Conflicting classifications of pathogenicity	Condition: not provided COACH syndrome 1 Joubert syndrome 9 Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6 Joubert syndrome 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240849	rs_201439617	7 SubmittersRCV000724892 RCV000765755 RCV001479910 RCV001147083 RCV001147084 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 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA206244	rs_16892134	10 SubmittersRCV000193025 RCV000351496 RCV000514696 RCV000404783 RCV001083444
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=)	SNV Germline	Chr16:53645869	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA240914	rs_794727193	2 SubmittersRCV000175208 RCV001852144
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)	SNV Germline	Chr16:53645665	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis 8 Joubert syndrome 7 Joubert syndrome Meckel-Gruber syndrome RPGRIP1L-related disorder Meckel syndrome, type 5	Criteria Provided Conflicting Classifications	CA201346	rs_139503476	7 SubmittersRCV000175209 RCV000514096 RCV001120642 RCV001120644 RCV001082641 RCV004537378 RCV001120643
NM_017777.4(MKS1):c.1506G>A (p.Ser502=)	SNV Germline	Chr17:58206365	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA240920	rs_368535131	3 SubmittersRCV000175214 RCV000280084 RCV000374576 RCV001087215
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)	SNV Germline	Chr4:15540996	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA241001	rs_768337150	3 SubmittersRCV000175278 RCV001506609 RCV004539625
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)	SNV Germline	Chr4:15540883	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Inborn genetic diseases CC2D2A-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA201370	rs_190698163	6 SubmittersRCV000175280 RCV000863197 RCV005305973 RCV004539627 RCV001711970
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)	SNV Germline	Chr4:15540872	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 6 Joubert syndrome 9 Joubert syndrome Meckel-Gruber syndrome COACH syndrome 1 Inborn genetic diseases CC2D2A-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA241005	rs_200236654	8 SubmittersRCV000175281 RCV001145224 RCV001145223 RCV001239969 RCV001329599 RCV004965296 RCV004537379 RCV004816268
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)	SNV Germline	Chr4:15540994	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 1 Meckel syndrome, type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA201373	rs_199768782	8 SubmittersRCV000175282 RCV000860615 RCV000987417 RCV001147192 RCV003436969
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)	SNV Germline	Chr12:88117141	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA241104	rs_372349042	6 SubmittersRCV000175368 RCV000724312 RCV001088014 RCV001275034
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)	SNV Germline	Chr6:135411501	Conflicting classifications of pathogenicity	Condition: not provided not specified Joubert syndrome	Criteria Provided Conflicting Classifications	CA241966	rs_373772212	5 SubmittersRCV000176103 RCV001698990 RCV001396553
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala)	SNV Germline	Chr8:93799649	Conflicting classifications of pathogenicity	Condition: not provided not specified Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA242109	rs_781383498	3 SubmittersRCV000176240 RCV003230435 RCV003765092
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)	SNV Germline	Chr5:37187826	Conflicting classifications of pathogenicity	Joubert syndrome 17 not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA242230	rs_145520487	9 SubmittersRCV000201620 RCV000254359 RCV004020091 RCV000724250
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 Nephronophthisis 12 Jeune thoracic dystrophy Nephronophthisis Chronic kidney disease Connective tissue disorder Asphyxiating thoracic dystrophy 4	Criteria Provided Conflicting Classifications	CA201936	rs_146496725	12 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001135582 RCV001085304 RCV001171333 RCV002277374 RCV001135581
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)	SNV Germline	Chr12:88107095	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA242475	rs_371159780	5 SubmittersRCV000176500 RCV003150970 RCV001074978 RCV001086387
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 Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Conflicting Classifications	CA242574	rs_202103224	6 SubmittersRCV000176587 RCV001153832 RCV004020097 RCV005031711
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	SNV Germline	Chr12:88102849	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis not specified Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Retinal dystrophy Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	11 SubmittersRCV000176690 RCV000660467 RCV001113515 RCV001082205 RCV000192651 RCV001111528 RCV001111529 RCV001275025 RCV004816280 RCV001113514 RCV004528939
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)	SNV Germline	Chr11:61393958	Conflicting classifications of pathogenicity	not specified Joubert syndrome Joubert syndrome 2	Criteria Provided Conflicting Classifications	CA202293	rs_57932685	5 SubmittersRCV000177125 RCV000533045 RCV001279272
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	SNV Germline	Chr17:58216714	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome MKS1-related disorder Bardet-Biedl syndrome 13 Meckel syndrome, type 1	Criteria Provided Conflicting Classifications	CA346867	rs_142813109	14 SubmittersRCV000177294 RCV000514445 RCV001079449 RCV004528943 RCV000351197 RCV000399365
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 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000400157 RCV000300808 RCV000335768 RCV000348352 RCV001699223 RCV000198308 RCV001826899 RCV000401126 RCV004528944
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	SNV Germline	Chr12:88087872	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis not specified Inborn genetic diseases Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA244173	rs_184143186	8 SubmittersRCV000177662 RCV001273073 RCV003150971 RCV004975310 RCV001080328
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Retinal dystrophy Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	11 SubmittersRCV001036300 RCV000523279 RCV001826904 RCV004816287 RCV002222427 RCV001376454 RCV003468864 RCV005003531
NM_025114.4(CEP290):c.5013-7A>C	SNV Germline	Chr12:88080402	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA244955	rs_762217156	2 SubmittersRCV000177954 RCV001496142
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000364677 RCV000328615 RCV000268862 RCV001082773 RCV001832019 RCV003352794 RCV004528947 RCV000265423 RCV000320490 RCV000712032
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)	SNV Germline	Chr16:53692113	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Condition: not provided RPGRIP1L-related disorder Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245348	rs_74957591	6 SubmittersRCV001080714 RCV000178300 RCV004537460 RCV001271342 RCV005268563
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 Joubert syndrome 17 Orofaciodigital syndrome type 6 CPLANE1-related disorder	Criteria Provided Conflicting Classifications	CA245417	rs_139496915	6 SubmittersRCV000178339 RCV001152760 RCV004020121 RCV005042388 RCV004752778
NM_024809.5(TCTN2):c.429T>C (p.Ile143=)	SNV Germline	Chr12:123673776	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA245445	rs_188417716	2 SubmittersRCV000178367 RCV002054112
NM_001384732.1(CPLANE1):c.8462-1G>C	SNV Germline	Chr5:37142481	Conflicting classifications of pathogenicity	Condition: not provided See cases Orofaciodigital syndrome type 6 CPLANE1-related disorder Inborn genetic diseases Joubert syndrome 17 not specified Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Conflicting Classifications	CA275274	rs_151279194	13 SubmittersRCV000178539 RCV002287379 RCV003457649 RCV004752779 RCV004020124 RCV000778764 RCV001824663 RCV005031712
NM_001384732.1(CPLANE1):c.8958+4A>C	SNV Germline	Chr5:37125240	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 17 CPLANE1-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA245783	rs_199810663	10 SubmittersRCV000247706 RCV000428354 RCV000321409 RCV003891741 RCV005621904
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)	SNV Germline	Chr12:88060900	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA202959	rs_191613017	5 SubmittersRCV000178636 RCV001697163 RCV000637007 RCV001272011
NM_025114.4(CEP290):c.6523-6T>C	SNV Germline	Chr12:88060026	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245845	rs_794727692	3 SubmittersRCV000178672 RCV001451553 RCV002517742
NM_001128178.3(NPHP1):c.330-4G>A	SNV Germline	Chr2:110170002	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA245909	rs_774162169	4 SubmittersRCV000178744 RCV003586162 RCV005025286 RCV004539674
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)	SNV Germline	Chr4:15480745	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246013	rs_794727713	3 SubmittersRCV000178830 RCV003765100 RCV005305976
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 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA246806	rs_149925563	9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001087340 RCV001132639 RCV001132638 RCV004537489
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)	SNV Germline	Chr12:123686991	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 24 Meckel syndrome, type 8 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA246813	rs_149430216	7 SubmittersRCV000249746 RCV000724485 RCV001110188 RCV001114227 RCV001086250
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)	SNV Germline	Chr12:123686886	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 24 Meckel syndrome, type 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA203333	rs_147485641	7 SubmittersRCV000179535 RCV000556780 RCV001112867 RCV001112868 RCV001550115
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Condition: not provided not specified CEP290-related disorder Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV001085617 RCV001112634 RCV000179537 RCV003488430 RCV004539683 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	13 SubmittersRCV000724859 RCV000179538 RCV001275047 RCV001526756 RCV005008108 RCV001082749 RCV004537490 RCV005305978
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)	SNV Germline	Chr4:15502836	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 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 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA247115	rs_202150325	9 SubmittersRCV000248937 RCV000275309 RCV000365106 RCV000724326 RCV001082303
NM_001082538.3(TCTN1):c.823-4C>G	SNV Germline	Chr12:110636477	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA247118	rs_754017886	2 SubmittersRCV000179810 RCV001852237
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)	SNV Germline	Chr12:123688096	Conflicting classifications of pathogenicity	not specified Joubert syndrome 24 Meckel syndrome, type 8 Joubert syndrome Meckel-Gruber syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA203516	rs_144567556	7 SubmittersRCV000179977 RCV000275193 RCV000327984 RCV000465788 RCV001721126
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)	SNV Germline	Chr4:15510201	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome Condition: not provided CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA247569	rs_190694237	5 SubmittersRCV000245560 RCV000295467 RCV000317762 RCV000532465 RCV003128590 RCV004528955
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile)	SNV Germline	Chr12:110640473	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 13 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA247572	rs_118057448	6 SubmittersRCV000180204 RCV001111502 RCV001323802
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)	SNV Germline	Chr6:135457612	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3 not specified Inborn genetic diseases Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA247748	rs_200927282	6 SubmittersRCV001206260 RCV001155546 RCV000250813 RCV002517761 RCV004816310 RCV000724880
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)	SNV Germline	Chr4:15511309	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder COACH syndrome 2 Retinitis pigmentosa 93 Joubert syndrome 9 Meckel syndrome, type 6	Criteria Provided Conflicting Classifications	CA248036	rs_556542553	4 SubmittersRCV000180554 RCV001497046 RCV004537512 RCV005031717
NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln)	SNV Germline	Chr6:135455921	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Inborn genetic diseases Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA248175	rs_371243793	5 SubmittersRCV000724597 RCV001226983 RCV004020179 RCV005031718
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)	SNV Germline	Chr5:37231020	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 17 Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Conflicting Classifications	CA248228	rs_373704405	5 SubmittersRCV000180684 RCV000201580 RCV005031719
NM_001329943.3(KIAA0586):c.1254-1G>C	SNV Germline	Chr14:58456701	Pathogenic	Joubert syndrome 23 Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204047	rs_757350052	8 SubmittersRCV000186591 RCV000652577 RCV000479178
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/Likely pathogenic	Orofacial-digital syndrome IV Joubert syndrome 18 Orofacial-digital syndrome IV	Criteria Provided Multiple Submitters No Conflicts	CA204583	rs_764091969	3 SubmittersRCV000190630 RCV002517029
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)	SNV Germline	Chr14:58428458	Pathogenic	Short-rib thoracic dysplasia 14 with polydactyly Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23	Criteria Provided Single Submitter	CA214894	rs_797045119	2 SubmittersRCV000190840 RCV005222820
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.891T>C (p.Tyr297=)	SNV Germline	Chr4:15515878	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA208012	rs_797045438	2 SubmittersRCV000194084 RCV002517060
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)	SNV Germline	Chr4:15538112	Conflicting classifications of pathogenicity	not specified Joubert syndrome 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 Joubert syndrome Meckel-Gruber syndrome COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93 CC2D2A-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA209079	rs_764719093	6 SubmittersRCV000194720 RCV000763523 RCV003765214 RCV005025311 RCV004528978 RCV003238731
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 Joubert syndrome 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	CC2D2A-related disorder not specified Joubert syndrome 9 Meckel syndrome, type 6 Condition: not provided Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA209579	rs_372671421	9 SubmittersRCV000265440 RCV000195028 RCV000301860 RCV000361304 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 Condition: not provided Joubert syndrome 17 Intellectual disability	Criteria Provided Conflicting Classifications	CA206075	rs_141911199	10 SubmittersRCV000192922 RCV000726605 RCV000625259 RCV005621910
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 Joubert syndrome	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 Joubert syndrome Meckel-Gruber syndrome COACH syndrome 1	Criteria Provided Conflicting Classifications	CA205731	rs_797046045	4 SubmittersRCV000192720 RCV000201747 RCV003765239 RCV004783761
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)	SNV Germline	Chr9:136433044	Conflicting classifications of pathogenicity	not specified Joubert syndrome 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 Joubert syndrome Joubert syndrome 1 Inborn genetic diseases INPP5E-related disorder Joubert syndrome 1 MORM syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA209401	rs_199873582	8 SubmittersRCV000194920 RCV001044083 RCV001166425 RCV002517084 RCV004528981 RCV005042414 RCV005252804
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)	SNV Germline	Chr12:88071409	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA208989	rs_780570235	3 SubmittersRCV000194670 RCV000867286 RCV004530109
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)	SNV Germline	Chr12:88092734	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA206711	rs_11836796	4 SubmittersRCV000193317 RCV001487901 RCV004530107
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)	SNV Germline	Chr12:88120196	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA206543	rs_777299440	3 SubmittersRCV000193213 RCV000870071 RCV004541238
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)	SNV Germline	Chr16:53641352	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 5 Nephronophthisis 8 Condition: not provided Joubert syndrome 7 Inborn genetic diseases Joubert syndrome	Criteria Provided Conflicting Classifications	CA207998	rs_146197239	10 SubmittersRCV000194076 RCV000861106 RCV001117063 RCV001117062 RCV001698998 RCV001117064 RCV002517128 RCV001833139
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)	SNV Germline	Chr16:53687963	Conflicting classifications of pathogenicity	not specified Nephronophthisis 8 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 5 Joubert syndrome Joubert syndrome 7 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA206389	rs_140067659	9 SubmittersRCV000193122 RCV001120943 RCV000861107 RCV001120944 RCV001271340 RCV001120942 RCV004020339 RCV001699228
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.1436G>A (p.Arg479His)	SNV Germline	Chr17:58206519	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Conflicting Classifications	CA206807	rs_111315726	10 SubmittersRCV000193368 RCV000224657 RCV001082508 RCV001128313 RCV001128312
NM_017777.4(MKS1):c.1158A>G (p.Glu386=)	SNV Germline	Chr17:58208112	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome MKS1-related disorder	Criteria Provided Conflicting Classifications	CA209743	rs_797045705	3 SubmittersRCV000195124 RCV002056997 RCV004541246
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	SNV Germline	Chr17:58212996	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA347417	rs_797045706	5 SubmittersRCV000194216 RCV000672938 RCV003765230 RCV003474946
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly)	SNV Germline	ChrX:13757717	Conflicting classifications of pathogenicity	not specified Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Conflicting Classifications	CA205291	rs_754484224	2 SubmittersRCV000192458 RCV002054273
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)	SNV Germline	ChrX:13763840	Conflicting classifications of pathogenicity	not specified Orofaciodigital syndrome I Joubert syndrome Orofaciodigital syndrome I Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2 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	Leber congenital amaurosis 10 Bardet-Biedl syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 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 Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 not specified Inborn genetic diseases Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1	Criteria Provided Conflicting Classifications	CA336743	rs_780427871	6 SubmittersRCV000196832 RCV000730183 RCV001128695 RCV001128696 RCV001135698 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 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6 COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome 9 CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA338306	rs_373960465	8 SubmittersRCV000350715 RCV000344416 RCV001087622 RCV000405623 RCV002227457 RCV004530191
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)	SNV Germline	Chr6:135318527	Conflicting classifications of pathogenicity	Joubert syndrome not specified Intellectual disability Joubert syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA335852	rs_201148693	5 SubmittersRCV000195696 RCV000248598 RCV001252130 RCV001157001 RCV001596984
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)	SNV Germline	Chr6:135457656	Conflicting classifications of pathogenicity	Joubert syndrome 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	Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 3 Joubert syndrome 6 Nephronophthisis 11 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA336379	rs_115660279	6 SubmittersRCV000196386 RCV000291370 RCV000339372 RCV000377674 RCV000245192 RCV001705157
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	SNV Germline	Chr8:93780603	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 6 Inborn genetic diseases Condition: not provided Abnormality of the nervous system Nephronophthisis 11 COACH syndrome 1 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA277789	rs_775883520	12 SubmittersRCV000198666 RCV000201726 RCV000624166 RCV001090385 RCV001814102 RCV004798803 RCV002283466 RCV005042429
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 Joubert syndrome 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 Joubert syndrome 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 Germline	Chr4:15555209	Pathogenic	Joubert syndrome 9 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210272	rs_200904521	2 SubmittersRCV000201574 RCV005222826
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/Likely pathogenic	Joubert syndrome 9 Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210338	rs_773881370	5 SubmittersRCV000201775 RCV004796099 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 COACH syndrome 1 Joubert syndrome 9 Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93 COACH syndrome 2 Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA210269	rs_370880399	10 SubmittersRCV000201572 RCV000489696 RCV000763524 RCV000702498 RCV000778722 RCV005031762 RCV005052801
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)	SNV Germline	Chr4:15563474	Pathogenic	Joubert syndrome 9 Joubert syndrome 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 Joubert syndrome Meckel-Gruber syndrome 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 Joubert syndrome 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 Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93 COACH syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA210258	rs_779823379	5 SubmittersRCV000201552 RCV001261604 RCV001853232 RCV005031761
NM_001378615.1(CC2D2A):c.3976-3C>A	SNV Germline	Chr4:15586154	Conflicting classifications of pathogenicity	Joubert syndrome 9 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93 COACH syndrome 2 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA210298	rs_576298659	4 SubmittersRCV000201676 RCV002519579 RCV005031765 RCV004816346
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)	SNV Germline	Chr4:15586170	Conflicting classifications of pathogenicity	Joubert syndrome 9 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93 COACH syndrome 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA210320	rs_763486732	5 SubmittersRCV000201714 RCV001067961 RCV005031764 RCV003144159 RCV003323453
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 Joubert syndrome 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 Joubert syndrome 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 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases COACH syndrome 1 CC2D2A-related disorder Neurodevelopmental disorder Ciliopathy Retinal dystrophy COACH syndrome 2 Retinitis pigmentosa 93 Meckel syndrome, type 6 Joubert syndrome 9 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA210318	rs_201502401	20 SubmittersRCV000201706 RCV000286210 RCV000474430 RCV000347415 RCV001266486 RCV001542750 RCV000778102 RCV002277554 RCV005365132 RCV004816345 RCV005031763 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 Joubert syndrome 17 Orofaciodigital syndrome type 6 Condition: not provided Joubert syndrome See cases Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA277758	rs_374144275	9 SubmittersRCV000201669 RCV000697060 RCV000357854 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 Orofaciodigital syndrome type 6 Joubert syndrome 17 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA277713	rs_141507441	9 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 Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA277737	rs_147416429	6 SubmittersRCV000201628 RCV001332490 RCV002517309 RCV005042430
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	SNV Germline	Chr5:37157810	Pathogenic/Likely pathogenic	Joubert syndrome 17 Jaundice Global developmental delay Condition: not provided Orofaciodigital syndrome type 6 Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA277813	rs_749523755	13 SubmittersRCV000201773 RCV000415153 RCV000255254 RCV000646703 RCV001198869
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)	SNV Germline	Chr5:37158258	Pathogenic/Likely pathogenic	Joubert syndrome 17 Condition: not provided Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA279479	rs_863225159	4 SubmittersRCV000201681 RCV004767146 RCV003987448
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)	SNV Germline	Chr5:37198775	Pathogenic	Joubert syndrome 17 Condition: not provided Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA277732	rs_141153181	6 SubmittersRCV000201619 RCV000255261 RCV000677320 RCV005031759
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/Likely pathogenic	Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279485	rs_863225166	3 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 Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA277756	rs_760906097	5 SubmittersRCV000201667 RCV001376973 RCV003897435 RCV005031758
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 Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA279458	rs_863225163	6 SubmittersRCV000201655 RCV000362856 RCV005031757
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 and related disorders Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA277773	rs_530569572	7 SubmittersRCV000201692 RCV000523063 RCV003230448 RCV002478717
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	4 SubmittersRCV000201759 RCV001065433 RCV003390946
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)	SNV Germline	Chr5:37244521	Pathogenic/Likely pathogenic	Joubert syndrome 17 not specified Condition: not provided Nephronophthisis Joubert syndrome and related disorders CPLANE1-related disorder Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Multiple Submitters No Conflicts	CA277763	rs_756856188	11 SubmittersRCV000201674 RCV000500106 RCV000686452 RCV001328280 RCV003330576 RCV003907754 RCV005031760
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)	SNV Germline	Chr6:135427226	Conflicting classifications of pathogenicity	Joubert syndrome 3 not specified	Criteria Provided Conflicting Classifications	CA277806	rs_368788993	2 SubmittersRCV000201756 RCV005237713
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)	SNV Germline	Chr6:135427244	Pathogenic	Joubert syndrome 3 Joubert syndrome Condition: not provided AHI1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279374	rs_863225135	4 SubmittersRCV000201566 RCV001240194 RCV001091216 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 Joubert syndrome	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 Joubert syndrome	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 Joubert syndrome Condition: not provided not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA279352	rs_863225144	5 SubmittersRCV000201537 RCV000817125 RCV003237762 RCV003235125 RCV004816344
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	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	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 Joubert syndrome	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 Joubert syndrome	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 Joubert syndrome 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 Joubert syndrome Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA277801	rs_371637724	4 SubmittersRCV000201739 RCV000702666 RCV004767145
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	SNV Germline	Chr6:135455811	Pathogenic	Joubert syndrome 3 Retinal dystrophy Condition: not provided Joubert syndrome Nephronophthisis Joubert syndrome and related disorders Rod-cone dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339611	rs_777668842	9 SubmittersRCV000201715 RCV001074545 RCV000482493 RCV000206729 RCV001328119 RCV003317148 RCV001376375
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)	SNV Germline	Chr6:135455818	Pathogenic	Joubert syndrome 3 Joubert syndrome Condition: not provided Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279421	rs_863225143	6 SubmittersRCV000201621 RCV001853230 RCV004719748 RCV005237712
NM_001134831.2(AHI1):c.1152-2A>G	SNV Germline	Chr6:135455928	Pathogenic	Joubert syndrome 3 Joubert syndrome	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 Joubert syndrome and related disorders See cases	Criteria Provided Multiple Submitters No Conflicts	CA279546	rs_863225142	4 SubmittersRCV000201760 RCV003330575 RCV002287391
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	SNV Germline	Chr6:135465901	Pathogenic	Joubert syndrome 3 Joubert syndrome Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279475	rs_863225138	4 SubmittersRCV000201668 RCV003765300 RCV002469064
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	4 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	3 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	3 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 Joubert syndrome 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 Joubert syndrome 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 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 6 Nephronophthisis 11 Meckel syndrome, type 3	Criteria Provided Conflicting Classifications	CA277766	rs_750950408	4 SubmittersRCV000201683 RCV002222442 RCV001853242 RCV005621916
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 Joubert syndrome 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 Joubert syndrome 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 Joubert syndrome Meckel-Gruber syndrome TMEM67-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279392	rs_863225232	4 SubmittersRCV000201590 RCV005222828 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 Joubert syndrome 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 Inborn genetic diseases Bardet-Biedl syndrome 14 Joubert syndrome 6 COACH syndrome 1 Meckel syndrome, type 3 Nephronophthisis 11 Joubert syndrome Renal cyst Oligohydramnios 14 conditions Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 3 6 conditions	Criteria Provided Conflicting Classifications	CA277817	rs_752362727	6 SubmittersRCV000201784 RCV000623940 RCV000763609 RCV000414925 RCV000627003 RCV001853244 RCV003997037 RCV005042432
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)	SNV Germline	Chr8:93786285	Pathogenic	Joubert syndrome 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA277776	rs_116647652	6 SubmittersRCV000201701 RCV001536330 RCV001853243 RCV005042431
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 Joubert syndrome 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 Meckel syndrome, type 3 Nephronophthisis 11 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome and related disorders 6 conditions	Criteria Provided Conflicting Classifications	CA279453	rs_863225238	6 SubmittersRCV000201654 RCV001161723 RCV001163244 RCV001307480 RCV005437985 RCV005042433
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)	SNV Germline	Chr8:93803652	Pathogenic	Joubert syndrome 6 Joubert syndrome Meckel-Gruber syndrome 6 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277715	rs_751517725	5 SubmittersRCV000201592 RCV002515477 RCV002503793 RCV003128594
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 6 conditions	Criteria Provided Conflicting Classifications	CA279557	rs_863225233	3 SubmittersRCV000201774 RCV001753605 RCV005049478
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)	SNV Germline	Chr9:136430325	Pathogenic/Likely pathogenic	Joubert syndrome Rod-cone dystrophy Condition: not provided INPP5E-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277739	rs_752300607	5 SubmittersRCV000201629 RCV001376233 RCV001537183 RCV004530206
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly)	SNV Germline	Chr9:136430395	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA279423	rs_863225197	2 SubmittersRCV000201622 RCV001775664
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)	SNV Germline	Chr9:136431090	Conflicting classifications of pathogenicity	Joubert syndrome Rod-cone dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA277743	rs_746867724	4 SubmittersRCV000201636 RCV001376305 RCV001775665
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr)	SNV Germline	Chr9:136431905	Conflicting classifications of pathogenicity	Joubert syndrome not specified	Criteria Provided Conflicting Classifications	CA277770	rs_757222534	2 SubmittersRCV000201688 RCV004526642
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)	SNV Unknown	Chr9:136432986	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA279520	rs_863225202	1 SubmittersRCV000201740
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)	SNV Germline	Chr9:136433073	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA279447	rs_863225201	4 SubmittersRCV000201647 RCV001753604 RCV004701264
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)	SNV Germline	Chr9:136433160	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279366	rs_863225200	2 SubmittersRCV000201546 RCV005237714
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met)	SNV Germline	Chr9:136433250	Pathogenic	Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279496	rs_863225198	2 SubmittersRCV000201710
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)	SNV Germline	Chr9:136434050	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA277795	rs_780882740	4 SubmittersRCV000201735 RCV001267700 RCV001775666
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu)	SNV Germline	Chr9:136434127	Pathogenic	Joubert syndrome INPP5E-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277720	rs_754637179	3 SubmittersRCV000201594 RCV004530207
NM_019892.6(INPP5E):c.907G>A (p.Val303Met)	SNV Germline	Chr9:136434769	Pathogenic/Likely pathogenic	Joubert syndrome Condition: not provided Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA277808	rs_746212325	4 SubmittersRCV000201762 RCV001559945 RCV005431549
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 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA210256	rs_745688122	6 SubmittersRCV000201547 RCV000796275 RCV003227713 RCV004782310
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	SNV Germline	Chr11:61393964	Conflicting classifications of pathogenicity	Joubert syndrome 2 Condition: not provided Joubert syndrome 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 Joubert syndrome Meckel syndrome, type 2 Joubert syndrome 2 TMEM216-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277700	rs_755459875	6 SubmittersRCV000201555 RCV000443367 RCV001853240 RCV002503792 RCV004530208
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)	SNV Germline	Chr12:123686884	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Joubert syndrome not specified Joubert syndrome 24 Meckel syndrome, type 8	Criteria Provided Conflicting Classifications	CA210323	rs_201827132	4 SubmittersRCV000201719 RCV001853239 RCV002222441 RCV005008143
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)	SNV Germline	Chr12:123694859	Conflicting classifications of pathogenicity	Joubert syndrome Meckel syndrome, type 8	Criteria Provided Conflicting Classifications	CA210299	rs_187433682	2 SubmittersRCV000201680 RCV000310999
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter)	SNV Unknown	Chr12:123695276	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA279498	rs_863225221	1 SubmittersRCV000201712
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)	SNV Germline	Chr12:123704670	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome and related disorders Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210283	rs_201010803	3 SubmittersRCV000201600 RCV001582698 RCV001853238
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 Bardet-Biedl syndrome 14 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis 10 Retinal dystrophy 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	CA277735	rs_371525247	8 SubmittersRCV000201627 RCV000598256 RCV003468924 RCV001382359 RCV004798806 RCV004816348 RCV005003554
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 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 Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	9 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005623073 RCV005361163
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Cystic renal dysplasia Occipital encephalocele Blindness Global developmental delay Condition: not provided Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis Inborn genetic diseases Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	12 SubmittersRCV000201672 RCV000626966 RCV000414892 RCV000493605 RCV000763311 RCV001271568 RCV002519581 RCV000806654 RCV004732783 RCV003462354 RCV004816347
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	14 SubmittersRCV000201597 RCV000521437 RCV001828040 RCV001036850 RCV003155122 RCV002250594 RCV003468926 RCV002485329 RCV004816349
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Occipital encephalocele Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Condition: not provided Leber congenital amaurosis 10 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	16 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001030764 RCV001002937 RCV000816913 RCV001529566 RCV001589085 RCV004732782 RCV003468919
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)	SNV Germline	Chr12:88111226	Conflicting classifications of pathogenicity	Joubert syndrome 5 Retinal dystrophy Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277728	rs_748034744	5 SubmittersRCV000201605 RCV001074504 RCV001471584 RCV005003555 RCV004975329
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 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	CA279529	rs_863225186	5 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)	SNV Germline	Chr12:88130283	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279451	rs_863225185	4 SubmittersRCV000201653 RCV000503197 RCV002519580 RCV003159108
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	Joubert syndrome Joubert syndrome 33 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA210261	rs_17089782	9 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	3 SubmittersRCV000201703 RCV001781606
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)	SNV Germline	Chr14:58482712	Pathogenic	Joubert syndrome 23 Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23	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 Joubert syndrome Meckel-Gruber syndrome Condition: not provided Inborn genetic diseases Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5 RPGRIP1L-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277753	rs_778533826	6 SubmittersRCV000201661 RCV001853237 RCV002509297 RCV002517313 RCV002492927 RCV004732786
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 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279377	rs_863225218	3 SubmittersRCV000201573 RCV001853236 RCV005606653
NM_015681.6(B9D1):c.466C>T (p.Arg156Trp)	SNV Germline	Chr17:19343796	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 27	Criteria Provided Multiple Submitters No Conflicts	CA210263	rs_369488112	2 SubmittersRCV000201564 RCV004796098
NM_015681.6(B9D1):c.285C>A (p.Phe95Leu)	SNV Germline	Chr17:19347840	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA210334	rs_373478202	2 SubmittersRCV000201768 RCV000541544
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys)	SNV Germline	Chr17:19360357	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 27 not specified Meckel syndrome, type 9 Joubert syndrome 27	Criteria Provided Conflicting Classifications	CA210301	rs_771170000	4 SubmittersRCV000201685 RCV000241546 RCV004586621 RCV005016558
NM_017777.4(MKS1):c.1589-2A>T	SNV Germline	Chr17:58206172	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279509	rs_863225207	2 SubmittersRCV000201731 RCV002515476
NM_017777.4(MKS1):c.1389G>T (p.Arg463=)	SNV Germline	Chr17:58207103	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA210309	rs_773269657	2 SubmittersRCV000201691 RCV001447386
NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser)	SNV Unknown	Chr17:58207906	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA279550	rs_863225210	1 SubmittersRCV000201767
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	SNV Germline	Chr17:58207959	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided Bardet-Biedl syndrome 13 Meckel syndrome, type 1 not specified Joubert syndrome 28 Meckel-Gruber syndrome Joubert syndrome MKS1-related disorder	Criteria Provided Conflicting Classifications	CA210326	rs_773684291	7 SubmittersRCV000201754 RCV000479872 RCV000984285 RCV000984284 RCV003230449 RCV000984286 RCV001853235 RCV004732785
NM_017777.4(MKS1):c.950G>A (p.Gly317Glu)	SNV Unknown	Chr17:58210988	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA279387	rs_863225208	1 SubmittersRCV000201588
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)	SNV Germline	Chr17:58214763	Conflicting classifications of pathogenicity	Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA210278	rs_779953982	5 SubmittersRCV000201596 RCV000675062 RCV001123799 RCV001123798 RCV002517312
NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr)	SNV Germline	Chr17:58219176	Pathogenic	Joubert syndrome Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279536	rs_863225205	2 SubmittersRCV000201752 RCV001857741
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)	SNV Germline	Chr19:41354765	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 34 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA210341	rs_750436680	3 SubmittersRCV000201776 RCV002265681 RCV001844085
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)	SNV Germline	Chr19:41355008	Pathogenic/Likely pathogenic	Joubert syndrome 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	Joubert syndrome 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 Orofaciodigital syndrome I Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA279419	rs_863225213	4 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/Likely pathogenic	Joubert syndrome 10 Condition: not provided Retinal dystrophy Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279372	rs_863225212	5 SubmittersRCV000201562 RCV000484195 RCV003888641 RCV001383220
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 Joubert syndrome 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	Joubert syndrome 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 Joubert syndrome 7 Polycystic kidney disease Condition: not provided Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA348383	rs_2234917	12 SubmittersRCV000204140 RCV000253113 RCV001258257 RCV001292230 RCV001705172 RCV001000584
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)	SNV Germline	Chr8:93765416	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis 11	Criteria Provided Multiple Submitters No Conflicts	CA348322	rs_138783896	2 SubmittersRCV000204053 RCV001281327
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)	SNV Germline	ChrX:13738888	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA349854	rs_202103941	2 SubmittersRCV002057049 RCV004020507
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 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA352256	rs_751962801	3 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 Joubert syndrome Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 3 Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057711	rs_148230131	8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV002500747 RCV001854774 RCV002519757 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 Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8669502	rs_756853299	6 SubmittersRCV000224251 RCV000668874 RCV001049084 RCV003475049 RCV004732799
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 Nephronophthisis 8 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 7 Joubert syndrome RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057886	rs_79708859	8 SubmittersRCV000224232 RCV000253760 RCV001120842 RCV001120843 RCV001079549 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 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis 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 Meckel syndrome, type 1 Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669556	rs_202112856	11 SubmittersRCV000224664 RCV000318559 RCV001126449 RCV000695608 RCV000765373 RCV001126448 RCV004541364
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 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_025114.4(CEP290):c.297+1G>T	SNV Germline	Chr12:88139144	Pathogenic/Likely pathogenic	Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA10581686	rs_878853360	7 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003469116 RCV003155133 RCV005003571
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)	SNV Germline	Chr12:88140988	Likely pathogenic	Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA10581687	rs_878853363	2 SubmittersRCV000225409 RCV001854802
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)	SNV Germline	Chr4:15550968	Conflicting classifications of pathogenicity	Condition: not provided COACH syndrome 1 Meckel syndrome, type 6 Joubert syndrome 9 Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder Meckel syndrome, type 6 Joubert syndrome 9 Retinal dystrophy Optic atrophy	Criteria Provided Conflicting Classifications	CA2863889	rs_200764366	7 SubmittersRCV000726192 RCV000765757 RCV001084783 RCV001150183 RCV001150184 RCV001150185 RCV004816440 RCV004816441
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)	SNV Germline	Chr4:15567721	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 CC2D2A-related disorder Joubert syndrome 9 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2864143	rs_753770061	2 SubmittersRCV000283981 RCV000379534 RCV000338996 RCV001421061
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)	SNV Germline	Chr4:15574207	Pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA10582215	rs_375278294	4 SubmittersRCV000597765 RCV001383169 RCV003987465
NM_001378615.1(CC2D2A):c.4438-9C>A	SNV Germline	Chr4:15597398	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 9 not specified Meckel syndrome, type 6 Condition: not provided CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA2864387	rs_117667651	6 SubmittersRCV000233027 RCV000267027 RCV000363082 RCV000317484 RCV001576959 RCV004532860
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)	SNV Germline	Chr4:15597428	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 9 not specified Meckel syndrome, type 6	Criteria Provided Conflicting Classifications	CA2864389	rs_186486235	5 SubmittersRCV000229439 RCV000318552 RCV000319463 RCV000385807
NM_016169.4(SUFU):c.169A>G (p.Ile57Val)	SNV Germline	Chr10:102504321	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Medulloblastoma Condition: not provided Basal cell nevus syndrome 2 Joubert syndrome 32 Medulloblastoma Familial meningioma Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA5667602	rs_377614167	7 SubmittersRCV000232777 RCV000573039 RCV001106675 RCV002264924 RCV005031820 RCV005600869
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)	SNV Germline	Chr10:102599537	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Joubert syndrome 32 Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667839	rs_773037813	6 SubmittersRCV000231709 RCV001169975 RCV001017004 RCV003237794 RCV003463673
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)	SNV Germline	Chr12:88055666	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109948 RCV001109944 RCV001109946 RCV004725118
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 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	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 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	8 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)	SNV Germline	Chr16:53619079	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 Joubert syndrome RPGRIP1L-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8057257	rs_142317242	5 SubmittersRCV000232122 RCV000302183 RCV000359252 RCV000271829 RCV001271323 RCV004532945 RCV004955360
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)	SNV Germline	Chr17:58206373	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Inborn genetic diseases MKS1-related disorder Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13	Criteria Provided Conflicting Classifications	CA8669097	rs_144635826	7 SubmittersRCV000316438 RCV000380158 RCV000513283 RCV001084685 RCV002519801 RCV004529411 RCV005396816
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)	SNV Germline	Chr17:58214359	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Condition: not provided Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 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 RCV000728102 RCV000765372 RCV001122692 RCV001122693 RCV001820754 RCV002518354 RCV004532953
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)	SNV Germline	Chr10:95693450	Conflicting classifications of pathogenicity	not specified Orofacial-digital syndrome IV Joubert syndrome 18 Joubert syndrome 18	Criteria Provided Conflicting Classifications	CA5621186	rs_749447795	5 SubmittersRCV000491257 RCV001343978 RCV002470827
NM_017777.4(MKS1):c.240G>T (p.Trp80Cys)	SNV Germline	Chr17:58216687	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA400327736	rs_1114167302	1 SubmittersRCV000491898
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)	SNV Germline	Chr8:93799758	Conflicting classifications of pathogenicity	Nephronophthisis Condition: not provided Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 3 Nephronophthisis 11 Joubert syndrome 6 Kidney disorder TMEM67-related disorder	Criteria Provided Conflicting Classifications	CA4808233	rs_115563233	7 SubmittersRCV000234818 RCV000723708 RCV001087450 RCV001163248 RCV001163250 RCV001163249 RCV002294093 RCV004732810
NM_025114.4(CEP290):c.943-4C>T	SNV Germline	Chr12:88126442	Conflicting classifications of pathogenicity	not specified CEP290-related ciliopathies Condition: not provided Inborn genetic diseases Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712651	rs_199770158	8 SubmittersRCV000238918 RCV000509374 RCV000727048 RCV002519864 RCV001083590 RCV004816452
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg)	SNV Germline	Chr16:3508407	Likely pathogenic	Joubert syndrome	No Assertion Criteria Provided	CA7863689	rs_768663992	1 SubmittersRCV000496983
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)	SNV Germline	Chr17:6607209	Pathogenic	Orofaciodigital syndrome XV not specified Condition: not provided Joubert syndrome 38	Criteria Provided Multiple Submitters No Conflicts	CA10586689	rs_886038200	5 SubmittersRCV000241533 RCV000506654 RCV002305473 RCV003225054
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	Likely pathogenic	Joubert syndrome 28 Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1	Criteria Provided Single Submitter	CA10586693	rs_886038203	2 SubmittersRCV000241543 RCV005025397
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_015681.6(B9D1):c.467G>A (p.Arg156Gln)	SNV Germline	Chr17:19343795	Conflicting classifications of pathogenicity	Joubert syndrome 27 Meckel-Gruber syndrome Joubert syndrome Condition: not provided Ciliopathy Joubert syndrome and related disorders	Criteria Provided Conflicting Classifications	CA10586695	rs_886038205	5 SubmittersRCV000241544 RCV001854947 RCV002251449 RCV005361490 RCV005406991
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_001044385.3(TMEM237):c.297A>G (p.Gln99=)	SNV Germline	Chr2:201633409	Conflicting classifications of pathogenicity	not specified Joubert syndrome 14	Criteria Provided Conflicting Classifications	CA2056521	rs_767711440	3 SubmittersRCV000248915 RCV001324708
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 Joubert syndrome 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 Joubert syndrome 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.1017+7G>A	SNV Germline	Chr4:15516011	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2863537	rs_137919504	3 SubmittersRCV000248826 RCV000726180 RCV001519252
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)	SNV Germline	Chr4:15599680	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA2864429	rs_199861496	4 SubmittersRCV000249958 RCV000726181 RCV001081653
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 Joubert syndrome 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 Joubert syndrome 9 Meckel syndrome, type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA2864494	rs_199945435	4 SubmittersRCV000251518 RCV000276457 RCV000326813 RCV000371188 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 Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3237849	rs_201122718	6 SubmittersRCV000250100 RCV001153647 RCV000946041
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 Condition: not provided Joubert syndrome 17	Criteria Provided Conflicting Classifications	CA3239077	rs_191239995	6 SubmittersRCV000252356 RCV000646713 RCV000625261
NM_001134831.2(AHI1):c.2492+15G>A	SNV Germline	Chr6:135429867	Conflicting classifications of pathogenicity	not specified Joubert syndrome 3 Joubert syndrome	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 Joubert syndrome Joubert syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA4012382	rs_191682790	5 SubmittersRCV000249053 RCV001462053 RCV001157121 RCV001705372
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)	SNV Germline	Chr6:135431282	Conflicting classifications of pathogenicity	not specified Joubert syndrome Retinal dystrophy Joubert syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA4012400	rs_755688765	5 SubmittersRCV000249307 RCV001034978 RCV004816458 RCV005031834 RCV005251108

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

SNV
Germline

Chr11:61393965

Pathogenic

Joubert syndrome 2
Meckel syndrome, type 2
Condition: not provided
Joubert syndrome
Inborn genetic diseases
TMEM216-related disorder
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA339800

rs_201108965

19 SubmittersRCV000000220 RCV000409114 RCV000255378 RCV000465185 RCV000624413 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
Joubert syndrome
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA129626

rs_201108965

6 SubmittersRCV000000221 RCV000024013 RCV001038780 RCV005049302

NM_019892.6(INPP5E):c.1879C>T (p.Gln627Ter)

SNV
Germline

Chr9:136429731

Pathogenic

MORM syndrome
MORM syndrome
Joubert syndrome 1

Criteria Provided
Single Submitter

CA114238

rs_121918127

2 SubmittersRCV000000427 RCV005041961

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

SNV
Germline

Chr9:136431830

Pathogenic/Likely pathogenic

Joubert syndrome 1
Joubert syndrome
Joubert syndrome 1
MORM syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA259595

rs_13297509

4 SubmittersRCV000022402 RCV001851510 RCV005049303

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

SNV
Germline

Chr9:136430391

Likely pathogenic

Joubert syndrome 1
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA259596

rs_121918128

3 SubmittersRCV000022403 RCV004700175

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

SNV
Germline

Chr9:136432562

Pathogenic/Likely pathogenic

Joubert syndrome 1
Joubert syndrome
Retinal dystrophy
Condition: not provided
INPP5E-related disorder
not specified
Joubert syndrome 1
MORM syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA259597

rs_121918129

9 SubmittersRCV000022404 RCV000201569 RCV001073387 RCV003144102 RCV004755693 RCV003488316 RCV005049304

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

SNV
Germline

Chr9:136433182

Pathogenic/Likely pathogenic

Joubert syndrome 1
Inborn genetic diseases
Joubert syndrome and related disorders
Joubert syndrome
16 conditions
INPP5E-related disorder
Condition: not provided
MORM syndrome
Joubert syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA259598

rs_121918130

8 SubmittersRCV000022405 RCV001267543 RCV002265543 RCV000636941 RCV000735369 RCV004532266 RCV001550720 RCV005394101

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

SNV
Germline

Chr4:15550981

Pathogenic

Joubert syndrome 9

No Assertion Criteria Provided

CA356417595

rs_2109050324

1 SubmittersRCV000000777

NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)

SNV
Germline

Chr4:15537074

Pathogenic

Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2863751

rs_116358011

4 SubmittersRCV000000778 RCV001385996 RCV005024978 RCV005409592

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
Joubert syndrome

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
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Joubert syndrome 9
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114471

rs_118204052

9 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV003764503 RCV004532267 RCV005031374

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

SNV
Germline

Chr4:15559183

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114473

rs_118204053

9 SubmittersRCV000000781 RCV000727257 RCV001266487 RCV002512617 RCV004528061 RCV005222657

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

SNV
Germline

Chr4:15563485

Pathogenic

COACH syndrome 2
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9/15, digenic
Condition: not provided
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
See cases
Inborn genetic diseases
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA129544

rs_386833750

8 SubmittersRCV000000783 RCV000199602 RCV000023922 RCV000578695 RCV002476904 RCV002251848 RCV005305943 RCV004795365

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

SNV
Germline

Chr4:15567735

Conflicting classifications of pathogenicity

COACH syndrome 2
Condition: not provided
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA210343

rs_267606709

6 SubmittersRCV000000784 RCV000729670 RCV000201781 RCV001383566 RCV005031375

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

SNV
Germline

Chr16:53686512

Pathogenic

Joubert syndrome 7
RPGRIP1L-related disorder
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251686

rs_121918197

5 SubmittersRCV000001123 RCV000367935 RCV001385849 RCV001831499 RCV001781156

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

SNV
Germline

Chr16:53652844

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251689

rs_121918198

8 SubmittersRCV000001124 RCV000689745 RCV000393725 RCV001271279 RCV002482812 RCV004528062 RCV003155007

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

SNV
Germline

Chr16:53686452

Pathogenic

Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA251691

rs_121918199

5 SubmittersRCV000001125 RCV001067857 RCV001831500 RCV003398409 RCV005016221

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

SNV
Germline

Chr16:53652604

Pathogenic/Likely pathogenic

Joubert syndrome 7
Joubert syndrome

No Assertion Criteria Provided

CA251694

rs_121918200

2 SubmittersRCV000001126 RCV005606630

NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter)

SNV
Germline

Chr16:53692201

Pathogenic

Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA114729

rs_121918201

2 SubmittersRCV000001127 RCV001042174

NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)

SNV
Germline

Chr16:53671580

Pathogenic

Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA114732

rs_121918202

2 SubmittersRCV000001128 RCV003764506

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

SNV
Germline

Chr16:53645694

Pathogenic/Likely pathogenic

Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 1
Joubert syndrome 7
Meckel syndrome, type 5
RPGRIP1L-related disorder
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA130771

rs_121918203

7 SubmittersRCV000033207 RCV000790748 RCV001059320 RCV000762961 RCV000779628 RCV001831501 RCV005007803 RCV004017218

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

SNV
Germline

Chr16:53652637

Pathogenic/Likely pathogenic

Joubert syndrome 7
Joubert syndrome 7
COACH syndrome 1
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Joubert syndrome
Abnormality of prenatal development or birth
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA251696

rs_121918204

10 SubmittersRCV000001131 RCV000762962 RCV000824619 RCV001781157 RCV001271277 RCV001813927 RCV005007804

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

SNV
Germline

Chr16:53645895

Pathogenic

COACH syndrome 3
Joubert syndrome 7
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA210648

rs_145665129

7 SubmittersRCV000001134 RCV000201645 RCV000733537 RCV001831502 RCV001382825 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
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy
Retinitis pigmentosa
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 6
Leber congenital amaurosis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
COG7 congenital disorder of glycosylation
Abnormality of the nervous system
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

31 SubmittersRCV000001396 RCV000086298 RCV000531295 RCV000114202 RCV001073790 RCV000787813 RCV000515339 RCV001261607 RCV001276487 RCV001000092 RCV001002714 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV004798711 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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA227962

rs_62635288

6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001851540 RCV001328051

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

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

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

NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)

SNV
Germline

Chr12:88111320

Pathogenic

Leber congenital amaurosis 10
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA339890

rs_137852833

3 SubmittersRCV000001401 RCV001851541 RCV003466777

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

SNV
Germline

Chr12:88083936

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

22 SubmittersRCV000001402 RCV000001403 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV000415219 RCV000415120 RCV001002715 RCV001831504 RCV001046610 RCV003492281 RCV003466778 RCV003155008 RCV004975257

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

SNV
Germline

Chr12:88130324

Pathogenic

Meckel syndrome, type 4
Polycystic kidney disease
Severe hydrocephalus
Encephalocele
Leber congenital amaurosis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis 10
Condition: not provided
Retinal dystrophy
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003887847 RCV002496228 RCV003466779 RCV004732519

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
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA251753

rs_267606719

4 SubmittersRCV000001410 RCV000201631 RCV001261609 RCV004760315

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

SNV
Germline

Chr8:93791282

Pathogenic/Likely pathogenic

Joubert syndrome 6
COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA210653

rs_137853107

5 SubmittersRCV000001436 RCV000001437 RCV001851544 RCV004585980 RCV005049307

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

SNV
Germline

Chr8:93804883

Pathogenic

Joubert syndrome 6
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA4808296

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
Meckel-Gruber syndrome
Joubert syndrome
TMEM67-related disorder
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA213073

rs_199821258

10 SubmittersRCV000001439 RCV000050199 RCV001698938 RCV001851545 RCV004732520 RCV002281687

NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu)

SNV
Germline

Chr8:93793256

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251766

rs_267607114

2 SubmittersRCV002512642 RCV004808544

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
Meckel-Gruber syndrome
Joubert syndrome
TMEM67-related disorder
Condition: not provided
RHYNS syndrome
Joubert syndrome and related disorders
6 conditions
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA114963

rs_137853108

21 SubmittersRCV000001443 RCV000001442 RCV000468558 RCV000334857 RCV000494327 RCV000723362 RCV002298428 RCV002490291 RCV003242959

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-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 3
Nephronophthisis 11
COACH syndrome 1
not specified
TMEM67-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA114968

rs_111619594

15 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001085857 RCV001158405 RCV001158406 RCV001333012 RCV003488318 RCV004528064 RCV005394103

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

SNV
Germline

Chr8:93808898

Pathogenic/Likely pathogenic

COACH syndrome 1
Joubert syndrome 6
Meckel syndrome, type 3
Joubert syndrome and related disorders
6 conditions
Nephronophthisis 11
COACH syndrome 1
Joubert syndrome 6
RHYNS syndrome
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210657

rs_267607119

13 SubmittersRCV000001445 RCV000001446 RCV000995902 RCV001804708 RCV001536092 RCV005357054 RCV000821785 RCV001310635 RCV003315221

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.312+5G>A

SNV
Germline

Chr8:93755871

Pathogenic

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA212770

rs_786200868

3 SubmittersRCV000001448 RCV001388801 RCV002496229

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

SNV
Germline

Chr8:93795503

Pathogenic/Likely pathogenic

COACH syndrome 1
Joubert syndrome 6
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA210661

rs_267607115

8 SubmittersRCV000001449 RCV000201677 RCV001781164 RCV001851546 RCV005049308

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
Meckel-Gruber syndrome
Joubert syndrome
Oligohydramnios
Joubert syndrome
Renal cyst
Condition: not provided
Inborn genetic diseases
14 conditions
Joubert syndrome 6
COACH syndrome 1
Bardet-Biedl syndrome 14
Nephronophthisis 11
Meckel syndrome, type 3
RHYNS syndrome
6 conditions
Joubert syndrome 6
COACH syndrome 1
RHYNS syndrome
Nephronophthisis 11

Criteria Provided
Multiple Submitters
No Conflicts

CA114977

rs_201893408

17 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000534533 RCV000415055 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497 RCV005041963 RCV005357055

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
Meckel-Gruber syndrome
Joubert 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/Likely pathogenic

Joubert syndrome 6
Nephronophthisis
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
6 conditions
Joubert syndrome and related disorders
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA251773

rs_202149403

14 SubmittersRCV000001457 RCV000234813 RCV000418247 RCV001389251 RCV002490292 RCV004689399 RCV004732521

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

SNV
Germline

Chr17:58219149

Pathogenic/Likely pathogenic

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

No Assertion Criteria Provided

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342696

rs_199874059

8 SubmittersRCV000022414 RCV001038005 RCV003472957 RCV000668139 RCV001570919 RCV004732522

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

SNV
Germline

Chr17:58216088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213122

rs_386834048

19 SubmittersRCV000022415 RCV000201633 RCV000605128 RCV000666711 RCV004018536 RCV000341018 RCV000694137 RCV001123802 RCV004528065

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

SNV
Germline

Chr17:58206479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA251777

rs_137853105

10 SubmittersRCV000001458 RCV000626942 RCV001239533 RCV000665962 RCV001578018 RCV001729331 RCV004532272 RCV004566669 RCV005357056

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

4 SubmittersRCV000002070 RCV003330381

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

SNV
Germline

Chr6:135457594

Pathogenic

Joubert syndrome 3
Joubert syndrome

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
Joubert syndrome

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
Global developmental delay
Typical Joubert syndrome MRI findings

Criteria Provided
Multiple Submitters
No Conflicts

CA249938

rs_121434350

3 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
Joubert syndrome

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
Joubert syndrome
Joubert syndrome with ocular defect
Condition: not provided
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA252048

rs_121434351

10 SubmittersRCV000002092 RCV000463110 RCV001172382 RCV001582460 RCV004752680

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

SNV
Germline

Chr3:132696798

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA115660

rs_267606916

10 SubmittersRCV000002759 RCV000234832 RCV001330459 RCV001529627 RCV002281691 RCV002496237 RCV005222662

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

SNV
Germline

Chr2:110129185

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348086755

rs_1233478832

4 SubmittersRCV000003682 RCV001851623 RCV003466796 RCV005016232

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

SNV
Germline

Chr2:110163048

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116310

rs_121907899

14 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004018547 RCV005025001 RCV004814818

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

SNV
Germline

Chr6:135457660

Pathogenic

Joubert syndrome 3
Condition: not provided
Retinal dystrophy
Joubert syndrome with ocular defect
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA259900

rs_201391050

6 SubmittersRCV000023739 RCV000255060 RCV001074225 RCV001172379 RCV001390240

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

SNV
Germline

Chr6:135448432

Pathogenic

Joubert syndrome 3
Joubert syndrome

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
Condition: not provided

Criteria Provided
Single Submitter

CA342750

rs_367543065

2 SubmittersRCV000023788 RCV004808556

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

SNV
Germline

Chr7:130440932

Pathogenic

Joubert syndrome 15

No Assertion Criteria Provided

CA369289478

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

CA4485569

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

CA369287167

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

CA406008844

rs_1487082103

2 SubmittersRCV000023919 RCV003330400

NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)

SNV
Germline

Chr4:15596110

Conflicting classifications of pathogenicity

Joubert syndrome 9/15, digenic
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA129547

rs_387907058

5 SubmittersRCV000023923 RCV000594523 RCV001852033 RCV004532401

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

SNV
Germline

Chr12:123699702

Pathogenic/Likely pathogenic

Meckel syndrome, type 8
TCTN2-related disorder
Condition: not provided
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 24
Joubert syndrome 24
Meckel syndrome, type 8
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA129649

rs_374349989

11 SubmittersRCV000024072 RCV000305893 RCV000727919 RCV001261610 RCV002513219 RCV003987331 RCV005007893 RCV003993750

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

SNV
Germline

Chr17:19347782

Pathogenic/Likely pathogenic

Meckel syndrome, type 9
Condition: not provided
Joubert syndrome
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
Joubert syndrome
Joubert syndrome and related disorders
Condition: not provided
TMEM237-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA260000

rs_199469707

14 SubmittersRCV000024179 RCV000034999 RCV002265568 RCV001701641 RCV004748538

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA222872146

rs_917404097

6 SubmittersRCV000024186 RCV002271376 RCV004724755

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/Likely pathogenic

Joubert syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA260010

rs_387907133

3 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
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA260012

rs_387907135

6 SubmittersRCV000024190 RCV004586023

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
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA342791

rs_367543061

10 SubmittersRCV000024218 RCV000522403 RCV002271377 RCV003444055 RCV005031455

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342792

rs_367543062

6 SubmittersRCV000024219 RCV000763545 RCV004526599 RCV005234796

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

SNV
Germline

Chr5:37183377

Pathogenic

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

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
Joubert syndrome 17
Orofaciodigital syndrome type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342796

rs_139675596

9 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

CA396110679

rs_1596988259

1 SubmittersRCV000030828

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

SNV
Germline

Chr16:75556198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA130590

rs_397514609

3 SubmittersRCV000033041 RCV001778672 RCV002513310

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

SNV
Germline

Chr16:75542641

Conflicting classifications of pathogenicity

Joubert syndrome 20
Condition: not provided
Joubert syndrome 20
Meckel syndrome, type 11
Inborn genetic diseases
Joubert syndrome and related disorders
TMEM231-related disorder

Criteria Provided
Conflicting Classifications

CA130593

rs_200799769

8 SubmittersRCV000033042 RCV000255979 RCV000543480 RCV002513311 RCV003155046 RCV004755755

NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter)

SNV
Germline

ChrX:13753411

Pathogenic

Orofaciodigital syndrome I
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Multiple Submitters
No Conflicts

CA343946

rs_312262863

3 SubmittersRCV000033955 RCV001781339 RCV002514145

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

SNV
Germline

ChrX:13736487

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA343958

rs_312262810

2 SubmittersRCV001383219 RCV002496509

NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)

SNV
Germline

ChrX:13736626

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343997

rs_312262818

2 SubmittersRCV000687996 RCV004696645

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

SNV
Germline

Chr4:15553306

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144216

rs_386833747

4 SubmittersRCV000049711 RCV002513686 RCV005250005

NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)

SNV
Germline

Chr4:15557451

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144217

rs_386833748

4 SubmittersRCV000049712 RCV001853048 RCV000778721 RCV001753469

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

SNV
Germline

Chr4:15567729

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA144225

rs_386833752

5 SubmittersRCV000049716 RCV000201581 RCV001539860 RCV002514252 RCV001007916

NM_001378615.1(CC2D2A):c.3399-3C>A

SNV
Germline

Chr4:15569290

Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA144227

rs_386833753

2 SubmittersRCV000049717 RCV001346597

NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)

SNV
Germline

Chr4:15570446

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
CC2D2A-related disorder
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA144229

rs_386833755

7 SubmittersRCV000049719 RCV003335082 RCV001378831 RCV001723639 RCV005031533

NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)

SNV
Germline

Chr4:15510217

Pathogenic

Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144239

rs_386833763

7 SubmittersRCV000049727 RCV004700347 RCV005031535 RCV001853050

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

SNV
Germline

Chr11:61397797

Pathogenic

Meckel syndrome, type 2
Joubert syndrome 2
Condition: not provided
TMEM216-related disorder
Joubert syndrome
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA144308

rs_11230683

12 SubmittersRCV000049797 RCV000201650 RCV000760437 RCV000779067 RCV000822982 RCV001787335

NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)

SNV
Germline

Chr17:58214784

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344757

rs_386834050

5 SubmittersRCV000050036 RCV001382376 RCV003474635 RCV000760436 RCV004732640

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

SNV
Germline

Chr17:58214740

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344762

rs_201933838

8 SubmittersRCV000050037 RCV000671081 RCV001220121 RCV003474636 RCV004696672

NM_017777.4(MKS1):c.958G>A (p.Val320Ile)

SNV
Germline

Chr17:58210980

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Leber congenital amaurosis 6
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA344764

rs_386834053

7 SubmittersRCV000050040 RCV000735097 RCV001853066 RCV003474638 RCV000735871 RCV005025107

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

SNV
Germline

Chr12:88114488

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 10
Condition: not provided
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641

NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)

SNV
Germline

Chr12:88139153

Pathogenic/Likely pathogenic

Meckel syndrome, type 4
Condition: not provided
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Retinal dystrophy
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA144391

rs_386834153

10 SubmittersRCV000050147 RCV001091341 RCV001274137 RCV001053674 RCV004760362 RCV004814991 RCV003466923

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

SNV
Germline

Chr8:93781725

Pathogenic/Likely pathogenic

Meckel syndrome, type 3
Joubert syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
TMEM67-related disorder
6 conditions
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144430

rs_386834180

9 SubmittersRCV000050175 RCV000201777 RCV000560903 RCV000778866 RCV002477175 RCV000114240 RCV001267954

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
Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA144435

rs_386834182

9 SubmittersRCV000050177 RCV000430117 RCV001804788 RCV001853069 RCV005042162

NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)

SNV
Germline

Chr8:93786256

Pathogenic/Likely pathogenic

Meckel syndrome, type 3
6 conditions
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144439

rs_386834183

3 SubmittersRCV000050178 RCV005394287 RCV000823807

NM_153704.6(TMEM67):c.1413-1G>C

SNV
Germline

Chr8:93787843

Pathogenic

Meckel syndrome, type 3
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA144449

rs_386834185

2 SubmittersRCV000050180 RCV000694518

NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu)

SNV
Germline

Chr8:93804796

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA144461

rs_386834193

4 SubmittersRCV000050187 RCV000393971 RCV002514270 RCV005049412

NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys)

SNV
Germline

Chr8:93808928

Pathogenic

Meckel syndrome, type 3
TMEM67-related disorder
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA144466

rs_386834194

3 SubmittersRCV000050188 RCV004537237 RCV005213202

NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)

SNV
Germline

Chr8:93758557

Pathogenic

Meckel syndrome, type 3
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA144487

rs_386834201

2 SubmittersRCV000050195 RCV002514271

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

SNV
Germline

Chr8:93772612

Pathogenic

Meckel syndrome, type 3
Joubert syndrome 6
Joubert syndrome
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

8 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_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr16:53649038

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA281341870

rs_267604575

3 SubmittersRCV001220267 RCV004017384 RCV005016358

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
Retinal dystrophy
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA220570

rs_189320299

7 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380 RCV004815000 RCV004734635

NM_003611.3(OFD1):c.54A>G (p.Glu18=)

SNV
Germline

ChrX:13735289

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA222228

rs_147114577

6 SubmittersRCV000251169 RCV000723696 RCV001518323 RCV004019554

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

SNV
Germline

Chr16:53649119

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223182

rs_201380599

7 SubmittersRCV000081722 RCV000636978 RCV001120738 RCV001120739 RCV001118787 RCV001573698

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

SNV
Germline

Chr16:53641066

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA148755

rs_144313291

8 SubmittersRCV000081725 RCV000280063 RCV000323400 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
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000402012 RCV000408211 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
Nephronophthisis 3
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA201362

rs_398124546

7 SubmittersRCV000175246 RCV002281916 RCV002513853 RCV004528299 RCV004593987 RCV005031572

NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)

SNV
Germline

Chr2:27447544

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Joubert syndrome
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA149724

rs_587777079

5 SubmittersRCV000083270 RCV000201713 RCV002483158 RCV003225027 RCV005213205

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

SNV
Germline

Chr16:1587961

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Jeune thoracic dystrophy
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA149747

rs_431905521

7 SubmittersRCV000083297 RCV000626469 RCV000515922 RCV004815018 RCV005016363 RCV004579537

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

SNV
Germline

Chr12:88089247

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227967

rs_62640581

9 SubmittersRCV000086289 RCV001199210 RCV002498466 RCV001216498 RCV001831897 RCV003467011

NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)

SNV
Germline

Chr12:88083888

Pathogenic

Condition: not provided
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
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

CA227973

rs_62640574

6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008

NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Retinitis pigmentosa
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
CEP290-related ciliopathy
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

CA227975

rs_62638179

10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009

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

SNV
Germline

Chr8:67158540

Pathogenic

Joubert syndrome 21
Condition: not provided
CSPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150605

rs_587777138

5 SubmittersRCV000087066 RCV004719692 RCV004757126

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
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA150849

rs_144439937

11 SubmittersRCV000114164 RCV001082503 RCV000423044 RCV001149500 RCV001149501

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

Criteria Provided
Conflicting Classifications

CA150861

rs_187003641

8 SubmittersRCV000114170 RCV000176277 RCV000515156 RCV000636974 RCV001146035 RCV001146036 RCV001719852 RCV004529912

NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)

SNV
Germline

Chr4:15502879

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Condition: not provided
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA150875

rs_377177061

8 SubmittersRCV000114178 RCV000596321 RCV001074483 RCV001056175 RCV003317090 RCV004698824 RCV005025174

NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)

SNV
Germline

Chr4:15596154

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Condition: not provided
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA150879

rs_368720062

3 SubmittersRCV000114180 RCV002284363 RCV005031597

NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)

SNV
Germline

Chr4:15596177

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA150882

rs_587779732

5 SubmittersRCV000114181 RCV001854529 RCV004721263 RCV005252759

NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)

SNV
Germline

Chr12:88092700

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA150905

rs_372190684

4 SubmittersRCV000114194 RCV000636999 RCV001831902 RCV004542807

NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)

SNV
Germline

Chr12:88079219

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Condition: not provided
Joubert syndrome 5
Senior-Loken syndrome 6
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Kidney disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA150915

rs_61941020

18 SubmittersRCV000114201 RCV000336982 RCV000352237 RCV000399104 RCV000436165 RCV000292636 RCV000407985 RCV001084256 RCV001826782 RCV002294031 RCV003888506

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

SNV
Germline

Chr12:123686870

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 8
Condition: not provided
Joubert syndrome 24

Criteria Provided
Conflicting Classifications

CA150964

rs_79251326

8 SubmittersRCV000114230 RCV000204827 RCV000625192 RCV003390794 RCV001110871

NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)

SNV
Germline

Chr8:93786243

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA150984

rs_35765535

8 SubmittersRCV000114242 RCV000200297 RCV001161604 RCV001719853

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

SNV
Germline

Chr8:93799678

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
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_153704.6(TMEM67):c.748G>A (p.Gly250Arg)

SNV
Germline

Chr8:93780626

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA151009

rs_587779736

3 SubmittersRCV000114249 RCV002514565 RCV005042203

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

SNV
Germline

Chr9:136430288

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162216

rs_368178771

8 SubmittersRCV000122098 RCV000562404 RCV000726658 RCV000471241 RCV000763642 RCV003460861

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

SNV
Germline

Chr10:102615273

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162222

rs_79299301

11 SubmittersRCV000122100 RCV000260834 RCV001354923 RCV000466509 RCV000566455 RCV003467081 RCV000763641 RCV004737208

NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)

SNV
Germline

Chr10:102615350

Conflicting classifications of pathogenicity

not specified
Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Basal cell nevus syndrome 2

Criteria Provided
Conflicting Classifications

CA162225

rs_149449923

8 SubmittersRCV000122101 RCV000525787 RCV001009905 RCV003126503 RCV004567055 RCV005025197

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000262275 RCV000361419 RCV000297299 RCV000321698 RCV000475858 RCV000266641 RCV002505080 RCV001274128 RCV002294036

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

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000293222 RCV000337209 RCV000279934 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037

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

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

8 SubmittersRCV000124248 RCV000319253 RCV000259368 RCV000354431 RCV000472139 RCV000267777 RCV000322977 RCV001812002 RCV001276489 RCV002294038

NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)

SNV
Germline

Chr6:135323233

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 3
Joubert syndrome
not specified
Optic atrophy

Criteria Provided
Conflicting Classifications

CA232849

rs_148000791

15 SubmittersRCV000132677 RCV000198715 RCV000304449 RCV000249126 RCV004815201

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

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

12 SubmittersRCV000193732 RCV000132681 RCV001110731 RCV000988879 RCV001110732 RCV000490488 RCV001109949 RCV001109950 RCV001272010 RCV001083794 RCV003888568

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

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

7 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV005252766

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

SNV
Germline

Chr6:135433119

Pathogenic/Likely pathogenic

Joubert syndrome 3
Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA270780

rs_587783013

10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV001262092 RCV003495112

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

SNV
Germline

Chr12:88089157

Pathogenic

Leber congenital amaurosis 10
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
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.3290-2A>G

SNV
Germline

Chr5:37201810

Pathogenic/Likely pathogenic

Orofaciodigital syndrome type 6
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA170946

rs_606231260

3 SubmittersRCV000144859 RCV005031649

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
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA271185

rs_201404524

4 SubmittersRCV000145385 RCV002055874 RCV005042285

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

SNV
Germline

Chr12:110640479

Conflicting classifications of pathogenicity

Joubert syndrome 13
Meckel-Gruber syndrome
Joubert 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
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000373904 RCV000390170 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
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
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 RCV001109956 RCV001110741 RCV001079764 RCV001110739 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
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046 RCV004815226

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

SNV
Germline

Chr12:88060951

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
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_025114.4(CEP290):c.1667T>A (p.Ile556Asn)

SNV
Germline

Chr12:88118527

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233677

rs_727503854

5 SubmittersRCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719

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

SNV
Germline

Chr2:110178520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234415

rs_140446520

9 SubmittersRCV000153590 RCV000195676 RCV000372811 RCV000515315 RCV000338020 RCV001535425 RCV001094558 RCV004734720

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

SNV
Germline

Chr16:53649028

Conflicting classifications of pathogenicity

Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA233780

rs_142349647

7 SubmittersRCV000284497 RCV000327884 RCV000384916 RCV000723738 RCV001085401 RCV001831948 RCV004528883

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

SNV
Germline

Chr4:15516005

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Condition: not provided
CC2D2A-related disorder
Meckel syndrome, type 6
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210291

rs_200407856

8 SubmittersRCV000198057 RCV000201663 RCV000597652 RCV004732713 RCV005031661

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
Meckel-Gruber syndrome
Joubert syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233625

rs_371086728

7 SubmittersRCV000281217 RCV000316406 RCV000375703 RCV000723801 RCV001088003 RCV004815224

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
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA233634

rs_199688524

3 SubmittersRCV000152940 RCV000313289 RCV000407945 RCV001089089

NM_025114.4(CEP290):c.5859C>T (p.Ala1953=)

SNV
Germline

Chr12:88071446

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA233668

rs_727503852

2 SubmittersRCV000152971 RCV001425231

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

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000400108 RCV000291841 RCV000344957 RCV000399776 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
Joubert syndrome
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Kidney disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA234809

rs_146902870

8 SubmittersRCV000252274 RCV000475862 RCV001116965 RCV001116966 RCV001116967 RCV002294053 RCV001704116

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

SNV
Germline

Chr17:58206158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA273756

rs_199910690

9 SubmittersRCV000161135 RCV000324288 RCV001797645 RCV001082780 RCV001252740 RCV004724951 RCV001272920 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

3 SubmittersRCV000162151 RCV001332730

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

SNV
Germline

Chr12:110626360

Pathogenic

Global developmental delay
Typical Joubert syndrome MRI findings
Joubert syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA249937

rs_730882221

4 SubmittersRCV000162131 RCV000201626

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

SNV
Germline

Chr16:53696150

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert 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

Pathogenic

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

Criteria Provided
Single Submitter

CA334638

rs_786204222

2 SubmittersRCV000168353 RCV000665745

NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter)

SNV
Germline

Chr12:123706833

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA199170

rs_786204788

1 SubmittersRCV000169679

NM_017777.4(MKS1):c.417+1G>A

SNV
Germline

Chr17:58216087

Pathogenic/Likely pathogenic

Condition: not provided
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235986

rs_756368560

4 SubmittersRCV000171264 RCV001826869 RCV003474920 RCV001063303

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

SNV
Germline

Chr4:15596208

Pathogenic

Condition: not provided
Joubert syndrome 9

Criteria Provided
Single Submitter

CA236210

rs_786205568

1 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

5 SubmittersRCV000173201 RCV001430941 RCV003965240

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

SNV
Germline

Chr11:61392636

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Meckel syndrome, type 2
Joubert syndrome 2
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

CA238698

rs_569734777

5 SubmittersRCV000345023 RCV000173235 RCV000391281 RCV001094053 RCV004535185

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

SNV
Germline

Chr12:123671239

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA238978

rs_141768405

3 SubmittersRCV000724112 RCV001510325

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

SNV
Germline

Chr8:93754939

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TMEM67-related disorder
6 conditions
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA200630

rs_199961375

7 SubmittersRCV000173581 RCV001704249 RCV004539599 RCV002485119 RCV000860917 RCV000988093

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

SNV
Germline

Chr2:110161690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239098

rs_371112962

4 SubmittersRCV000173662 RCV000353470 RCV000390136 RCV000305677 RCV001094562

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

SNV
Germline

Chr2:110161645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239100

rs_794726975

3 SubmittersRCV000173663 RCV001852113 RCV002500458

NM_003611.3(OFD1):c.936-2A>G

SNV
Germline

ChrX:13751247

Conflicting classifications of pathogenicity

Condition: not provided
Congenital anomaly of kidney and urinary tract
OFD1-related disorder
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA239242

rs_199902986

5 SubmittersRCV000173783 RCV001254710 RCV004535188 RCV001088503

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

SNV
Germline

Chr16:53664957

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder
Optic atrophy

Criteria Provided
Conflicting Classifications

CA239324

rs_137982921

13 SubmittersRCV000339807 RCV000401583 RCV000307599 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604 RCV004816258

NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)

SNV
Germline

Chr16:53658782

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

CA200839

rs_138155747

12 SubmittersRCV000223981 RCV000174130 RCV001082949 RCV001271335 RCV001120841

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

SNV
Germline

Chr5:37227308

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
not specified

Criteria Provided
Conflicting Classifications

CA239661

rs_374411782

7 SubmittersRCV000724006 RCV000325656 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
Meckel-Gruber syndrome
TMEM67-related disorder
Joubert syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200867

rs_140191346

7 SubmittersRCV000174181 RCV001409831 RCV004539607 RCV000988094 RCV001356583

NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)

SNV
Germline

Chr4:15516723

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA239791

rs_760839591

4 SubmittersRCV000174275 RCV002516624 RCV001423715

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

SNV
Germline

Chr12:110645106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 13

Criteria Provided
Conflicting Classifications

CA239794

rs_201894544

5 SubmittersRCV000243338 RCV000724004 RCV001085845 RCV003137704

NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)

SNV
Germline

Chr12:110645045

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA239797

rs_370336923

4 SubmittersRCV000253154 RCV000724607 RCV001078872

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

SNV
Germline

Chr17:58208585

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 28
Meckel syndrome, type 1
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_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)

SNV
Germline

Chr12:110647264

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
TCTN1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA240051

rs_368907353

6 SubmittersRCV000724086 RCV002056921 RCV003895182 RCV003150968

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

SNV
Germline

Chr2:110146839

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240230

rs_151204566

8 SubmittersRCV000174670 RCV000230927 RCV001128803 RCV001128802 RCV001699052 RCV001128804

NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=)

SNV
Germline

Chr16:53652875

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA240561

rs_779429646

4 SubmittersRCV000174930 RCV001271330 RCV001088867 RCV004732739

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

SNV
Germline

Chr5:37221446

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA240601

rs_794727154

3 SubmittersRCV000174951 RCV000611123

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

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV001084413 RCV001112002 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV000835406

NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)

SNV
Germline

ChrX:13760628

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA240715

rs_746300545

3 SubmittersRCV000175046 RCV000701169 RCV004821992

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

SNV
Germline

Chr4:15537971

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240849

rs_201439617

7 SubmittersRCV000724892 RCV000765755 RCV001479910 RCV001147083 RCV001147084 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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA206244

rs_16892134

10 SubmittersRCV000193025 RCV000351496 RCV000514696 RCV000404783 RCV001083444

NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=)

SNV
Germline

Chr16:53645869

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA240914

rs_794727193

2 SubmittersRCV000175208 RCV001852144

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

SNV
Germline

Chr16:53645665

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis 8
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

CA201346

rs_139503476

7 SubmittersRCV000175209 RCV000514096 RCV001120642 RCV001120644 RCV001082641 RCV004537378 RCV001120643

NM_017777.4(MKS1):c.1506G>A (p.Ser502=)

SNV
Germline

Chr17:58206365

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA240920

rs_368535131

3 SubmittersRCV000175214 RCV000280084 RCV000374576 RCV001087215

NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)

SNV
Germline

Chr4:15540996

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA241001

rs_768337150

3 SubmittersRCV000175278 RCV001506609 RCV004539625

NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)

SNV
Germline

Chr4:15540883

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
CC2D2A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201370

rs_190698163

6 SubmittersRCV000175280 RCV000863197 RCV005305973 RCV004539627 RCV001711970

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

SNV
Germline

Chr4:15540872

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1
Inborn genetic diseases
CC2D2A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA241005

rs_200236654

8 SubmittersRCV000175281 RCV001145224 RCV001145223 RCV001239969 RCV001329599 RCV004965296 RCV004537379 RCV004816268

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

SNV
Germline

Chr4:15540994

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 1
Meckel syndrome, type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201373

rs_199768782

8 SubmittersRCV000175282 RCV000860615 RCV000987417 RCV001147192 RCV003436969

NM_025114.4(CEP290):c.1716A>G (p.Leu572=)

SNV
Germline

Chr12:88117141

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA241104

rs_372349042

6 SubmittersRCV000175368 RCV000724312 RCV001088014 RCV001275034

NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)

SNV
Germline

Chr6:135411501

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA241966

rs_373772212

5 SubmittersRCV000176103 RCV001698990 RCV001396553

NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala)

SNV
Germline

Chr8:93799649

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA242109

rs_781383498

3 SubmittersRCV000176240 RCV003230435 RCV003765092

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

SNV
Germline

Chr5:37187826

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242230

rs_145520487

9 SubmittersRCV000201620 RCV000254359 RCV004020091 RCV000724250

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
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
Chronic kidney disease
Connective tissue disorder
Asphyxiating thoracic dystrophy 4

Criteria Provided
Conflicting Classifications

CA201936

rs_146496725

12 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001135582 RCV001085304 RCV001171333 RCV002277374 RCV001135581

NM_025114.4(CEP290):c.2487A>G (p.Glu829=)

SNV
Germline

Chr12:88107095

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA242475

rs_371159780

5 SubmittersRCV000176500 RCV003150970 RCV001074978 RCV001086387

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
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA242574

rs_202103224

6 SubmittersRCV000176587 RCV001153832 RCV004020097 RCV005031711

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

SNV
Germline

Chr12:88102849

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

11 SubmittersRCV000176690 RCV000660467 RCV001113515 RCV001082205 RCV000192651 RCV001111528 RCV001111529 RCV001275025 RCV004816280 RCV001113514 RCV004528939

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

SNV
Germline

Chr11:61393958

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Joubert syndrome 2

Criteria Provided
Conflicting Classifications

CA202293

rs_57932685

5 SubmittersRCV000177125 RCV000533045 RCV001279272

NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)

SNV
Germline

Chr17:58216714

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346867

rs_142813109

14 SubmittersRCV000177294 RCV000514445 RCV001079449 RCV004528943 RCV000351197 RCV000399365

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

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000400157 RCV000300808 RCV000335768 RCV000348352 RCV001699223 RCV000198308 RCV001826899 RCV000401126 RCV004528944

NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)

SNV
Germline

Chr12:88087872

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
not specified
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA244173

rs_184143186

8 SubmittersRCV000177662 RCV001273073 RCV003150971 RCV004975310 RCV001080328

NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

11 SubmittersRCV001036300 RCV000523279 RCV001826904 RCV004816287 RCV002222427 RCV001376454 RCV003468864 RCV005003531

NM_025114.4(CEP290):c.5013-7A>C

SNV
Germline

Chr12:88080402

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA244955

rs_762217156

2 SubmittersRCV000177954 RCV001496142

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

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

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

NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)

SNV
Germline

Chr16:53692113

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245348

rs_74957591

6 SubmittersRCV001080714 RCV000178300 RCV004537460 RCV001271342 RCV005268563

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
Joubert syndrome 17
Orofaciodigital syndrome type 6
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA245417

rs_139496915

6 SubmittersRCV000178339 RCV001152760 RCV004020121 RCV005042388 RCV004752778

NM_024809.5(TCTN2):c.429T>C (p.Ile143=)

SNV
Germline

Chr12:123673776

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA245445

rs_188417716

2 SubmittersRCV000178367 RCV002054112

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

SNV
Germline

Chr5:37142481

Conflicting classifications of pathogenicity

Condition: not provided
See cases
Orofaciodigital syndrome type 6
CPLANE1-related disorder
Inborn genetic diseases
Joubert syndrome 17
not specified
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA275274

rs_151279194

13 SubmittersRCV000178539 RCV002287379 RCV003457649 RCV004752779 RCV004020124 RCV000778764 RCV001824663 RCV005031712

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

SNV
Germline

Chr5:37125240

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245783

rs_199810663

10 SubmittersRCV000247706 RCV000428354 RCV000321409 RCV003891741 RCV005621904

NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)

SNV
Germline

Chr12:88060900

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA202959

rs_191613017

5 SubmittersRCV000178636 RCV001697163 RCV000637007 RCV001272011

NM_025114.4(CEP290):c.6523-6T>C

SNV
Germline

Chr12:88060026

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245845

rs_794727692

3 SubmittersRCV000178672 RCV001451553 RCV002517742

NM_001128178.3(NPHP1):c.330-4G>A

SNV
Germline

Chr2:110170002

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245909

rs_774162169

4 SubmittersRCV000178744 RCV003586162 RCV005025286 RCV004539674

NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)

SNV
Germline

Chr4:15480745

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246013

rs_794727713

3 SubmittersRCV000178830 RCV003765100 RCV005305976

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
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA246806

rs_149925563

9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001087340 RCV001132639 RCV001132638 RCV004537489

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

SNV
Germline

Chr12:123686991

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 24
Meckel syndrome, type 8
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA246813

rs_149430216

7 SubmittersRCV000249746 RCV000724485 RCV001110188 RCV001114227 RCV001086250

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

SNV
Germline

Chr12:123686886

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 24
Meckel syndrome, type 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203333

rs_147485641

7 SubmittersRCV000179535 RCV000556780 RCV001112867 RCV001112868 RCV001550115

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

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

7 SubmittersRCV001085617 RCV001112634 RCV000179537 RCV003488430 RCV004539683 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636

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

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

13 SubmittersRCV000724859 RCV000179538 RCV001275047 RCV001526756 RCV005008108 RCV001082749 RCV004537490 RCV005305978

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

SNV
Germline

Chr4:15502836

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA247115

rs_202150325

9 SubmittersRCV000248937 RCV000275309 RCV000365106 RCV000724326 RCV001082303

NM_001082538.3(TCTN1):c.823-4C>G

SNV
Germline

Chr12:110636477

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA247118

rs_754017886

2 SubmittersRCV000179810 RCV001852237

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

SNV
Germline

Chr12:123688096

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 24
Meckel syndrome, type 8
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203516

rs_144567556

7 SubmittersRCV000179977 RCV000275193 RCV000327984 RCV000465788 RCV001721126

NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)

SNV
Germline

Chr4:15510201

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA247569

rs_190694237

5 SubmittersRCV000245560 RCV000295467 RCV000317762 RCV000532465 RCV003128590 RCV004528955

NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile)

SNV
Germline

Chr12:110640473

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 13
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA247572

rs_118057448

6 SubmittersRCV000180204 RCV001111502 RCV001323802

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

SNV
Germline

Chr6:135457612

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
not specified
Inborn genetic diseases
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247748

rs_200927282

6 SubmittersRCV001206260 RCV001155546 RCV000250813 RCV002517761 RCV004816310 RCV000724880

NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)

SNV
Germline

Chr4:15511309

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA248036

rs_556542553

4 SubmittersRCV000180554 RCV001497046 RCV004537512 RCV005031717

NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln)

SNV
Germline

Chr6:135455921

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA248175

rs_371243793

5 SubmittersRCV000724597 RCV001226983 RCV004020179 RCV005031718

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

SNV
Germline

Chr5:37231020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA248228

rs_373704405

5 SubmittersRCV000180684 RCV000201580 RCV005031719

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

SNV
Germline

Chr14:58456701

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA204047

rs_757350052

8 SubmittersRCV000186591 RCV000652577 RCV000479178

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA204583

rs_764091969

3 SubmittersRCV000190630 RCV002517029

NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)

SNV
Germline

Chr14:58428458

Pathogenic

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

Criteria Provided
Single Submitter

CA214894

rs_797045119

2 SubmittersRCV000190840 RCV005222820

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.891T>C (p.Tyr297=)

SNV
Germline

Chr4:15515878

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA208012

rs_797045438

2 SubmittersRCV000194084 RCV002517060

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

SNV
Germline

Chr4:15538112

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
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
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
CC2D2A-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA209079

rs_764719093

6 SubmittersRCV000194720 RCV000763523 RCV003765214 RCV005025311 RCV004528978 RCV003238731

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
Joubert syndrome
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

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

Criteria Provided
Conflicting Classifications

CA209579

rs_372671421

9 SubmittersRCV000265440 RCV000195028 RCV000301860 RCV000361304 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
Condition: not provided
Joubert syndrome 17
Intellectual disability

Criteria Provided
Conflicting Classifications

CA206075

rs_141911199

10 SubmittersRCV000192922 RCV000726605 RCV000625259 RCV005621910

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
Joubert syndrome

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
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1

Criteria Provided
Conflicting Classifications

CA205731

rs_797046045

4 SubmittersRCV000192720 RCV000201747 RCV003765239 RCV004783761

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

SNV
Germline

Chr9:136433044

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
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
Joubert syndrome
Joubert syndrome 1
Inborn genetic diseases
INPP5E-related disorder
Joubert syndrome 1
MORM syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209401

rs_199873582

8 SubmittersRCV000194920 RCV001044083 RCV001166425 RCV002517084 RCV004528981 RCV005042414 RCV005252804

NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)

SNV
Germline

Chr12:88071409

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA208989

rs_780570235

3 SubmittersRCV000194670 RCV000867286 RCV004530109

NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)

SNV
Germline

Chr12:88092734

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA206711

rs_11836796

4 SubmittersRCV000193317 RCV001487901 RCV004530107

NM_025114.4(CEP290):c.1440A>G (p.Glu480=)

SNV
Germline

Chr12:88120196

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA206543

rs_777299440

3 SubmittersRCV000193213 RCV000870071 RCV004541238

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

SNV
Germline

Chr16:53641352

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Nephronophthisis 8
Condition: not provided
Joubert syndrome 7
Inborn genetic diseases
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA207998

rs_146197239

10 SubmittersRCV000194076 RCV000861106 RCV001117063 RCV001117062 RCV001698998 RCV001117064 RCV002517128 RCV001833139

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

SNV
Germline

Chr16:53687963

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 8
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome
Joubert syndrome 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206389

rs_140067659

9 SubmittersRCV000193122 RCV001120943 RCV000861107 RCV001120944 RCV001271340 RCV001120942 RCV004020339 RCV001699228

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.1436G>A (p.Arg479His)

SNV
Germline

Chr17:58206519

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA206807

rs_111315726

10 SubmittersRCV000193368 RCV000224657 RCV001082508 RCV001128313 RCV001128312

NM_017777.4(MKS1):c.1158A>G (p.Glu386=)

SNV
Germline

Chr17:58208112

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA209743

rs_797045705

3 SubmittersRCV000195124 RCV002056997 RCV004541246

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

SNV
Germline

Chr17:58212996

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA347417

rs_797045706

5 SubmittersRCV000194216 RCV000672938 RCV003765230 RCV003474946

NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly)

SNV
Germline

ChrX:13757717

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA205291

rs_754484224

2 SubmittersRCV000192458 RCV002054273

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

SNV
Germline

ChrX:13763840

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
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

Leber congenital amaurosis 10
Bardet-Biedl syndrome
Meckel syndrome, type 4
Senior-Loken syndrome 6
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
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
not specified
Inborn genetic diseases
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1

Criteria Provided
Conflicting Classifications

CA336743

rs_780427871

6 SubmittersRCV000196832 RCV000730183 RCV001128695 RCV001128696 RCV001135698 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
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA338306

rs_373960465

8 SubmittersRCV000350715 RCV000344416 RCV001087622 RCV000405623 RCV002227457 RCV004530191

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

SNV
Germline

Chr6:135318527

Conflicting classifications of pathogenicity

Joubert syndrome
not specified
Intellectual disability
Joubert syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA335852

rs_201148693

5 SubmittersRCV000195696 RCV000248598 RCV001252130 RCV001157001 RCV001596984

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

SNV
Germline

Chr6:135457656

Conflicting classifications of pathogenicity

Joubert syndrome
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

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 3
Joubert syndrome 6
Nephronophthisis 11
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336379

rs_115660279

6 SubmittersRCV000196386 RCV000291370 RCV000339372 RCV000377674 RCV000245192 RCV001705157

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

SNV
Germline

Chr8:93780603

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 6
Inborn genetic diseases
Condition: not provided
Abnormality of the nervous system
Nephronophthisis 11
COACH syndrome 1
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA277789

rs_775883520

12 SubmittersRCV000198666 RCV000201726 RCV000624166 RCV001090385 RCV001814102 RCV004798803 RCV002283466 RCV005042429

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
Joubert syndrome
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
Joubert syndrome
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
Germline

Chr4:15555209

Pathogenic

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210272

rs_200904521

2 SubmittersRCV000201574 RCV005222826

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/Likely pathogenic

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210338

rs_773881370

5 SubmittersRCV000201775 RCV004796099 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
COACH syndrome 1
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA210269

rs_370880399

10 SubmittersRCV000201572 RCV000489696 RCV000763524 RCV000702498 RCV000778722 RCV005031762 RCV005052801

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

SNV
Germline

Chr4:15563474

Pathogenic

Joubert syndrome 9
Joubert syndrome
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
Joubert syndrome
Meckel-Gruber syndrome
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
Joubert syndrome
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
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210258

rs_779823379

5 SubmittersRCV000201552 RCV001261604 RCV001853232 RCV005031761

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

SNV
Germline

Chr4:15586154

Conflicting classifications of pathogenicity

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA210298

rs_576298659

4 SubmittersRCV000201676 RCV002519579 RCV005031765 RCV004816346

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

SNV
Germline

Chr4:15586170

Conflicting classifications of pathogenicity

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA210320

rs_763486732

5 SubmittersRCV000201714 RCV001067961 RCV005031764 RCV003144159 RCV003323453

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
Joubert syndrome
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
Joubert syndrome
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
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
COACH syndrome 1
CC2D2A-related disorder
Neurodevelopmental disorder
Ciliopathy
Retinal dystrophy
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210318

rs_201502401

20 SubmittersRCV000201706 RCV000286210 RCV000474430 RCV000347415 RCV001266486 RCV001542750 RCV000778102 RCV002277554 RCV005365132 RCV004816345 RCV005031763 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
Joubert syndrome 17
Orofaciodigital syndrome type 6
Condition: not provided
Joubert syndrome
See cases
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA277758

rs_374144275

9 SubmittersRCV000201669 RCV000697060 RCV000357854 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
Orofaciodigital syndrome type 6
Joubert syndrome 17
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA277713

rs_141507441

9 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
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA277737

rs_147416429

6 SubmittersRCV000201628 RCV001332490 RCV002517309 RCV005042430

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

SNV
Germline

Chr5:37157810

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277813

rs_749523755

13 SubmittersRCV000201773 RCV000415153 RCV000255254 RCV000646703 RCV001198869

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

SNV
Germline

Chr5:37158258

Pathogenic/Likely pathogenic

Joubert syndrome 17
Condition: not provided
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA279479

rs_863225159

4 SubmittersRCV000201681 RCV004767146 RCV003987448

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

SNV
Germline

Chr5:37198775

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277732

rs_141153181

6 SubmittersRCV000201619 RCV000255261 RCV000677320 RCV005031759

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/Likely pathogenic

Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279485

rs_863225166

3 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
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA277756

rs_760906097

5 SubmittersRCV000201667 RCV001376973 RCV003897435 RCV005031758

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
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA279458

rs_863225163

6 SubmittersRCV000201655 RCV000362856 RCV005031757

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 and related disorders
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA277773

rs_530569572

7 SubmittersRCV000201692 RCV000523063 RCV003230448 RCV002478717

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

4 SubmittersRCV000201759 RCV001065433 RCV003390946

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

SNV
Germline

Chr5:37244521

Pathogenic/Likely pathogenic

Joubert syndrome 17
not specified
Condition: not provided
Nephronophthisis
Joubert syndrome and related disorders
CPLANE1-related disorder
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA277763

rs_756856188

11 SubmittersRCV000201674 RCV000500106 RCV000686452 RCV001328280 RCV003330576 RCV003907754 RCV005031760

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

SNV
Germline

Chr6:135427226

Conflicting classifications of pathogenicity

Joubert syndrome 3
not specified

Criteria Provided
Conflicting Classifications

CA277806

rs_368788993

2 SubmittersRCV000201756 RCV005237713

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

SNV
Germline

Chr6:135427244

Pathogenic

Joubert syndrome 3
Joubert syndrome
Condition: not provided
AHI1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279374

rs_863225135

4 SubmittersRCV000201566 RCV001240194 RCV001091216 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
Joubert syndrome

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
Joubert syndrome

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
Joubert syndrome
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA279352

rs_863225144

5 SubmittersRCV000201537 RCV000817125 RCV003237762 RCV003235125 RCV004816344

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

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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
Joubert syndrome

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
Joubert syndrome

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
Joubert syndrome
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
Joubert syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA277801

rs_371637724

4 SubmittersRCV000201739 RCV000702666 RCV004767145

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

SNV
Germline

Chr6:135455811

Pathogenic

Joubert syndrome 3
Retinal dystrophy
Condition: not provided
Joubert syndrome
Nephronophthisis
Joubert syndrome and related disorders
Rod-cone dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339611

rs_777668842

9 SubmittersRCV000201715 RCV001074545 RCV000482493 RCV000206729 RCV001328119 RCV003317148 RCV001376375

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

SNV
Germline

Chr6:135455818

Pathogenic

Joubert syndrome 3
Joubert syndrome
Condition: not provided
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279421

rs_863225143

6 SubmittersRCV000201621 RCV001853230 RCV004719748 RCV005237712

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

SNV
Germline

Chr6:135455928

Pathogenic

Joubert syndrome 3
Joubert syndrome

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
Joubert syndrome and related disorders
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA279546

rs_863225142

4 SubmittersRCV000201760 RCV003330575 RCV002287391

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

SNV
Germline

Chr6:135465901

Pathogenic

Joubert syndrome 3
Joubert syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279475

rs_863225138

4 SubmittersRCV000201668 RCV003765300 RCV002469064

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

4 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

3 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

3 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
Joubert syndrome
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
Joubert syndrome
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
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 6
Nephronophthisis 11
Meckel syndrome, type 3

Criteria Provided
Conflicting Classifications

CA277766

rs_750950408

4 SubmittersRCV000201683 RCV002222442 RCV001853242 RCV005621916

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
Joubert syndrome
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
Joubert syndrome
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
Joubert syndrome
Meckel-Gruber syndrome
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279392

rs_863225232

4 SubmittersRCV000201590 RCV005222828 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
Joubert syndrome
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
Inborn genetic diseases
Bardet-Biedl syndrome 14
Joubert syndrome 6
COACH syndrome 1
Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome
Renal cyst
Oligohydramnios
14 conditions
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 3
6 conditions

Criteria Provided
Conflicting Classifications

CA277817

rs_752362727

6 SubmittersRCV000201784 RCV000623940 RCV000763609 RCV000414925 RCV000627003 RCV001853244 RCV003997037 RCV005042432

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

SNV
Germline

Chr8:93786285

Pathogenic

Joubert syndrome 6
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA277776

rs_116647652

6 SubmittersRCV000201701 RCV001536330 RCV001853243 RCV005042431

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
Joubert syndrome
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
Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders
6 conditions

Criteria Provided
Conflicting Classifications

CA279453

rs_863225238

6 SubmittersRCV000201654 RCV001161723 RCV001163244 RCV001307480 RCV005437985 RCV005042433

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

SNV
Germline

Chr8:93803652

Pathogenic

Joubert syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277715

rs_751517725

5 SubmittersRCV000201592 RCV002515477 RCV002503793 RCV003128594

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
6 conditions

Criteria Provided
Conflicting Classifications

CA279557

rs_863225233

3 SubmittersRCV000201774 RCV001753605 RCV005049478

NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)

SNV
Germline

Chr9:136430325

Pathogenic/Likely pathogenic

Joubert syndrome
Rod-cone dystrophy
Condition: not provided
INPP5E-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277739

rs_752300607

5 SubmittersRCV000201629 RCV001376233 RCV001537183 RCV004530206

NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly)

SNV
Germline

Chr9:136430395

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279423

rs_863225197

2 SubmittersRCV000201622 RCV001775664

NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)

SNV
Germline

Chr9:136431090

Conflicting classifications of pathogenicity

Joubert syndrome
Rod-cone dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277743

rs_746867724

4 SubmittersRCV000201636 RCV001376305 RCV001775665

NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr)

SNV
Germline

Chr9:136431905

Conflicting classifications of pathogenicity

Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA277770

rs_757222534

2 SubmittersRCV000201688 RCV004526642

NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)

SNV
Unknown

Chr9:136432986

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA279520

rs_863225202

1 SubmittersRCV000201740

NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)

SNV
Germline

Chr9:136433073

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA279447

rs_863225201

4 SubmittersRCV000201647 RCV001753604 RCV004701264

NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)

SNV
Germline

Chr9:136433160

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279366

rs_863225200

2 SubmittersRCV000201546 RCV005237714

NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met)

SNV
Germline

Chr9:136433250

Pathogenic

Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279496

rs_863225198

2 SubmittersRCV000201710

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

SNV
Germline

Chr9:136434050

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277795

rs_780882740

4 SubmittersRCV000201735 RCV001267700 RCV001775666

NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu)

SNV
Germline

Chr9:136434127

Pathogenic

Joubert syndrome
INPP5E-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277720

rs_754637179

3 SubmittersRCV000201594 RCV004530207

NM_019892.6(INPP5E):c.907G>A (p.Val303Met)

SNV
Germline

Chr9:136434769

Pathogenic/Likely pathogenic

Joubert syndrome
Condition: not provided
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA277808

rs_746212325

4 SubmittersRCV000201762 RCV001559945 RCV005431549

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
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210256

rs_745688122

6 SubmittersRCV000201547 RCV000796275 RCV003227713 RCV004782310

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

SNV
Germline

Chr11:61393964

Conflicting classifications of pathogenicity

Joubert syndrome 2
Condition: not provided
Joubert syndrome
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
Joubert syndrome
Meckel syndrome, type 2
Joubert syndrome 2
TMEM216-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277700

rs_755459875

6 SubmittersRCV000201555 RCV000443367 RCV001853240 RCV002503792 RCV004530208

NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)

SNV
Germline

Chr12:123686884

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
not specified
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Conflicting Classifications

CA210323

rs_201827132

4 SubmittersRCV000201719 RCV001853239 RCV002222441 RCV005008143

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

SNV
Germline

Chr12:123694859

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel syndrome, type 8

Criteria Provided
Conflicting Classifications

CA210299

rs_187433682

2 SubmittersRCV000201680 RCV000310999

NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter)

SNV
Unknown

Chr12:123695276

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA279498

rs_863225221

1 SubmittersRCV000201712

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

SNV
Germline

Chr12:123704670

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210283

rs_201010803

3 SubmittersRCV000201600 RCV001582698 RCV001853238

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
Bardet-Biedl syndrome 14
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Retinal dystrophy
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

CA277735

rs_371525247

8 SubmittersRCV000201627 RCV000598256 RCV003468924 RCV001382359 RCV004798806 RCV004816348 RCV005003554

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

SNV
Germline

Chr12:88079112

Pathogenic

Joubert syndrome 5
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
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

9 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005623073 RCV005361163

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

SNV
Germline

Chr12:88083161

Pathogenic

Joubert syndrome 5
Cystic renal dysplasia
Occipital encephalocele
Blindness
Global developmental delay
Condition: not provided
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

12 SubmittersRCV000201672 RCV000626966 RCV000414892 RCV000493605 RCV000763311 RCV001271568 RCV002519581 RCV000806654 RCV004732783 RCV003462354 RCV004816347

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

SNV
Germline

Chr12:88084768

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

14 SubmittersRCV000201597 RCV000521437 RCV001828040 RCV001036850 RCV003155122 RCV002250594 RCV003468926 RCV002485329 RCV004816349

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

SNV
Germline

Chr12:88086083

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Occipital encephalocele
Leber congenital amaurosis
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Leber congenital amaurosis 10
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

16 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001030764 RCV001002937 RCV000816913 RCV001529566 RCV001589085 RCV004732782 RCV003468919

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

SNV
Germline

Chr12:88111226

Conflicting classifications of pathogenicity

Joubert syndrome 5
Retinal dystrophy
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA277728

rs_748034744

5 SubmittersRCV000201605 RCV001074504 RCV001471584 RCV005003555 RCV004975329

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

SNV
Germline

Chr12:88118642

Pathogenic

Joubert syndrome 5
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 4
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

CA279529

rs_863225186

5 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141

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

SNV
Germline

Chr12:88130283

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279451

rs_863225185

4 SubmittersRCV000201653 RCV000503197 RCV002519580 RCV003159108

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

Joubert syndrome
Joubert syndrome 33
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA210261

rs_17089782

9 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

3 SubmittersRCV000201703 RCV001781606

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

SNV
Germline

Chr14:58482712

Pathogenic

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

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
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Inborn genetic diseases
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277753

rs_778533826

6 SubmittersRCV000201661 RCV001853237 RCV002509297 RCV002517313 RCV002492927 RCV004732786

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
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279377

rs_863225218

3 SubmittersRCV000201573 RCV001853236 RCV005606653

NM_015681.6(B9D1):c.466C>T (p.Arg156Trp)

SNV
Germline

Chr17:19343796

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 27

Criteria Provided
Multiple Submitters
No Conflicts

CA210263

rs_369488112

2 SubmittersRCV000201564 RCV004796098

NM_015681.6(B9D1):c.285C>A (p.Phe95Leu)

SNV
Germline

Chr17:19347840

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA210334

rs_373478202

2 SubmittersRCV000201768 RCV000541544

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

SNV
Germline

Chr17:19360357

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 27
not specified
Meckel syndrome, type 9
Joubert syndrome 27

Criteria Provided
Conflicting Classifications

CA210301

rs_771170000

4 SubmittersRCV000201685 RCV000241546 RCV004586621 RCV005016558

NM_017777.4(MKS1):c.1589-2A>T

SNV
Germline

Chr17:58206172

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279509

rs_863225207

2 SubmittersRCV000201731 RCV002515476

NM_017777.4(MKS1):c.1389G>T (p.Arg463=)

SNV
Germline

Chr17:58207103

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA210309

rs_773269657

2 SubmittersRCV000201691 RCV001447386

NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser)

SNV
Unknown

Chr17:58207906

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA279550

rs_863225210

1 SubmittersRCV000201767

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

SNV
Germline

Chr17:58207959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA210326

rs_773684291

7 SubmittersRCV000201754 RCV000479872 RCV000984285 RCV000984284 RCV003230449 RCV000984286 RCV001853235 RCV004732785

NM_017777.4(MKS1):c.950G>A (p.Gly317Glu)

SNV
Unknown

Chr17:58210988

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA279387

rs_863225208

1 SubmittersRCV000201588

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

SNV
Germline

Chr17:58214763

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA210278

rs_779953982

5 SubmittersRCV000201596 RCV000675062 RCV001123799 RCV001123798 RCV002517312

NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr)

SNV
Germline

Chr17:58219176

Pathogenic

Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279536

rs_863225205

2 SubmittersRCV000201752 RCV001857741

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

SNV
Germline

Chr19:41354765

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 34
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210341

rs_750436680

3 SubmittersRCV000201776 RCV002265681 RCV001844085

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

SNV
Germline

Chr19:41355008

Pathogenic/Likely pathogenic

Joubert syndrome
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

Joubert syndrome
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
Orofaciodigital syndrome I
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279419

rs_863225213

4 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/Likely pathogenic

Joubert syndrome 10
Condition: not provided
Retinal dystrophy
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279372

rs_863225212

5 SubmittersRCV000201562 RCV000484195 RCV003888641 RCV001383220

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
Joubert syndrome
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

Joubert syndrome
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
Joubert syndrome 7
Polycystic kidney disease
Condition: not provided
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA348383

rs_2234917

12 SubmittersRCV000204140 RCV000253113 RCV001258257 RCV001292230 RCV001705172 RCV001000584

NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)

SNV
Germline

Chr8:93765416

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis 11

Criteria Provided
Multiple Submitters
No Conflicts

CA348322

rs_138783896

2 SubmittersRCV000204053 RCV001281327

NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)

SNV
Germline

ChrX:13738888

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA349854

rs_202103941

2 SubmittersRCV002057049 RCV004020507

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352256

rs_751962801

3 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
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057711

rs_148230131

8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV002500747 RCV001854774 RCV002519757 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
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8669502

rs_756853299

6 SubmittersRCV000224251 RCV000668874 RCV001049084 RCV003475049 RCV004732799

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
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057886

rs_79708859

8 SubmittersRCV000224232 RCV000253760 RCV001120842 RCV001120843 RCV001079549 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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
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
Meckel syndrome, type 1
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669556

rs_202112856

11 SubmittersRCV000224664 RCV000318559 RCV001126449 RCV000695608 RCV000765373 RCV001126448 RCV004541364

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

SNV
Germline

Chr12:88117076

Pathogenic

Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
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_025114.4(CEP290):c.297+1G>T

SNV
Germline

Chr12:88139144

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581686

rs_878853360

7 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003469116 RCV003155133 RCV005003571

NM_025114.4(CEP290):c.148C>T (p.His50Tyr)

SNV
Germline

Chr12:88140988

Likely pathogenic

Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA10581687

rs_878853363

2 SubmittersRCV000225409 RCV001854802

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

SNV
Germline

Chr4:15550968

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Retinal dystrophy
Optic atrophy

Criteria Provided
Conflicting Classifications

CA2863889

rs_200764366

7 SubmittersRCV000726192 RCV000765757 RCV001084783 RCV001150183 RCV001150184 RCV001150185 RCV004816440 RCV004816441

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

SNV
Germline

Chr4:15567721

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
CC2D2A-related disorder
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864143

rs_753770061

2 SubmittersRCV000283981 RCV000379534 RCV000338996 RCV001421061

NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)

SNV
Germline

Chr4:15574207

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA10582215

rs_375278294

4 SubmittersRCV000597765 RCV001383169 RCV003987465

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

SNV
Germline

Chr4:15597398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864387

rs_117667651

6 SubmittersRCV000233027 RCV000267027 RCV000363082 RCV000317484 RCV001576959 RCV004532860

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

SNV
Germline

Chr4:15597428

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
not specified
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA2864389

rs_186486235

5 SubmittersRCV000229439 RCV000318552 RCV000319463 RCV000385807

NM_016169.4(SUFU):c.169A>G (p.Ile57Val)

SNV
Germline

Chr10:102504321

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Medulloblastoma
Condition: not provided
Basal cell nevus syndrome 2
Joubert syndrome 32
Medulloblastoma
Familial meningioma
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5667602

rs_377614167

7 SubmittersRCV000232777 RCV000573039 RCV001106675 RCV002264924 RCV005031820 RCV005600869

NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)

SNV
Germline

Chr10:102599537

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5667839

rs_773037813

6 SubmittersRCV000231709 RCV001169975 RCV001017004 RCV003237794 RCV003463673

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

SNV
Germline

Chr12:88055666

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109948 RCV001109944 RCV001109946 RCV004725118

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

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

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

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

8 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413

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

SNV
Germline

Chr16:53619079

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
RPGRIP1L-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057257

rs_142317242

5 SubmittersRCV000232122 RCV000302183 RCV000359252 RCV000271829 RCV001271323 RCV004532945 RCV004955360

NM_017777.4(MKS1):c.1498A>G (p.Met500Val)

SNV
Germline

Chr17:58206373

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669097

rs_144635826

7 SubmittersRCV000316438 RCV000380158 RCV000513283 RCV001084685 RCV002519801 RCV004529411 RCV005396816

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

SNV
Germline

Chr17:58214359

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
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 RCV000728102 RCV000765372 RCV001122692 RCV001122693 RCV001820754 RCV002518354 RCV004532953

NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)

SNV
Germline

Chr10:95693450

Conflicting classifications of pathogenicity

not specified
Orofacial-digital syndrome IV
Joubert syndrome 18
Joubert syndrome 18

Criteria Provided
Conflicting Classifications

CA5621186

rs_749447795

5 SubmittersRCV000491257 RCV001343978 RCV002470827

NM_017777.4(MKS1):c.240G>T (p.Trp80Cys)

SNV
Germline

Chr17:58216687

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA400327736

rs_1114167302

1 SubmittersRCV000491898

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

SNV
Germline

Chr8:93799758

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome 6
Kidney disorder
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA4808233

rs_115563233

7 SubmittersRCV000234818 RCV000723708 RCV001087450 RCV001163248 RCV001163250 RCV001163249 RCV002294093 RCV004732810

NM_025114.4(CEP290):c.943-4C>T

SNV
Germline

Chr12:88126442

Conflicting classifications of pathogenicity

not specified
CEP290-related ciliopathies
Condition: not provided
Inborn genetic diseases
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712651

rs_199770158

8 SubmittersRCV000238918 RCV000509374 RCV000727048 RCV002519864 RCV001083590 RCV004816452

NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg)

SNV
Germline

Chr16:3508407

Likely pathogenic

Joubert syndrome

No Assertion Criteria Provided

CA7863689

rs_768663992

1 SubmittersRCV000496983

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

SNV
Germline

Chr17:6607209

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10586689

rs_886038200

5 SubmittersRCV000241533 RCV000506654 RCV002305473 RCV003225054

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

Likely pathogenic

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

Criteria Provided
Single Submitter

CA10586693

rs_886038203

2 SubmittersRCV000241543 RCV005025397

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_015681.6(B9D1):c.467G>A (p.Arg156Gln)

SNV
Germline

Chr17:19343795

Conflicting classifications of pathogenicity

Joubert syndrome 27
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Ciliopathy
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA10586695

rs_886038205

5 SubmittersRCV000241544 RCV001854947 RCV002251449 RCV005361490 RCV005406991

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_001044385.3(TMEM237):c.297A>G (p.Gln99=)

SNV
Germline

Chr2:201633409

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 14

Criteria Provided
Conflicting Classifications

CA2056521

rs_767711440

3 SubmittersRCV000248915 RCV001324708

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
Joubert syndrome
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
Joubert syndrome
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.1017+7G>A

SNV
Germline

Chr4:15516011

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863537

rs_137919504

3 SubmittersRCV000248826 RCV000726180 RCV001519252

NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)

SNV
Germline

Chr4:15599680

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864429

rs_199861496

4 SubmittersRCV000249958 RCV000726181 RCV001081653

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

Criteria Provided
Conflicting Classifications

CA2864494

rs_199945435

4 SubmittersRCV000251518 RCV000276457 RCV000326813 RCV000371188 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
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3237849

rs_201122718

6 SubmittersRCV000250100 RCV001153647 RCV000946041

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
Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3239077

rs_191239995

6 SubmittersRCV000252356 RCV000646713 RCV000625261

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

SNV
Germline

Chr6:135429867

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 3
Joubert syndrome

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
Joubert syndrome
Joubert syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012382

rs_191682790

5 SubmittersRCV000249053 RCV001462053 RCV001157121 RCV001705372

NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)

SNV
Germline

Chr6:135431282

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Retinal dystrophy
Joubert syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012400

rs_755688765

5 SubmittersRCV000249307 RCV001034978 RCV004816458 RCV005031834 RCV005251108

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

SNV
Germline

Chr7:130400226

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
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
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4807518

rs_767999682

5 SubmittersRCV000244178 RCV000274744 RCV000332073 RCV000388990 RCV000636980 RCV001727663

NM_153704.6(TMEM67):c.717A>G (p.Val239=)

SNV
Germline

Chr8:93780595

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Kidney failure

Criteria Provided
Conflicting Classifications

CA4807762

rs_111991507

5 SubmittersRCV000244943 RCV000867942 RCV001394370 RCV005625488

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
Joubert syndrome
Meckel-Gruber syndrome
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
Joubert syndrome
Meckel-Gruber syndrome

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
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis 11
Joubert syndrome 6
Meckel syndrome, type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4808442

rs_115967793

4 SubmittersRCV000243894 RCV000549204 RCV001168638 RCV001168637 RCV001168639 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

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

Criteria Provided
Conflicting Classifications

CA6034791

rs_111371929

4 SubmittersRCV000339313 RCV000377550 RCV000251656 RCV001562156

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

SNV
Germline

Chr12:110619913

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 13
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6786519

rs_145478892

5 SubmittersRCV000250228 RCV000403561 RCV000545652 RCV001555631 RCV003165691

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

SNV
Germline

Chr12:123686886

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Conflicting Classifications

CA6860944

rs_147485641

3 SubmittersRCV000253180 RCV001418301 RCV001112865 RCV001112866

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
Joubert syndrome
Meckel-Gruber syndrome

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

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV000297940 RCV000338834 RCV000342377 RCV001828148

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

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000270848 RCV000383188 RCV000860688 RCV000283968 RCV000328558 RCV000338967 RCV001833282 RCV001546981

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

SNV
Germline

Chr12:88118525

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6712494

rs_561018129

5 SubmittersRCV000249364 RCV001241555 RCV001195819 RCV005008220 RCV005318354

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

SNV
Germline

Chr12:88118708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001086907 RCV001109701 RCV001109703 RCV001572697 RCV001113718 RCV001113719 RCV001109702

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

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001311004 RCV001113799 RCV001275038 RCV001109774 RCV001113800 RCV001113801 RCV001113802

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

SNV
Germline

Chr16:53611044

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 5
Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Nephronophthisis 8
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8057230

rs_138724933

8 SubmittersRCV000246270 RCV000349270 RCV000296818 RCV000861085 RCV001675738 RCV000399116 RCV001271321

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
Joubert syndrome
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

Nephronophthisis 8
not specified
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8057298

rs_568801926

7 SubmittersRCV000281675 RCV000247114 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
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
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
Joubert syndrome
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_015681.6(B9D1):c.376T>A (p.Ser126Thr)

SNV
Germline

Chr17:19347297

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 9
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8440241

rs_201299216

5 SubmittersRCV000243872 RCV000293960 RCV000767171 RCV001088578

NM_017777.4(MKS1):c.1014G>A (p.Leu338=)

SNV
Germline

Chr17:58210669

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8669311

rs_201998680

6 SubmittersRCV000251480 RCV000371335 RCV000392760 RCV000863475 RCV001561974

NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)

SNV
Germline

Chr17:58212419

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA8669370

rs_201845569

6 SubmittersRCV000241612 RCV000725913 RCV001085441 RCV001271771

NM_017777.4(MKS1):c.515+12C>T

SNV
Germline

Chr17:58214729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669498

rs_372527189

4 SubmittersRCV000248513 RCV001122696 RCV001122697 RCV001520944

NM_017777.4(MKS1):c.468C>T (p.Val156=)

SNV
Germline

Chr17:58214788

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8669514

rs_199684837

3 SubmittersRCV000246006 RCV000731550 RCV001087262

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
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA3238910

rs_149170427

5 SubmittersRCV000255984 RCV001004928 RCV004556055 RCV005407000

NM_001134831.2(AHI1):c.2493-2A>G

SNV
Germline

Chr6:135428761

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10588410

rs_886039465

2 SubmittersRCV000255603 RCV005044513

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
Joubert syndrome 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2504099

rs_764109067

6 SubmittersRCV000256476 RCV001859504 RCV001092355

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

1 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_001077418.3(TMEM231):c.665-11T>C

SNV
Germline

Chr16:75541466

Conflicting classifications of pathogenicity

Joubert syndrome and related disorders
Meckel syndrome, type 11
Joubert syndrome 20
Joubert syndrome 20

Criteria Provided
Conflicting Classifications

CA10588978

rs_886039807

2 SubmittersRCV000256458 RCV003765571 RCV004813084

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

SNV
Germline

Chr5:37195997

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

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
Orofaciodigital syndrome type 6
Joubert syndrome 17
not specified

Criteria Provided
Conflicting Classifications

CA3239071

rs_533310477

6 SubmittersRCV001034653 RCV000764606 RCV000985139 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
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV002500965 RCV001833301 RCV003463734

NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter)

SNV
Germline

Chr16:53657545

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA8057784

rs_756821449

4 SubmittersRCV000365145 RCV000797386 RCV004535245 RCV005008228

NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)

SNV
Germline

Chr4:15557491

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864006

rs_61740537

9 SubmittersRCV000440940 RCV000373113 RCV001088602 RCV004542970

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

SNV
Germline

Chr17:58207143

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Bardet-Biedl syndrome
Joubert syndrome 28
not specified
Joubert syndrome
Meckel-Gruber syndrome
MKS1-related disorder
Optic atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8669161

rs_200865108

13 SubmittersRCV000280753 RCV001122598 RCV001128316 RCV001003078 RCV001578757 RCV001820804 RCV001087577 RCV004542971 RCV004816474 RCV004816473

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
Joubert syndrome 5
Senior-Loken syndrome 6
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 4
CEP290-related disorder
Inborn genetic diseases
Leber congenital amaurosis
not specified
Condition: not provided
Kidney disorder
Stuve-Wiedemann syndrome 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

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

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

SNV
Germline

Chr12:88106770

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002479997 RCV001380938 RCV003447521 RCV003469220 RCV002222465 RCV004816477

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

SNV
Germline

Chr17:58218692

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669639

rs_199832333

9 SubmittersRCV000765374 RCV000724912 RCV001274930 RCV001062255 RCV001820805 RCV004535260

NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)

SNV
Germline

Chr4:15570403

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864190

rs_779304750

3 SubmittersRCV000319466 RCV002518823 RCV004542990

NM_017777.4(MKS1):c.959-4G>A

SNV
Germline

Chr17:58210728

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA8669318

rs_201137386

3 SubmittersRCV000339889 RCV001080676 RCV001271770

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

SNV
Germline

Chr16:53645635

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
RPGRIP1L-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057502

rs_61742381

8 SubmittersRCV000270094 RCV000861403 RCV001118694 RCV001118693 RCV001118695 RCV004535264 RCV001699420

NM_017777.4(MKS1):c.959-8T>G

SNV
Germline

Chr17:58210732

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669321

rs_763444295

3 SubmittersRCV000381137 RCV001492999 RCV004542996

NM_025114.4(CEP290):c.181-2A>G

SNV
Germline

Chr12:88139566

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10604124

rs_886042359

4 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234

NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)

SNV
Germline

Chr12:88071833

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related disorder
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10604125

rs_886042360

6 SubmittersRCV001199656 RCV003469223 RCV004732816 RCV001384490 RCV000593831

NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)

SNV
Germline

Chr8:93780741

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA4807782

rs_769957689

4 SubmittersRCV000400090 RCV002518850 RCV002487195

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

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702 RCV001113144

NM_001378615.1(CC2D2A):c.388C>T (p.Arg130Cys)

SNV
Germline

Chr4:15502873

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10604277

rs_886042463

3 SubmittersRCV000322712 RCV001306459 RCV004965366

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
Joubert syndrome
Meckel-Gruber syndrome
Optic atrophy

Criteria Provided
Conflicting Classifications

CA2864483

rs_367841700

5 SubmittersRCV000261394 RCV000274749 RCV000330474 RCV000355466 RCV001085240 RCV004816484

NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=)

SNV
Germline

Chr12:88093839

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10604281

rs_886042467

2 SubmittersRCV000316579 RCV001417740

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

SNV
Germline

Chr4:15537955

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863778

rs_373296447

4 SubmittersRCV000346854 RCV000298590 RCV000353425 RCV001086981

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

SNV
Germline

Chr4:15580042

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864242

rs_372292129

3 SubmittersRCV000278967 RCV000298658 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_017777.4(MKS1):c.249G>A (p.Lys83=)

SNV
Germline

Chr17:58216678

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8669595

rs_62636631

2 SubmittersRCV000374515 RCV001087359

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

SNV
Germline

Chr16:53619018

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057251

rs_373003699

6 SubmittersRCV000299256 RCV000725340 RCV001088317 RCV001120151 RCV001120152 RCV001120153 RCV001271322 RCV004543032

NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala)

SNV
Germline

Chr4:15533324

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863711

rs_777351655

2 SubmittersRCV000299384 RCV001205645

NM_001378615.1(CC2D2A):c.2385G>C (p.Leu795=)

SNV
Germline

Chr4:15553204

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863907

rs_754272410

2 SubmittersRCV000387282 RCV003765613

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
Joubert syndrome
Joubert syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
not specified
RPGRIP1L-related disorder
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8057968

rs_183419371

9 SubmittersRCV000375576 RCV001117359 RCV001117358 RCV001241000 RCV001833330 RCV002487213 RCV004017583 RCV004535307 RCV001117360

NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)

SNV
Germline

Chr8:93758540

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
6 conditions
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA10604744

rs_375824494

5 SubmittersRCV000373992 RCV000622377 RCV001859598 RCV005044531 RCV004586658

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8176305

rs_202215735

5 SubmittersRCV000443211 RCV001087198 RCV004965369

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

SNV
Germline

Chr6:135457659

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012693

rs_139944375

6 SubmittersRCV000313832 RCV000357466 RCV001095106 RCV003930096

NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)

SNV
Germline

Chr16:53672989

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057978

rs_530772984

8 SubmittersRCV000270824 RCV000800938 RCV001833337 RCV004535336 RCV001117361 RCV001117362 RCV001117363 RCV005470404 RCV002480021

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
Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863530

rs_113371687

5 SubmittersRCV000377738 RCV001146978 RCV001146979 RCV001315399 RCV005025424

NM_001378615.1(CC2D2A):c.1359+10A>G

SNV
Germline

Chr4:15527666

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863640

rs_373012628

2 SubmittersRCV000367403 RCV000636971

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000498064 RCV000779117 RCV000473837 RCV000763313 RCV001271571

NM_017777.4(MKS1):c.52C>A (p.Arg18=)

SNV
Germline

Chr17:58219179

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 1
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8669663

rs_557896607

3 SubmittersRCV000389908 RCV001833363 RCV001462242

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

SNV
Germline

Chr8:93758539

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 6
not specified
Inborn genetic diseases
Nephronophthisis 11
Meckel syndrome, type 3

Criteria Provided
Conflicting Classifications

CA4807607

rs_115640152

7 SubmittersRCV000384341 RCV001087787 RCV001163031 RCV001699422 RCV004965374 RCV001163029 RCV001163030

NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)

SNV
Germline

Chr17:58207104

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 1
Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669152

rs_201619500

14 SubmittersRCV000335464 RCV000285730 RCV000514906 RCV000400230 RCV001094550 RCV001083793

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
Joubert syndrome
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
Joubert syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057737

rs_147366111

8 SubmittersRCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001271332 RCV002487244 RCV001243651 RCV004021214 RCV004529473

NM_001134831.2(AHI1):c.3159A>T (p.Ala1053=)

SNV
Germline

Chr6:135358138

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012098

rs_143485622

2 SubmittersRCV000348115 RCV001424639

NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)

SNV
Germline

Chr16:53686569

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058054

rs_139067427

6 SubmittersRCV000406622 RCV001835759 RCV001079200 RCV004535378

NM_153704.6(TMEM67):c.107C>T (p.Ala36Val)

SNV
Germline

Chr8:93755021

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA4807516

rs_34779331

4 SubmittersRCV000344452 RCV001501683 RCV004732826

NM_017777.4(MKS1):c.1176G>A (p.Pro392=)

SNV
Germline

Chr17:58207991

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669234

rs_775169308

4 SubmittersRCV000288086 RCV001088463 RCV001271769 RCV004535379

NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)

SNV
Germline

Chr4:15553302

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1

Criteria Provided
Conflicting Classifications

CA2863930

rs_375243763

3 SubmittersRCV000402581 RCV001202071 RCV001334751

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_001378615.1(CC2D2A):c.415T>C (p.Leu139=)

SNV
Germline

Chr4:15502900

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863403

rs_570078140

2 SubmittersRCV000378881 RCV001084456

NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=)

SNV
Germline

Chr4:15553219

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863911

rs_371834330

2 SubmittersRCV000407656 RCV001419713

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_017777.4(MKS1):c.30C>G (p.Thr10=)

SNV
Germline

Chr17:58219201

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA10605915

rs_576239597

2 SubmittersRCV000265033 RCV002059229

NM_001378615.1(CC2D2A):c.2007G>A (p.Ala669=)

SNV
Germline

Chr4:15540840

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863822

rs_376644970

3 SubmittersRCV000322454 RCV001083165

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

SNV
Germline

Chr5:37227394

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA10605946

rs_886043786

3 SubmittersRCV000273995 RCV002480033

NM_025114.4(CEP290):c.6720A>G (p.Gln2240=)

SNV
Germline

Chr12:88058946

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6711440

rs_751895513

2 SubmittersRCV000306500 RCV001460678

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

SNV
Germline

Chr2:110163104

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827217

rs_114250691

6 SubmittersRCV000363080 RCV000765499 RCV001084490 RCV004816513 RCV004535410

NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)

SNV
Germline

Chr2:110124038

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1826867

rs_201460699

6 SubmittersRCV000303839 RCV001067121 RCV005415563 RCV004021253 RCV004734940

NM_003611.3(OFD1):c.276T>C (p.Ser92=)

SNV
Germline

ChrX:13736642

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351553

rs_201675886

4 SubmittersRCV000334639 RCV002059241 RCV004535414 RCV004021254

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
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
CC2D2A-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA2864205

rs_188891842

7 SubmittersRCV000263818 RCV000765761 RCV001081652 RCV002521992 RCV004543114 RCV005625517

NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)

SNV
Germline

Chr4:15538090

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863805

rs_375131519

5 SubmittersRCV000266234 RCV001087057 RCV004543115

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

SNV
Germline

Chr4:15560553

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA2864042

rs_150093365

7 SubmittersRCV000321273 RCV000765759 RCV001087972 RCV004543116 RCV002518042 RCV005625518

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

SNV
Germline

Chr4:15569374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864176

rs_771914973

8 SubmittersRCV000726221 RCV001079142 RCV004535415 RCV001146759 RCV001146760

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_017777.4(MKS1):c.323G>A (p.Arg108His)

SNV
Germline

Chr17:58216182

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669565

rs_200331553

4 SubmittersRCV000352213 RCV001314897 RCV004535431 RCV005016681

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
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 1
Inborn genetic diseases
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057696

rs_143863631

8 SubmittersRCV000264423 RCV000303891 RCV000361003 RCV000726350 RCV001054615 RCV000765294 RCV002522007 RCV001833391 RCV004543128

NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=)

SNV
Germline

Chr4:15478791

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA10606569

rs_886044284

2 SubmittersRCV000327916 RCV002059272

NM_001378615.1(CC2D2A):c.4179+1G>A

SNV
Germline

Chr4:15587930

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10606582

rs_886044295

2 SubmittersRCV000382562 RCV003765673

NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)

SNV
Germline

Chr11:61393887

Conflicting classifications of pathogenicity

Meckel syndrome, type 2
Joubert syndrome 2
Condition: not provided
Joubert syndrome
Meckel syndrome, type 2
Joubert syndrome 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6034711

rs_762918371

9 SubmittersRCV000291175 RCV000345935 RCV000401686 RCV001240998 RCV001788191 RCV004816515

NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)

SNV
Germline

Chr12:88106824

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA10606630

rs_886044332

2 SubmittersRCV000268793 RCV001859707

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

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

11 SubmittersRCV002467720 RCV005355616 RCV001331377 RCV000454208 RCV001833396 RCV000497486 RCV000801486 RCV002522012 RCV003463776 RCV004537606

NM_001378615.1(CC2D2A):c.192G>A (p.Val64=)

SNV
Germline

Chr4:15480772

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863301

rs_745986665

3 SubmittersRCV000354851 RCV001460799 RCV005532620

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

SNV
Germline

Chr4:15540950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863850

rs_778205727

5 SubmittersRCV001145226 RCV001087966 RCV000726483 RCV001145225 RCV004537612

NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)

SNV
Germline

Chr12:88059985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711473

rs_772603458

7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997

NM_017777.4(MKS1):c.516-10T>C

SNV
Germline

Chr17:58214397

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669483

rs_375046501

6 SubmittersRCV000274540 RCV001084697 RCV004543149

NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=)

SNV
Germline

Chr4:15563412

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA10607039

rs_886044669

2 SubmittersRCV000372517 RCV002518162

NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)

SNV
Germline

Chr17:58214760

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669504

rs_201845154

8 SubmittersRCV000283742 RCV004537621 RCV001064855 RCV001820845 RCV001828282 RCV005016684

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

SNV
Germline

Chr4:15537003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863732

rs_201954181

6 SubmittersRCV000335348 RCV001149502 RCV001248140 RCV001149503 RCV002487294 RCV002518166 RCV004537623

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

SNV
Germline

Chr2:110143602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827002

rs_149887461

7 SubmittersRCV000261599 RCV000591051 RCV000319080 RCV000385395 RCV001549752 RCV001094595 RCV004544605

NM_001128178.3(NPHP1):c.771+89A>G

SNV
Germline

Chr2:110164599

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827267

rs_139787582

8 SubmittersRCV000290000 RCV000325159 RCV000381986 RCV000732923 RCV001094596 RCV002487460 RCV004649130 RCV004735468

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

SNV
Germline

Chr2:110169872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827390

rs_143163969

2 SubmittersRCV000267804 RCV000378671 RCV000315824 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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1827219

rs_141763330

5 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593 RCV004816571

NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)

SNV
Germline

Chr2:110165111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10611873

rs_886054755

2 SubmittersRCV000300890 RCV000335771 RCV000399200 RCV005090514

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_024753.5(TTC21B):c.95G>A (p.Arg32Lys)

SNV
Germline

Chr2:165949651

Conflicting classifications of pathogenicity

Joubert syndrome
Jeune thoracic dystrophy
Nephronophthisis
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10612466

rs_886055028

3 SubmittersRCV000283143 RCV000399656 RCV005222897 RCV004021773

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
ARL13B-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2503724

rs_375770842

4 SubmittersRCV001052493 RCV003902336 RCV003221946

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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863998

rs_368886216

4 SubmittersRCV000284136 RCV000320497 RCV000379227 RCV001315843 RCV001753820 RCV004965438

NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)

SNV
Germline

Chr4:15567753

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10617303

rs_886059182

2 SubmittersRCV000285312 RCV000335691 RCV002520219

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
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864165

rs_181612746

2 SubmittersRCV000270539 RCV000306898 RCV000370091 RCV002057917

NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp)

SNV
Germline

Chr4:15574225

Conflicting classifications of pathogenicity

Joubert syndrome 9
CC2D2A-related disorder
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864221

rs_369648324

4 SubmittersRCV000268647 RCV000323676 RCV000373501 RCV002520220 RCV002520221

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
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863797

rs_201884883

3 SubmittersRCV000270412 RCV000379021 RCV001339478 RCV004965437

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
Joubert syndrome
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
Joubert syndrome 9
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864023

rs_182369056

4 SubmittersRCV000295725 RCV000392515 RCV000513260 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
Joubert syndrome
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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2504223

rs_550306731

3 SubmittersRCV002095811 RCV004656873

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

SNV
Germline

Chr4:15473242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10620305

rs_183968785

3 SubmittersRCV000299608 RCV000394720 RCV000439648 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
Joubert syndrome
Meckel-Gruber syndrome

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863802

rs_550913315

3 SubmittersRCV000296541 RCV000350270 RCV000386075 RCV000732394 RCV002061242

NM_001378615.1(CC2D2A):c.2486+8A>G

SNV
Germline

Chr4:15553313

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863932

rs_749186859

2 SubmittersRCV000297981 RCV000371235 RCV001457261

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
Joubert syndrome

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
Joubert syndrome
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
Joubert syndrome 9
CC2D2A-related disorder
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863437

rs_369022150

4 SubmittersRCV000281651 RCV000372448 RCV000336636 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
Joubert syndrome
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
Condition: not provided
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863745

rs_376746356

4 SubmittersRCV000310945 RCV000352257 RCV000727108 RCV000394900 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
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864155

rs_772784324

3 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
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864321

rs_557038070

3 SubmittersRCV000344976 RCV000407949 RCV001861227 RCV004732853

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
Joubert syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4011958

rs_200368187

4 SubmittersRCV000310232 RCV001309958 RCV002523549 RCV004591129

NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)

SNV
Germline

Chr6:135411525

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4012263

rs_538724792

3 SubmittersRCV000263339 RCV002058557 RCV001821082

NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly)

SNV
Germline

Chr5:37138801

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3237691

rs_144427399

4 SubmittersRCV001462609 RCV000325059 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
CPLANE1-related disorder
Orofaciodigital syndrome type 6
Joubert syndrome 17
not specified

Criteria Provided
Conflicting Classifications

CA3238499

rs_199524299

8 SubmittersRCV000386853 RCV000424907 RCV004021997 RCV004752874 RCV005033895 RCV005238938

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

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3239080

rs_749473632

2 SubmittersRCV000918041 RCV000364768

NM_001134831.2(AHI1):c.2765-9T>C

SNV
Germline

Chr6:135411553

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA10623025

rs_374852342

3 SubmittersRCV000316321 RCV001095063 RCV004752876

NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)

SNV
Germline

Chr6:135490685

Conflicting classifications of pathogenicity

Joubert syndrome 3
Condition: not provided
Joubert syndrome

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

6 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

5 SubmittersRCV000354546 RCV001261664 RCV003430934

NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)

SNV
Germline

Chr7:130401907

Conflicting classifications of pathogenicity

not specified
Familial Autism Spectrum Disorder
Joubert syndrome 15
Condition: not provided
CEP41-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4485523

rs_143303575

10 SubmittersRCV000483238 RCV001261666 RCV000878420 RCV001702359 RCV003922590 RCV005621939

NM_018718.2(CEP41):c.-178C>A

SNV
Germline

Chr7:130441144

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4485802

rs_10230670

3 SubmittersRCV000296288 RCV001559489

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

Criteria Provided
Conflicting Classifications

CA3237697

rs_147426388

6 SubmittersRCV000382022 RCV000419680 RCV000646708 RCV002307488 RCV003343795

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
Joubert syndrome 17
Orofaciodigital syndrome type 6
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3237520

rs_547370426

4 SubmittersRCV000353311 RCV005033893 RCV002061282 RCV004752873

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_018718.2(CEP41):c.-243G>A

SNV
Germline

Chr7:130441209

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4485806

rs_542293061

3 SubmittersRCV000334890 RCV001565365

NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)

SNV
Germline

Chr6:135411495

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

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
Joubert syndrome

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
Meckel syndrome, type 3
Nephronophthisis 11
Meckel-Gruber syndrome
Joubert syndrome
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA4808435

rs_369812327

3 SubmittersRCV000293650 RCV000348602 RCV000390789 RCV002058749 RCV004725191

NM_001134831.2(AHI1):c.3486-4A>G

SNV
Germline

Chr6:135290529

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

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
Joubert syndrome

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
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012546

rs_200949030

4 SubmittersRCV000301551 RCV000592685 RCV001514341

NM_001134831.2(AHI1):c.1311T>G (p.Ser437=)

SNV
Germline

Chr6:135455767

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10626076

rs_886061112

2 SubmittersRCV000390774 RCV005055927

NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)

SNV
Germline

Chr9:136430349

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 1
Condition: not provided
Optic atrophy

Criteria Provided
Conflicting Classifications

CA5336675

rs_147967974

5 SubmittersRCV000302693 RCV001095320 RCV000489191 RCV004816629

NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)

SNV
Germline

Chr9:136432486

Conflicting classifications of pathogenicity

Joubert syndrome 1
not specified
Joubert syndrome

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
Joubert syndrome

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
Joubert syndrome
MORM syndrome
Joubert syndrome 1
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5336941

rs_200518324

4 SubmittersRCV000303395 RCV001408981 RCV005044597 RCV004755905

NM_019892.6(INPP5E):c.1104C>T (p.His368=)

SNV
Germline

Chr9:136433210

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome
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

Joubert syndrome
Joubert syndrome 1
Condition: not provided
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5337213

rs_571588033

4 SubmittersRCV000282860 RCV001095346 RCV001707685 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
Joubert syndrome
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA4807976

rs_774288177

3 SubmittersRCV000270206 RCV000306665 RCV000370373 RCV000872573 RCV004732858

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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6786785

rs_371066430

2 SubmittersRCV000384153 RCV001444758

NM_024809.5(TCTN2):c.677G>A (p.Arg226His)

SNV
Germline

Chr12:123686948

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6860961

rs_774785140

3 SubmittersRCV000353180 RCV000399489 RCV002522224 RCV004965394

NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg)

SNV
Germline

Chr12:123688062

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
Meckel syndrome, type 8
Joubert syndrome 24
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6861006

rs_151318349

6 SubmittersRCV000315177 RCV000367468 RCV000636951 RCV004021534 RCV005008281 RCV005365240

NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)

SNV
Germline

Chr9:136431966

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome

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
Joubert syndrome
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

Joubert syndrome
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

Joubert syndrome
Joubert syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5336769

rs_74880446

7 SubmittersRCV000320108 RCV001095322 RCV001718790 RCV005434889

NM_019892.6(INPP5E):c.813-8C>T

SNV
Germline

Chr9:136434871

Conflicting classifications of pathogenicity

Joubert syndrome
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
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Kidney disorder
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001273074 RCV001085312 RCV002294263 RCV003888722 RCV004537751

NM_025114.4(CEP290):c.1549T>C (p.Leu517=)

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000305920 RCV000299546 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199

NM_025114.4(CEP290):c.-41C>T

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
not specified
Meckel syndrome, type 4
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000330322 RCV000372028 RCV000338378 RCV000422198 RCV000387258 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
not specified
Joubert syndrome 2
Inborn genetic diseases
TMEM216-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6034753

rs_200289511

7 SubmittersRCV000273916 RCV000368499 RCV000734945 RCV001093978 RCV002520731 RCV004734968 RCV005055857

NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)

SNV
Germline

Chr12:110640499

Conflicting classifications of pathogenicity

Joubert syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
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
Joubert syndrome 24
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6860918

rs_761089886

3 SubmittersRCV000276829 RCV000371384 RCV000863392 RCV001568585

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
Joubert syndrome
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
RPGRIP1L-related disorder
Meckel-Gruber syndrome
Joubert syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8057127

rs_759935029

5 SubmittersRCV000260137 RCV000324659 RCV000379320 RCV000996270 RCV004544574 RCV001413863 RCV004816558

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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome
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

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
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 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
Joubert syndrome
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627

NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)

SNV
Germline

Chr12:88087910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638682

rs_548558619

7 SubmittersRCV000303931 RCV000339034 RCV000361178 RCV000391345 RCV000398556 RCV001590929 RCV001242966 RCV001835779 RCV002487370 RCV004544542 RCV005540054

NM_025114.4(CEP290):c.3574-15T>A

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375

NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

9 SubmittersRCV000307295 RCV000310425 RCV000371328 RCV000365084 RCV000400672 RCV000861492 RCV001562789 RCV001252733 RCV002467728 RCV003888723 RCV004732842 RCV005003631

NM_025114.4(CEP290):c.54G>A (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212

NM_016464.4(TMEM138):c.-239C>T

SNV
Germline

Chr11:61362321

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639442

rs_146156958

2 SubmittersRCV000368397 RCV001557373

NM_001173990.3(TMEM216):c.-24C>T

SNV
Germline

Chr11:61392608

Conflicting classifications of pathogenicity

Joubert syndrome 2
not specified
TMEM216-related disorder
Meckel syndrome, type 2

Criteria Provided
Conflicting Classifications

CA6034687

rs_59493015

3 SubmittersRCV000281341 RCV000444282 RCV004537720 RCV000331705

NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)

SNV
Germline

Chr11:61397964

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6034764

rs_749351351

4 SubmittersRCV000333645 RCV000388251 RCV000731810 RCV001093992

NM_017777.4(MKS1):c.491G>A (p.Arg164His)

SNV
Germline

Chr17:58214765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669506

rs_200149256

6 SubmittersRCV000321171 RCV000384944 RCV000730592 RCV001086823 RCV004537814

NM_024809.5(TCTN2):c.888G>A (p.Pro296=)

SNV
Germline

Chr12:123688174

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome
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
Joubert syndrome
Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Conflicting Classifications

CA6860932

rs_146698907

5 SubmittersRCV000331654 RCV000386181 RCV000521173 RCV001440263 RCV005008279

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
Joubert syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6860949

rs_139927033

4 SubmittersRCV000286383 RCV000380785 RCV000530401 RCV001697750 RCV004965393

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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001347081 RCV001273072 RCV004732840

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
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001273076 RCV001555535 RCV001590930 RCV001074452 RCV002520840 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
Joubert syndrome
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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002461069 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
Condition: not provided
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV001642965 RCV000402356

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
Joubert syndrome
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
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128

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
Retinitis pigmentosa
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
not specified
CEP290-related disorder
Retinal dystrophy
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000787814 RCV000637006 RCV001275046 RCV003330639 RCV004537752 RCV003888725 RCV005355635

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
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Inborn genetic diseases
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8057138

rs_377402117

5 SubmittersRCV000284914 RCV000321256 RCV000385189 RCV000820913 RCV001276306 RCV003278765 RCV002504091

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
Joubert syndrome
RPGRIP1L-related disorder
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8058122

rs_202149647

5 SubmittersRCV000260324 RCV000320204 RCV000374585 RCV000867235 RCV004537803 RCV001273899 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
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8058137

rs_182207372

3 SubmittersRCV000285017 RCV000339982 RCV000380550 RCV000867344 RCV001273900

NM_017777.4(MKS1):c.102A>G (p.Thr34=)

SNV
Germline

Chr17:58218708

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA10646202

rs_886053171

3 SubmittersRCV000311622 RCV000337010 RCV001441690 RCV004537815

NM_017777.4(MKS1):c.80+14C>G

SNV
Germline

Chr17:58219137

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA10646204

rs_761061379

4 SubmittersRCV000297157 RCV000407075 RCV000670260 RCV002522992 RCV004732850

NM_015272.5(RPGRIP1L):c.*1584G>T

SNV
Germline

Chr16:53600492

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647702

rs_151226475

2 SubmittersRCV000260902 RCV000379947 RCV000316080 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
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome

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
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8057500

rs_141608712

8 SubmittersRCV000283664 RCV000341038 RCV000380415 RCV000996271 RCV001243917 RCV001271326 RCV005010283

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
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Inborn genetic diseases
RPGRIP1L-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057930

rs_144023021

7 SubmittersRCV000272277 RCV000308698 RCV000362256 RCV001239253 RCV001828320 RCV002487410 RCV004021665 RCV004537802 RCV005241353

NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)

SNV
Germline

Chr16:53692344

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 1
Condition: not provided
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058159

rs_151212590

7 SubmittersRCV000310412 RCV000346684 RCV000464407 RCV000398312 RCV000765298 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
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8058197

rs_146925098

8 SubmittersRCV000262935 RCV000298218 RCV000353091 RCV000489212 RCV001081628 RCV005016706 RCV004816559

NM_030578.4(B9D2):c.224G>A (p.Arg75Gln)

SNV
Germline

Chr19:41355004

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Ciliopathy
B9D2-related disorder

Criteria Provided
Conflicting Classifications

CA9460301

rs_148087680

3 SubmittersRCV002735439 RCV005356188 RCV003963339

NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)

SNV
Germline

Chr17:58207170

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669167

rs_367625961

6 SubmittersRCV000291999 RCV000346858 RCV000592032 RCV001850733 RCV002524429 RCV004529556

NM_017777.4(MKS1):c.644+8G>T

SNV
Germline

Chr17:58214251

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8669457

rs_370117125

8 SubmittersRCV000266041 RCV000861689 RCV000379306 RCV001699454

NM_017777.4(MKS1):c.813C>T (p.His271=)

SNV
Germline

Chr17:58213027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669402

rs_201961765

4 SubmittersRCV000262761 RCV000408617 RCV000596764 RCV001088004 RCV001126361 RCV004537813

NM_017777.4(MKS1):c.729G>T (p.Thr243=)

SNV
Germline

Chr17:58213785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669437

rs_373491923

2 SubmittersRCV000260241 RCV000324797 RCV001399709

NM_017777.4(MKS1):c.27C>T (p.Asp9=)

SNV
Germline

Chr17:58219204

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8669667

rs_369488349

9 SubmittersRCV000266789 RCV000361285 RCV001086578 RCV000728548

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
Joubert syndrome
Meckel syndrome, type 2
Joubert syndrome 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
Retinitis pigmentosa 98
Meckel syndrome, type 2
Joubert syndrome 2
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041470

rs_1057517528

5 SubmittersRCV000409368 RCV000410496 RCV004776284 RCV005049540 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_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser)

SNV
Germline

Chr4:15599582

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16042485

rs_780673487

3 SubmittersRCV000414427 RCV001865279 RCV003488582

NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)

SNV
Germline

Chr12:88131209

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
not specified
Inborn genetic diseases
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712782

rs_757641323

9 SubmittersRCV000414162 RCV000552078 RCV002470852 RCV005010313 RCV000999862 RCV005540072 RCV003463818

NM_025114.4(CEP290):c.3104-2A>G

SNV
Germline

Chr12:88093977

Pathogenic/Likely pathogenic

6 conditions
Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6712210

rs_773386777

3 SubmittersRCV000415418 RCV003470370 RCV003766166

NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)

SNV
Germline

Chr12:88102888

Pathogenic/Likely pathogenic

Central hypotonia
Nystagmus
Molar tooth sign on MRI
Blindness
Joubert syndrome 5
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16043473

rs_1057518822

4 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147

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
Joubert syndrome
Joubert syndrome 1
INPP5E-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5336846

rs_756789619

4 SubmittersRCV000416989 RCV001861469 RCV003989529 RCV004730943

NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)

SNV
Germline

ChrX:13760520

Conflicting classifications of pathogenicity

History of neurodevelopmental disorder
Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10351924

rs_146251034

5 SubmittersRCV000721041 RCV000638949 RCV000435733

NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

9 SubmittersRCV000428640 RCV001109866 RCV001109867 RCV001109868 RCV001110658 RCV001275045 RCV000809280 RCV001109869 RCV001252443 RCV004530521 RCV004816652 RCV005010318

NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg)

SNV
Germline

Chr6:135411478

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Inborn genetic diseases
Optic atrophy

Criteria Provided
Conflicting Classifications

CA4012255

rs_142704960

4 SubmittersRCV000429829 RCV000549669 RCV002524707 RCV004816653

NM_001321218.2(B9D1):c.473-1G>C

SNV
Germline

Chr17:19337749

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 27
not specified
B9D1-related disorder

Criteria Provided
Conflicting Classifications

CA8440035

rs_73980009

5 SubmittersRCV000428981 RCV001291732 RCV004017610 RCV004555575

NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr4:15478783

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA16603252

rs_896947430

6 SubmittersRCV000423378 RCV003766188 RCV004586704 RCV005252887

NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter)

SNV
Germline

Chr16:53637728

Likely pathogenic

Condition: not provided
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Single Submitter

CA16603302

rs_1057520162

3 SubmittersRCV000425777 RCV001835792 RCV004725212

NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV001245037 RCV000765111 RCV000417476 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
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864082

rs_371608031

4 SubmittersRCV000442925 RCV001402263 RCV000765760 RCV005027492

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
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
CC2D2A-related disorder
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863395

rs_748886997

5 SubmittersRCV000424373 RCV001147864 RCV002063654 RCV001147863 RCV004732884 RCV005033960

NM_001378615.1(CC2D2A):c.3014+4A>C

SNV
Germline

Chr4:15560626

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864050

rs_748451478

5 SubmittersRCV000435852 RCV000524961 RCV004533116 RCV005033954 RCV002522611

NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=)

SNV
Germline

Chr4:15563485

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864084

rs_386833750

3 SubmittersRCV000443511 RCV000731520 RCV001430419

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
not specified

Criteria Provided
Conflicting Classifications

CA3237441

rs_144081297

8 SubmittersRCV000514597 RCV001153529 RCV003409599 RCV005434918

NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)

SNV
Germline

Chr6:135394852

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
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
Joubert syndrome
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
Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012837

rs_368077581

4 SubmittersRCV000427341 RCV000527501 RCV001151771 RCV004975505

NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)

SNV
Germline

Chr5:37227669

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3239117

rs_755097302

5 SubmittersRCV000438829 RCV001729596 RCV000694430 RCV003147459

NM_001174150.2(ARL13B):c.626G>A (p.Arg209His)

SNV
Germline

Chr3:94036691

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 8

Criteria Provided
Conflicting Classifications

CA2504105

rs_199790565

3 SubmittersRCV000425094 RCV001234582

NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)

SNV
Germline

Chr6:135290508

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Intellectual disability
Joubert syndrome 3
AHI1-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4011964

rs_199578341

10 SubmittersRCV000445026 RCV000701724 RCV001252129 RCV000764640 RCV003932665 RCV003431002 RCV004816662

NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)

SNV
Germline

Chr6:135323294

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Joubert syndrome 1
Joubert syndrome
Rod-cone dystrophy
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012074

rs_780163791

8 SubmittersRCV003114537 RCV000424420 RCV001075600 RCV000987784 RCV001047025 RCV001376231 RCV005044633

NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)

SNV
Germline

Chr6:135427217

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
not specified
Retinal dystrophy
Intellectual disability
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012295

rs_199879855

6 SubmittersRCV000427065 RCV001083343 RCV003317208 RCV001074633 RCV005625602 RCV004752894

NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=)

SNV
Germline

Chr5:37108458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3237449

rs_377707922

5 SubmittersRCV000425265 RCV001153530 RCV000899396 RCV003942431

NM_001384732.1(CPLANE1):c.1839A>G (p.Lys613=)

SNV
Germline

Chr5:37226756

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3239070

rs_533310477

4 SubmittersRCV000442673 RCV002521737 RCV005033953

NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe)

SNV
Germline

Chr5:37227299

Conflicting classifications of pathogenicity

Condition: not provided
CPLANE1-related disorder
Joubert syndrome 17
Orofaciodigital syndrome type 6
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA3239096

rs_372187548

6 SubmittersRCV000420402 RCV004752897 RCV002481329 RCV004594060

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
Joubert syndrome
Meckel-Gruber syndrome
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA4808413

rs_771551765

5 SubmittersRCV000429127 RCV000984518 RCV001851095 RCV002248661 RCV005044648

NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys)

SNV
Germline

Chr9:136431917

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Rod-cone dystrophy
INPP5E-related disorder
Joubert syndrome and related disorders
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336788

rs_75939033

6 SubmittersRCV000420326 RCV001239212 RCV001376303 RCV004529576 RCV005418121 RCV005044646

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.6132T>G (p.Pro2044=)

SNV
Germline

Chr12:88068525

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711569

rs_765002773

5 SubmittersRCV000421065 RCV000726726 RCV001828431 RCV001083326 RCV004533083

NM_025114.4(CEP290):c.1360-4T>G

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

4 SubmittersRCV001112007 RCV001112009 RCV001112452 RCV000441785 RCV000474649 RCV001112008 RCV001112451 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.1700-1G>A

SNV
Germline

Chr16:53652988

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16607037

rs_1057520790

2 SubmittersRCV000434303 RCV001378534

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

Criteria Provided
Conflicting Classifications

CA8176145

rs_376300743

4 SubmittersRCV000434172 RCV001337255 RCV003902495 RCV005243226

NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)

SNV
Germline

Chr16:75545352

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176149

rs_199776253

3 SubmittersRCV001365771 RCV001703554

NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)

SNV
Germline

Chr16:75545436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176170

rs_201636741

4 SubmittersRCV000650610 RCV001704292 RCV003151054

NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)

SNV
Germline

Chr12:88111728

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712388

rs_752513342

3 SubmittersRCV000436721 RCV001242972 RCV004532991

NM_025114.4(CEP290):c.1729C>T (p.Leu577=)

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001111899 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898

NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)

SNV
Germline

Chr16:75556203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176321

rs_371709760

4 SubmittersRCV001703597 RCV000952419 RCV002524875 RCV004755911

NM_015681.6(B9D1):c.597C>G (p.Pro199=)

SNV
Germline

Chr17:19343337

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 9
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8440061

rs_753785719

3 SubmittersRCV000865894 RCV001123361 RCV001510750

NM_017777.4(MKS1):c.1128G>A (p.Thr376=)

SNV
Germline

Chr17:58208142

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669254

rs_369141016

6 SubmittersRCV000422499 RCV000727365 RCV001400560 RCV004539865

NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr4:15527564

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 1
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2863622

rs_757208121

3 SubmittersRCV000456449 RCV000987416 RCV005027531

NM_016169.4(SUFU):c.1429G>A (p.Val477Met)

SNV
Germline

Chr10:102630129

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 2
Medulloblastoma
Familial meningioma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA16612722

rs_1060501117

3 SubmittersRCV000457004 RCV001011538 RCV005027506

NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)

SNV
Germline

Chr10:102630145

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Medulloblastoma
Condition: not provided
Medulloblastoma
Familial meningioma
Basal cell nevus syndrome 2
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA5668006

rs_765358771

7 SubmittersRCV000462118 RCV000567793 RCV001105629 RCV003139675 RCV005398652

NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)

SNV
Germline

Chr10:102509261

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Gorlin syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided
Familial meningioma
Basal cell nevus syndrome 2
Medulloblastoma
Familial meningioma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA5667641

rs_746322193

6 SubmittersRCV000476504 RCV000763640 RCV001016523 RCV001293037 RCV003105911 RCV004567970 RCV005027505

NM_016169.4(SUFU):c.1023-2A>T

SNV
Germline

Chr10:102615266

Likely pathogenic

Gorlin syndrome
Medulloblastoma
Joubert syndrome 32
Basal cell nevus syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16612826

rs_1060501105

2 SubmittersRCV000472343 RCV003448312

NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)

SNV
Germline

Chr10:102599514

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Medulloblastoma
Familial meningioma
Basal cell nevus syndrome 2
Medulloblastoma
Familial meningioma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA5667830

rs_141359583

5 SubmittersRCV000463863 RCV000563167 RCV001103676 RCV003470410 RCV005027504

NM_016169.4(SUFU):c.600C>T (p.Ile200=)

SNV
Germline

Chr10:102593638

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Medulloblastoma
Medulloblastoma
Gorlin syndrome
Familial meningioma
Familial meningioma
Medulloblastoma
Basal cell nevus syndrome 2
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA5667730

rs_149513330

16 SubmittersRCV000507081 RCV000568542 RCV000732323 RCV001108833 RCV001081771 RCV003316587 RCV005398653

NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)

SNV
Germline

Chr10:102615303

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5667865

rs_137880855

8 SubmittersRCV000464552 RCV001017160 RCV003483616 RCV002480368 RCV003333747 RCV003463873

NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)

SNV
Germline

ChrX:13767252

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome
OFD1-related disorder
Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Orofaciodigital syndrome I

Criteria Provided
Multiple Submitters
No Conflicts

CA16616638

rs_1060500123

5 SubmittersRCV000465580 RCV002279956 RCV003448908 RCV005252898 RCV003448310

NM_001174150.2(ARL13B):c.106G>A (p.Ala36Thr)

SNV
Germline

Chr3:93995920

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2503760

rs_139780924

4 SubmittersRCV000487423 RCV001052046 RCV004955533

NM_001378615.1(CC2D2A):c.286G>A (p.Ala96Thr)

SNV
Germline

Chr4:15502467

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863359

rs_376438052

3 SubmittersRCV000480975 RCV002525843 RCV005306036

NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg)

SNV
Germline

Chr4:15550839

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2863866

rs_372259202

5 SubmittersRCV001229206 RCV000730328 RCV003323564

NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)

SNV
Germline

Chr4:15580065

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864250

rs_200427832

6 SubmittersRCV000726978 RCV001081324 RCV000765762 RCV004535520

NM_001378615.1(CC2D2A):c.3976-18C>G

SNV
Germline

Chr4:15586139

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864277

rs_375782772

2 SubmittersRCV000480084 RCV002063739

NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)

SNV
Germline

Chr4:15601291

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864468

rs_199695154

6 SubmittersRCV000479727 RCV001053315 RCV002496867 RCV002525868 RCV004541523

NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His)

SNV
Germline

Chr5:37183547

Conflicting classifications of pathogenicity

Condition: not provided
CPLANE1-related disorder
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238663

rs_765457523

3 SubmittersRCV000480065 RCV003409669 RCV005044731

NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp)

SNV
Germline

Chr8:67095623

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4770364

rs_756423026

4 SubmittersRCV000481792 RCV001054937 RCV002525937

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_025114.4(CEP290):c.4705-1G>T

SNV
Germline

Chr12:88083955

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
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_025114.4(CEP290):c.3461+1G>A

SNV
Germline

Chr12:88092680

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619601

rs_766952056

2 SubmittersRCV000485299 RCV001070331

NM_001329943.3(KIAA0586):c.-29A>C

SNV
Germline

Chr14:58428236

Likely pathogenic

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

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.3446T>A (p.Ile1149Asn)

SNV
Germline

Chr16:53619195

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057283

rs_766943204

4 SubmittersRCV000484881 RCV001365284 RCV005018809 RCV004732897

NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)

SNV
Germline

Chr16:53649068

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
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

Joubert syndrome 7
COACH syndrome 1
Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057740

rs_79524027

5 SubmittersRCV000765296 RCV000862031 RCV004535531 RCV001696865

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_019892.6(INPP5E):c.1861C>T (p.Arg621Trp)

SNV
Germline

Chr9:136429749

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Rod-cone dystrophy
MORM syndrome
Joubert syndrome 1
MORM syndrome
Joubert syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5336632

rs_142759730

6 SubmittersRCV000490169 RCV001223610 RCV001376304 RCV001809446 RCV005044736 RCV005248065

NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys)

SNV
Germline

Chr9:136430410

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome
Joubert syndrome 1
MORM syndrome

Criteria Provided
Conflicting Classifications

CA201638375

rs_1024279229

4 SubmittersRCV000489080 RCV001797738 RCV001865518 RCV005398710

NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter)

SNV
Germline

Chr5:37180021

Pathogenic

Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3238472

rs_770770257

2 SubmittersRCV000599682 RCV005091009

NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)

SNV
Germline

Chr5:37182833

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3238567

rs_200444162

5 SubmittersRCV002475966 RCV001226490 RCV004023274 RCV000611750

NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly)

SNV
Germline

Chr5:37183538

Conflicting classifications of pathogenicity

Joubert syndrome 17
not specified

Criteria Provided
Conflicting Classifications

CA359497381

rs_759649053

2 SubmittersRCV000605589 RCV004689763

NM_001352754.2(ARMC9):c.51+5G>T

SNV
Germline

Chr2:231206294

Conflicting classifications of pathogenicity

ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA431718687

rs_1114167447

5 SubmittersRCV000491267 RCV002227476 RCV001034536

NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)

SNV
Germline

Chr2:231214858

Conflicting classifications of pathogenicity

ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome
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
Joubert syndrome
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
Joubert syndrome
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
Joubert syndrome 30

No Assertion Criteria Provided

CA2160301

rs_753432312

3 SubmittersRCV000490882 RCV001034533 RCV000515503

NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)

SNV
Germline

Chr2:231276775

Likely pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome
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
Joubert syndrome

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

Joubert syndrome 30
ARMC9-related Joubert syndrome
Joubert syndrome

No Assertion Criteria Provided

CA350957057

rs_1114167449

3 SubmittersRCV000515485 RCV000490913 RCV001034541

NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)

SNV
Germline

Chr17:6623016

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Joubert syndrome
Condition: not provided
Orofaciodigital syndrome XV
Jeune thoracic dystrophy
Short-rib thoracic dysplasia 21 without polydactyly
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV

Criteria Provided
Multiple Submitters
No Conflicts

CA8330639

rs_746068882

8 SubmittersRCV000590973 RCV001269779 RCV002248721 RCV000984622 RCV001559335 RCV005355989

NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr17:6623043

Pathogenic

Jeune thoracic dystrophy
Joubert syndrome
Condition: not provided
Short-rib thoracic dysplasia 21 without polydactyly

Criteria Provided
Single Submitter

CA8330644

rs_762771340

3 SubmittersRCV000590971 RCV000760916 RCV001559336

NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter)

SNV
Germline

Chr4:15528630

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356410600

rs_1131691659

2 SubmittersRCV000493964 RCV003766778

NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)

SNV
Germline

Chr5:37195993

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3238873

rs_749421099

4 SubmittersRCV000493929 RCV005034036 RCV003987565

NM_025114.4(CEP290):c.4813-2A>G

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

12 SubmittersRCV000687629 RCV001075395 RCV000498458 RCV001535842 RCV002248731 RCV003464071 RCV001271569 RCV002222534

NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)

SNV
Germline

Chr6:135453366

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012599

rs_770605375

4 SubmittersRCV000499488 RCV000767140 RCV001238586 RCV002524145

NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)

SNV
Germline

Chr6:135457662

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012695

rs_777420094

4 SubmittersRCV000502871 RCV000766367 RCV005034040 RCV003495140

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_024809.5(TCTN2):c.333T>C (p.Asp111=)

SNV
Germline

Chr12:123673680

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6860870

rs_534113568

2 SubmittersRCV000504375 RCV002056883

NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn)

SNV
Germline

Chr16:53605535

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA395921259

rs_1445612197

3 SubmittersRCV000499574 RCV001865622 RCV002524284

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
Condition: not provided
Joubert syndrome and related disorders
Joubert syndrome 20
TMEM231-related disorder

Criteria Provided
Conflicting Classifications

CA8176100

rs_760426025

6 SubmittersRCV000503497 RCV000650603 RCV003129877 RCV003492085 RCV003989544 RCV004755939

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_003611.3(OFD1):c.1102C>G (p.Leu368Val)

SNV
Germline

ChrX:13753414

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351747

rs_192285113

3 SubmittersRCV000500732 RCV002056861 RCV004023391

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

6 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914

NM_015272.5(RPGRIP1L):c.1700-16G>T

SNV
Germline

Chr16:53653003

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA658653834

rs_1555604481

2 SubmittersRCV000514508 RCV003766899

NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)

SNV
Germline

Chr6:135465910

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3
not specified
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012791

rs_183936286

5 SubmittersRCV000514800 RCV001088814 RCV001157234 RCV002222540 RCV003915428

NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val)

SNV
Germline

Chr4:15502513

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863371

rs_137878385

4 SubmittersRCV000514250 RCV001425099 RCV004541596

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
TMEM231-related disorder

Criteria Provided
Conflicting Classifications

CA8176255

rs_376555896

5 SubmittersRCV000515034 RCV001003228 RCV001865689 RCV003222011 RCV004755946

NM_019892.6(INPP5E):c.1549+17G>A

SNV
Germline

Chr9:136431807

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA5336753

rs_776348228

2 SubmittersRCV000514383 RCV001437584

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

5 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

Conflicting classifications of pathogenicity

Joubert syndrome 31
Condition: not provided
Short-rib thoracic dysplasia 13 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3386908

rs_775080726

3 SubmittersRCV000515145 RCV001268429 RCV005091175

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
PIBF1-related disorder

No Assertion Criteria Provided

CA252588736

rs_987735817

2 SubmittersRCV000515457 RCV004754456

NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg)

SNV
Germline

ChrX:13758428

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351857

rs_373792491

3 SubmittersRCV000517838 RCV000867745 RCV002527503

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.5397T>G (p.Tyr1799Ter)

SNV
Germline

Chr5:37182784

Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA3238559

rs_759881074

2 SubmittersRCV000523595 RCV005034078

NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn)

SNV
Germline

Chr5:37184809

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3238703

rs_138157520

4 SubmittersRCV000520136 RCV001248105 RCV001331273 RCV003925565

NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met)

SNV
Germline

Chr5:37226940

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17
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
Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012871

rs_370059449

6 SubmittersRCV000518979 RCV001295361 RCV003139738 RCV004023597 RCV004752934

NM_001134831.2(AHI1):c.83G>A (p.Arg28His)

SNV
Germline

Chr6:135490675

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012956

rs_36115433

3 SubmittersRCV000522733 RCV002528251 RCV002476066

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660

NM_025114.4(CEP290):c.1190-2A>G

SNV
Germline

Chr12:88121168

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712608

rs_200818935

3 SubmittersRCV000523813 RCV001378303 RCV003470653

NM_001378615.1(CC2D2A):c.3988C>T (p.Arg1330Ter)

SNV
Germline

Chr4:15586169

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA2864283

rs_758036385

1 SubmittersRCV000528326

NM_001134831.2(AHI1):c.2106G>A (p.Thr702=)

SNV
Germline

Chr6:135433187

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA452214747

rs_1276908141

1 SubmittersRCV000534772

NM_001134831.2(AHI1):c.708A>G (p.Lys236=)

SNV
Germline

Chr6:135465855

Conflicting classifications of pathogenicity

Joubert syndrome
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

Joubert syndrome
Meckel-Gruber syndrome
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

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 6
TMEM67-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA4807691

rs_200329273

7 SubmittersRCV000527602 RCV000999054 RCV001420616 RCV004732934 RCV005044803

NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)

SNV
Germline

Chr9:136438797

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 1
not specified
Inborn genetic diseases
Joubert syndrome
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5337119

rs_143107549

6 SubmittersRCV000839869 RCV001335948 RCV003151089 RCV002527750 RCV001088844 RCV004541674

NM_016169.4(SUFU):c.529A>G (p.Met177Val)

SNV
Germline

Chr10:102592656

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Medulloblastoma
not specified
Condition: not provided
Familial meningioma
Joubert syndrome 32
Basal cell nevus syndrome 2
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA5667704

rs_758672583

7 SubmittersRCV000548377 RCV001023883 RCV001108832 RCV003151082 RCV003325488 RCV005027622

NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)

SNV
Germline

Chr10:102630079

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma
Gorlin syndrome
Joubert syndrome 32
Medulloblastoma
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

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 13
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6786858

rs_188817098

6 SubmittersRCV000552632 RCV000763790 RCV002528337 RCV001591218

NM_025114.4(CEP290):c.6358-1G>A

SNV
Germline

Chr12:88060995

Likely pathogenic

Leber congenital amaurosis
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
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

CA6711506

rs_766670248

4 SubmittersRCV001276485 RCV000555880 RCV002491001 RCV003470742

NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter)

SNV
Germline

Chr12:88080196

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385990901

rs_1555205328

1 SubmittersRCV000525824

NM_025114.4(CEP290):c.384T>C (p.Asp128=)

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV000550067 RCV001110659 RCV001110660 RCV001112627 RCV001112629 RCV001112628 RCV001821528 RCV003889921

NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711500

rs_184323010

5 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187 RCV004732937

NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter)

SNV
Germline

Chr12:88120162

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385979851

rs_1278679056

1 SubmittersRCV000540957

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.1199C>T (p.Thr400Ile)

SNV
Germline

Chr12:88121157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712602

rs_773578133

4 SubmittersRCV000526103 RCV000839270 RCV005010500 RCV004537946

NM_025114.4(CEP290):c.943-8A>T

SNV
Germline

Chr12:88126446

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712652

rs_200729812

5 SubmittersRCV001083503 RCV000595738 RCV004817765

NM_025114.4(CEP290):c.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV001091342 RCV001199655 RCV000787558 RCV000542843 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_017777.4(MKS1):c.199C>T (p.Arg67Cys)

SNV
Germline

Chr17:58216728

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 1
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669607

rs_200340896

5 SubmittersRCV000533125 RCV000596970 RCV001271773 RCV004732933

NM_003611.3(OFD1):c.2261-6C>G

SNV
Germline

ChrX:13761079

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA658658929

rs_769923969

1 SubmittersRCV000533164

NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe)

SNV
Germline

ChrX:13760485

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351920

rs_149473481

2 SubmittersRCV000545002 RCV004023911

NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)

SNV
Germline

Chr10:102617364

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5667904

rs_368020224

6 SubmittersRCV000568227 RCV000763643 RCV000705071 RCV003459402 RCV004783816 RCV005231110

NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)

SNV
Germline

Chr12:88118485

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA385978708

rs_1272411609

4 SubmittersRCV000579059 RCV002530367 RCV003459415 RCV004817775

NM_015272.5(RPGRIP1L):c.2299C>T (p.Gln767Ter)

SNV
Germline

Chr16:53648969

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA395915296

rs_1326042797

3 SubmittersRCV000578780 RCV003767253 RCV004722949

NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)

SNV
Germline

ChrX:13751304

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 10

Criteria Provided
Conflicting Classifications

CA412339741

rs_1555904005

2 SubmittersRCV000579002 RCV003147509

NM_001134831.2(AHI1):c.2988+6T>C

SNV
Germline

Chr6:135404945

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012199

rs_751303913

3 SubmittersRCV000585422 RCV001199637 RCV005091526

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_001378615.1(CC2D2A):c.1689C>T (p.His563=)

SNV
Germline

Chr4:15537001

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863730

rs_755367503

4 SubmittersRCV000592858 RCV001086741 RCV004530664

NM_025114.4(CEP290):c.5012+2T>C

SNV
Germline

Chr12:88083029

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334

NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058868

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002282253 RCV002250666 RCV002294351 RCV002506412 RCV003459464

NM_017777.4(MKS1):c.261+7C>T

SNV
Germline

Chr17:58216659

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA8669594

rs_200156751

4 SubmittersRCV000593114 RCV000726746 RCV001085295 RCV001834870

NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)

SNV
Germline

Chr4:15538080

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863798

rs_201884883

6 SubmittersRCV000594861 RCV000694442 RCV000765756 RCV001148070 RCV001148071 RCV004722961

NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter)

SNV
Germline

Chr12:88102918

Pathogenic

Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6712241

rs_780805963

2 SubmittersRCV000592129 RCV002531013

NM_001134831.2(AHI1):c.3165+1G>A

SNV
Germline

Chr6:135358131

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA365840741

rs_1448108151

2 SubmittersRCV000593380 RCV005034161

NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)

SNV
Germline

Chr4:15563394

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864068

rs_377575861

3 SubmittersRCV000598347 RCV002531014 RCV004530670

NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)

SNV
Germline

Chr4:15557452

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864001

rs_200707391

5 SubmittersRCV000595851 RCV001205249 RCV004546527 RCV004530671

NM_017777.4(MKS1):c.543C>T (p.Ile181=)

SNV
Germline

Chr17:58214360

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA501034743

rs_1156392394

2 SubmittersRCV000591567 RCV001487467

NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)

SNV
Germline

Chr12:88050366

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6711330

rs_779550219

2 SubmittersRCV000591424 RCV001474775

NM_001128178.3(NPHP1):c.772-5T>C

SNV
Germline

Chr2:110163140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827225

rs_201478764

3 SubmittersRCV000592386 RCV001134446 RCV001134448 RCV001134447 RCV003748247

NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)

SNV
Germline

Chr4:15537964

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863781

rs_185072004

4 SubmittersRCV000597873 RCV000827144 RCV001083162 RCV001147081 RCV001147082

NM_003611.3(OFD1):c.2996+10T>C

SNV
Germline

ChrX:13768795

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10352131

rs_769127095

2 SubmittersRCV000596920 RCV005213330

NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln)

SNV
Germline

Chr4:15596104

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864377

rs_113065116

6 SubmittersRCV000592379 RCV001326524 RCV004732953 RCV004024748 RCV005034164

NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)

SNV
Germline

Chr11:61393319

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 2
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

CA222895126

rs_900061092

4 SubmittersRCV000598481 RCV001088496 RCV001276405 RCV004530681

NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)

SNV
Germline

Chr12:88089106

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6712052

rs_182851622

5 SubmittersRCV000591618 RCV001079405 RCV001273075

NM_001378615.1(CC2D2A):c.423T>C (p.Thr141=)

SNV
Germline

Chr4:15502908

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863405

rs_368572539

2 SubmittersRCV000595710 RCV001493380

NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)

SNV
Germline

Chr16:75541371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176052

rs_369010440

5 SubmittersRCV000593061 RCV003160029 RCV002065162

NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)

SNV
Germline

Chr4:15527459

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
CC2D2A-related disorder
Congenital heart disease

Criteria Provided
Conflicting Classifications

CA2863609

rs_115924432

7 SubmittersRCV000597954 RCV000636967 RCV001697392 RCV004530693 RCV005625697

NM_017777.4(MKS1):c.279C>T (p.Tyr93=)

SNV
Germline

Chr17:58216226

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669570

rs_187870415

3 SubmittersRCV000592852 RCV001465699 RCV004543358

NM_015631.6(TCTN3):c.1591-5C>T

SNV
Germline

Chr10:95664305

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 18
Orofacial-digital syndrome IV
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5620769

rs_181107730

4 SubmittersRCV000727096 RCV001088953 RCV002531055

NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn)

SNV
Germline

Chr17:58207954

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA8669230

rs_372554696

4 SubmittersRCV000598192 RCV001087688 RCV001823737 RCV001829657

NM_017777.4(MKS1):c.1671G>T (p.Leu557=)

SNV
Germline

Chr17:58206088

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA501324106

rs_11548967

2 SubmittersRCV000592213 RCV001438506

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.2358T>C (p.Asp786=)

SNV
Germline

Chr16:53645950

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA495784490

rs_1468139751

2 SubmittersRCV000598073 RCV002065165

NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)

SNV
Germline

Chr16:53692093

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058113

rs_780770984

6 SubmittersRCV000598220 RCV000817532 RCV001271341 RCV002476313 RCV004530699

NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg)

SNV
Germline

Chr4:15511319

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
not specified
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863449

rs_147499316

5 SubmittersRCV000594378 RCV001057745 RCV003330817 RCV004530704

NM_017777.4(MKS1):c.1605C>G (p.Ala535=)

SNV
Germline

Chr17:58206154

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669062

rs_35493987

3 SubmittersRCV000593726 RCV001495652 RCV004527675

NM_017777.4(MKS1):c.1653G>C (p.Val551=)

SNV
Germline

Chr17:58206106

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669050

rs_34092089

3 SubmittersRCV000596093 RCV001450109 RCV004527676

NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)

SNV
Germline

Chr16:53652986

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA495784761

rs_1555604462

5 SubmittersRCV000594829 RCV001280345 RCV001405001

NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)

SNV
Germline

Chr16:53692254

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome
Inborn genetic diseases
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8058130

rs_201413825

8 SubmittersRCV000596655 RCV001248488 RCV001330328 RCV001829675 RCV003278935 RCV002476328

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

SNV
Germline

Chr17:58206384

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 1
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA501324231

rs_1555596758

3 SubmittersRCV000596382 RCV001329001 RCV001416556

NM_001378615.1(CC2D2A):c.2061G>A (p.Leu687=)

SNV
Germline

Chr4:15540894

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863840

rs_182372139

2 SubmittersRCV000598244 RCV003767396

NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg)

SNV
Germline

Chr4:15553206

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863908

rs_367560550

3 SubmittersRCV000594189 RCV001370617

NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=)

SNV
Germline

Chr4:15537970

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863782

rs_763567590

3 SubmittersRCV000595842 RCV002532591 RCV004732961

NM_017777.4(MKS1):c.903C>T (p.Thr301=)

SNV
Germline

Chr17:58212390

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669365

rs_142805406

2 SubmittersRCV000597858 RCV001086708

NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)

SNV
Germline

Chr2:110144503

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827026

rs_147945403

4 SubmittersRCV000594034 RCV000638098 RCV004543376 RCV005019023

NM_001173990.3(TMEM216):c.4C>T (p.Leu2=)

SNV
Germline

Chr11:61392635

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA474518313

rs_1554972407

2 SubmittersRCV000596208 RCV002532661

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
Joubert syndrome
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864358

rs_146843542

7 SubmittersRCV000593757 RCV001755983 RCV001474086 RCV001146865 RCV001146866 RCV005034177

NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly)

SNV
Germline

Chr4:15574198

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2864219

rs_765661601

4 SubmittersRCV000594362 RCV001312485 RCV004024856 RCV005034179

NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val)

SNV
Germline

Chr1:200565669

Likely pathogenic

Microcephaly 20, primary, autosomal recessive
Joubert syndrome and related disorders

Criteria Provided
Single Submitter

CA35948416

rs_981349334

2 SubmittersRCV000598873 RCV005418240

NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)

SNV
Germline

Chr16:75545360

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8176153

rs_543122080

3 SubmittersRCV002532705 RCV000598629

NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)

SNV
Germline

Chr8:93765413

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nystagmus
Iris coloboma
Generalized hypotonia
Cerebellar vermis hypoplasia
Meckel-Gruber syndrome
Joubert syndrome
6 conditions
Meckel syndrome, type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4807692

rs_765468645

5 SubmittersRCV000613872 RCV000627005 RCV001860256 RCV002506454 RCV003236585

NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)

SNV
Germline

Chr4:15515909

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863521

rs_201465430

8 SubmittersRCV000614384 RCV001146974 RCV001146975 RCV000862325 RCV001700232 RCV004543407

NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)

SNV
Germline

Chr6:135290476

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
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

Joubert syndrome 17
CPLANE1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238648

rs_147588579

8 SubmittersRCV001152543 RCV003927959 RCV000945598

NM_001134831.2(AHI1):c.9A>G (p.Thr3=)

SNV
Germline

Chr6:135492229

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012991

rs_761022642

3 SubmittersRCV001697857 RCV001868049 RCV004752970

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
Condition: not provided
CSPP1-related disorder

Criteria Provided
Conflicting Classifications

CA4771124

rs_201629827

5 SubmittersRCV000714686 RCV001718897 RCV003935669

NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg)

SNV
Germline

Chr12:88054370

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA385975540

rs_1424407266

3 SubmittersRCV000610787 RCV002528645 RCV004732977

NM_025114.4(CEP290):c.1455A>G (p.Glu485=)

SNV
Germline

Chr12:88120181

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712552

rs_755893750

3 SubmittersRCV000602144 RCV000928531 RCV005243308

NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)

SNV
Germline

Chr16:75556115

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 20
Meckel syndrome, type 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8176304

rs_201181950

5 SubmittersRCV000607297 RCV000878633 RCV002528745 RCV004704132

NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)

SNV
Germline

Chr5:37245569

Pathogenic/Likely pathogenic

Inborn genetic diseases
Joubert syndrome and related disorders
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA359523586

rs_1554117456

3 SubmittersRCV000622958 RCV002469220 RCV005034196

NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)

SNV
Germline

Chr8:93795448

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
not specified
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA371692274

rs_1281778614

5 SubmittersRCV000624890 RCV000680126 RCV001855314 RCV001821759 RCV004732979

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

5 SubmittersRCV000625743 RCV001234516

NM_001384732.1(CPLANE1):c.5738-2A>G

SNV
Germline

Chr5:37179445

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA117066316

rs_565629362

1 SubmittersRCV000626084

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

Joubert syndrome 9
7 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356410089

rs_1553827236

2 SubmittersRCV001197299 RCV000626743 RCV001784183

NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter)

SNV
Germline

Chr2:110123968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348086183

rs_1473345628

3 SubmittersRCV000627303 RCV003117437 RCV005019040

NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000779118 RCV000763316 RCV000814304 RCV003465363

NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter)

SNV
Germline

Chr1:3839096

Pathogenic/Likely pathogenic

Joubert syndrome 25
Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Multiple Submitters
No Conflicts

CA551820

rs_372048855

3 SubmittersRCV000652584 RCV005027768

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_001382391.1(CSPP1):c.5C>T (p.Ala2Val)

SNV
Germline

Chr8:67074257

Conflicting classifications of pathogenicity

Joubert syndrome 21
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4770098

rs_553988238

4 SubmittersRCV000652005 RCV003126892 RCV005550021

NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)

SNV
Germline

Chr8:93793267

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome and related disorders
Meckel syndrome, type 3
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA4808035

rs_747025617

5 SubmittersRCV000636959 RCV001591420 RCV001779030 RCV003338698 RCV005049626

NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala)

SNV
Germline

Chr9:136431102

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 1
MORM syndrome
INPP5E-related disorder
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA5336724

rs_771866500

4 SubmittersRCV000636942 RCV005044925 RCV004755997 RCV004768490

NM_016169.4(SUFU):c.26C>T (p.Ala9Val)

SNV
Germline

Chr10:102504178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Medulloblastoma
Gorlin syndrome
Familial meningioma
Condition: not provided
Familial meningioma
Basal cell nevus syndrome 2
Medulloblastoma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA377886134

rs_775491374

5 SubmittersRCV001016349 RCV000628510 RCV003459485 RCV003237957 RCV005027739

NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)

SNV
Germline

Chr10:95685579

Conflicting classifications of pathogenicity

Joubert syndrome 18
Orofacial-digital syndrome IV
TCTN3-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5621010

rs_200042949

9 SubmittersRCV000650532 RCV004533402 RCV001572868 RCV003151118

NM_025114.4(CEP290):c.1523-1G>T

SNV
Germline

Chr12:88118744

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA385979532

rs_1192112844

2 SubmittersRCV000636997 RCV001829789

NM_025114.4(CEP290):c.3594G>A (p.Ser1198=)

SNV
Germline

Chr12:88089467

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6712109

rs_376645523

2 SubmittersRCV000733948 RCV001088081

NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)

SNV
Germline

Chr12:88125357

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV004732982 RCV003459522

NM_025114.4(CEP290):c.4068T>G (p.Leu1356=)

SNV
Germline

Chr12:88087906

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712031

rs_377227262

2 SubmittersRCV001088958 RCV000733952

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
not specified

Criteria Provided
Conflicting Classifications

CA7206223

rs_201202020

4 SubmittersRCV000652582 RCV001564178 RCV003918073 RCV004689828

NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)

SNV
Germline

Chr14:58482571

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7206037

rs_199537542

6 SubmittersRCV001584506 RCV000652575 RCV001816637 RCV004985050

NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)

SNV
Germline

Chr16:53652983

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
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_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)

SNV
Germline

Chr16:53652978

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8057714

rs_111459222

4 SubmittersRCV000636947 RCV001271281 RCV001549364 RCV002483809

NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp)

SNV
Germline

Chr16:53649095

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057604

rs_373201651

4 SubmittersRCV000636953 RCV001835889 RCV002529857 RCV004533330

NM_003611.3(OFD1):c.748G>T (p.Glu250Ter)

SNV
Germline

ChrX:13746873

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Single Submitter

CA412338029

rs_1555902866

1 SubmittersRCV000638944

NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)

SNV
Germline

ChrX:13749490

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351708

rs_778349684

3 SubmittersRCV000638947 RCV000766074 RCV004737917

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

CA2504326

rs_142510905

6 SubmittersRCV000657985 RCV000764519 RCV003372797

NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)

SNV
Unknown

Chr11:61397880

Likely pathogenic

Joubert syndrome 2
Meckel syndrome, type 2

No Assertion Criteria Provided

CA380686285

rs_147267631

1 SubmittersRCV001787343

NM_001173990.3(TMEM216):c.137-1G>A

SNV
Germline

Chr11:61393883

Likely pathogenic

Joubert syndrome
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Single Submitter

CA380685017

rs_1554972547

2 SubmittersRCV000810263 RCV001787350

NM_017777.4(MKS1):c.1166-2A>G

SNV
Germline

Chr17:58208003

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400325603

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
Joubert syndrome 28
Bardet-Biedl syndrome 13
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1
Condition: not provided
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400326384

rs_1555599412

5 SubmittersRCV000670245 RCV000701980 RCV002469247 RCV004719933 RCV003472123

NM_017777.4(MKS1):c.1A>G (p.Met1Val)

SNV
Unknown

Chr17:58219230

Likely pathogenic

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

No Assertion Criteria Provided

CA400328265

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

Criteria Provided
Conflicting Classifications

CA292007497

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8669388

rs_756102768

3 SubmittersRCV000672305 RCV002225110 RCV003767996

NM_017777.4(MKS1):c.515+2T>G

SNV
Unknown

Chr17:58214739

Likely pathogenic

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

No Assertion Criteria Provided

CA400327107

rs_1376664664

1 SubmittersRCV000669368

NM_017777.4(MKS1):c.190+2T>C

SNV
Germline

Chr17:58218618

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8669630

rs_375170572

10 SubmittersRCV000665861 RCV000800425 RCV001274929 RCV001580533 RCV001784235 RCV003472074 RCV004732989

NM_017777.4(MKS1):c.1408-2A>G

SNV
Unknown

Chr17:58206549

Likely pathogenic

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

No Assertion Criteria Provided

CA400324788

rs_1555596943

1 SubmittersRCV000672643

NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)

SNV
Germline

Chr17:6624770

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Joubert syndrome
Condition: not provided
Jeune thoracic dystrophy
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV
Joubert syndrome 38
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV

Criteria Provided
Conflicting Classifications

CA8330698

rs_752659088

7 SubmittersRCV000984620 RCV001269992 RCV000754953 RCV001559339 RCV005027831 RCV004812351

NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr)

SNV
Germline

Chr8:93755787

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA371685538

rs_1563673490

2 SubmittersRCV000680128 RCV003768037

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

CA1827180

rs_765263671

4 SubmittersRCV000702943 RCV001200637 RCV003472242 RCV002507229

NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val)

SNV
Germline

Chr4:15533272

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863704

rs_751646059

4 SubmittersRCV000690894 RCV000730780 RCV004601244

NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)

SNV
Germline

Chr4:15599584

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2864414

rs_767260373

2 SubmittersRCV000703032 RCV000984486

NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter)

SNV
Germline

Chr5:37169324

Pathogenic/Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA359479990

rs_1381740657

2 SubmittersRCV000700801 RCV005046956

NM_001384732.1(CPLANE1):c.7588+7A>G

SNV
Germline

Chr5:37164266

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3238018

rs_773662834

4 SubmittersRCV002249424 RCV001361695 RCV004702359

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

CA4770429

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

CA371194868

rs_1380418532

1 SubmittersRCV000705921

NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter)

SNV
Germline

Chr9:136429766

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375560310

rs_1564430716

1 SubmittersRCV000689290

NM_001384732.1(CPLANE1):c.677+1G>C

SNV
Germline

Chr5:37243012

Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA359518675

rs_1414913269

2 SubmittersRCV001377203 RCV005046960

NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)

SNV
Germline

Chr6:135433188

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012440

rs_756276537

4 SubmittersRCV003317340 RCV000688299 RCV002298739 RCV005034295

NM_016464.5(TMEM138):c.461G>A (p.Arg154His)

SNV
Germline

Chr11:61368681

Conflicting classifications of pathogenicity

Joubert syndrome 16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6034668

rs_147966742

3 SubmittersRCV000691451 RCV005223123

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

CA389871277

rs_1566827747

1 SubmittersRCV000685038

NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)

SNV
Germline

Chr12:88130553

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Leber congenital amaurosis
Inborn genetic diseases
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6712767

rs_772170760

7 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002536346 RCV003465619 RCV002499260 RCV005620388

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

CA8176066

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

CA389882989

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8176289

rs_200063331

5 SubmittersRCV000685081 RCV001731886 RCV002544710 RCV005436006

NM_017777.4(MKS1):c.645-2A>T

SNV
Germline

Chr17:58213871

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA8669446

rs_773036963

1 SubmittersRCV000693067

NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712327

rs_201569048

8 SubmittersRCV001115045 RCV001829910 RCV000689950 RCV001115041 RCV001115043 RCV004026344 RCV002477547 RCV005407885 RCV001115042 RCV001115044 RCV001756171 RCV004527741

NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter)

SNV
Germline

ChrX:13756669

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412342732

rs_1569141500

1 SubmittersRCV000706240

NM_003611.3(OFD1):c.324G>A (p.Met108Ile)

SNV
Germline

ChrX:13738857

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10
Retinitis pigmentosa 23
not specified
Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10351574

rs_763219658

4 SubmittersRCV000766073 RCV003330905 RCV000692393 RCV003133533

NM_017777.4(MKS1):c.1387C>G (p.Arg463Gly)

SNV
Germline

Chr17:58207105

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA292008166

rs_766392300

1 SubmittersRCV000706163

NM_003611.3(OFD1):c.312+1G>T

SNV
Germline

ChrX:13736679

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412333581

rs_1569102786

1 SubmittersRCV000706155

NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr12:88111318

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712362

rs_753884599

6 SubmittersRCV000710064 RCV001868322 RCV003465647 RCV002493254 RCV004817947 RCV003141716

NM_003611.3(OFD1):c.919G>A (p.Val307Ile)

SNV
Germline

ChrX:13749517

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351711

rs_139444990

4 SubmittersRCV000712459 RCV002060889 RCV004535766 RCV004026820

NM_004311.4(ARL3):c.445C>T (p.Arg149Cys)

SNV
Germline

Chr10:102685872

Pathogenic

Joubert syndrome 35
Condition: not provided

Criteria Provided
Single Submitter

CA5668429

rs_776901858

2 SubmittersRCV000714511 RCV001861999

NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe)

SNV
Germline

ChrX:13760652

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351946

rs_375698090

2 SubmittersRCV002060911 RCV004026864

NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)

SNV
Germline

Chr16:53687912

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
RPGRIP1L-related disorder
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395924473

rs_1277577195

6 SubmittersRCV000812456 RCV000722572 RCV002507274 RCV004733019 RCV001273840

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
Single Submitter

CA377708266

rs_1566074908

3 SubmittersRCV000722640 RCV002535034 RCV004535803

NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)

SNV
Germline

Chr12:88115149

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA385977222

rs_1203763812

2 SubmittersRCV001211577 RCV000722987

NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr)

SNV
Germline

Chr9:136430292

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Rod-cone dystrophy
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA5336668

rs_765327224

5 SubmittersRCV000723153 RCV004817953 RCV001376432 RCV001862127

NM_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val)

SNV
Germline

Chr4:15563497

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864086

rs_148194457

4 SubmittersRCV000727678 RCV000820282 RCV002533080

NM_001378615.1(CC2D2A):c.880+7G>A

SNV
Germline

Chr4:15514876

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA549889300

rs_1445614932

2 SubmittersRCV000728120 RCV002535058

NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=)

SNV
Germline

Chr4:15516717

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA438382099

rs_1289826078

2 SubmittersRCV000728142 RCV003768176

NM_001378615.1(CC2D2A):c.881-8C>T

SNV
Germline

Chr4:15515860

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863519

rs_114387988

4 SubmittersRCV000728190 RCV001438927 RCV004733020

NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=)

SNV
Germline

Chr4:15599544

Conflicting classifications of pathogenicity

Condition: not provided
CC2D2A-related disorder
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864403

rs_762143074

3 SubmittersRCV000728315 RCV004733022 RCV001402437

NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu)

SNV
Germline

Chr4:15574173

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864216

rs_766400907

3 SubmittersRCV000728616 RCV003768178

NM_017777.4(MKS1):c.644+9C>T

SNV
Germline

Chr17:58214250

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669456

rs_754404940

4 SubmittersRCV001816795 RCV001080038 RCV000728775 RCV004733024

NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)

SNV
Germline

Chr4:15599585

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
not specified
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864415

rs_200645738

7 SubmittersRCV000728777 RCV001245116 RCV003994099 RCV005036052

NM_017777.4(MKS1):c.515+8C>T

SNV
Germline

Chr17:58214733

Conflicting classifications of pathogenicity

Condition: not provided
MKS1-related disorder
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669500

rs_376823839

3 SubmittersRCV000728889 RCV004535815 RCV001086414

NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)

SNV
Germline

Chr4:15601290

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864467

rs_774919996

3 SubmittersRCV000728938 RCV003768185 RCV004535816

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

CA5620793

rs_201367852

2 SubmittersRCV000729125 RCV001449195

NM_017777.4(MKS1):c.262-10G>A

SNV
Germline

Chr17:58216253

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669573

rs_772852025

2 SubmittersRCV000729550 RCV002536431

NM_001378615.1(CC2D2A):c.4065+2T>C

SNV
Germline

Chr4:15586248

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356428591

rs_1179041639

2 SubmittersRCV001868945 RCV000729709

NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg)

SNV
Germline

Chr4:15515936

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863525

rs_188018643

3 SubmittersRCV000730217 RCV001868951 RCV005036060

NM_001378615.1(CC2D2A):c.3280C>G (p.Leu1094Val)

SNV
Germline

Chr4:15567474

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864120

rs_200518703

3 SubmittersRCV000730793 RCV001052047 RCV002535171

NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)

SNV
Germline

Chr2:110169913

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348093020

rs_1349732291

3 SubmittersRCV000730826 RCV002493328 RCV003748273

NM_025114.4(CEP290):c.2067G>A (p.Lys689=)

SNV
Germline

Chr12:88111844

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA481050498

rs_1425613490

3 SubmittersRCV000731111 RCV001473193 RCV004535841

NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)

SNV
Germline

Chr4:15550961

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA438388076

rs_1379770755

3 SubmittersRCV001148605 RCV001150182 RCV000731362 RCV001419735

NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=)

SNV
Germline

Chr4:15480823

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863308

rs_766042434

3 SubmittersRCV000731727 RCV002535237 RCV004535850

NM_001378615.1(CC2D2A):c.4303G>A (p.Gly1435Ser)

SNV
Germline

Chr4:15589668

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864365

rs_56265649

3 SubmittersRCV000731769 RCV002067124 RCV004965722

NM_001378615.1(CC2D2A):c.2270C>A (p.Ala757Asp)

SNV
Germline

Chr4:15550912

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863876

rs_377188181

4 SubmittersRCV001427308 RCV000732284 RCV005532749

NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=)

SNV
Germline

Chr4:15550838

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863865

rs_764246302

3 SubmittersRCV000732381 RCV002535269

NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)

SNV
Germline

Chr16:53652562

Pathogenic/Likely pathogenic

Condition: not provided
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281343836

rs_1037406858

4 SubmittersRCV000732387 RCV002485914 RCV001855682 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

CA7205258

rs_202124602

6 SubmittersRCV000732393 RCV001318623 RCV001809790 RCV002535271

NM_001378615.1(CC2D2A):c.4815T>C (p.Asn1605=)

SNV
Germline

Chr4:15601377

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864485

rs_370146822

2 SubmittersRCV000732444 RCV001462082

NM_001378615.1(CC2D2A):c.1140G>A (p.Leu380=)

SNV
Germline

Chr4:15516747

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863571

rs_373742688

2 SubmittersRCV000732791 RCV003768225

NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter)

SNV
Germline

Chr8:93754964

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome and related disorders
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA371685136

rs_1563672487

4 SubmittersRCV000732837 RCV004586909 RCV003768227 RCV005047001

NM_017777.4(MKS1):c.1274-4G>A

SNV
Germline

Chr17:58207222

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669177

rs_377033778

3 SubmittersRCV001405920 RCV000733086 RCV004535865

NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)

SNV
Germline

Chr4:15533223

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863698

rs_368116362

3 SubmittersRCV000733104 RCV001855698 RCV004535867

NM_017777.4(MKS1):c.1557C>T (p.Phe519=)

SNV
Germline

Chr17:58206314

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA400324428

rs_1433060710

2 SubmittersRCV000733415 RCV001441186

NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)

SNV
Germline

Chr4:15599615

Conflicting classifications of pathogenicity

Condition: not provided
not specified
COACH syndrome 2
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA92536417

rs_886940102

7 SubmittersRCV000733512 RCV003155300 RCV004798862 RCV003106045 RCV004527765 RCV005036071

NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)

SNV
Germline

Chr4:15574207

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864220

rs_375278294

3 SubmittersRCV000733749 RCV001458597 RCV004535870

NM_001378615.1(CC2D2A):c.1392C>A (p.Gly464=)

SNV
Germline

Chr4:15528652

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863657

rs_755258233

2 SubmittersRCV000733985 RCV001088443

NM_001378615.1(CC2D2A):c.2016G>A (p.Ser672=)

SNV
Germline

Chr4:15540849

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2863826

rs_369398469

2 SubmittersRCV001458145 RCV000734123

NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr4:15514740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863489

rs_374554530

6 SubmittersRCV001063569 RCV001145025 RCV000734125 RCV001145026 RCV004527766 RCV003258954 RCV005029398

NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=)

SNV
Germline

Chr4:15538000

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA438463556

rs_1560171734

2 SubmittersRCV000734769 RCV003768247

NM_001378615.1(CC2D2A):c.3417T>C (p.Tyr1139=)

SNV
Germline

Chr4:15569311

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864170

rs_749549856

2 SubmittersRCV000735011 RCV001404467

NM_001378615.1(CC2D2A):c.3198G>A (p.Pro1066=)

SNV
Germline

Chr4:15567392

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA92515341

rs_970431525

2 SubmittersRCV000735024 RCV003768250

NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)

SNV
Germline

Chr11:61393253

Conflicting classifications of pathogenicity

Joubert syndrome 2
Condition: not provided
Joubert syndrome
Meckel syndrome, type 2
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

CA222895076

rs_769285695

4 SubmittersRCV001102918 RCV000735031 RCV001496135 RCV001102917 RCV004540076

NM_001128178.3(NPHP1):c.771+3G>A

SNV
Germline

Chr2:110164685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA427918973

rs_1365022834

3 SubmittersRCV000735157 RCV002507313 RCV002535419

NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)

SNV
Germline

Chr13:72908550

Likely pathogenic

Cephalocele
Joubert syndrome 33
Joubert syndrome 33
Dandy-Walker syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7002302

rs_144610914

7 SubmittersRCV000779664 RCV000735944 RCV001257995

NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr13:72893914

Pathogenic

Joubert syndrome 33

No Assertion Criteria Provided

CA7002265

rs_539010725

2 SubmittersRCV000735820

NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter)

SNV
Germline

ChrX:13768111

Pathogenic

Joubert syndrome
Primary ciliary dyskinesia

No Assertion Criteria Provided

CA412312920

rs_1569164829

1 SubmittersRCV000758012

NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter)

SNV
Germline

ChrX:13768093

Pathogenic

Joubert syndrome
Primary ciliary dyskinesia

No Assertion Criteria Provided

CA412312731

rs_1569164733

1 SubmittersRCV000758013

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

CA389885507

rs_1566903524

2 SubmittersRCV000760761 RCV001250539

NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)

SNV
Germline

Chr16:53645857

Pathogenic/Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281339352

rs_145807002

3 SubmittersRCV002485971 RCV000760815 RCV001869036

NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)

SNV
Germline

Chr6:135394853

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Joubert syndrome 3
Retinitis pigmentosa
Joubert syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4012186

rs_777215595

10 SubmittersRCV000762434 RCV001073854 RCV001785719 RCV001002862 RCV001237047 RCV004702399

NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter)

SNV
Germline

Chr4:15515900

Pathogenic

Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356409564

rs_1158349299

2 SubmittersRCV001265789 RCV001869144

NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)

SNV
Germline

Chr7:130399037

Conflicting classifications of pathogenicity

Joubert syndrome 15

Criteria Provided
Conflicting Classifications

CA4485417

rs_782286004

2 SubmittersRCV000778820

NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)

SNV
Germline

Chr17:58216135

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292014691

rs_990955357

4 SubmittersRCV001729702 RCV001389425 RCV003989601 RCV003472305

NM_001378615.1(CC2D2A):c.4496+2T>C

SNV
Germline

Chr4:15597467

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA2864390

rs_386833762

1 SubmittersRCV001869137

NM_024809.5(TCTN2):c.1770-2A>G

SNV
Germline

Chr12:123706724

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387148400

rs_1566265412

1 SubmittersRCV002535646

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

CA252588738

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

CA2504032

rs_529580146

3 SubmittersRCV000784937 RCV001575449

NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter)

SNV
Germline

Chr4:15533194

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356410822

rs_1288358527

2 SubmittersRCV000784925 RCV003768461

NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)

SNV
Germline

Chr4:15555146

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356420587

rs_1560180188

3 SubmittersRCV000785072 RCV001869170 RCV005029441

NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)

SNV
Germline

Chr2:201632186

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA63955656

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

CA350316296

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

CA359499333

rs_1482303814

2 SubmittersRCV000785944

NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)

SNV
Germline

Chr12:88071860

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711646

rs_561598805

6 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316 RCV005004418

NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr12:88118660

Pathogenic/Likely pathogenic

Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA385979179

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

CA395923378

rs_1567800920

2 SubmittersRCV000785895

NM_025114.4(CEP290):c.5587-1G>C

SNV
Germline

Chr12:88077345

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241153138

rs_968692633

10 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
Joubert syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365741985

rs_751823180

4 SubmittersRCV000791182 RCV000987786 RCV001856246 RCV004818031

NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)

SNV
Germline

Chr2:201628118

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA2056357

rs_775449384

1 SubmittersRCV000801648

NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala)

SNV
Germline

Chr4:15540923

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2863844

rs_766282869

3 SubmittersRCV000813003 RCV004538114 RCV004792512

NM_001378615.1(CC2D2A):c.4550C>T (p.Thr1517Ile)

SNV
Germline

Chr4:15599582

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA356433891

rs_780673487

2 SubmittersRCV000821855 RCV005407997

NM_001384732.1(CPLANE1):c.6695C>T (p.Ser2232Phe)

SNV
Germline

Chr5:37169329

Conflicting classifications of pathogenicity

Condition: not provided
CPLANE1-related disorder
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA3238200

rs_751344423

3 SubmittersRCV000797181 RCV003983206 RCV005036146

NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)

SNV
Germline

Chr6:135448458

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012587

rs_371835751

2 SubmittersRCV000805329 RCV001155543

NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)

SNV
Germline

Chr8:67149794

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 21

Criteria Provided
Conflicting Classifications

CA4770717

rs_199996939

3 SubmittersRCV001560586 RCV000814999

NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp)

SNV
Germline

Chr8:93786252

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA4807930

rs_774746409

2 SubmittersRCV000795737 RCV005047066

NM_153704.6(TMEM67):c.2128A>G (p.Met710Val)

SNV
Germline

Chr8:93799645

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA181341875

rs_112261772

1 SubmittersRCV000794153

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa
Joubert syndrome 1
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA241150716

rs_778030031

6 SubmittersRCV000815985 RCV002495153 RCV003324535 RCV000988881 RCV003467476 RCV004733054

NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter)

SNV
Germline

Chr12:88087788

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385998850

rs_1459653241

1 SubmittersRCV000796936

NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087934

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385999345

rs_1339975972

3 SubmittersRCV000820623 RCV003467498 RCV005004450

NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)

SNV
Germline

Chr12:88089259

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000671

rs_1468942944

3 SubmittersRCV000823686 RCV001830822 RCV003467520

NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)

SNV
Germline

Chr12:88118549

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712499

rs_760415289

9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV003467439 RCV002487758 RCV004733051 RCV004818045

NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr12:88125363

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385981555

rs_1592656929

1 SubmittersRCV000791790

NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr12:88136762

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Night blindness
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
CEP290-related disorder
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA385987715

rs_1290241933

8 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052 RCV005004443

NM_025114.4(CEP290):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr12:88140970

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385989775

rs_1592706963

1 SubmittersRCV000823106

NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys)

SNV
Germline

Chr14:58492265

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7206292

rs_201929144

2 SubmittersRCV000806165 RCV004028239

NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter)

SNV
Germline

Chr16:53652742

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057670

rs_751477523

3 SubmittersRCV000807403 RCV001825602 RCV005231360

NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter)

SNV
Germline

Chr16:53652814

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395917140

rs_1156977888

1 SubmittersRCV000817193

NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter)

SNV
Germline

Chr16:53672953

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395922914

rs_1598375579

1 SubmittersRCV000793552

NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr16:53696185

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395925850

rs_751444506

5 SubmittersRCV000793385 RCV002282368 RCV002263980 RCV004733043 RCV005021195

NM_015681.6(B9D1):c.151T>C (p.Ser51Pro)

SNV
Germline

Chr17:19357933

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 27
Condition: not provided
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA8440336

rs_546359789

5 SubmittersRCV000821741 RCV001265575 RCV001759613 RCV005407995

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

SNV
Germline

Chr2:201629728

Pathogenic/Likely pathogenic

Joubert syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA350310030

rs_793888505

2 SubmittersRCV000810011

NM_001378615.1(CC2D2A):c.2625+1G>A

SNV
Germline

Chr4:15555211

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356420893

rs_1577372471

2 SubmittersRCV000798242 RCV005036152

NM_001134831.2(AHI1):c.2492+1G>A

SNV
Germline

Chr6:135429881

Pathogenic/Likely pathogenic

Joubert syndrome
Condition: not provided
Joubert syndrome 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4012367

rs_187245292

4 SubmittersRCV000819382 RCV000998688 RCV005036211 RCV004768701

NM_025114.4(CEP290):c.3104-5T>G

SNV
Germline

Chr12:88093980

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA693075676

rs_1302558061

2 SubmittersRCV000824247 RCV005004455

NM_015272.5(RPGRIP1L):c.3617-2A>G

SNV
Germline

Chr16:53611053

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder

Criteria Provided
Single Submitter

CA281352825

rs_781683750

2 SubmittersRCV000799949 RCV004723197

NM_015272.5(RPGRIP1L):c.883-2A>G

SNV
Germline

Chr16:53673018

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395923067

rs_1598375731

1 SubmittersRCV000819951

NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter)

SNV
Germline

Chr5:37226317

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA3239051

rs_762334514

2 SubmittersRCV000826097 RCV005047124

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

CA6786429

rs_762612208

2 SubmittersRCV000841470 RCV001114792

NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)

SNV
Germline

Chr12:88077266

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711680

rs_186330724

3 SubmittersRCV001219059 RCV000841438 RCV004538159

NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)

SNV
Germline

Chr12:88089085

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712051

rs_377156725

4 SubmittersRCV000827318 RCV002538257 RCV004733059 RCV005004458

NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)

SNV
Germline

Chr12:88083854

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Retinal dystrophy
Inborn genetic diseases
CEP290-related disorder
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA6711864

rs_369451049

8 SubmittersRCV001000093 RCV001244303 RCV001830860 RCV003448352 RCV003889992 RCV004029250 RCV004538167 RCV005012383

NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly)

SNV
Germline

Chr4:15599587

Likely pathogenic

Meckel syndrome, type 6
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356433914

rs_1577406415

2 SubmittersRCV001000096 RCV005036236

NM_001378615.1(CC2D2A):c.4088G>T (p.Gly1363Val)

SNV
Germline

Chr4:15587838

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA356428736

rs_762683334

2 SubmittersRCV001000097 RCV004796330

NM_001044385.3(TMEM237):c.275-2A>G

SNV
Germline

Chr2:201633433

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA350314387

rs_1574582671

1 SubmittersRCV000853295

NM_153704.6(TMEM67):c.313-3T>G

SNV
Germline

Chr8:93758480

Likely pathogenic

Joubert syndrome 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA915948835

rs_1586336362

2 SubmittersRCV000853609 RCV004721651

NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr6:135455774

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA4012624

rs_545841352

4 SubmittersRCV000862128 RCV001155544 RCV002225753 RCV005626241

NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)

SNV
Germline

Chr12:110640419

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 13

Criteria Provided
Conflicting Classifications

CA6786764

rs_371899538

2 SubmittersRCV000860724 RCV001111501

NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)

SNV
Germline

Chr12:123694892

Conflicting classifications of pathogenicity

Meckel syndrome, type 8
Joubert syndrome 24
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6861123

rs_372235872

2 SubmittersRCV001114300 RCV001114301 RCV001434420

NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711785

rs_375817905

6 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193 RCV005012385

NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712401

rs_200454865

8 SubmittersRCV000860704 RCV001111804 RCV001111805 RCV001111806 RCV001111807 RCV001275033 RCV001112276 RCV001546810 RCV004538174 RCV005359613

NM_015681.6(B9D1):c.516C>T (p.Asn172=)

SNV
Germline

Chr17:19343418

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 9

Criteria Provided
Conflicting Classifications

CA8440079

rs_149758860

2 SubmittersRCV000861223 RCV001124458

NM_001134831.2(AHI1):c.3329-7A>G

SNV
Germline

Chr6:135318623

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012037

rs_370808684

3 SubmittersRCV000862144 RCV003148888 RCV005047131

NM_153704.6(TMEM67):c.1734C>T (p.Ile578=)

SNV
Germline

Chr8:93795468

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA4808064

rs_774011311

2 SubmittersRCV001398330 RCV005049718

NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys)

SNV
Germline

Chr9:136434095

Conflicting classifications of pathogenicity

Joubert syndrome
INPP5E-related disorder
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5337006

rs_200794870

3 SubmittersRCV000866301 RCV004540197 RCV005047132

NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)

SNV
Germline

Chr9:136439116

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA5337185

rs_187724945

2 SubmittersRCV001168668 RCV001487906

NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

Joubert syndrome
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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711720

rs_370464321

4 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057 RCV005306188

NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711789

rs_757738553

5 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110313 RCV001110312 RCV001110314 RCV005012389 RCV004538287 RCV004797884

NM_025114.4(CEP290):c.3498T>G (p.Val1166=)

SNV
Germline

Chr12:88090803

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712129

rs_750099379

3 SubmittersRCV000865008 RCV004733070 RCV005012386

NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related disorder
Genetic developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA6712248

rs_546463648

5 SubmittersRCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV001113520 RCV004540210 RCV005626246

NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Kidney disorder
Leber congenital amaurosis
Retinal dystrophy
CEP290-related disorder
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712294

rs_147362398

7 SubmittersRCV000864755 RCV001111620 RCV001111621 RCV001111622 RCV001111624 RCV001111623 RCV002294390 RCV001275029 RCV003889993 RCV004538226 RCV005359621

NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly)

SNV
Germline

Chr16:53602096

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057121

rs_547718820

3 SubmittersRCV000867423 RCV001276305 RCV004538254

NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)

SNV
Germline

Chr16:53638360

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057385

rs_574430009

4 SubmittersRCV000868807 RCV001271324 RCV001115636 RCV001115635 RCV001115637 RCV004726709

NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)

SNV
Germline

Chr16:53696186

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
not specified

Criteria Provided
Conflicting Classifications

CA8058193

rs_550006406

3 SubmittersRCV000867681 RCV001119074 RCV001119075 RCV001119076 RCV004702484

NM_017777.4(MKS1):c.1209G>A (p.Ser403=)

SNV
Germline

Chr17:58207958

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669231

rs_770493819

3 SubmittersRCV000866054 RCV001123685 RCV001123684

NM_017777.4(MKS1):c.729G>A (p.Thr243=)

SNV
Germline

Chr17:58213785

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669436

rs_373491923

4 SubmittersRCV000868086 RCV001128411 RCV001128410 RCV004540208

NM_015272.5(RPGRIP1L):c.2305-8T>G

SNV
Germline

Chr16:53646011

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Kidney disorder
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA281339553

rs_953486434

3 SubmittersRCV000867250 RCV002294391 RCV001279157

NM_003611.3(OFD1):c.2600-4T>G

SNV
Germline

ChrX:13767123

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10352056

rs_753195130

2 SubmittersRCV001511002 RCV004721659

NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp)

SNV
Germline

Chr2:201629321

Conflicting classifications of pathogenicity

Joubert syndrome 14
Inborn genetic diseases
TMEM237-related disorder

Criteria Provided
Conflicting Classifications

CA2056397

rs_151163650

3 SubmittersRCV000878657 RCV004027911 RCV003948275

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

CA4485751

rs_147494464

4 SubmittersRCV000878049 RCV001567050 RCV003930457

NM_019892.6(INPP5E):c.1716C>T (p.Ser572=)

SNV
Germline

Chr9:136430363

Conflicting classifications of pathogenicity

Joubert syndrome
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA201638328

rs_888610698

2 SubmittersRCV000871606 RCV005047136

NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)

SNV
Germline

Chr9:136431843

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5336763

rs_780119172

3 SubmittersRCV001166878 RCV001401870 RCV004721668

NM_025114.4(CEP290):c.1057C>T (p.Leu353=)

SNV
Germline

Chr12:88126324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241155305

rs_1036812157

2 SubmittersRCV000872788 RCV005012390

NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys)

SNV
Germline

Chr14:58453460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7205587

rs_147844088

2 SubmittersRCV001519842 RCV004773207

NM_003611.3(OFD1):c.569G>A (p.Arg190His)

SNV
Germline

ChrX:13746370

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351646

rs_150560046

2 SubmittersRCV001520548 RCV004027844

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

CA2056471

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

CA3237574

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

CA3238801

rs_145018253

4 SubmittersRCV000950899 RCV001153835

NM_001384732.1(CPLANE1):c.3234A>G (p.Gln1078=)

SNV
Germline

Chr5:37205370

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA3238984

rs_756432435

2 SubmittersRCV000951765 RCV005036254

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

CA7002398

rs_143644781

2 SubmittersRCV000950227 RCV001334537

NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)

SNV
Germline

Chr14:58428446

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided
KIAA0586-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7205280

rs_183168709

5 SubmittersRCV000954008 RCV001559430 RCV003925991 RCV004629391

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

CA7205452

rs_193056942

8 SubmittersRCV000952078 RCV001585883 RCV001818977 RCV002547231 RCV003925952

NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys)

SNV
Germline

Chr14:58488646

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

CA7206196

rs_200722491

5 SubmittersRCV000945544 RCV001593136 RCV003933232

NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=)

SNV
Germline

Chr14:58492146

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
KIAA0586-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA261649978

rs_188676684

4 SubmittersRCV000945758 RCV003913202 RCV004705952

NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)

SNV
Germline

Chr14:58492147

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

CA7206283

rs_181413894

4 SubmittersRCV000951210 RCV004986710 RCV001473687 RCV003943031

NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)

SNV
Germline

Chr14:58547804

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

CA7206440

rs_140026883

6 SubmittersRCV000945424 RCV001087173 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

CA2056553

rs_372100073

4 SubmittersRCV000964672 RCV003883516 RCV003972832

NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=)

SNV
Germline

Chr5:37183228

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3238628

rs_373122844

4 SubmittersRCV002066423 RCV001158022 RCV003960842

NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu)

SNV
Germline

Chr14:58547844

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7206445

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

CA551522

rs_140512094

4 SubmittersRCV002065589 RCV002539405 RCV003489958 RCV003940731

NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)

SNV
Germline

Chr2:201636846

Conflicting classifications of pathogenicity

Joubert syndrome 14
Inborn genetic diseases
TMEM237-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2056554

rs_199624987

5 SubmittersRCV000879981 RCV002536816 RCV003908400 RCV001563528

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

CA3238846

rs_375780513

3 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

CA3237557

rs_557372169

2 SubmittersRCV000908319 RCV001153533

NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln)

SNV
Germline

ChrX:13760421

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351912

rs_746612831

2 SubmittersRCV000899438 RCV002065676

NM_001378615.1(CC2D2A):c.2182-9G>A

SNV
Germline

Chr4:15550815

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863861

rs_376312792

3 SubmittersRCV000896097 RCV005029526

NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)

SNV
Germline

Chr9:136431894

Conflicting classifications of pathogenicity

Joubert syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5336780

rs_754015058

2 SubmittersRCV001168594 RCV000925655

NM_001077418.3(TMEM231):c.870C>T (p.Phe290=)

SNV
Germline

Chr16:75540075

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176004

rs_541349898

3 SubmittersRCV000917898 RCV004704320

NM_025114.4(CEP290):c.6358-5C>T

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711508

rs_372986399

4 SubmittersRCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001114082 RCV000915534 RCV001272014 RCV004533513

NM_014704.4(CEP104):c.626A>G (p.Glu209Gly)

SNV
Germline

Chr1:3839717

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome 25

Criteria Provided
Conflicting Classifications

CA551863

rs_140029326

3 SubmittersRCV000981702 RCV005236495 RCV002066495

NM_014704.4(CEP104):c.550G>C (p.Glu184Gln)

SNV
Germline

Chr1:3844923

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 25
not specified

Criteria Provided
Conflicting Classifications

CA551934

rs_146922115

4 SubmittersRCV000981701 RCV002066494 RCV005236494

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

CA117082569

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

CA365744706

rs_1583276758

1 SubmittersRCV000987789

NM_016169.4(SUFU):c.37A>C (p.Thr13Pro)

SNV
Germline

Chr10:102504189

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Basal cell nevus syndrome 2
Medulloblastoma
Familial meningioma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA377886198

rs_1456048322

3 SubmittersRCV000988446 RCV003238258 RCV005392622

NM_025114.4(CEP290):c.6271-8T>G

SNV
Germline

Chr12:88062786

Pathogenic/Likely pathogenic

Joubert syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA241147940

rs_1039146791

4 SubmittersRCV000988880 RCV001869357 RCV003467551 RCV002252287

NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)

SNV
Unknown

Chr12:88084586

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA385994330

rs_1592836704

1 SubmittersRCV000988882

NM_025114.4(CEP290):c.1522+1G>C

SNV
Unknown

Chr12:88120113

Pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA385979621

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

CA385983941

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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
not specified
Retinitis pigmentosa
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA6712876

rs_779010679

6 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415

NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)

SNV
Unknown

Chr12:88141294

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA385990528

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

CA4770994

rs_587777142

2 SubmittersRCV000991297

NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)

SNV
Germline

Chr4:15511353

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863458

rs_768733110

4 SubmittersRCV000998222 RCV001039863 RCV004545002

NM_019892.6(INPP5E):c.1665G>A (p.Thr555=)

SNV
Germline

Chr9:136431002

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA5336703

rs_774331779

2 SubmittersRCV000999289 RCV001362814

NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)

SNV
Germline

Chr12:88053733

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711362

rs_375548374

6 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027 RCV004818114 RCV005012429

NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=)

SNV
Germline

Chr16:53619193

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8057282

rs_750930363

4 SubmittersRCV000999529 RCV003769375 RCV004733106 RCV004818129

NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile)

SNV
Germline

Chr16:53658861

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
RPGRIP1L-related disorder
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

CA8057860

rs_138383101

7 SubmittersRCV000996272 RCV001832313 RCV004536031 RCV005268850 RCV001246734 RCV005012432

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

CA7002154

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

CA388345320

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

CA377189454

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
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375560232

rs_1588830568

4 SubmittersRCV001003058 RCV001376300 RCV002282421 RCV002549199

NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)

SNV
Germline

Chr12:88071848

Pathogenic

Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385984785

rs_1592784618

5 SubmittersRCV001002935 RCV001860525 RCV003890157 RCV004004474 RCV003467562

NM_001384732.1(CPLANE1):c.8663+1G>T

SNV
Germline

Chr5:37139339

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA359506538

rs_1580084520

1 SubmittersRCV001004927

NM_001384732.1(CPLANE1):c.3507+1G>A

SNV
Germline

Chr5:37201590

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA359512725

rs_1580686235

1 SubmittersRCV001004932

NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Joubert syndrome
Nephronophthisis
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

Criteria Provided
Multiple Submitters
No Conflicts

CA385984278

rs_45502896

4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577

NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)

SNV
Germline

Chr16:27573942

Conflicting classifications of pathogenicity

Joubert syndrome 26
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7977182

rs_142375551

8 SubmittersRCV001027977 RCV002069562

NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter)

SNV
Germline

Chr12:110645089

Pathogenic

Joubert syndrome 13

No Assertion Criteria Provided

CA386705891

rs_1593376626

1 SubmittersRCV001029772

NM_025114.4(CEP290):c.297+1G>A

SNV
Germline

Chr12:88139144

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385988563

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

NM_014704.4(CEP104):c.2423G>A (p.Gly808Glu)

SNV
Germline

Chr1:3823504

Conflicting classifications of pathogenicity

Joubert syndrome 25
Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Conflicting Classifications

CA551297

rs_148877817

2 SubmittersRCV001068928 RCV004731086

NM_014704.4(CEP104):c.1588A>G (p.Ile530Val)

SNV
Germline

Chr1:3833933

Conflicting classifications of pathogenicity

Joubert syndrome 25
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA551567

rs_561088543

3 SubmittersRCV001065049 RCV003243461 RCV005418981

NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)

SNV
Germline

Chr2:110123939

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348086119

rs_1311042980

3 SubmittersRCV001059818 RCV002497439 RCV003467802

NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly)

SNV
Germline

Chr2:110148020

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases
Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Conflicting Classifications

CA1827101

rs_375907280

3 SubmittersRCV001042883 RCV003283887 RCV005029600

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

CA348092391

rs_753517219

3 SubmittersRCV001039504 RCV002505566 RCV003461446

NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr4:15528726

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA356410808

rs_1300362447

3 SubmittersRCV001056635 RCV001760005 RCV005029631

NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)

SNV
Germline

Chr4:15537014

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863737

rs_368669579

2 SubmittersRCV001070174 RCV001149505 RCV001149504

NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg)

SNV
Germline

Chr4:15553295

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2863928

rs_201946793

4 SubmittersRCV001062778 RCV004528368 RCV004963078 RCV003159178

NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=)

SNV
Germline

Chr4:15555210

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA2863968

rs_765873247

1 SubmittersRCV001058006

NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr4:15567713

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Neurodevelopmental disorder
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA2864141

rs_760676442

5 SubmittersRCV001041856 RCV001280749 RCV002276597 RCV002489573

NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu)

SNV
Germline

Chr4:15580125

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356426508

rs_1720595936

1 SubmittersRCV001071661

NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)

SNV
Germline

Chr5:37180870

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3238521

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

CA359517713

rs_1359437084

2 SubmittersRCV001050229 RCV002471017

NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val)

SNV
Germline

Chr6:135300507

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4011995

rs_200250333

3 SubmittersRCV001062557 RCV004619504 RCV002505633

NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala)

SNV
Germline

Chr6:135411389

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012239

rs_774471595

3 SubmittersRCV001044262 RCV002553110 RCV005036322

NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)

SNV
Germline

Chr6:135427260

Pathogenic/Likely pathogenic

Joubert syndrome
Retinal dystrophy
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365741327

rs_1355690902

4 SubmittersRCV001064140 RCV001075354 RCV001254914

NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)

SNV
Germline

Chr6:135447145

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012550

rs_553366477

4 SubmittersRCV001051404 RCV002497403 RCV004619491 RCV004731083

NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)

SNV
Germline

Chr6:135457632

Conflicting classifications of pathogenicity

Joubert syndrome
Retinal dystrophy
Inborn genetic diseases
Condition: not provided
not specified
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4012684

rs_201790260

6 SubmittersRCV001063689 RCV001074632 RCV002553946 RCV002511028 RCV003317426 RCV005626321

NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys)

SNV
Germline

Chr6:135463229

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012747

rs_190854744

2 SubmittersRCV001045973 RCV001546265

NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)

SNV
Germline

Chr6:135466135

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA365751692

rs_192524061

4 SubmittersRCV001066257 RCV002067723 RCV004030603 RCV002482100

NM_001134831.2(AHI1):c.279C>T (p.Ser93=)

SNV
Germline

Chr6:135466284

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012858

rs_1205189543

2 SubmittersRCV001054332 RCV002489634

NM_001134831.2(AHI1):c.199A>G (p.Ile67Val)

SNV
Germline

Chr6:135466364

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012876

rs_369012543

3 SubmittersRCV001038507 RCV004973259 RCV005225213

NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter)

SNV
Germline

Chr8:67118300

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4770572

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

CA371186858

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

CA4771023

rs_200546493

4 SubmittersRCV001034776 RCV002552064 RCV003432994

NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly)

SNV
Germline

Chr8:93795949

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
TMEM67-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA4808110

rs_142283122

4 SubmittersRCV001047514 RCV004963030 RCV004733124 RCV005049744

NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)

SNV
Germline

Chr8:93799639

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA4808209

rs_149475825

3 SubmittersRCV001060051 RCV002482047 RCV004800683

NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu)

SNV
Germline

Chr9:136429748

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375560240

rs_1588830568

1 SubmittersRCV001038167

NM_019892.6(INPP5E):c.1796G>A (p.Arg599Gln)

SNV
Germline

Chr9:136430283

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201638261

rs_750836133

2 SubmittersRCV001064506 RCV005243463

NM_019892.6(INPP5E):c.874C>G (p.Arg292Gly)

SNV
Germline

Chr9:136434802

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 1
MORM syndrome
Condition: not provided
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5337047

rs_753742613

4 SubmittersRCV001062720 RCV005047274 RCV004720745 RCV004756164

NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)

SNV
Germline

Chr9:136438951

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 1
Condition: not provided
INPP5E-related disorder
Retinal dystrophy
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5337153

rs_78211353

7 SubmittersRCV001039160 RCV001168667 RCV001556039 RCV004528348 RCV004818204 RCV005394666

NM_016169.4(SUFU):c.664C>G (p.Leu222Val)

SNV
Germline

Chr10:102593702

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5667737

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

CA6034653

rs_141029883

5 SubmittersRCV001039456 RCV001357922 RCV002553058

NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln)

SNV
Germline

Chr12:110632485

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386703104

rs_2066300090

1 SubmittersRCV001035552

NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)

SNV
Germline

Chr12:88055700

Pathogenic/Likely pathogenic

Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385976661

rs_2033943937

3 SubmittersRCV001074527 RCV001063917 RCV005012517

NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)

SNV
Germline

Chr12:88059909

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385977934

rs_2034330893

1 SubmittersRCV001053194

NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)

SNV
Germline

Chr12:88089468

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001282

rs_372640024

1 SubmittersRCV001045344

NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr12:88106887

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Abnormality of prenatal development or birth

Criteria Provided
Multiple Submitters
No Conflicts

CA241149016

rs_903257336

2 SubmittersRCV001046023 RCV001814260

NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712356

rs_199583200

5 SubmittersRCV001057249 RCV001111727 RCV001111724 RCV001111726 RCV001562596 RCV001111723 RCV001111725 RCV001832517 RCV004536115

NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr12:88118567

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385979035

rs_1186821575

3 SubmittersRCV001047416 RCV001832446 RCV003467750

NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr12:88136717

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome 5
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6712821

rs_770126103

7 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003228800 RCV003462577 RCV005253701 RCV005532835

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

CA7206224

rs_776003330

1 SubmittersRCV001060062

NM_015272.5(RPGRIP1L):c.2760C>A (p.Tyr920Ter)

SNV
Germline

Chr16:53641399

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395927337

rs_1966212821

1 SubmittersRCV001035469

NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)

SNV
Germline

Chr16:53648965

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8057588

rs_542206983

3 SubmittersRCV001052996 RCV003323789 RCV005021379

NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter)

SNV
Germline

Chr16:53671561

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395922652

rs_1968731636

1 SubmittersRCV001042321

NM_001077418.3(TMEM231):c.140-30A>C

SNV
Germline

Chr16:75556003

Likely pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Single Submitter

CA396809712

rs_2080806593

1 SubmittersRCV001070947

NM_017777.4(MKS1):c.499C>T (p.Gln167Ter)

SNV
Germline

Chr17:58214757

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400327147

rs_1215189491

2 SubmittersRCV001061747 RCV005021402

NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)

SNV
Germline

Chr17:58214798

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA292013921

rs_903778224

2 SubmittersRCV001040339 RCV003473621

NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)

SNV
Germline

Chr17:58216183

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669566

rs_201476674

6 SubmittersRCV001058713 RCV001827371 RCV002468132 RCV002275203 RCV004031852 RCV004528365

NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)

SNV
Germline

ChrX:13746366

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412337033

rs_2047298129

1 SubmittersRCV001054764

NM_001134831.2(AHI1):c.2623+1G>A

SNV
Germline

Chr6:135428628

Pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012333

rs_751823180

2 SubmittersRCV001045000 RCV005036325

NM_001134831.2(AHI1):c.749+1G>C

SNV
Germline

Chr6:135465813

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365750341

rs_780069818

1 SubmittersRCV001054276

NM_001378615.1(CC2D2A):c.438+1G>A

SNV
Germline

Chr4:15502924

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356408456

rs_1453265480

1 SubmittersRCV001064720

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

CA2056462

rs_80034299

2 SubmittersRCV001043477 RCV003226424

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

SNV
Germline

Chr4:15511246

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356408712

rs_1716552711

1 SubmittersRCV001047515

NM_025114.4(CEP290):c.4030-2A>G

SNV
Germline

Chr12:88087946

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385999375

rs_2036722229

1 SubmittersRCV001041071

NM_001378615.1(CC2D2A):c.3183-1G>T

SNV
Germline

Chr4:15567376

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356417376

rs_1719930798

1 SubmittersRCV001066177

NM_001382391.1(CSPP1):c.1976-2A>G

SNV
Germline

Chr8:67149781

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371185967

rs_1320076769

1 SubmittersRCV001057767

NM_017777.4(MKS1):c.1407+1G>A

SNV
Germline

Chr17:58207084

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400324794

rs_1567795088

1 SubmittersRCV001049916

NM_025114.4(CEP290):c.1712-2A>T

SNV
Germline

Chr12:88117147

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6712483

rs_764551108

1 SubmittersRCV001035038

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712506

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

NM_025114.4(CEP290):c.1189+1G>A

SNV
Germline

Chr12:88125245

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385981026

rs_2039659434

4 SubmittersRCV001063723 RCV001274129 RCV003467821 RCV001814265

NM_001082538.3(TCTN1):c.843+1G>C

SNV
Germline

Chr12:110636502

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386704052

rs_2066579666

1 SubmittersRCV001035553

NM_015272.5(RPGRIP1L):c.3616+1G>A

SNV
Germline

Chr16:53619024

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395923320

rs_1964549409

1 SubmittersRCV001037424

NM_025114.4(CEP290):c.3573+2T>C

SNV
Germline

Chr12:88090726

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001535

rs_1219277452

1 SubmittersRCV001061596

NM_015272.5(RPGRIP1L):c.1244-1G>T

SNV
Germline

Chr16:53658879

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395920644

rs_1306595038

2 SubmittersRCV001058076 RCV002479353

NM_015272.5(RPGRIP1L):c.776+1G>A

SNV
Germline

Chr16:53686432

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8058032

rs_771226563

4 SubmittersRCV001070906 RCV001784626 RCV001828525 RCV002505659

NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter)

SNV
Germline

Chr6:135318581

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA365844346

rs_1487081231

2 SubmittersRCV001075548 RCV001227900

NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)

SNV
Germline

Chr6:135429891

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome 3
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365742550

rs_1784406093

4 SubmittersRCV001075578 RCV002497491 RCV002554762 RCV005328532

NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter)

SNV
Germline

Chr6:135442683

Pathogenic/Likely pathogenic

Retinal dystrophy
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA365744623

rs_781198326

2 SubmittersRCV001075547 RCV001862852

NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys)

SNV
Germline

Chr6:135448433

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA148136846

rs_891261493

3 SubmittersRCV001074158 RCV001862819 RCV005047294

NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro)

SNV
Germline

Chr6:135455777

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome
Condition: not provided
not specified
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012626

rs_771603649

5 SubmittersRCV001073851 RCV001216660 RCV002281158 RCV004526080 RCV005036388

NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)

SNV
Germline

Chr9:136431971

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome
Joubert syndrome 1
Rod-cone dystrophy
Condition: not provided
Joubert syndrome 1
MORM syndrome
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5336803

rs_375909217

7 SubmittersRCV001074129 RCV001320437 RCV001198896 RCV001376361 RCV003329377 RCV005047292 RCV004528376

NM_019892.6(INPP5E):c.1133G>A (p.Arg378His)

SNV
Germline

Chr9:136433181

Conflicting classifications of pathogenicity

Retinal dystrophy
not specified
Joubert syndrome
Joubert syndrome 1
MORM syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5336943

rs_758951947

5 SubmittersRCV001074128 RCV002240581 RCV001862537 RCV005047291 RCV004590089

NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)

SNV
Germline

Chr12:88055644

Pathogenic/Likely pathogenic

Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385976380

rs_2033937635

3 SubmittersRCV001074469 RCV003768995 RCV003469275

NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)

SNV
Germline

Chr12:88079202

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711749

rs_748471942

6 SubmittersRCV001074245 RCV001759855 RCV001234472 RCV003469274 RCV004733151

NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)

SNV
Germline

Chr12:88109135

Pathogenic/Likely pathogenic

Retinal dystrophy
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 4
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6712335

rs_762633090

6 SubmittersRCV001075311 RCV001243657 RCV003331040 RCV001836118 RCV003469278 RCV005540273

NM_025114.4(CEP290):c.6012-12T>A

SNV
Germline

Chr12:88068657

Pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA6711593

rs_752197734

4 SubmittersRCV001073239 RCV003469270 RCV003768988 RCV005253708

NM_025114.4(CEP290):c.5586+1G>C

SNV
Germline

Chr12:88077696

Likely pathogenic

Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385987997

rs_2035880971

2 SubmittersRCV001075437 RCV001862612

NM_025114.4(CEP290):c.4813-4A>G

SNV
Germline

Chr12:88083234

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA916083326

rs_2036324053

3 SubmittersRCV001075281 RCV002069583 RCV004733153

NM_001378615.1(CC2D2A):c.438+1G>T

SNV
Germline

Chr4:15502924

Conflicting classifications of pathogenicity

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA356408458

rs_1453265480

3 SubmittersRCV001089971 RCV001378657

NM_001384732.1(CPLANE1):c.2291+2T>C

SNV
Germline

Chr5:37226302

Pathogenic/Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA359494439

rs_1051234664

2 SubmittersRCV001091482 RCV005047301

NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058869

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
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

CA385977236

rs_2034232539

4 SubmittersRCV001090821 RCV003769016 RCV003469280 RCV005012543

NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)

SNV
Germline

Chr12:88068626

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
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

CA241149784

rs_750073051

4 SubmittersRCV001090822 RCV002554821 RCV003469281 RCV005012544

NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)

SNV
Germline

Chr12:88118673

Pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712521

rs_763559949

3 SubmittersRCV001091340 RCV002555950 RCV003469282

NM_025114.4(CEP290):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712933

rs_368984997

6 SubmittersRCV001091344 RCV002482162 RCV001862693 RCV004536141 RCV004813738

NM_025114.4(CEP290):c.1A>G (p.Met1Val)

SNV
Germline

Chr12:88141307

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA385990599

rs_2040644756

3 SubmittersRCV001091345 RCV002555951 RCV004813739

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

CA261623540

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 and related disorders
Joubert syndrome 20
Meckel syndrome, type 11
Joubert syndrome 20
Orofacial-digital syndrome III

Criteria Provided
Conflicting Classifications

CA396807047

rs_1442638461

6 SubmittersRCV001091760 RCV001266402 RCV002240644 RCV001335605 RCV001382651 RCV003152616

NM_001173990.2(TMEM216):c.-86G>A

SNV
Germline

Chr11:61392546

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222894325

rs_188478638

2 SubmittersRCV001105886 RCV001108138 RCV003393843

NM_001173990.3(TMEM216):c.*303C>T

SNV
Germline

Chr11:61398579

Conflicting classifications of pathogenicity

Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Conflicting Classifications

CA222898941

rs_144613667

1 SubmittersRCV001103024 RCV001103023

NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)

SNV
Germline

Chr12:123696431

Conflicting classifications of pathogenicity

Meckel syndrome, type 8
Joubert syndrome 24
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6861179

rs_543166165

2 SubmittersRCV001110284 RCV001110285 RCV002067801

NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)

SNV
Germline

Chr12:123704581

Conflicting classifications of pathogenicity

Joubert syndrome 24
Meckel syndrome, type 8
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6861295

rs_553095875

3 SubmittersRCV001111038 RCV001111039 RCV005411663 RCV002069789

NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711638

rs_752046733

2 SubmittersRCV001112803 RCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001462557

NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241153115

rs_777353443

2 SubmittersRCV001110127 RCV001110129 RCV001110125 RCV001110126 RCV001110128 RCV002067798

NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA481077013

rs_1159465602

2 SubmittersRCV001113346 RCV001114718 RCV001113347 RCV001114719 RCV001114717 RCV001400067

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712702

rs_200587974

6 SubmittersRCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV004538332 RCV003227912

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
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA481055452

rs_886049885

3 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187 RCV005606766

NM_015272.5(RPGRIP1L):c.*1033G>A

SNV
Germline

Chr16:53601043

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8

Criteria Provided
Conflicting Classifications

CA281347342

rs_145688122

1 SubmittersRCV001118321 RCV001118322 RCV001118320

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

CA281347621

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
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Condition: not provided
RPGRIP1L-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA281358352

rs_973841786

6 SubmittersRCV001116968 RCV001116969 RCV001116970 RCV001856535 RCV002491365 RCV003425936 RCV004733161 RCV004813782

NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)

SNV
Germline

Chr16:53649009

Conflicting classifications of pathogenicity

Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8057593

rs_768672275

2 SubmittersRCV001117156 RCV001117154 RCV001117155 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
Joubert syndrome
Meckel-Gruber syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8058088

rs_368728064

4 SubmittersRCV001120945 RCV001120946 RCV001120947 RCV001409417 RCV001700699 RCV001702084

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA1139664700

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
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 27
B9D1-related disorder

Criteria Provided
Conflicting Classifications

CA8440071

rs_147684440

5 SubmittersRCV001123362 RCV001458992 RCV002226757 RCV004555614

NM_015681.6(B9D1):c.9C>G (p.Thr3=)

SNV
Germline

Chr17:19362561

Conflicting classifications of pathogenicity

Meckel syndrome, type 9
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA498585029

rs_749611797

2 SubmittersRCV001124460 RCV002070027

NM_017777.4(MKS1):c.498G>T (p.Arg166=)

SNV
Germline

Chr17:58214758

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669503

rs_778956664

2 SubmittersRCV001122699 RCV001122698 RCV001477638

NM_017777.4(MKS1):c.1408-15A>G

SNV
Germline

Chr17:58206562

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669135

rs_762989365

3 SubmittersRCV001128315 RCV001128314 RCV001457699 RCV005021471

NM_017777.4(MKS1):c.1273+12T>A

SNV
Germline

Chr17:58207882

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669212

rs_762439479

2 SubmittersRCV001122599 RCV001122600 RCV002070000

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

CA53520166

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

CA1827461

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

CA1826924

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

CA1827251

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

CA63949530

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

CA63949534

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

CA2056483

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

CA92510808

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
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2863354

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863443

rs_200044412

2 SubmittersRCV001149407 RCV001149408 RCV002070813

NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr4:15537042

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863744

rs_543650388

5 SubmittersRCV001145127 RCV001145126 RCV002032368 RCV002557107 RCV005029722 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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863951

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863551

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

CA443921745

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

CA3237633

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

CA3237748

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

CA3238340

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
Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA3238629

rs_536461045

4 SubmittersRCV001158023 RCV003718370 RCV002497586

NM_001384732.1(CPLANE1):c.4248G>A (p.Val1416=)

SNV
Germline

Chr5:37185021

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3238736

rs_758567108

3 SubmittersRCV001153834 RCV003727919 RCV005036426

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

CA3238867

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

CA3238948

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
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012052

rs_756637497

2 SubmittersRCV001151589 RCV003769723

NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)

SNV
Germline

Chr6:135428685

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012340

rs_199736888

4 SubmittersRCV001157116 RCV001206691

NM_001134831.2(AHI1):c.459A>C (p.Thr153=)

SNV
Germline

Chr6:135466104

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012826

rs_531024131

2 SubmittersRCV001151770 RCV001516742

NM_001134831.2(AHI1):c.2962-13G>A

SNV
Germline

Chr6:135404990

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA148542864

rs_927158679

2 SubmittersRCV001154604 RCV002070893

NM_001134831.2(AHI1):c.189+12T>C

SNV
Germline

Chr6:135467569

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012899

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

CA4485227

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

CA166903208

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA181346269

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
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336681

rs_760729838

2 SubmittersRCV002067815 RCV001166876

NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)

SNV
Germline

Chr9:136431980

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome
not specified
Rod-cone dystrophy
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336804

rs_750331066

5 SubmittersRCV001168596 RCV001238911 RCV003387968 RCV001376392 RCV005039993

NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)

SNV
Germline

Chr9:136433240

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5336956

rs_746782404

3 SubmittersRCV001166422 RCV002067810 RCV004756185

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA4808422

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
Joubert syndrome
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5336990

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
Joubert syndrome 9
Condition: not provided
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA356433780

rs_1721483506

5 SubmittersRCV001175193 RCV004527415 RCV003142100 RCV005225258

NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)

SNV
Germline

Chr8:93758576

Likely pathogenic

Joubert syndrome 6

No Assertion Criteria Provided

CA371685957

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

CA387148725

rs_1956235509

1 SubmittersRCV001175225 RCV003987793

NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)

SNV
Germline

Chr14:44963523

Pathogenic

Joubert syndrome
Joubert syndrome 37

Criteria Provided
Single Submitter

CA389573398

rs_368448387

4 SubmittersRCV001175207 RCV001293025

NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)

SNV
Germline

Chr17:58216138

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8669557

rs_762482919

7 SubmittersRCV001175216 RCV003473720 RCV001389263 RCV004720777 RCV004733171 RCV005021483

NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter)

SNV
Germline

Chr16:27721624

Likely pathogenic

Joubert syndrome 26

No Assertion Criteria Provided

CA7977774

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

CA356418506

rs_1719092280

1 SubmittersRCV001175194 RCV004032983

NM_001134831.2(AHI1):c.2037-1G>C

SNV
Germline

Chr6:135433257

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA365743853

rs_1784918128

1 SubmittersRCV001175180

NM_016464.5(TMEM138):c.377-3C>G

SNV
Germline

Chr11:61368594

Pathogenic

Joubert syndrome 16

No Assertion Criteria Provided

CA1139661979

rs_774110963

1 SubmittersRCV001175226

NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)

SNV
Germline

Chr8:93754957

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA4807502

rs_748221725

3 SubmittersRCV001193312 RCV002561008 RCV002480641

NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)

SNV
Unknown

Chr9:136429713

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA375560068

rs_763184652

1 SubmittersRCV001197573

NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)

SNV
Germline

Chr12:123690629

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 8
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA6861058

rs_754596743

3 SubmittersRCV002559269 RCV001198916 RCV002504226

NM_001329943.3(KIAA0586):c.1629G>A (p.Trp543Ter)

SNV
Unknown

Chr14:58458518

Pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

CA389869394

rs_2040056901

1 SubmittersRCV001196759

NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)

SNV
Germline

Chr16:53645748

Pathogenic/Likely pathogenic

Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281339134

rs_770291169

2 SubmittersRCV001199009 RCV001863136

NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr16:53652883

Pathogenic/Likely pathogenic

Joubert syndrome 7
Joubert syndrome and related disorders
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8057699

rs_745413543

4 SubmittersRCV001199008 RCV002509625 RCV001241219 RCV005012592

NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)

SNV
Germline

Chr16:53686458

Pathogenic/Likely pathogenic

Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
RPGRIP1L-related disorder
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA281371218

rs_993394322

5 SubmittersRCV001198756 RCV001225531 RCV002265959 RCV004538435 RCV005021492

NM_001384732.1(CPLANE1):c.8633-3T>A

SNV
Germline

Chr5:37139373

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA1139658802

rs_1561376157

2 SubmittersRCV001196216 RCV003493815

NM_019892.6(INPP5E):c.1666-12A>G

SNV
Germline

Chr9:136430425

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA5336685

rs_372545147

3 SubmittersRCV001198895 RCV001876283

NM_025114.4(CEP290):c.6012-2A>G

SNV
Germline

Chr12:88068647

Pathogenic

Joubert syndrome 5
Leber congenital amaurosis
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241149791

rs_555755221

4 SubmittersRCV001198220 RCV001828613 RCV001211579 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

CA83584647

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

CA4485403

rs_184146463

2 SubmittersRCV001222269 RCV002562551

NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)

SNV
Germline

Chr8:67112065

Pathogenic

Inborn genetic diseases
Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA4770471

rs_760205035

2 SubmittersRCV005540318 RCV001221087

NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)

SNV
Germline

Chr12:88089250

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000654

rs_1412133967

10 SubmittersRCV001222226 RCV001529282 RCV001828771 RCV004813908 RCV004546619 RCV002283532

NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter)

SNV
Germline

Chr16:53692285

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA8058135

rs_547189939

1 SubmittersRCV001221261

NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)

SNV
Germline

Chr17:58207945

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8669228

rs_781423785

3 SubmittersRCV001219659 RCV002497749 RCV003473772

NM_001174150.2(ARL13B):c.1070A>G (p.His357Arg)

SNV
Germline

Chr3:94049451

Conflicting classifications of pathogenicity

Joubert syndrome 8
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2504251

rs_150821066

4 SubmittersRCV001208535 RCV002561690 RCV004695171

NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln)

SNV
Germline

Chr4:15510218

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863422

rs_745699870

2 SubmittersRCV001205257 RCV002561177

NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)

SNV
Germline

Chr4:15557452

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2864003

rs_200707391

3 SubmittersRCV001207137 RCV002251560 RCV005029754

NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)

SNV
Germline

Chr6:135466079

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome 3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365751567

rs_1270654737

4 SubmittersRCV001204778 RCV003492229 RCV002491618 RCV004813856

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

CA4485402

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

CA371211140

rs_1201375699

1 SubmittersRCV001206028

NM_019892.6(INPP5E):c.1790C>T (p.Pro597Leu)

SNV
Germline

Chr9:136430289

Conflicting classifications of pathogenicity

Joubert syndrome
MORM syndrome
Joubert syndrome 1
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5336667

rs_760790290

3 SubmittersRCV001206711 RCV005040014 RCV004756188

NM_019892.6(INPP5E):c.1747G>A (p.Asp583Asn)

SNV
Germline

Chr9:136430332

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336671

rs_756888841

3 SubmittersRCV001206710 RCV001265717 RCV005049787

NM_019892.6(INPP5E):c.1107C>T (p.Gly369=)

SNV
Germline

Chr9:136433207

Conflicting classifications of pathogenicity

Joubert syndrome
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336948

rs_374718674

2 SubmittersRCV001213105 RCV005040025

NM_024809.5(TCTN2):c.72G>A (p.Trp24Ter)

SNV
Germline

Chr12:123671312

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA387154925

rs_1955746650

1 SubmittersRCV001207165

NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)

SNV
Germline

Chr12:88090781

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386001942

rs_2036974151

1 SubmittersRCV001204615

NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)

SNV
Germline

Chr12:88117104

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385978257

rs_867094910

2 SubmittersRCV001203138 RCV004570424

NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)

SNV
Germline

Chr12:88136746

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385987649

rs_2040373653

1 SubmittersRCV001202458

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

CA389862734

rs_376338487

1 SubmittersRCV001210014

NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter)

SNV
Germline

Chr14:58459894

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

CA389870606

rs_2040187420

1 SubmittersRCV001201794

NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp)

SNV
Germline

Chr16:53649088

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA281341913

rs_546150528

1 SubmittersRCV001207419

NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg)

SNV
Germline

Chr16:53656522

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA8057744

rs_772900011

1 SubmittersRCV001213020

NM_017777.4(MKS1):c.124C>T (p.Gln42Ter)

SNV
Germline

Chr17:58218686

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA400327995

rs_1969405671

1 SubmittersRCV001203927

NM_001128178.3(NPHP1):c.771+169G>T

SNV
Germline

Chr2:110164519

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Joubert syndrome and related disorders
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827253

rs_150520157

5 SubmittersRCV001203841 RCV001535975 RCV003462683 RCV003226442 RCV004734043

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

CA2056574

rs_778823927

2 SubmittersRCV001202447 RCV003413989

NM_001378615.1(CC2D2A):c.247+1G>A

SNV
Germline

Chr4:15480828

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356407827

rs_765072583

1 SubmittersRCV001205546

NM_025114.4(CEP290):c.5709+1G>A

SNV
Germline

Chr12:88077221

Pathogenic

Leber congenital amaurosis
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA6711675

rs_759850328

2 SubmittersRCV001833851 RCV001211207

NM_001082538.3(TCTN1):c.713-2A>G

SNV
Germline

Chr12:110634668

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA386703709

rs_2066444872

2 SubmittersRCV001219098 RCV001586064

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

CA552018

rs_199576006

4 SubmittersRCV001225877 RCV002563087 RCV003456479

NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:201643400

Conflicting classifications of pathogenicity

Joubert syndrome 14
not specified

Criteria Provided
Conflicting Classifications

CA63963870

rs_957203033

3 SubmittersRCV001230848 RCV002241358

NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)

SNV
Germline

Chr8:67103053

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4770396

rs_774703929

1 SubmittersRCV001232522

NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg)

SNV
Germline

Chr9:136431052

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA201638643

rs_375126841

3 SubmittersRCV001226706 RCV003132298 RCV004757384

NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)

SNV
Germline

Chr12:88090787

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386001998

rs_2036975289

1 SubmittersRCV001232419

NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386006028

rs_886042467

2 SubmittersRCV001237935 RCV002504334

NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr12:88120246

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385980173

rs_1437841365

2 SubmittersRCV001230980 RCV003469413

NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)

SNV
Germline

Chr16:53637794

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395926336

rs_1456208953

3 SubmittersRCV001231979 RCV004538486 RCV002497792

NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter)

SNV
Germline

Chr16:53652583

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395916634

rs_199975230

1 SubmittersRCV001226253

NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)

SNV
Germline

Chr16:53652888

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395917292

rs_1966902456

2 SubmittersRCV001231692 RCV002504314

NM_015272.5(RPGRIP1L):c.745C>T (p.Gln249Ter)

SNV
Germline

Chr16:53686464

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395923794

rs_1970021137

1 SubmittersRCV001225530

NM_017777.4(MKS1):c.79C>T (p.Arg27Ter)

SNV
Germline

Chr17:58219152

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400328102

rs_1161451203

1 SubmittersRCV001228561

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
Ciliopathy

Criteria Provided
Conflicting Classifications

CA551385

rs_144805659

6 SubmittersRCV001246075 RCV001569592 RCV002568645 RCV005367790

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

CA551764

rs_140022279

2 SubmittersRCV001240356 RCV004034648

NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)

SNV
Germline

Chr4:15480729

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863292

rs_765810643

2 SubmittersRCV001240421 RCV005029819

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

CA3387050

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
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3239041

rs_192335673

3 SubmittersRCV001246615 RCV002491834

NM_019892.6(INPP5E):c.844G>A (p.Gly282Arg)

SNV
Germline

Chr9:136434832

Conflicting classifications of pathogenicity

Joubert syndrome
INPP5E-related disorder
Joubert syndrome 1
MORM syndrome

Criteria Provided
Conflicting Classifications

CA5337054

rs_138068434

3 SubmittersRCV001242650 RCV004756197 RCV005040083

NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711377

rs_200969981

10 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004577955 RCV004538510 RCV004609704 RCV004813996

NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711621

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV002499432 RCV001835317 RCV003887972 RCV004538524

NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)

SNV
Germline

Chr12:88121121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712594

rs_189280108

6 SubmittersRCV001244829 RCV002504354 RCV001835216 RCV004538514 RCV004978200 RCV004720814

NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val)

SNV
Germline

Chr16:53700650

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
RPGRIP1L-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8058230

rs_143515432

5 SubmittersRCV001240153 RCV001277875 RCV003442801 RCV004733203 RCV002567944

NM_001378615.1(CC2D2A):c.4066-1G>A

SNV
Germline

Chr4:15587815

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA92526480

rs_867390302

1 SubmittersRCV001231205

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

SNV
Germline

Chr7:130402801

Pathogenic

Joubert syndrome 15
Condition: not provided
CEP41-related disorder

Criteria Provided
Single Submitter

CA369289006

rs_781815473

4 SubmittersRCV001227158 RCV001573669 RCV004757385

NM_001382391.1(CSPP1):c.3331-2A>G

SNV
Germline

Chr8:67193462

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371202812

rs_1836992042

1 SubmittersRCV001231245

NM_001173990.3(TMEM216):c.230-2A>G

SNV
Germline

Chr11:61397772

Likely pathogenic

Joubert syndrome
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA380685752

rs_1211592806

2 SubmittersRCV001235530 RCV002480768

NM_025114.4(CEP290):c.942+1G>C

SNV
Germline

Chr12:88128945

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385983525

rs_2039897317

2 SubmittersRCV001230885 RCV003469412

NM_025114.4(CEP290):c.251-2A>G

SNV
Germline

Chr12:88139193

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA241166997

rs_951979448

1 SubmittersRCV001237836

NM_001077418.3(TMEM231):c.438+5G>C

SNV
Germline

Chr16:75545821

Conflicting classifications of pathogenicity

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Conflicting Classifications

CA623583503

rs_1472951348

2 SubmittersRCV001247446

NM_017777.4(MKS1):c.959-2A>G

SNV
Germline

Chr17:58210726

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400326088

rs_1273591389

2 SubmittersRCV001239076 RCV005014292

NM_153704.6(TMEM67):c.1322G>A (p.Arg441His)

SNV
Germline

Chr8:93786256

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA4807931

rs_386834183

4 SubmittersRCV001248780 RCV001310634 RCV003120506 RCV005040098

NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)

SNV
Germline

Chr6:135457497

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA365747470

rs_1789162289

1 SubmittersRCV001250414

NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)

SNV
Germline

Chr6:135433027

Conflicting classifications of pathogenicity

Joubert syndrome 3
Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012414

rs_376754552

4 SubmittersRCV001252131 RCV004774362 RCV002570490

NM_003611.3(OFD1):c.2387+1G>A

SNV
Germline

ChrX:13761212

Likely pathogenic

Joubert syndrome 10

No Assertion Criteria Provided

CA412345143

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

CA359516015

rs_1799919744

1 SubmittersRCV001254121

NM_025114.4(CEP290):c.6135+1G>A

SNV
Germline

Chr12:88068521

Pathogenic

Joubert syndrome 5
Intellectual disability

Criteria Provided
Single Submitter

CA385981830

rs_2035114607

1 SubmittersRCV001262195 RCV001255342

NM_003611.3(OFD1):c.599T>C (p.Leu200Pro)

SNV
Not applicable

ChrX:13746400

Pathogenic

Joubert syndrome 10

Criteria Provided
Single Submitter

CA412337274

rs_2047299277

1 SubmittersRCV001255998

NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)

SNV
Germline

ChrX:13767196

Conflicting classifications of pathogenicity

Rare genetic intellectual disability
Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I
not specified

Criteria Provided
Conflicting Classifications

CA10352061

rs_748643730

4 SubmittersRCV001257024 RCV004035368 RCV003770338 RCV004800761

NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)

SNV
Germline

Chr4:15537063

Pathogenic

Encephalocele
Polycystic kidney disease
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA92530795

rs_980305935

3 SubmittersRCV001257355 RCV001879968 RCV005029847

NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter)

SNV
Germline

Chr4:15567681

Pathogenic

Encephalocele
Polycystic kidney disease
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356418538

rs_1719950579

2 SubmittersRCV001257356 RCV003770343

NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)

SNV
Germline

Chr12:88079127

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Severe hydrocephalus
Encephalocele
Polycystic kidney disease
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711738

rs_774410421

4 SubmittersRCV001382992 RCV001257363 RCV005012700 RCV004570649

NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr14:44963505

Pathogenic

Joubert syndrome
Joubert syndrome 37

Criteria Provided
Single Submitter

CA389573230

rs_1885329722

3 SubmittersRCV001257978 RCV001293023

NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)

SNV
Germline

Chr14:44963533

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7167012

rs_370676288

4 SubmittersRCV001258005 RCV002255178

NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)

SNV
Germline

Chr14:44963545

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Joubert syndrome 37

Criteria Provided
Conflicting Classifications

CA7167015

rs_150433582

4 SubmittersRCV001257976 RCV001776163 RCV001293021

NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)

SNV
Germline

Chr14:45025792

Pathogenic

Joubert syndrome
Joubert syndrome 37

Criteria Provided
Single Submitter

CA389572702

rs_1463041654

3 SubmittersRCV001258004 RCV001293026

NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)

SNV
Germline

Chr14:45044647

Pathogenic

Joubert syndrome
Joubert syndrome 37

Criteria Provided
Single Submitter

CA7167657

rs_759684383

3 SubmittersRCV001257977 RCV001293022

NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)

SNV
Germline

Chr14:45073421

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 37

Criteria Provided
Conflicting Classifications

CA7167930

rs_745704336

4 SubmittersRCV001258006 RCV004762031

NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)

SNV
Germline

Chr4:15557406

Pathogenic

Meckel syndrome, type 6
Condition: not provided
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2863997

rs_781206278

5 SubmittersRCV001261566 RCV001558265 RCV004814036 RCV001880021

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

CA356428250

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

CA356433912

rs_1577406415

4 SubmittersRCV001261606 RCV004527417

NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome 5

Criteria Provided
Single Submitter

CA385994093

rs_1292516576

1 SubmittersRCV001261608 RCV001261602

NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)

SNV
Germline

Chr4:15557481

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2864005

rs_563610095

4 SubmittersRCV001880034 RCV002499450 RCV002541585 RCV005432641

NM_025114.4(CEP290):c.6271-1G>A

SNV
Germline

Chr12:88062779

Likely pathogenic

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2034579709

1 SubmittersRCV005012702

NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)

SNV
Germline

Chr12:88089214

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000583

rs_2036824785

5 SubmittersRCV001390760 RCV004796396 RCV005005128 RCV003120515 RCV003469489

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

CA1139660660

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
Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA412344682

rs_1260959326

3 SubmittersRCV001262142 RCV003770364 RCV005040107

NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)

SNV
Germline

Chr11:125097716

Likely pathogenic

Meckel syndrome, type 4
Joubert syndrome
Joubert syndrome 39

Criteria Provided
Single Submitter

CA6347295

rs_141744337

3 SubmittersRCV001263493 RCV001263490 RCV001729826

NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)

SNV
Germline

Chr11:125102216

Pathogenic

Joubert syndrome
Joubert syndrome 39

No Assertion Criteria Provided

CA383169836

rs_1950967763

2 SubmittersRCV001263491 RCV001729827

NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)

SNV
Germline

Chr6:135442666

Pathogenic

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4012501

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

CA389874907

rs_2040876556

2 SubmittersRCV001264820 RCV002508302

NM_019892.6(INPP5E):c.1687C>T (p.Arg563Cys)

SNV
Germline

Chr9:136430392

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome
MORM syndrome

Criteria Provided
Conflicting Classifications

CA5336680

rs_371960390

3 SubmittersRCV001265715 RCV001880095 RCV005253776

NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=)

SNV
Germline

Chr5:37165539

Likely pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA3238047

rs_753791198

1 SubmittersRCV001267675

NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His)

SNV
Germline

Chr4:15580047

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2864244

rs_754586025

2 SubmittersRCV002537713 RCV003323840

NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)

SNV
Germline

Chr6:135433047

Pathogenic

Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA148122329

rs_766069291

2 SubmittersRCV001328118 RCV002537719

NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)

SNV
Germline

Chr12:88117110

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA385978293

rs_1459958084

3 SubmittersRCV001279555 RCV002493497 RCV005318701

NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser)

SNV
Germline

Chr16:53652565

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057635

rs_565152814

4 SubmittersRCV001279159 RCV002541701 RCV005012711 RCV005470708

NM_001244189.2(KIAA0586):c.9+1G>A

SNV
Germline

Chr14:58427638

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA389858843

rs_1490434047

4 SubmittersRCV001280787 RCV001871620

NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385994080

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

CA259611914

rs_370236552

1 SubmittersRCV001293027

NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)

SNV
Germline

Chr8:93763910

Conflicting classifications of pathogenicity

Joubert syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4807657

rs_775716868

4 SubmittersRCV001293702 RCV003770476 RCV004690066

NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter)

SNV
Germline

Chr13:72835358

Likely pathogenic

Joubert syndrome 33

Criteria Provided
Single Submitter

CA7002169

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

CA353679432

rs_2077033566

2 SubmittersRCV001295428 RCV002538450

NM_001384732.1(CPLANE1):c.1191G>A (p.Met397Ile)

SNV
Germline

Chr5:37227748

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA3239122

rs_573982253

2 SubmittersRCV001303421 RCV005040147

NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala)

SNV
Germline

Chr6:135428704

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Inborn genetic diseases
See cases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012344

rs_779509262

5 SubmittersRCV001306007 RCV002255179 RCV002543146 RCV003232295 RCV005040158

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
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

CA7205675

rs_61745095

3 SubmittersRCV001306975 RCV002545002 RCV004749650

NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)

SNV
Germline

Chr16:75555866

Likely pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Multiple Submitters
No Conflicts

CA8176252

rs_774091057

2 SubmittersRCV001301852

NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr)

SNV
Germline

Chr4:15601259

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864460

rs_762773515

3 SubmittersRCV001312038 RCV004034246 RCV002543588

NM_001378615.1(CC2D2A):c.1895A>C (p.Gln632Pro)

SNV
Germline

Chr4:15538029

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863791

rs_777510836

2 SubmittersRCV001316816 RCV005306397

NM_001384732.1(CPLANE1):c.6446G>A (p.Ser2149Asn)

SNV
Germline

Chr5:37170057

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3238261

rs_765250980

4 SubmittersRCV001314015 RCV005038060 RCV004034304

NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp)

SNV
Germline

Chr5:37170194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3238287

rs_749862200

3 SubmittersRCV001322567 RCV002493687 RCV004035075

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

CA3239121

rs_189796608

5 SubmittersRCV001316335 RCV002493652

NM_001134831.2(AHI1):c.395C>T (p.Thr132Met)

SNV
Germline

Chr6:135466168

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012839

rs_756217962

2 SubmittersRCV001324809 RCV005038079

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

CA4770854

rs_376353407

2 SubmittersRCV001324953 RCV004035146

NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu)

SNV
Germline

Chr9:136433241

Conflicting classifications of pathogenicity

Joubert syndrome
not specified
Joubert syndrome 1
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA375564463

rs_1835755632

4 SubmittersRCV001327708 RCV004690080 RCV004719040 RCV005040190

NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala)

SNV
Germline

Chr14:58487925

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7206140

rs_773967297

2 SubmittersRCV001323220 RCV004987076

NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)

SNV
Germline

Chr16:75542603

Conflicting classifications of pathogenicity

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Conflicting Classifications

CA8176101

rs_776287219

2 SubmittersRCV001313791

NM_017777.4(MKS1):c.308T>C (p.Leu103Ser)

SNV
Germline

Chr17:58216197

Conflicting classifications of pathogenicity

Spastic ataxia
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669568

rs_201574278

2 SubmittersRCV001647188 RCV002546245

NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr1:3837408

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome and related disorders
Joubert syndrome 25

Criteria Provided
Conflicting Classifications

CA551754

rs_144744629

4 SubmittersRCV001765362 RCV003155427 RCV001868445

NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)

SNV
Germline

Chr2:110131733

Pathogenic

Joubert syndrome with renal defect
Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
NPHP1-related disorder
Nephronophthisis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1826966

rs_547352656

5 SubmittersRCV001332330 RCV001382647 RCV001536104 RCV004734126 RCV004594273

NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)

SNV
Germline

Chr5:37121756

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3237577

rs_150242262

4 SubmittersRCV001332491 RCV002286840 RCV002504519 RCV004609773

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

CA3238083

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

CA365743125

rs_863225146

2 SubmittersRCV001330966

NM_018718.3(CEP41):c.34-2A>G

SNV
Unknown

Chr7:130428020

Pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

CA369287584

rs_1797714974

1 SubmittersRCV001331069

NM_025114.4(CEP290):c.2217+2T>C

SNV
Germline

Chr12:88111692

Likely pathogenic

Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385974764

rs_2038702746

2 SubmittersRCV001330036 RCV001863212

NM_001329943.3(KIAA0586):c.4324-1G>A

SNV
Germline

Chr14:58512521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7206372

rs_753649082

4 SubmittersRCV001333030 RCV002462940 RCV004820876 RCV005225383

NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter)

SNV
Germline

Chr16:27681512

Likely pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

CA279756568

rs_145247651

1 SubmittersRCV003226808

NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)

SNV
Germline

Chr16:53649029

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057595

rs_767686118

3 SubmittersRCV001975234 RCV002469441 RCV002479591

NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)

SNV
Germline

Chr16:75555865

Pathogenic/Likely pathogenic

Joubert syndrome 20
Joubert syndrome and related disorders
Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA396808998

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

CA350317698

rs_1378726802

5 SubmittersRCV001335600 RCV003329402

NM_001352754.2(ARMC9):c.100G>T (p.Glu34Ter)

SNV
Germline

Chr2:231208175

Pathogenic

Joubert syndrome 30

Criteria Provided
Single Submitter

CA350944300

rs_1330612935

1 SubmittersRCV001336697

NM_001378615.1(CC2D2A):c.3015-9A>C

SNV
Germline

Chr4:15563346

Conflicting classifications of pathogenicity

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA92513467

rs_1010285962

3 SubmittersRCV001334752 RCV002070189 RCV005023059

NM_001378615.1(CC2D2A):c.4314+12C>T

SNV
Germline

Chr4:15589691

Conflicting classifications of pathogenicity

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864367

rs_775304664

2 SubmittersRCV001334754 RCV002070190

NM_024809.5(TCTN2):c.1612+1G>A

SNV
Germline

Chr12:123699811

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Multiple Submitters
No Conflicts

CA6861269

rs_371537478

2 SubmittersRCV002028164 RCV005008356

NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter)

SNV
Germline

Chr12:88089127

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA6712056

rs_774705706

1 SubmittersRCV001387506

NM_015272.5(RPGRIP1L):c.3220+17A>C

SNV
Germline

Chr16:53637678

Conflicting classifications of pathogenicity

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA721639044

rs_1204073957

2 SubmittersRCV001334833 RCV002070192

NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)

SNV
Germline

Chr2:201636873

Conflicting classifications of pathogenicity

Joubert syndrome 14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA350316042

rs_1269827788

3 SubmittersRCV001342106 RCV004686663

NM_001174150.2(ARL13B):c.60A>G (p.Arg20=)

SNV
Germline

Chr3:93995874

Conflicting classifications of pathogenicity

Joubert syndrome 8

Criteria Provided
Conflicting Classifications

CA2503753

rs_765240700

2 SubmittersRCV001337360

NM_001378615.1(CC2D2A):c.2441T>C (p.Ile814Thr)

SNV
Germline

Chr4:15553260

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863921

rs_369305472

2 SubmittersRCV001340454 RCV002546897

NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro)

SNV
Germline

Chr4:15599684

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA2864430

rs_763425007

1 SubmittersRCV001337954

NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln)

SNV
Germline

Chr5:37227668

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3239116

rs_369204500

4 SubmittersRCV001351693 RCV002504564 RCV004611780

NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)

SNV
Germline

Chr6:135411436

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012249

rs_201771478

4 SubmittersRCV001342169 RCV002493753 RCV003319466 RCV004035984

NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys)

SNV
Germline

Chr6:135411515

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012262

rs_370101143

4 SubmittersRCV001357865 RCV001348147 RCV004036541 RCV005038109

NM_001134831.2(AHI1):c.2209G>A (p.Val737Ile)

SNV
Germline

Chr6:135433084

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365743477

rs_1227775795

2 SubmittersRCV001340443 RCV003246905

NM_019892.6(INPP5E):c.1052G>A (p.Arg351His)

SNV
Germline

Chr9:136433262

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA5336960

rs_775094328

1 SubmittersRCV001341624

NM_153704.6(TMEM67):c.651+5G>A

SNV
Germline

Chr8:93765651

Conflicting classifications of pathogenicity

not specified
6 conditions
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA181312007

rs_970248353

3 SubmittersRCV001358730 RCV005040212 RCV002547699

NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln)

SNV
Germline

Chr4:15527565

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2863623

rs_780924556

2 SubmittersRCV001367647 RCV005023099

NM_001378615.1(CC2D2A):c.1858A>G (p.Ser620Gly)

SNV
Germline

Chr4:15537992

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863784

rs_760215716

2 SubmittersRCV001371759 RCV004601484

NM_001134831.2(AHI1):c.1045A>G (p.Ile349Val)

SNV
Germline

Chr6:135457600

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012680

rs_748804342

2 SubmittersRCV001366016 RCV002550058

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

CA4770399

rs_775759544

3 SubmittersRCV001369958 RCV002548633

NM_025114.4(CEP290):c.3310-5C>A

SNV
Germline

Chr12:88092837

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499221894

rs_2137345196

2 SubmittersRCV001361154 RCV001762620

NM_001134831.2(AHI1):c.2492+5G>A

SNV
Germline

Chr6:135429877

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA2499218110

rs_2128012406

1 SubmittersRCV001726494

NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)

SNV
Germline

Chr17:19347784

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome 27
Condition: not provided
B9D1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8440265

rs_778260923

6 SubmittersRCV001871960 RCV003230666 RCV001726509 RCV003234061 RCV004734157

NM_153704.6(TMEM67):c.230C>A (p.Ser77Ter)

SNV
Germline

Chr8:93755784

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA371685532

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
Joubert syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4012062

rs_761732432

4 SubmittersRCV001376376 RCV002550234 RCV002493913 RCV005256786

NM_019892.6(INPP5E):c.1670G>A (p.Arg557His)

SNV
Germline

Chr9:136430409

Likely pathogenic

Joubert syndrome
MORM syndrome
Joubert syndrome 1
Rod-cone dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA201638363

rs_992814593

3 SubmittersRCV001871983 RCV005050361 RCV001376234

NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)

SNV
Germline

Chr9:136438674

Conflicting classifications of pathogenicity

Rod-cone dystrophy
INPP5E-related disorder
Condition: not provided
Retinal dystrophy
Joubert syndrome
Joubert syndrome 1
Inborn genetic diseases
not specified
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5337089

rs_550485638

9 SubmittersRCV001376540 RCV004756227 RCV004697127 RCV004815503 RCV001871993 RCV003147627 RCV002550959 RCV003226465 RCV005040233

NM_001174150.2(ARL13B):c.689+2T>G

SNV
Germline

Chr3:94036756

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

CA2504118

rs_761785586

1 SubmittersRCV001379589

NM_001378615.1(CC2D2A):c.248-1G>A

SNV
Germline

Chr4:15502428

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356408039

rs_2108998253

1 SubmittersRCV001378848

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

SNV
Germline

Chr4:15511424

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA92510055

rs_1027674181

1 SubmittersRCV001379977

NM_001384732.1(CPLANE1):c.4482-1G>T

SNV
Germline

Chr5:37183700

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238684

rs_774492992

3 SubmittersRCV001377872 RCV003399194

NM_001134831.2(AHI1):c.2623+2T>A

SNV
Germline

Chr6:135428627

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365741981

rs_2128009190

1 SubmittersRCV001379984

NM_001134831.2(AHI1):c.1151+1G>A

SNV
Germline

Chr6:135457493

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365747447

rs_2128081334

1 SubmittersRCV001377083

NM_001382391.1(CSPP1):c.2128+1G>A

SNV
Germline

Chr8:67149936

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4770739

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

CA371187577

rs_2129559034

1 SubmittersRCV001377434

NM_019892.6(INPP5E):c.1312G>A (p.Asp438Asn)

SNV
Germline

Chr9:136432554

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375563549

rs_1835733198

1 SubmittersRCV001379011

NM_001173990.3(TMEM216):c.137-2A>G

SNV
Germline

Chr11:61393882

Likely pathogenic

Joubert syndrome 2
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA380685014

rs_1858735439

2 SubmittersRCV004570922 RCV001377336

NM_025114.4(CEP290):c.6357+1G>A

SNV
Germline

Chr12:88062691

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385979054

rs_1196938557

2 SubmittersRCV001378757 RCV005005228

NM_025114.4(CEP290):c.5586+1G>T

SNV
Germline

Chr12:88077696

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987996

rs_2035880971

2 SubmittersRCV001377792 RCV005005225

NM_025114.4(CEP290):c.3309+2T>C

SNV
Germline

Chr12:88093768

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241168580

rs_1007902545

2 SubmittersRCV001379336 RCV003469638

NM_025114.4(CEP290):c.943-1G>C

SNV
Germline

Chr12:88126439

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385983224

rs_2138025029

1 SubmittersRCV001378660

NM_015272.5(RPGRIP1L):c.3295-2A>G

SNV
Germline

Chr16:53622358

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA395924229

rs_1258182460

3 SubmittersRCV001751748 RCV001378533 RCV005005906

NM_015272.5(RPGRIP1L):c.632+1G>A

SNV
Germline

Chr16:53687862

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395924361

rs_1376397728

2 SubmittersRCV001378777 RCV005014517

NM_015272.5(RPGRIP1L):c.530-1G>C

SNV
Germline

Chr16:53687966

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395924597

rs_2151325787

2 SubmittersRCV001376781 RCV002471102

NM_017777.4(MKS1):c.1273+1G>C

SNV
Germline

Chr17:58207893

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA292008596

rs_933577333

5 SubmittersRCV001377156 RCV002504627 RCV003225970 RCV001548771 RCV004570921

NM_017777.4(MKS1):c.1166-1G>C

SNV
Germline

Chr17:58208002

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA8669236

rs_776174898

1 SubmittersRCV001378613

NM_017777.4(MKS1):c.1095+1G>A

SNV
Germline

Chr17:58208512

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA8669289

rs_747740477

2 SubmittersRCV001377617 RCV003473903

NM_017777.4(MKS1):c.959-5C>A

SNV
Germline

Chr17:58210729

Conflicting classifications of pathogenicity

Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA626729750

rs_765242131

3 SubmittersRCV003225971 RCV001377798 RCV003152763

NM_017777.4(MKS1):c.81-2A>T

SNV
Germline

Chr17:58218731

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA8669645

rs_756709080

1 SubmittersRCV001379397

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

CA1827070

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

CA2056361

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

CA2504325

rs_779260568

2 SubmittersRCV001389784 RCV001779163

NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)

SNV
Germline

Chr4:15533264

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356410983

rs_2109029867

4 SubmittersRCV001387946 RCV001814315 RCV004733283 RCV004796624

NM_001378615.1(CC2D2A):c.3376G>A (p.Glu1126Lys)

SNV
Germline

Chr4:15567764

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356419393

rs_1473532901

1 SubmittersRCV001381356

NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter)

SNV
Germline

Chr6:135448333

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365745144

rs_2128058828

2 SubmittersRCV001382196 RCV005038183

NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter)

SNV
Germline

Chr6:135455912

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012642

rs_761388040

2 SubmittersRCV001386449 RCV005040259

NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)

SNV
Germline

Chr8:67175307

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4771009

rs_760275528

1 SubmittersRCV001380746

NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)

SNV
Germline

Chr8:93797345

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
6 conditions
TMEM67-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4808174

rs_150332116

4 SubmittersRCV001384718 RCV002499801 RCV004531194 RCV003132490

NM_153704.6(TMEM67):c.2087T>C (p.Leu696Pro)

SNV
Germline

Chr8:93797457

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371694104

rs_2130735817

1 SubmittersRCV001386357

NM_019892.6(INPP5E):c.1795C>T (p.Arg599Ter)

SNV
Germline

Chr9:136430284

Pathogenic

Joubert syndrome
INPP5E-related disorder

Criteria Provided
Single Submitter

CA375561097

rs_1191043398

2 SubmittersRCV001388913 RCV004757422

NM_019892.6(INPP5E):c.1629C>G (p.Tyr543Ter)

SNV
Germline

Chr9:136431038

Pathogenic

Joubert syndrome
INPP5E-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5336711

rs_753398503

2 SubmittersRCV001381205 RCV004531191

NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter)

SNV
Germline

Chr11:61393283

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA380684642

rs_1304320833

2 SubmittersRCV001386110 RCV004570959

NM_001173990.3(TMEM216):c.249C>A (p.Cys83Ter)

SNV
Germline

Chr11:61397793

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA380685862

rs_2135195989

1 SubmittersRCV001388868

NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385972484

rs_1374014119

3 SubmittersRCV001384498 RCV005614538 RCV002493927

NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)

SNV
Germline

Chr12:88049337

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711302

rs_775189201

2 SubmittersRCV001383766 RCV003469701

NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)

SNV
Germline

Chr12:88054380

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385975607

rs_1414041522

1 SubmittersRCV001390986

NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)

SNV
Germline

Chr12:88071364

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711612

rs_767426153

3 SubmittersRCV001388961 RCV003469749 RCV005005926

NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter)

SNV
Germline

Chr12:88080211

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385990960

rs_1367899236

1 SubmittersRCV001384921

NM_025114.4(CEP290):c.4195-1G>T

SNV
Germline

Chr12:88086499

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385997799

rs_751807811

1 SubmittersRCV001388146

NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)

SNV
Germline

Chr12:88087884

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385999234

rs_779645669

5 SubmittersRCV001381486 RCV002476720 RCV003156344 RCV004733280 RCV001836389

NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)

SNV
Germline

Chr12:88089136

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000397

rs_2036816455

2 SubmittersRCV001382323 RCV003469675

NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)

SNV
Germline

Chr12:88089139

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA386000405

rs_1417251616

3 SubmittersRCV001385692 RCV004699357 RCV004531195

NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter)

SNV
Germline

Chr12:88092808

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386004646

rs_2137344539

1 SubmittersRCV001388128

NM_025114.4(CEP290):c.3310-2A>G

SNV
Germline

Chr12:88092834

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386004787

rs_2137345150

1 SubmittersRCV001383617

NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter)

SNV
Germline

Chr12:88096969

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386007140

rs_2037477197

1 SubmittersRCV001382107

NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter)

SNV
Germline

Chr12:88111315

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385974674

rs_2137711696

1 SubmittersRCV001382457

NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)

SNV
Germline

Chr12:88114485

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385976857

rs_2038919221

3 SubmittersRCV001383423 RCV003469695 RCV005057356

NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter)

SNV
Germline

Chr12:88125270

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385981142

rs_2138000998

1 SubmittersRCV001389479

NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr12:88126321

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385982588

rs_2138021345

4 SubmittersRCV001386120 RCV005005236 RCV005409820 RCV003469719

NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr12:88130405

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385986468

rs_2039993548

2 SubmittersRCV001387371 RCV003469732

NM_025114.4(CEP290):c.355C>T (p.Gln119Ter)

SNV
Germline

Chr12:88136729

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385987566

rs_2138215835

1 SubmittersRCV001384356

NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr12:88136777

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712832

rs_752144368

2 SubmittersRCV001386072 RCV003469718

NM_015272.5(RPGRIP1L):c.2397C>A (p.Cys799Ter)

SNV
Germline

Chr16:53645911

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395914708

rs_758547965

1 SubmittersRCV001383982

NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)

SNV
Germline

Chr16:53652594

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057642

rs_201081228

2 SubmittersRCV001385484 RCV002476728

NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter)

SNV
Germline

Chr16:53656526

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395918201

rs_1676833644

2 SubmittersRCV001384117 RCV005014532

NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr16:53658443

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057817

rs_776941281

4 SubmittersRCV001384296 RCV001562284 RCV002476726

NM_015272.5(RPGRIP1L):c.1252G>T (p.Glu418Ter)

SNV
Germline

Chr16:53658870

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395920590

rs_1967512180

1 SubmittersRCV001382134

NM_015272.5(RPGRIP1L):c.1225A>T (p.Arg409Ter)

SNV
Germline

Chr16:53664888

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395921496

rs_2151198227

1 SubmittersRCV001382008

NM_015272.5(RPGRIP1L):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr16:53686437

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395923737

rs_1970017927

2 SubmittersRCV001384638 RCV005014533

NM_015272.5(RPGRIP1L):c.676G>T (p.Glu226Ter)

SNV
Germline

Chr16:53686533

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395924254

rs_2151318201

1 SubmittersRCV001380033

NM_015272.5(RPGRIP1L):c.496G>T (p.Glu166Ter)

SNV
Germline

Chr16:53692099

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395924682

rs_2151351169

1 SubmittersRCV001381374

NM_015272.5(RPGRIP1L):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr16:53692174

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395924845

rs_2151352275

1 SubmittersRCV001387377

NM_015272.5(RPGRIP1L):c.170T>A (p.Leu57Ter)

SNV
Germline

Chr16:53696211

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395925935

rs_2151379380

2 SubmittersRCV001383483 RCV005014530

NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)

SNV
Germline

Chr17:58208577

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA8669299

rs_760971749

4 SubmittersRCV001387056 RCV003145652 RCV005014537 RCV003473975

NM_017777.4(MKS1):c.417+1G>T

SNV
Germline

Chr17:58216087

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA8669546

rs_756368560

1 SubmittersRCV001389068

NM_017777.4(MKS1):c.34G>T (p.Glu12Ter)

SNV
Germline

Chr17:58219197

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400328193

rs_1183365510

1 SubmittersRCV001383061

NM_003611.3(OFD1):c.111+2T>G

SNV
Germline

ChrX:13735348

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412331964

rs_312262809

1 SubmittersRCV001380141

NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter)

SNV
Germline

Chr5:37121739

Pathogenic

Joubert syndrome 1

No Assertion Criteria Provided

CA359495964

rs_377142277

1 SubmittersRCV001730758

NM_001134831.2(AHI1):c.1131A>G (p.Gln377=)

SNV
Germline

Chr6:135457514

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012667

rs_142518256

3 SubmittersRCV001394853 RCV001773741 RCV005040273

NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys)

SNV
Germline

Chr8:67172540

Conflicting classifications of pathogenicity

Joubert syndrome 21
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4770991

rs_763639767

2 SubmittersRCV001405956 RCV005253845

NM_025114.4(CEP290):c.4195-9T>C

SNV
Germline

Chr12:88086507

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712001

rs_546957016

2 SubmittersRCV001398908 RCV002272470

NM_025114.4(CEP290):c.3429G>A (p.Lys1143=)

SNV
Germline

Chr12:88092713

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA6712143

rs_769362204

2 SubmittersRCV001418489 RCV005419123

NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=)

SNV
Germline

Chr16:53658799

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057852

rs_376335724

3 SubmittersRCV001403637 RCV002265028 RCV004531229

NM_001134831.2(AHI1):c.712A>G (p.Lys238Glu)

SNV
Germline

Chr6:135465851

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012780

rs_748182443

2 SubmittersRCV001556602 RCV001432227

NM_016464.5(TMEM138):c.81C>T (p.Phe27=)

SNV
Germline

Chr11:61364471

Conflicting classifications of pathogenicity

Joubert syndrome 16

Criteria Provided
Conflicting Classifications

CA6034513

rs_149327827

2 SubmittersRCV001426172

NM_025114.4(CEP290):c.6120A>G (p.Thr2040=)

SNV
Germline

Chr12:88068537

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711572

rs_766265410

3 SubmittersRCV001424404 RCV001820118 RCV004733299

NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)

SNV
Germline

Chr12:88068590

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA481071572

rs_764861728

2 SubmittersRCV001429116 RCV001839044

NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=)

SNV
Germline

Chr16:53692241

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA495539241

rs_1253988919

3 SubmittersRCV001445389 RCV004733321 RCV005014566

NM_015272.5(RPGRIP1L):c.303G>T (p.Arg101=)

SNV
Germline

Chr16:53692292

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA495539269

rs_182207372

2 SubmittersRCV001449419 RCV004812409

NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)

SNV
Germline

ChrX:13751328

Conflicting classifications of pathogenicity

OFD1-related disorder
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23

Criteria Provided
Conflicting Classifications

CA412339937

rs_1374240720

4 SubmittersRCV004540312 RCV003442882 RCV001430906 RCV005040281

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

CA2503717

rs_555792435

2 SubmittersRCV001476792 RCV001773754

NM_001384732.1(CPLANE1):c.5447G>A (p.Cys1816Tyr)

SNV
Germline

Chr5:37180980

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3238535

rs_138639220

4 SubmittersRCV001461663 RCV004038606 RCV005038230

NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)

SNV
Germline

Chr12:88080279

Conflicting classifications of pathogenicity

Joubert syndrome
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

Criteria Provided
Conflicting Classifications

CA6711788

rs_754184488

3 SubmittersRCV001462219 RCV004528501 RCV005005248

NM_025114.4(CEP290):c.853-9G>A

SNV
Germline

Chr12:88129044

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712684

rs_974759127

3 SubmittersRCV001458619 RCV001820151 RCV004733331

NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly)

SNV
Germline

Chr1:3815425

Conflicting classifications of pathogenicity

Joubert syndrome 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA551169

rs_755406055

2 SubmittersRCV001482791 RCV005225395

NM_019892.6(INPP5E):c.1387+20G>A

SNV
Germline

Chr9:136432459

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 1
MORM syndrome

Criteria Provided
Conflicting Classifications

CA5336826

rs_200094721

2 SubmittersRCV001493827 RCV005040292

NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=)

SNV
Germline

Chr16:53645857

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057541

rs_145807002

3 SubmittersRCV001480835 RCV003225186 RCV004533843

NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)

SNV
Germline

ChrX:13744496

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351619

rs_756793358

3 SubmittersRCV001517035 RCV002501798 RCV004037941

NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr)

SNV
Germline

ChrX:13760202

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351884

rs_201230660

3 SubmittersRCV001521664 RCV004037954 RCV004738329

NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)

SNV
Unknown

Chr12:88096906

Likely pathogenic

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Single Submitter

CA386006874

rs_2137423759

1 SubmittersRCV001535856

NM_003611.3(OFD1):c.1411+1G>A

SNV
Germline

ChrX:13756768

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23

Criteria Provided
Single Submitter

CA412342954

rs_2147027077

1 SubmittersRCV001535950

NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter)

SNV
Germline

Chr4:15528725

Pathogenic/Likely pathogenic

Abnormality of prenatal development or birth
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2863674

rs_145678228

2 SubmittersRCV001814449 RCV001873813

NM_001382391.1(CSPP1):c.1698-1G>C

SNV
Germline

Chr8:67131950

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371203409

rs_2129554176

1 SubmittersRCV001542098

NM_015272.5(RPGRIP1L):c.1351-11A>G

SNV
Germline

Chr16:53658475

Pathogenic/Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8057823

rs_750076702

4 SubmittersRCV001543698 RCV003127988 RCV003771669 RCV005005957

NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter)

SNV
Germline

Chr16:53692168

Pathogenic

Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395924831

rs_1970430433

2 SubmittersRCV001543697 RCV002568267

NM_001082538.3(TCTN1):c.341+1G>A

SNV
Germline

Chr12:110619957

Likely pathogenic

Condition: not provided
Joubert syndrome 13
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6786526

rs_200241085

3 SubmittersRCV001545104 RCV002471121 RCV002032552

NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr12:88129834

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385985714

rs_2138086844

5 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860 RCV004782757

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

CA396806903

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

CA397413707

rs_2150895254

1 SubmittersRCV001559135

NM_014804.3(KIAA0753):c.2359-1G>C

SNV
Germline

Chr17:6595054

Pathogenic

Joubert syndrome 38

No Assertion Criteria Provided

CA397405251

rs_1312865574

1 SubmittersRCV001559136

NM_024809.5(TCTN2):c.271G>T (p.Val91Leu)

SNV
Germline

Chr12:123673618

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Conflicting Classifications

CA6860856

rs_371662397

5 SubmittersRCV001564593 RCV001865992 RCV004039341 RCV004728773

NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu)

SNV
Germline

ChrX:13760538

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351928

rs_754615597

4 SubmittersRCV001572305 RCV001821904 RCV001866038

NM_024809.5(TCTN2):c.1336C>T (p.Arg446Ter)

SNV
Germline

Chr12:123696438

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6861181

rs_757485757

2 SubmittersRCV001576056 RCV002569084

NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr)

SNV
Germline

Chr4:15569352

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA356420212

rs_1410133502

2 SubmittersRCV001583355 RCV001882702

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

CA7205610

rs_368443727

2 SubmittersRCV001592175 RCV002070452

NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)

SNV
Germline

Chr8:93804878

Pathogenic

Joubert syndrome and related disorders
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4808294

rs_201791586

3 SubmittersRCV002509688 RCV002538533 RCV001844407

NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)

SNV
Germline

Chr12:88084608

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711892

rs_371157150

6 SubmittersRCV001652983 RCV002266008 RCV001827558 RCV002539602 RCV004528526 RCV005308494

NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)

SNV
Germline

Chr4:15601348

Pathogenic/Likely pathogenic

Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2864481

rs_780190318

3 SubmittersRCV001706785 RCV005213557

NM_025114.4(CEP290):c.4705-2A>C

SNV
Germline

Chr12:88083956

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA385994211

rs_2137170380

2 SubmittersRCV001724852 RCV002227536 RCV001859437

NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr4:15511418

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2863463

rs_761213221

4 SubmittersRCV001723363 RCV002539748 RCV005023216

NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)

SNV
Germline

ChrX:13751343

Conflicting classifications of pathogenicity

Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Condition: not provided
Joubert syndrome 10
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351732

rs_758903488

5 SubmittersRCV001726720 RCV003130543 RCV002471136 RCV002538677

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
IFT74-related disorder
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5015009

rs_150219690

6 SubmittersRCV001731252 RCV002032710 RCV002538705 RCV004743566 RCV005361704

NM_025103.4(IFT74):c.306-24A>G

SNV
Germline

Chr9:26984233

Pathogenic

Joubert syndrome 40

No Assertion Criteria Provided

CA2573053166

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

CA5014798

rs_751583919

2 SubmittersRCV001731255

NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)

SNV
Germline

Chr9:27016970

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 40

Criteria Provided
Multiple Submitters
No Conflicts

CA191315438

rs_1056125920

3 SubmittersRCV002539803 RCV001731256

NM_014704.4(CEP104):c.2621G>A (p.Arg874His)

SNV
Germline

Chr1:3816321

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 25
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA551220

rs_139076247

4 SubmittersRCV001733332 RCV002032725 RCV001844410 RCV002539824

NM_003611.3(OFD1):c.2223A>G (p.Lys741=)

SNV
Germline

ChrX:13760683

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA515624183

rs_1355239331

4 SubmittersRCV001758295 RCV002077186 RCV004040083 RCV004738366

NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)

SNV
Germline

ChrX:13746781

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351669

rs_780055525

3 SubmittersRCV001771053 RCV001861107 RCV004040147

NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val)

SNV
Germline

Chr16:53652987

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057716

rs_553739434

3 SubmittersRCV001769011 RCV002540481 RCV003365447

NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)

SNV
Germline

Chr4:15596103

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2864376

rs_529437224

3 SubmittersRCV001768052 RCV001775184 RCV002540665

NM_001378615.1(CC2D2A):c.2288A>C (p.Glu763Ala)

SNV
Germline

Chr4:15550930

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863879

rs_759466798

2 SubmittersRCV001758923 RCV001868700

NM_019892.6(INPP5E):c.1630G>A (p.Asp544Asn)

SNV
Germline

Chr9:136431037

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 1
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA375561616

rs_1161636527

3 SubmittersRCV001755662 RCV004783983 RCV004756292

NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)

SNV
Germline

Chr4:15515919

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863522

rs_375247004

4 SubmittersRCV001753222 RCV001868722 RCV002478000 RCV004968278

NM_016169.4(SUFU):c.31G>C (p.Gly11Arg)

SNV
Germline

Chr10:102504183

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma
Joubert syndrome 32
Medulloblastoma
Basal cell nevus syndrome 2

Criteria Provided
Conflicting Classifications

CA377886157

rs_1322807658

5 SubmittersRCV002256837 RCV003238000 RCV005397013

NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)

SNV
Germline

Chr8:67112064

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA4770469

rs_775285273

2 SubmittersRCV001775247

NM_001378615.1(CC2D2A):c.2625+2T>C

SNV
Germline

Chr4:15555212

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356420900

rs_1449972974

2 SubmittersRCV001780454 RCV002544238

NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter)

SNV
Germline

Chr4:15574318

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356424248

rs_1271825377

3 SubmittersRCV002471153 RCV003772133 RCV005038317

NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)

SNV
Germline

Chr8:67132075

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371203863

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

CA178202659

rs_200881715

1 SubmittersRCV001780586

NM_001382391.1(CSPP1):c.2538+1G>T

SNV
Germline

Chr8:67159138

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371190638

rs_2129560295

1 SubmittersRCV001780587

NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr6:135466250

Pathogenic/Likely pathogenic

Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012852

rs_774628957

2 SubmittersRCV001783339

NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)

SNV
Germline

Chr6:135457601

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA365747804

rs_2128081591

1 SubmittersRCV001783341

NM_001329943.3(KIAA0586):c.1759C>T (p.Gln587Ter)

SNV
Germline

Chr14:58459945

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

rs_2040191088

1 SubmittersRCV005215334

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

CA350945801

rs_1248147660

2 SubmittersRCV001785962 RCV002541173

NM_001378615.1(CC2D2A):c.1466+2T>C

SNV
Germline

Chr4:15528728

Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA92525432

rs_770219362

2 SubmittersRCV001780727 RCV003772147

NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)

SNV
Germline

Chr12:88093912

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386006370

rs_1267970567

3 SubmittersRCV001780761 RCV002544259 RCV003470909

NM_153704.6(TMEM67):c.978+1G>A

SNV
Germline

Chr8:93780983

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA371688549

rs_1563458773

2 SubmittersRCV001885192 RCV005040380

NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)

SNV
Germline

Chr8:93804813

Conflicting classifications of pathogenicity

Joubert syndrome 6
COACH syndrome 1
6 conditions
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA371698151

rs_1815059174

4 SubmittersRCV001785366 RCV002478012 RCV002478013 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

CA7206373

rs_200127338

4 SubmittersRCV001786702 RCV001868881 RCV003401716

NM_001134831.2(AHI1):c.136-2A>G

SNV
Germline

Chr6:135467636

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012910

rs_776579906

2 SubmittersRCV001787489 RCV003495258

NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)

SNV
Germline

Chr16:75542682

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176120

rs_201412708

5 SubmittersRCV002034659 RCV002544344 RCV001797435

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

CA359491943

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

CA389872559

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

CA395330462

rs_2144173006

1 SubmittersRCV001814815

NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)

SNV
Germline

ChrX:13767253

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome
Joubert syndrome 10
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10352070

rs_371848382

4 SubmittersRCV001817300 RCV002074279 RCV005040396 RCV004040963

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

CA7206315

rs_531527716

3 SubmittersRCV001819323 RCV002077293 RCV003394273

NM_003611.3(OFD1):c.2505A>G (p.Pro835=)

SNV
Germline

ChrX:13763761

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10352028

rs_759468353

2 SubmittersRCV001820572 RCV002542636

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
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA5621068

rs_758733887

4 SubmittersRCV001817875 RCV002077318 RCV004809681 RCV004584450

NM_001329943.3(KIAA0586):c.1657-1G>A

SNV
Germline

Chr14:58459842

Likely pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

CA389870322

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

CA359515418

rs_1581014582

1 SubmittersRCV001823705

NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385973620

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV003470936 RCV002545200

NM_001082538.3(TCTN1):c.1494+1G>A

SNV
Germline

Chr12:110645130

Likely pathogenic

Joubert syndrome 13
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA386705987

rs_1165243207

3 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

CA7978082

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
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6786671

rs_200863258

2 SubmittersRCV001844532 RCV002543304

NM_001134831.2(AHI1):c.2129G>A (p.Arg710Lys)

SNV
Germline

Chr6:135433164

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365743651

rs_1352407748

2 SubmittersRCV002025929 RCV005331133

NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter)

SNV
Germline

Chr12:88096978

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386007180

rs_2037478393

1 SubmittersRCV001917076

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

SNV
Germline

Chr16:53646004

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395914958

rs_863225215

1 SubmittersRCV001900860

NM_153704.6(TMEM67):c.312+2T>G

SNV
Germline

Chr8:93755868

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371685722

rs_2130528812

1 SubmittersRCV001927395

NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter)

SNV
Germline

Chr12:88049360

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385973003

rs_2136547054

1 SubmittersRCV001997322

NM_019892.6(INPP5E):c.1564G>C (p.Gly522Arg)

SNV
Germline

Chr9:136431103

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375561876

rs_2131605763

1 SubmittersRCV002014866

NM_015272.5(RPGRIP1L):c.1030-1G>T

SNV
Germline

Chr16:53671584

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395922704

rs_2151236867

2 SubmittersRCV002035891 RCV005008403

NM_153704.6(TMEM67):c.123C>G (p.Phe41Leu)

SNV
Germline

Chr8:93755037

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA371685284

rs_1812503608

2 SubmittersRCV001913585 RCV005505294

NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)

SNV
Germline

Chr2:110201460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827502

rs_368025611

6 SubmittersRCV001913820 RCV002555758 RCV003134231 RCV005023432

NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter)

SNV
Germline

Chr12:88058897

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385977365

rs_2136704614

1 SubmittersRCV001962676

NM_025114.4(CEP290):c.2483+1G>A

SNV
Germline

Chr12:88109065

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385972465

rs_2137661795

2 SubmittersRCV002015044 RCV005002763

NM_017777.4(MKS1):c.81-1G>A

SNV
Germline

Chr17:58218730

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA292016366

rs_12942386

1 SubmittersRCV002015057

NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser)

SNV
Germline

Chr14:58467767

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7205836

rs_776790149

2 SubmittersRCV001999023 RCV005350838

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

CA390058920

rs_2140098022

1 SubmittersRCV001870451

NM_001378615.1(CC2D2A):c.3311A>G (p.Glu1104Gly)

SNV
Germline

Chr4:15567699

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356418694

rs_2109070607

1 SubmittersRCV001878330

NM_015272.5(RPGRIP1L):c.988C>T (p.Gln330Ter)

SNV
Germline

Chr16:53672911

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395922815

rs_771058410

1 SubmittersRCV001897665

NM_001173990.3(TMEM216):c.229+1G>A

SNV
Germline

Chr11:61393977

Likely pathogenic

Joubert syndrome
Joubert syndrome 2
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA380685204

rs_2135191306

3 SubmittersRCV001987076 RCV005050506 RCV003464368

NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter)

SNV
Germline

Chr12:88121038

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385980471

rs_2137917114

1 SubmittersRCV001902894

NM_001382391.1(CSPP1):c.1022+1G>T

SNV
Germline

Chr8:67103136

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371194062

rs_2129547115

1 SubmittersRCV002009554

NM_001378615.1(CC2D2A):c.2181+17T>G

SNV
Germline

Chr4:15541031

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA92534172

rs_1016233369

2 SubmittersRCV001877057 RCV005023330

NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln)

SNV
Germline

Chr6:135442602

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012486

rs_780823419

4 SubmittersRCV001922449 RCV005038461 RCV004693905 RCV005572696

NM_003611.3(OFD1):c.1205G>A (p.Arg402His)

SNV
Germline

ChrX:13755226

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412342432

rs_1283023888

2 SubmittersRCV001892845 RCV004822950

NM_025114.4(CEP290):c.102+2T>G

SNV
Germline

Chr12:88141204

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712915

rs_763226787

5 SubmittersRCV002027685 RCV003471280 RCV002498073 RCV003226528

NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr16:53664942

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395921612

rs_2151198563

2 SubmittersRCV001904296 RCV005006109

NM_003611.3(OFD1):c.1699G>A (p.Asp567Asn)

SNV
Germline

ChrX:13760159

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Intellectual disability

Criteria Provided
Conflicting Classifications

CA10351879

rs_760663674

2 SubmittersRCV001872156 RCV005626517

NM_017777.4(MKS1):c.523G>A (p.Gly175Ser)

SNV
Germline

Chr17:58214380

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
Condition: not provided
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669478

rs_754601373

4 SubmittersRCV001881480 RCV003166936 RCV004774503 RCV004733398

NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter)

SNV
Germline

Chr12:88055695

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385976647

rs_2136656497

1 SubmittersRCV001945145

NM_001174150.2(ARL13B):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr3:94039962

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

CA353678731

rs_1362774896

1 SubmittersRCV001978984

NM_001384732.1(CPLANE1):c.2500+1G>A

SNV
Germline

Chr5:37224531

Likely pathogenic

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA359492403

rs_1796033726

2 SubmittersRCV002015452 RCV005032084

NM_015272.5(RPGRIP1L):c.632+2T>C

SNV
Germline

Chr16:53687861

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395924357

rs_2151325186

1 SubmittersRCV002028453

NM_017777.4(MKS1):c.1095+2T>C

SNV
Germline

Chr17:58208511

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA400325775

rs_2143756871

1 SubmittersRCV002049678

NM_001378615.1(CC2D2A):c.540+1G>A

SNV
Germline

Chr4:15510241

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356408703

rs_1296652053

1 SubmittersRCV002032244

NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)

SNV
Germline

Chr16:53605599

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA281349877

rs_989489575

2 SubmittersRCV002032296 RCV002507837

NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter)

SNV
Germline

Chr17:58208114

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400325630

rs_1968640181

2 SubmittersRCV001999780 RCV004571706

NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter)

SNV
Germline

Chr12:88117059

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385978073

rs_2137836218

1 SubmittersRCV001999893

NM_001378615.1(CC2D2A):c.4850T>C (p.Ile1617Thr)

SNV
Germline

Chr4:15601412

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2864490

rs_371868705

2 SubmittersRCV001899705 RCV002265039

NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)

SNV
Germline

Chr12:88058963

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385977637

rs_1375836634

2 SubmittersRCV001941643 RCV003471149

NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter)

SNV
Germline

Chr8:93797200

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA4808154

rs_115195998

2 SubmittersRCV001939456 RCV005042592

NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys)

SNV
Germline

Chr4:15567698

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356418689

rs_2109070604

1 SubmittersRCV002046548

NM_019892.6(INPP5E):c.1747G>T (p.Asp583Tyr)

SNV
Germline

Chr9:136430332

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375561221

rs_756888841

1 SubmittersRCV001930582

NM_001378615.1(CC2D2A):c.845A>C (p.Glu282Ala)

SNV
Germline

Chr4:15514834

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863504

rs_760099299

3 SubmittersRCV001964193 RCV003120791 RCV005535203

NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile)

SNV
Germline

Chr14:58457810

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7205655

rs_779792778

2 SubmittersRCV001890794 RCV005350708

NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter)

SNV
Germline

Chr16:53652709

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395916913

rs_2151125946

2 SubmittersRCV001953061 RCV005016915

NM_017777.4(MKS1):c.516-2A>G

SNV
Germline

Chr17:58214389

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400327106

rs_2143805609

2 SubmittersRCV001964030 RCV003475263

NM_001382391.1(CSPP1):c.88A>G (p.Met30Val)

SNV
Germline

Chr8:67074340

Conflicting classifications of pathogenicity

Joubert syndrome 21
Condition: not provided
Optic atrophy

Criteria Provided
Conflicting Classifications

CA4770114

rs_199831541

3 SubmittersRCV001996191 RCV003434382 RCV004816897

NM_001352754.2(ARMC9):c.2160G>A (p.Trp720Ter)

SNV
Germline

Chr2:231360782

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 30

Criteria Provided
Conflicting Classifications

CA350958075

rs_2045539003

2 SubmittersRCV002033811 RCV005361904

NM_017777.4(MKS1):c.469G>T (p.Glu157Ter)

SNV
Germline

Chr17:58214787

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400327201

rs_200970148

1 SubmittersRCV001923539

NM_015631.6(TCTN3):c.970-2A>G

SNV
Germline

Chr10:95684626

Likely pathogenic

Orofacial-digital syndrome IV
Joubert syndrome 18

Criteria Provided
Single Submitter

CA5620990

rs_777263669

1 SubmittersRCV002029922

NM_001077418.3(TMEM231):c.140-3C>G

SNV
Germline

Chr16:75555976

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

CA8176275

rs_776673877

1 SubmittersRCV001950943

NM_015631.6(TCTN3):c.178G>A (p.Val60Met)

SNV
Germline

Chr10:95693722

Conflicting classifications of pathogenicity

Orofacial-digital syndrome IV
Joubert syndrome 18
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5621200

rs_557962090

3 SubmittersRCV001992007 RCV004763299 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

CA261610313

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

CA117077141

rs_141153181

3 SubmittersRCV001935562 RCV002503596

NM_001375405.1(CEP120):c.2606G>A (p.Arg869His)

SNV
Germline

Chr5:123350064

Conflicting classifications of pathogenicity

Inborn genetic diseases
Short-rib thoracic dysplasia 13 with or without polydactyly
Joubert syndrome 31
Short-rib thoracic dysplasia 13 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3386574

rs_771132137

3 SubmittersRCV004611955 RCV001886761 RCV005038443

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

CA4770047

rs_371071297

2 SubmittersRCV002013038 RCV004045970

NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)

SNV
Germline

ChrX:13753440

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351751

rs_758883184

3 SubmittersRCV001905376 RCV003987921 RCV004822943

NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu)

SNV
Germline

Chr6:135428670

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365742154

rs_1217172210

1 SubmittersRCV001882058

NM_019892.6(INPP5E):c.1726T>G (p.Cys576Gly)

SNV
Germline

Chr9:136430353

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375561287

rs_2131604859

1 SubmittersRCV001982454

NM_015272.5(RPGRIP1L):c.2304+1G>T

SNV
Germline

Chr16:53648963

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA8057586

rs_746451396

1 SubmittersRCV002010577

NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg)

SNV
Germline

Chr4:15536988

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356411315

rs_754221308

1 SubmittersRCV002040213

NM_001134831.2(AHI1):c.136-1G>A

SNV
Germline

Chr6:135467635

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365753773

rs_2128100946

1 SubmittersRCV002012883

NM_001174150.2(ARL13B):c.554G>A (p.Trp185Ter)

SNV
Germline

Chr3:94036619

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

CA2504094

rs_760756412

1 SubmittersRCV001952265

NM_001329943.3(KIAA0586):c.4495+3767A>T

SNV
Germline

Chr14:58543903

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

CA390059064

rs_2140128191

1 SubmittersRCV001949268

NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr)

SNV
Germline

Chr8:93795971

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
TMEM67-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA4808119

rs_377160954

3 SubmittersRCV002046929 RCV004733388 RCV005040416

NM_153704.6(TMEM67):c.1674+1G>A

SNV
Germline

Chr8:93793297

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371691531

rs_1211156516

1 SubmittersRCV002047102

NM_015272.5(RPGRIP1L):c.1350+1G>A

SNV
Germline

Chr16:53658771

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395920070

rs_761435025

1 SubmittersRCV001964441

NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)

SNV
Germline

Chr6:135394815

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012179

rs_750383545

3 SubmittersRCV001891112 RCV002503508 RCV003247107

NM_025114.4(CEP290):c.1359+1G>A

SNV
Germline

Chr12:88120996

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241152412

rs_935130451

3 SubmittersRCV002017506 RCV002507780 RCV003471253

NM_019892.6(INPP5E):c.1367A>C (p.Asn456Thr)

SNV
Germline

Chr9:136432499

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375563278

rs_2131607846

1 SubmittersRCV001916692

NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr)

SNV
Germline

Chr16:53622328

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA281358356

rs_919333754

4 SubmittersRCV002007877 RCV002243497 RCV004733435 RCV005016989

NM_001128178.3(NPHP1):c.729-2A>G

SNV
Germline

Chr2:110164732

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

CA1827284

rs_773781058

3 SubmittersRCV002011188 RCV002492327 RCV003471256

NM_015272.5(RPGRIP1L):c.2246G>A (p.Arg749Lys)

SNV
Germline

Chr16:53649022

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057594

rs_774573573

2 SubmittersRCV002017141 RCV005473083

NM_025114.4(CEP290):c.251-1G>C

SNV
Germline

Chr12:88139192

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385988942

rs_2138259162

1 SubmittersRCV002017305

NM_025114.4(CEP290):c.361G>T (p.Glu121Ter)

SNV
Germline

Chr12:88136723

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385987523

rs_2138215714

1 SubmittersRCV001961872

NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)

SNV
Germline

Chr10:95685585

Pathogenic

Orofacial-digital syndrome IV
Joubert syndrome 18
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA211804304

rs_793888508

2 SubmittersRCV001914436 RCV003492701

NM_017777.4(MKS1):c.515+2T>C

SNV
Germline

Chr17:58214739

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400327108

rs_1376664664

1 SubmittersRCV001940981

NM_025114.4(CEP290):c.1623+2C>A

SNV
Germline

Chr12:88118641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA385979091

rs_2039218006

4 SubmittersRCV001941065 RCV002484634 RCV004733422 RCV005406213

NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter)

SNV
Germline

Chr12:88121109

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385980733

rs_1269182131

2 SubmittersRCV001949664 RCV004571748

NM_017777.4(MKS1):c.1301G>A (p.Trp434Ter)

SNV
Germline

Chr17:58207191

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400325016

rs_2143744476

1 SubmittersRCV001958858

NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)

SNV
Germline

Chr6:135438430

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365744245

rs_1785745572

3 SubmittersRCV001975210 RCV003987946

NM_025114.4(CEP290):c.3573+1G>T

SNV
Germline

Chr12:88090727

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001540

rs_1339320666

1 SubmittersRCV001958976

NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)

SNV
Germline

Chr14:58461151

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7205760

rs_749475936

3 SubmittersRCV001906886 RCV005432841 RCV003492698

NM_001378615.1(CC2D2A):c.778G>A (p.Val260Met)

SNV
Germline

Chr4:15514767

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA92512094

rs_918403472

2 SubmittersRCV001882078 RCV005535110

NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter)

SNV
Germline

Chr12:88107025

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385971794

rs_2038335853

1 SubmittersRCV001896199

NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val)

SNV
Germline

Chr8:93797456

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371694097

rs_863225238

1 SubmittersRCV001971095

NM_001378615.1(CC2D2A):c.2192C>T (p.Thr731Ile)

SNV
Germline

Chr4:15550834

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863864

rs_758339439

2 SubmittersRCV002005476 RCV004612057

NM_024809.5(TCTN2):c.957A>G (p.Lys319=)

SNV
Germline

Chr12:123690598

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Conflicting Classifications

CA482266041

rs_1331215787

2 SubmittersRCV001926375 RCV005006243

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

CA389878218

rs_2141025675

1 SubmittersRCV002018695

NM_017777.4(MKS1):c.1096-1G>C

SNV
Germline

Chr17:58208175

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400325769

rs_1401015954

1 SubmittersRCV001971650

NM_001174150.2(ARL13B):c.436T>G (p.Cys146Gly)

SNV
Germline

Chr3:94035386

Conflicting classifications of pathogenicity

Joubert syndrome 8
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2504034

rs_202125140

4 SubmittersRCV002020233 RCV002266087 RCV005473087

NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter)

SNV
Germline

Chr12:88102927

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385969559

rs_1592574519

1 SubmittersRCV002004621

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

CA396806690

rs_2151702587

1 SubmittersRCV001997167

NM_001378615.1(CC2D2A):c.1018-1G>A

SNV
Germline

Chr4:15516624

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356409801

rs_1716886666

1 SubmittersRCV001977648

NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter)

SNV
Germline

Chr12:88064064

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385979815

rs_2136814350

1 SubmittersRCV001894546

NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)

SNV
Germline

Chr4:15574243

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Joubert syndrome 1
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA92519140

rs_1022325907

5 SubmittersRCV001919810 RCV002463064 RCV002554223 RCV003444065 RCV004796678

NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)

SNV
Germline

Chr12:88090808

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386002148

rs_2036977924

2 SubmittersRCV002035322 RCV003471118

NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr2:201636847

Pathogenic/Likely pathogenic

Joubert syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA63958480

rs_902145121

2 SubmittersRCV001993335

NM_025114.4(CEP290):c.3573+1G>C

SNV
Germline

Chr12:88090727

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386001541

rs_1339320666

1 SubmittersRCV002006928

NM_153704.6(TMEM67):c.1638G>A (p.Trp546Ter)

SNV
Germline

Chr8:93793260

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371691352

rs_2130719312

1 SubmittersRCV002037856

NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr12:88126396

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385982955

rs_2138023519

1 SubmittersRCV002000210

NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter)

SNV
Germline

Chr12:88120231

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385980129

rs_1361189290

1 SubmittersRCV001994798

NM_015272.5(RPGRIP1L):c.1905T>G (p.Tyr635Ter)

SNV
Germline

Chr16:53652782

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395917068

rs_1353551542

2 SubmittersRCV002002417 RCV002473335

NM_001352754.2(ARMC9):c.895C>T (p.Arg299Ter)

SNV
Germline

Chr2:231256601

Pathogenic

Condition: not provided
Joubert syndrome 30

Criteria Provided
Multiple Submitters
No Conflicts

CA2160109

rs_754385274

2 SubmittersRCV002002458 RCV005225550

NM_015272.5(RPGRIP1L):c.633-1G>C

SNV
Germline

Chr16:53686577

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395924352

rs_2151318564

1 SubmittersRCV001988174

NM_153704.6(TMEM67):c.2122G>C (p.Ala708Pro)

SNV
Germline

Chr8:93799639

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA371695192

rs_149475825

2 SubmittersRCV002035252 RCV003289303

NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)

SNV
Germline

Chr16:53687896

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8058080

rs_564992297

2 SubmittersRCV001993240 RCV002497860

NM_001384732.1(CPLANE1):c.7402C>T (p.Gln2468Ter)

SNV
Germline

Chr5:37165670

Pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA359476632

rs_2150870227

2 SubmittersRCV002035297 RCV005031989

NM_001384732.1(CPLANE1):c.8462-6G>C

SNV
Germline

Chr5:37142486

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA2573139588

rs_1029215971

2 SubmittersRCV001931758 RCV002484676

NM_001134831.2(AHI1):c.2989-2A>G

SNV
Germline

Chr6:135394898

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365843932

rs_2128485171

1 SubmittersRCV001971717

NM_025114.4(CEP290):c.730G>T (p.Glu244Ter)

SNV
Germline

Chr12:88129816

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385985602

rs_2138086329

1 SubmittersRCV001993385

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

CA371202465

rs_1045070965

2 SubmittersRCV001995648 RCV003235646

NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro)

SNV
Germline

Chr6:135448423

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365745520

rs_2128059170

1 SubmittersRCV002043017

NM_001077418.3(TMEM231):c.582+1G>A

SNV
Germline

Chr16:75545351

Pathogenic/Likely pathogenic

Meckel syndrome, type 11
Joubert syndrome 20
TMEM231-related disorder
Ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA8176148

rs_752141701

4 SubmittersRCV001960707 RCV004756329 RCV005361866

NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter)

SNV
Germline

Chr8:93795972

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA371693107

rs_1258492758

2 SubmittersRCV001942012 RCV004529066

NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter)

SNV
Germline

Chr12:88060913

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385978669

rs_1234975160

1 SubmittersRCV001942017

NM_015272.5(RPGRIP1L):c.3221-2A>G

SNV
Germline

Chr16:53636514

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057326

rs_200448428

2 SubmittersRCV001994321 RCV005008350

NM_025114.4(CEP290):c.2367+2T>C

SNV
Germline

Chr12:88111200

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385974282

rs_2137707354

1 SubmittersRCV001994352

NM_015272.5(RPGRIP1L):c.776+2T>C

SNV
Germline

Chr16:53686431

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395923722

rs_2151317483

1 SubmittersRCV002012385

NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter)

SNV
Germline

Chr8:93786321

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis 11
TMEM67-related disorder
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA4807940

rs_778155409

4 SubmittersRCV001920653 RCV003152777 RCV004529044 RCV005050458

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

CA389865651

rs_2140707466

1 SubmittersRCV001979561

NM_153704.6(TMEM67):c.407-2A>G

SNV
Germline

Chr8:93763840

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371686270

rs_2130576231

1 SubmittersRCV001986645

NM_025114.4(CEP290):c.2368-1G>T

SNV
Germline

Chr12:88109182

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385973476

rs_2137665576

1 SubmittersRCV001929413

NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter)

SNV
Germline

Chr12:88083954

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385994177

rs_2137170285

1 SubmittersRCV002002548

NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter)

SNV
Germline

Chr12:88071782

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385984307

rs_2035393800

1 SubmittersRCV001939333

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

CA5621211

rs_373479905

4 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

CA262037732

rs_942756021

1 SubmittersRCV001960503

NM_001134831.2(AHI1):c.478A>T (p.Lys160Ter)

SNV
Germline

Chr6:135466085

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365751580

rs_1257185309

2 SubmittersRCV001939373 RCV005031997

NM_015272.5(RPGRIP1L):c.1582-1G>C

SNV
Germline

Chr16:53656590

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057758

rs_750917538

2 SubmittersRCV002022295 RCV004798936

NM_001384732.1(CPLANE1):c.2292-1G>A

SNV
Germline

Chr5:37224741

Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA359494015

rs_1244119341

2 SubmittersRCV002016411 RCV005032104

NM_025114.4(CEP290):c.942+1G>A

SNV
Germline

Chr12:88128945

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385983528

rs_2039897317

1 SubmittersRCV002016508

NM_015272.5(RPGRIP1L):c.2152+1G>C

SNV
Germline

Chr16:53652534

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA281343801

rs_1006433886

1 SubmittersRCV002032934

NM_153704.6(TMEM67):c.459T>A (p.Cys153Ter)

SNV
Germline

Chr8:93763894

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA4807655

rs_745935752

1 SubmittersRCV001900622

NM_025114.4(CEP290):c.1065+1G>C

SNV
Germline

Chr12:88126315

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385982538

rs_2138021203

1 SubmittersRCV002020667

NM_025114.4(CEP290):c.6961-1G>T

SNV
Germline

Chr12:88054414

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA385975780

rs_2136637204

2 SubmittersRCV002030172 RCV004536360

NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter)

SNV
Germline

Chr12:88083896

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711868

rs_760653238

3 SubmittersRCV001913188 RCV004571578 RCV004728918

NM_025114.4(CEP290):c.661G>T (p.Glu221Ter)

SNV
Germline

Chr12:88130276

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385986113

rs_2138093974

1 SubmittersRCV001936519

NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)

SNV
Germline

Chr12:88102942

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385969667

rs_1180594304

2 SubmittersRCV001951020 RCV003471170

NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter)

SNV
Germline

Chr4:15478804

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356407240

rs_2108970120

2 SubmittersRCV001946878 RCV005025525

NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386006030

rs_886042467

2 SubmittersRCV001905654 RCV005006155

NM_001128178.3(NPHP1):c.143+1G>C

SNV
Germline

Chr2:110201420

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA53543840

rs_745806504

3 SubmittersRCV001970457 RCV002497908 RCV003471207

NM_025114.4(CEP290):c.181-1G>A

SNV
Germline

Chr12:88139565

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA6712882

rs_281865190

1 SubmittersRCV001991357

NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter)

SNV
Germline

Chr2:201633392

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA350314199

rs_2105900861

1 SubmittersRCV001942264

NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)

SNV
Germline

Chr12:88071343

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385983463

rs_2035358840

2 SubmittersRCV001942295 RCV003471165

NM_025114.4(CEP290):c.4812+1G>A

SNV
Germline

Chr12:88083846

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385993105

rs_2137167420

1 SubmittersRCV001995863

NM_017777.4(MKS1):c.161T>A (p.Leu54Ter)

SNV
Germline

Chr17:58218649

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA400327916

rs_2143838681

1 SubmittersRCV001900737

NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)

SNV
Germline

Chr12:88084639

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711898

rs_746305733

2 SubmittersRCV001898905 RCV003471029

NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)

SNV
Germline

Chr2:201633428

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA350314365

rs_1687223389

1 SubmittersRCV001971939

NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr)

SNV
Germline

Chr16:75556206

Pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Single Submitter

CA283891042

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

CA6034517

rs_146264153

1 SubmittersRCV001956237

NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)

SNV
Germline

Chr16:75556086

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

CA396810035

rs_1197109885

1 SubmittersRCV001956343

NM_025114.4(CEP290):c.3G>A (p.Met1Ile)

SNV
Germline

Chr12:88141305

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712932

rs_773525033

2 SubmittersRCV001956388 RCV005002725

NM_017777.4(MKS1):c.136G>T (p.Glu46Ter)

SNV
Germline

Chr17:58218674

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400327970

rs_183617764

1 SubmittersRCV001949540

NM_001382391.1(CSPP1):c.-69C>T

SNV
Germline

Chr8:67064480

Pathogenic/Likely pathogenic

Joubert syndrome 21
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371208732

rs_1294428066

2 SubmittersRCV002041902 RCV005415621

NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=)

SNV
Germline

Chr4:15555210

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA438389068

rs_765873247

2 SubmittersRCV002051357 RCV005023290

NM_001077418.3(TMEM231):c.759G>A (p.Val253=)

SNV
Germline

Chr16:75541361

Conflicting classifications of pathogenicity

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Conflicting Classifications

CA283885888

rs_1020757759

2 SubmittersRCV001880946

NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)

SNV
Germline

Chr2:201633381

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA2056517

rs_565778005

1 SubmittersRCV001925309

NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter)

SNV
Germline

Chr12:88083218

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385993051

rs_2137156392

1 SubmittersRCV001956092

NM_025114.4(CEP290):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr12:88139555

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385989437

rs_1166981120

1 SubmittersRCV001972739

NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg)

SNV
Germline

Chr8:93785265

Conflicting classifications of pathogenicity

6 conditions
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA371689282

rs_1455416289

2 SubmittersRCV002503364 RCV002051151

NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu)

SNV
Germline

Chr4:15502868

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2863396

rs_768439693

2 SubmittersRCV001941459 RCV003438904

NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter)

SNV
Germline

Chr12:88077299

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385987708

rs_2137050478

1 SubmittersRCV001969840

NM_001082538.3(TCTN1):c.125T>C (p.Leu42Pro)

SNV
Germline

Chr12:110614307

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA386700649

rs_1415245710

2 SubmittersRCV001994991 RCV003303528

NM_001173990.3(TMEM216):c.35-1G>A

SNV
Germline

Chr11:61393230

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA380684529

rs_2135189980

1 SubmittersRCV001995030

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

CA7206207

rs_373763986

2 SubmittersRCV001947018 RCV003992592

NM_017777.4(MKS1):c.191-1G>A

SNV
Germline

Chr17:58216737

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8669609

rs_201362733

3 SubmittersRCV001972515 RCV003475233 RCV005016952

NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter)

SNV
Germline

Chr16:53645857

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA395914594

rs_145807002

3 SubmittersRCV001972569 RCV005016953 RCV004728993

NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087933

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385999344

rs_2137251821

1 SubmittersRCV001953690

NM_014875.3(KIF14):c.3661+1G>T

SNV
Germline

Chr1:200569910

Likely pathogenic

Condition: not provided
KIF14-related disorder
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA1317197

rs_151249558

3 SubmittersRCV002005870 RCV003408047 RCV003155454

NM_015272.5(RPGRIP1L):c.2874+1G>C

SNV
Germline

Chr16:53641284

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA8057445

rs_753075262

2 SubmittersRCV002005878 RCV003226520

NM_017777.4(MKS1):c.1490+1G>A

SNV
Germline

Chr17:58206464

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400324617

rs_2143737350

2 SubmittersRCV002022975 RCV003475289

NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter)

SNV
Germline

Chr12:88083098

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385992801

rs_2137152484

1 SubmittersRCV001963182

NM_025114.4(CEP290):c.4194+2T>A

SNV
Germline

Chr12:88087778

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385998799

rs_2137247685

1 SubmittersRCV002006563

NM_025114.4(CEP290):c.181-9A>G

SNV
Germline

Chr12:88139573

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712885

rs_745494615

3 SubmittersRCV002008872 RCV004538715 RCV005008362

NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)

SNV
Germline

Chr17:58213856

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400326772

rs_2143800757

2 SubmittersRCV001883884 RCV002307778

NM_015272.5(RPGRIP1L):c.2684-1G>A

SNV
Germline

Chr16:53641476

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395913269

rs_2151060257

2 SubmittersRCV002033536 RCV005017020

NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)

SNV
Germline

Chr2:110168477

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Inborn genetic diseases
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827351

rs_373951297

4 SubmittersRCV002049316 RCV002489940 RCV002545704 RCV004734292

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

CA389859188

rs_1301378192

1 SubmittersRCV001883674

NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)

SNV
Germline

Chr12:88111771

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385975100

rs_1440259390

2 SubmittersRCV001906982 RCV003471033

NM_018718.3(CEP41):c.278-1G>A

SNV
Germline

Chr7:130404709

Likely pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

CA369289466

rs_1796956272

1 SubmittersRCV002002640

NM_001134831.2(AHI1):c.3200C>G (p.Ser1067Ter)

SNV
Germline

Chr6:135323290

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845751

rs_2128384779

1 SubmittersRCV001952073

NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter)

SNV
Germline

Chr8:67137462

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371205223

rs_1225726214

1 SubmittersRCV001949545

NM_153704.6(TMEM67):c.2345A>G (p.His782Arg)

SNV
Germline

Chr8:93804784

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA4808285

rs_777137476

1 SubmittersRCV001949607

NM_015272.5(RPGRIP1L):c.3220+1G>A

SNV
Germline

Chr16:53637694

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA281369136

rs_969617857

2 SubmittersRCV002003648 RCV005361897

NM_001082538.3(TCTN1):c.1104+1G>C

SNV
Germline

Chr12:110641150

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA6786807

rs_756402483

1 SubmittersRCV002030713

NM_015272.5(RPGRIP1L):c.2958+1G>T

SNV
Germline

Chr16:53641032

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395926904

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

CA389858966

rs_2140372917

1 SubmittersRCV002042120

NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)

SNV
Germline

Chr4:15540843

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863823

rs_763596840

3 SubmittersRCV001863471 RCV002272505 RCV004611894

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

CA389860552

rs_2038350104

1 SubmittersRCV001987098

NM_153704.6(TMEM67):c.869+17T>A

SNV
Germline

Chr8:93780764

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA4807788

rs_767408748

2 SubmittersRCV001958334 RCV002507666

NM_015272.5(RPGRIP1L):c.1150C>T (p.Gln384Ter)

SNV
Germline

Chr16:53664963

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395921653

rs_1968112121

2 SubmittersRCV001992682 RCV005607035

NM_024809.5(TCTN2):c.267+1G>A

SNV
Germline

Chr12:123672133

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA6860835

rs_141752910

2 SubmittersRCV002015985 RCV005008392

NM_025114.4(CEP290):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr12:88129804

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385985522

rs_2138085855

1 SubmittersRCV001929705

NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile)

SNV
Germline

Chr5:37168870

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3238130

rs_369361493

5 SubmittersRCV001896274 RCV004041459 RCV002482724 RCV005370011

NM_017777.4(MKS1):c.639T>A (p.Tyr213Ter)

SNV
Germline

Chr17:58214264

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400326830

rs_746647549

1 SubmittersRCV001914037

NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter)

SNV
Germline

Chr12:88089331

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386000827

rs_2137277291

1 SubmittersRCV001914219

NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)

SNV
Germline

Chr12:88084613

Pathogenic/Likely pathogenic

Joubert syndrome
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

Criteria Provided
Multiple Submitters
No Conflicts

CA385994556

rs_2137182509

3 SubmittersRCV001979757 RCV005006295 RCV005607036

NM_153704.6(TMEM67):c.714G>A (p.Trp238Ter)

SNV
Germline

Chr8:93772651

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371687385

rs_1038920023

1 SubmittersRCV002039875

NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter)

SNV
Germline

Chr12:88093874

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386006186

rs_2137365958

1 SubmittersRCV001909306

NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)

SNV
Germline

Chr2:110131704

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA427921736

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

CA5620975

rs_765375312

2 SubmittersRCV001983427 RCV003170426

NM_153704.6(TMEM67):c.1646G>A (p.Arg549His)

SNV
Germline

Chr8:93793268

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4808036

rs_768457119

2 SubmittersRCV001978403 RCV004793677

NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)

SNV
Germline

Chr2:201629730

Conflicting classifications of pathogenicity

Joubert syndrome 14

Criteria Provided
Conflicting Classifications

CA350310049

rs_2105899169

2 SubmittersRCV002009964

NM_001134831.2(AHI1):c.2961+2T>G

SNV
Germline

Chr6:135411346

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845760

rs_2127973751

1 SubmittersRCV001986412

NM_015631.6(TCTN3):c.1203+1G>C

SNV
Germline

Chr10:95683521

Likely pathogenic

Orofacial-digital syndrome IV
Joubert syndrome 18

Criteria Provided
Single Submitter

CA377704396

rs_1221992171

1 SubmittersRCV002043471

NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter)

SNV
Germline

Chr12:110634693

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA6786699

rs_748215804

2 SubmittersRCV001940214 RCV002300621

NM_015272.5(RPGRIP1L):c.2067A>G (p.Glu689=)

SNV
Germline

Chr16:53652620

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA281343913

rs_890062959

2 SubmittersRCV001948838 RCV005016897

NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp)

SNV
Germline

Chr9:136431839

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 1
MORM syndrome
INPP5E-related disorder
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336762

rs_374152018

4 SubmittersRCV001957700 RCV002484684 RCV004756322 RCV004798933

NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)

SNV
Germline

Chr12:88141298

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder
Inborn genetic diseases
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA241168932

rs_997653455

4 SubmittersRCV001916478 RCV004733414 RCV004975851 RCV005002661

NM_001382391.1(CSPP1):c.1497-2A>C

SNV
Germline

Chr8:67118246

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4770563

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
Joubert syndrome 23

Criteria Provided
Multiple Submitters
No Conflicts

CA7206371

rs_763815640

2 SubmittersRCV001983504 RCV004784027

NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)

SNV
Germline

Chr6:135466282

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012857

rs_373490556

3 SubmittersRCV002041018 RCV002498064 RCV003348766

NM_025114.4(CEP290):c.943-1G>A

SNV
Germline

Chr12:88126439

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385983225

rs_2138025029

1 SubmittersRCV001980914

NM_001329943.3(KIAA0586):c.1885-2A>G

SNV
Germline

Chr14:58460984

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

CA389872089

rs_1431898844

1 SubmittersRCV002038452

NM_025114.4(CEP290):c.3378G>A (p.Val1126=)

SNV
Germline

Chr12:88092764

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712155

rs_546939043

3 SubmittersRCV002142105 RCV004543835 RCV005002797

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

CA7206458

rs_767347007

2 SubmittersRCV002208510 RCV003089099

NM_015272.5(RPGRIP1L):c.231-15T>G

SNV
Germline

Chr16:53692379

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8058165

rs_762320051

2 SubmittersRCV002140993 RCV005017154

NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)

SNV
Germline

Chr12:88083123

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA481075641

rs_1330745435

2 SubmittersRCV002135039 RCV003889054

NM_001384732.1(CPLANE1):c.4096G>A (p.Val1366Met)

SNV
Germline

Chr5:37186379

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238777

rs_781367784

2 SubmittersRCV002103105 RCV005032161

NM_001384732.1(CPLANE1):c.6275T>C (p.Leu2092Ser)

SNV
Germline

Chr5:37170228

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238292

rs_558551880

2 SubmittersRCV002152760 RCV005032167

NM_001378615.1(CC2D2A):c.439-13T>G

SNV
Germline

Chr4:15510126

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA549889137

rs_1305181844

2 SubmittersRCV002122281 RCV005025704

NM_001384732.1(CPLANE1):c.5410G>T (p.Ala1804Ser)

SNV
Germline

Chr5:37182771

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA3238557

rs_181490574

2 SubmittersRCV002175940 RCV005032185

NM_016464.5(TMEM138):c.231G>A (p.Lys77=)

SNV
Germline

Chr11:61366147

Conflicting classifications of pathogenicity

Joubert syndrome 16

Criteria Provided
Conflicting Classifications

CA474515333

rs_2135158146

2 SubmittersRCV002140541

NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala)

SNV
Germline

ChrX:13760297

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351895

rs_775062213

3 SubmittersRCV002086032 RCV004531349 RCV004045760

NM_024809.5(TCTN2):c.267+17A>T

SNV
Germline

Chr12:123672149

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Conflicting Classifications

CA2573148068

rs_1593828714

2 SubmittersRCV002144282 RCV005008474

NM_153704.6(TMEM67):c.406+12A>T

SNV
Germline

Chr8:93758588

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA181307078

rs_575499078

2 SubmittersRCV002145521 RCV005042735

NM_025114.4(CEP290):c.298-16G>A

SNV
Germline

Chr12:88136802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712840

rs_531851010

2 SubmittersRCV002078512 RCV005002795

NM_025114.4(CEP290):c.6774T>G (p.Leu2258=)

SNV
Germline

Chr12:88058892

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA481059257

rs_2034234195

2 SubmittersRCV002197703 RCV003889030

NM_003611.3(OFD1):c.2708A>T (p.Glu903Val)

SNV
Germline

ChrX:13767235

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10352068

rs_761100130

2 SubmittersRCV002114734 RCV004046547

NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly)

SNV
Germline

Chr5:37158276

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3237955

rs_766541647

4 SubmittersRCV002111419 RCV005032158

NM_001174150.2(ARL13B):c.57C>A (p.Val19=)

SNV
Germline

Chr3:93980480

Conflicting classifications of pathogenicity

Joubert syndrome 8

Criteria Provided
Conflicting Classifications

CA434461733

rs_1326813345

2 SubmittersRCV002073876

NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)

SNV
Germline

ChrX:13769096

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352147

rs_758646234

3 SubmittersRCV002121294 RCV004046541 RCV005042739

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

CA7002435

rs_11544631

3 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

CA551213

rs_552644535

3 SubmittersRCV002108744 RCV003933536

NM_003611.3(OFD1):c.345T>G (p.Ile115Met)

SNV
Germline

ChrX:13738878

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351576

rs_751918276

2 SubmittersRCV002218623 RCV004045640

NM_001384732.1(CPLANE1):c.5579C>T (p.Pro1860Leu)

SNV
Germline

Chr5:37180175

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3238500

rs_368751039

3 SubmittersRCV002075133 RCV005042722 RCV004753496

NM_001384732.1(CPLANE1):c.8873G>A (p.Arg2958Gln)

SNV
Germline

Chr5:37125329

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA3237637

rs_533791946

2 SubmittersRCV002087820 RCV005032156

NM_019892.6(INPP5E):c.430C>G (p.Arg144Gly)

SNV
Germline

Chr9:136438990

Conflicting classifications of pathogenicity

Joubert syndrome
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA375569072

rs_1479443394

2 SubmittersRCV002131313 RCV004529098

NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln)

SNV
Germline

Chr1:3836586

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 25

Criteria Provided
Conflicting Classifications

CA551687

rs_143501631

2 SubmittersRCV003234166 RCV002174986

NM_003611.3(OFD1):c.1703G>A (p.Arg568His)

SNV
Germline

ChrX:13760163

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10351880

rs_376012267

3 SubmittersRCV002076640 RCV003481258 RCV003889018

NM_001378615.1(CC2D2A):c.2004-17A>G

SNV
Germline

Chr4:15540820

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA2863819

rs_759192059

2 SubmittersRCV002190281 RCV005406302

NM_001173990.3(TMEM216):c.34+12G>C

SNV
Germline

Chr11:61392677

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Conflicting Classifications

CA599503117

rs_1336106190

2 SubmittersRCV002148502 RCV005050542

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

CA8176200

rs_534627748

2 SubmittersRCV002139018 RCV003138095

NM_001174150.2(ARL13B):c.689+13A>T

SNV
Germline

Chr3:94036767

Conflicting classifications of pathogenicity

Joubert syndrome 8

Criteria Provided
Conflicting Classifications

CA1051000646

rs_750183691

2 SubmittersRCV002147550

NM_153704.6(TMEM67):c.37G>A (p.Val13Ile)

SNV
Germline

Chr8:93754951

Conflicting classifications of pathogenicity

Inborn genetic diseases
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4807499

rs_561584664

2 SubmittersRCV003348783 RCV002169626

NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)

SNV
Germline

Chr16:75556173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176313

rs_775329522

2 SubmittersRCV002154512 RCV002272570

NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)

SNV
Germline

Chr12:88077701

Pathogenic/Likely pathogenic

CEP290-related disorder
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385988018

rs_2137056192

2 SubmittersRCV002223093 RCV003089158

NM_001258244.2(TMEM218):c.111G>T (p.Arg37Ser)

SNV
Unknown

Chr11:125101303

Likely pathogenic

Joubert syndrome 39

Criteria Provided
Single Submitter

CA383169384

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

CA350310403

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
INPP5E-related disorder
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5336669

rs_763992407

3 SubmittersRCV002238656 RCV004529107 RCV003598066

NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter)

SNV
Germline

Chr2:231781069

Pathogenic

Joubert syndrome 22

No Assertion Criteria Provided

CA350979331

rs_2106294164

1 SubmittersRCV002244302

NM_015681.6(B9D1):c.529G>C (p.Asp177His)

SNV
Germline

Chr17:19343405

Likely pathogenic

Joubert syndrome 27
Meckel syndrome, type 9

Criteria Provided
Single Submitter

CA398692345

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
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400324634

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

CA338038931

rs_750473230

2 SubmittersRCV002252623 RCV002300657

NM_153704.6(TMEM67):c.224-2A>T

SNV
Germline

Chr8:93755776

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4807558

rs_768412278

2 SubmittersRCV002254123 RCV003774755

NM_019892.6(INPP5E):c.1457G>A (p.Arg486His)

SNV
Germline

Chr9:136431916

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Joubert syndrome
INPP5E-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5336787

rs_367592401

5 SubmittersRCV003096042 RCV002266511 RCV003101507 RCV004534018 RCV004816994

NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)

SNV
Germline

Chr12:88107083

Pathogenic/Likely pathogenic

CEP290-related disorder
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385972164

rs_2137624440

3 SubmittersRCV002266544 RCV003774847 RCV004572105

NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys)

SNV
Germline

Chr8:93781717

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
6 conditions
not specified
Meckel syndrome, type 3

Criteria Provided
Conflicting Classifications

CA4807852

rs_754370463

5 SubmittersRCV002269492 RCV003774856 RCV005042769 RCV004690278 RCV005406421

NM_001134831.2(AHI1):c.2036+6T>G

SNV
Germline

Chr6:135438369

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2573130303

rs_2128037867

2 SubmittersRCV002273329 RCV005095980

NM_014704.4(CEP104):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr1:3839700

Pathogenic

Intellectual developmental disorder, autosomal recessive 77
Joubert syndrome and related disorders

Criteria Provided
Single Submitter

CA551860

rs_759675006

2 SubmittersRCV002274825 RCV005406422

NM_001308120.2(TOGARAM1):c.4150C>T (p.Gln1384Ter)

SNV
Germline

Chr14:45044866

Likely pathogenic

Joubert syndrome 37

Criteria Provided
Single Submitter

CA259618801

rs_1037051745

1 SubmittersRCV002280237

NM_001308120.2(TOGARAM1):c.2338+3A>G

SNV
Germline

Chr14:44999500

Likely pathogenic

Joubert syndrome 37

Criteria Provided
Single Submitter

CA259594012

rs_987763947

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

CA1827485

rs_752708835

3 SubmittersRCV002282819 RCV003471306 RCV003586324

NM_001382391.1(CSPP1):c.1187+1G>A

SNV
Germline

Chr8:67112066

Pathogenic/Likely pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA371196955

rs_2488871242

2 SubmittersRCV002283870

NM_001384732.1(CPLANE1):c.2846A>G (p.Tyr949Cys)

SNV
Germline

Chr5:37213633

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA359483906

rs_1287781089

2 SubmittersRCV002286942 RCV005032227

NM_015631.6(TCTN3):c.969+2T>G

SNV
Germline

Chr10:95685554

Likely pathogenic

Joubert syndrome 18

Criteria Provided
Single Submitter

CA377705903

rs_2492752964

1 SubmittersRCV002289211

NM_153704.6(TMEM67):c.333C>T (p.Gly111=)

SNV
Germline

Chr8:93758503

Conflicting classifications of pathogenicity

Atypical hemolytic-uremic syndrome
Meckel-Gruber syndrome
Joubert syndrome
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA4807603

rs_768929156

3 SubmittersRCV002294722 RCV003101704 RCV004534045

NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)

SNV
Germline

Chr1:3848733

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

CA338049238

rs_2525524684

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

CA400326114

rs_2509428356

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

CA400327733

rs_2509457459

1 SubmittersRCV002309772

NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)

SNV
Unknown

Chr17:58210674

Likely pathogenic

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

Criteria Provided
Single Submitter

CA400325969

rs_745789469

1 SubmittersRCV002308194

NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)

SNV
Unknown

Chr17:58213058

Likely pathogenic

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

Criteria Provided
Single Submitter

CA400326486

rs_1968973786

1 SubmittersRCV002308198

NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr17:58206475

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400324642

rs_2509403624

3 SubmittersRCV002309374 RCV003099156 RCV003152794

NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)

SNV
Unknown

Chr17:58213008

Likely pathogenic

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

Criteria Provided
Single Submitter

CA400326377

rs_911132717

1 SubmittersRCV002307008

NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)

SNV
Unknown

Chr17:58207109

Likely pathogenic

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

Criteria Provided
Single Submitter

CA400324844

rs_774475723

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

CA2160591

rs_752980410

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

CA283887441

rs_760455133

3 SubmittersRCV002464853 RCV003775485

NM_015631.6(TCTN3):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:95693899

Pathogenic/Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV
Joubert syndrome 18

Criteria Provided
Multiple Submitters
No Conflicts

CA377714661

rs_1046385111

2 SubmittersRCV002468883 RCV002571430

NM_014704.4(CEP104):c.2503+1G>A

SNV
Germline

Chr1:3823423

Conflicting classifications of pathogenicity

Joubert syndrome 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA551280

rs_756171105

2 SubmittersRCV002471436 RCV004823039

NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)

SNV
Germline

Chr5:37167069

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA359476894

rs_1778446608

1 SubmittersRCV002471473

NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)

SNV
Germline

Chr9:136430317

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA375561171

rs_1308391041

1 SubmittersRCV002471799

NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)

SNV
Germline

Chr4:15557388

Pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

CA356412285

rs_2475041330

1 SubmittersRCV002472136

NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala)

SNV
Germline

Chr4:15511257

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863440

rs_369902469

3 SubmittersRCV002508500 RCV004064271 RCV003775553

NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter)

SNV
Germline

ChrX:13760561

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Single Submitter

CA412344522

rs_2518940054

1 SubmittersRCV003064670

NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser)

SNV
Germline

Chr1:3826379

Conflicting classifications of pathogenicity

Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77
Joubert syndrome 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA551359

rs_533659013

3 SubmittersRCV003066721 RCV004731483 RCV004978507

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

CA4770288

rs_760349476

2 SubmittersRCV003062764 RCV003294429

NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg)

SNV
Germline

Chr16:53652790

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Single Submitter

CA281344135

rs_898062661

2 SubmittersRCV003064336 RCV004733561

NM_015272.5(RPGRIP1L):c.231-2A>G

SNV
Germline

Chr16:53692366

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395925261

rs_2544710305

1 SubmittersRCV003041255

NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu)

SNV
Germline

ChrX:13760339

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351902

rs_752808249

2 SubmittersRCV003064381 RCV005445763

NM_001134831.2(AHI1):c.2261C>T (p.Thr754Ile)

SNV
Germline

Chr6:135433032

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA365743360

rs_1784886281

2 SubmittersRCV003041276 RCV003058523

NM_024809.5(TCTN2):c.565-1G>A

SNV
Germline

Chr12:123686835

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Multiple Submitters
No Conflicts

CA387161262

rs_780032084

2 SubmittersRCV003060382 RCV005010919

NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)

SNV
Germline

Chr12:88059903

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Bardet-Biedl syndrome 14
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

CA6711460

rs_768065164

4 SubmittersRCV003062529 RCV003138466 RCV003465923 RCV005010896

NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)

SNV
Germline

Chr12:88139531

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385989259

rs_1292246271

1 SubmittersRCV003041166

NM_001384732.1(CPLANE1):c.2291+1G>A

SNV
Germline

Chr5:37226303

Likely pathogenic

Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA359494459

rs_2548575756

2 SubmittersRCV005034613 RCV003066550

NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)

SNV
Germline

Chr12:88129007

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385983943

rs_1592668925

1 SubmittersRCV003051065

NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)

SNV
Germline

ChrX:13768729

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23

Criteria Provided
Conflicting Classifications

CA10352116

rs_762218314

3 SubmittersRCV003076358 RCV004823092 RCV005045213

NM_153704.6(TMEM67):c.406+1G>A

SNV
Germline

Chr8:93758577

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA4807610

rs_759746440

1 SubmittersRCV003061040

NM_015272.5(RPGRIP1L):c.548C>T (p.Ala183Val)

SNV
Germline

Chr16:53687947

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA395924550

rs_1209593787

2 SubmittersRCV003071568 RCV005473318

NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)

SNV
Germline

Chr8:93793267

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371691389

rs_747025617

1 SubmittersRCV003053038

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

CA2056403

rs_776665329

2 SubmittersRCV003060895 RCV003155510

NM_017777.4(MKS1):c.1408-14A>G

SNV
Germline

Chr17:58206561

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA626728857

rs_1194131222

3 SubmittersRCV003086166 RCV004572762 RCV005028211

NM_017777.4(MKS1):c.859-2A>C

SNV
Germline

Chr17:58212436

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400326321

rs_1968931002

2 SubmittersRCV003070106 RCV005021541

NM_024809.5(TCTN2):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr12:123679212

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA387159306

rs_1306876740

1 SubmittersRCV003070111

NM_001378615.1(CC2D2A):c.3653G>A (p.Arg1218Gln)

SNV
Germline

Chr4:15574208

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA92519123

rs_1052251029

2 SubmittersRCV003075334 RCV003084076

NM_015272.5(RPGRIP1L):c.2332C>T (p.Gln778Ter)

SNV
Germline

Chr16:53645976

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Single Submitter

CA395914848

rs_2544109431

2 SubmittersRCV003087848 RCV004733577

NM_015272.5(RPGRIP1L):c.2683+2T>C

SNV
Germline

Chr16:53645623

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395914064

rs_2544100125

2 SubmittersRCV003072457 RCV005010973

NM_019892.6(INPP5E):c.931C>T (p.Gln311Ter)

SNV
Germline

Chr9:136434745

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375565612

rs_2131611242

1 SubmittersRCV003072588

NM_001128178.3(NPHP1):c.771+58C>T

SNV
Germline

Chr2:110164630

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1827270

rs_367600757

3 SubmittersRCV003088842 RCV003465966 RCV005412478

NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)

SNV
Germline

Chr4:15580120

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA438390588

rs_762297266

2 SubmittersRCV003086559 RCV005034686

NM_003611.3(OFD1):c.1300A>G (p.Met434Val)

SNV
Germline

ChrX:13756656

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412342682

rs_1191893961

2 SubmittersRCV002598892 RCV005455703

NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)

SNV
Germline

Chr12:88071352

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA241150553

rs_1014354752

2 SubmittersRCV002588063 RCV004536624

NM_015272.5(RPGRIP1L):c.3432+1G>A

SNV
Germline

Chr16:53622218

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395923929

rs_2150974573

2 SubmittersRCV003092388 RCV005010988

NM_025114.4(CEP290):c.5709+2T>G

SNV
Germline

Chr12:88077220

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987155

rs_2499838601

3 SubmittersRCV002585497 RCV005011021 RCV003465972

NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)

SNV
Germline

Chr12:123704671

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6861324

rs_753905088

1 SubmittersRCV002591572

NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)

SNV
Germline

Chr12:88077699

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385988009

rs_2499853126

1 SubmittersRCV002591603

NM_025114.4(CEP290):c.2217+1G>T

SNV
Germline

Chr12:88111693

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385974765

rs_2500759351

1 SubmittersRCV002602816

NM_003611.3(OFD1):c.2489-13G>A

SNV
Germline

ChrX:13763732

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Conflicting Classifications

CA10352024

rs_377737395

2 SubmittersRCV002602865 RCV005045321

NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter)

SNV
Germline

Chr8:93808921

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA371699077

rs_371452453

2 SubmittersRCV002588632 RCV005045315

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

CA389871981

rs_1238313349

1 SubmittersRCV002588660

NM_001174150.2(ARL13B):c.1210+14A>G

SNV
Germline

Chr3:94050906

Conflicting classifications of pathogenicity

Joubert syndrome 8

Criteria Provided
Conflicting Classifications

CA2504301

rs_201046342

2 SubmittersRCV002619208

NM_015272.5(RPGRIP1L):c.3512G>A (p.Arg1171Gln)

SNV
Germline

Chr16:53619129

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
RPGRIP1L-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057266

rs_141808948

4 SubmittersRCV002619225 RCV004661572 RCV004540571 RCV004593160

NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)

SNV
Germline

Chr12:110619877

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Developmental disorder
not specified

Criteria Provided
Conflicting Classifications

CA6786510

rs_765199264

3 SubmittersRCV002595613 RCV003126272 RCV004801285

NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)

SNV
Germline

Chr2:231738097

Pathogenic

Joubert syndrome 22

Criteria Provided
Single Submitter

CA2163228

rs_536550976

1 SubmittersRCV002595758

NM_001384732.1(CPLANE1):c.5263A>G (p.Asn1755Asp)

SNV
Germline

Chr5:37182918

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238585

rs_142400753

2 SubmittersRCV002606840 RCV004725549

NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)

SNV
Germline

Chr12:88118513

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385978842

rs_1475139450

2 SubmittersRCV002591896 RCV004572789

NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr16:53687954

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395924569

rs_1259684278

2 SubmittersRCV002616136 RCV005021616

NM_153704.6(TMEM67):c.576+2T>C

SNV
Germline

Chr8:93765477

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371687065

rs_2536790447

1 SubmittersRCV002625011

NM_017777.4(MKS1):c.517G>T (p.Glu173Ter)

SNV
Germline

Chr17:58214386

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400327095

rs_1969067636

1 SubmittersRCV002634218

NM_019892.6(INPP5E):c.925C>T (p.Gln309Ter)

SNV
Germline

Chr9:136434751

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA201644727

rs_568204894

1 SubmittersRCV002633928

NM_001384732.1(CPLANE1):c.9039T>C (p.Tyr3013=)

SNV
Germline

Chr5:37121763

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA117056579

rs_1030945020

2 SubmittersRCV002647922 RCV005045368

NM_015272.5(RPGRIP1L):c.1914T>A (p.Tyr638Ter)

SNV
Germline

Chr16:53652773

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395917048

rs_1444726635

1 SubmittersRCV002629315

NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)

SNV
Germline

ChrX:13761196

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Retinal dystrophy
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351984

rs_753498008

4 SubmittersRCV002625211 RCV003889261 RCV004823119 RCV005045360

NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg)

SNV
Germline

Chr3:94003751

Pathogenic

Joubert syndrome 8
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA353675505

rs_1378981995

2 SubmittersRCV002651718 RCV005239712

NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)

SNV
Germline

Chr4:15555166

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
not specified

Criteria Provided
Conflicting Classifications

CA356420697

rs_1367275342

3 SubmittersRCV002651820 RCV005028330 RCV004526968

NM_001384732.1(CPLANE1):c.3012T>A (p.Tyr1004Ter)

SNV
Germline

Chr5:37206334

Pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA359516959

rs_546670307

2 SubmittersRCV002651902 RCV005045373

NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)

SNV
Germline

Chr5:37183014

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

CA3238595

rs_769127057

1 SubmittersRCV002510321

NM_153704.6(TMEM67):c.1132-2A>G

SNV
Germline

Chr8:93785220

Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4807890

rs_777092269

2 SubmittersRCV002510413 RCV003775563

NM_153704.6(TMEM67):c.223+1G>C

SNV
Germline

Chr8:93755138

Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371685511

rs_2536753612

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

CA551594

rs_781134558

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

CA4485448

rs_139123547

3 SubmittersRCV002510731 RCV002571602

NM_025114.4(CEP290):c.853-2A>T

SNV
Germline

Chr12:88129037

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385984096

rs_2039902653

1 SubmittersRCV003106392

NM_001378615.1(CC2D2A):c.1644T>A (p.Tyr548Ter)

SNV
Germline

Chr4:15536956

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356411241

rs_1718163724

1 SubmittersRCV003117992

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

CA389863120

rs_1159793989

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

CA83593531

rs_901182419

2 SubmittersRCV003108974 RCV003111793

NM_001384732.1(CPLANE1):c.2612G>A (p.Arg871His)

SNV
Germline

Chr5:37221458

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA359489101

rs_1157919882

2 SubmittersRCV005356351 RCV003121279

NM_015272.5(RPGRIP1L):c.529+1G>A

SNV
Germline

Chr16:53692065

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395924606

rs_1386334644

1 SubmittersRCV003108351

NM_001082538.3(TCTN1):c.1104+2T>C

SNV
Germline

Chr12:110641151

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386705109

rs_1303964272

1 SubmittersRCV003108852

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

CA389879551

rs_1208252356

1 SubmittersRCV002512459

NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter)

SNV
Germline

Chr16:53610986

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395922257

rs_1964000214

2 SubmittersRCV002576155 RCV005019233

NM_015272.5(RPGRIP1L):c.2875-5C>G

SNV
Germline

Chr16:53641121

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8057428

rs_758927533

2 SubmittersRCV002572136 RCV005008612

NM_153704.6(TMEM67):c.1338T>G (p.Asp446Glu)

SNV
Germline

Chr8:93786272

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA4807933

rs_764380675

2 SubmittersRCV002579864 RCV004534121

NM_001134831.2(AHI1):c.1580C>T (p.Pro527Leu)

SNV
Germline

Chr6:135448336

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA4012564

rs_750264231

1 SubmittersRCV002574134

NM_001082538.3(TCTN1):c.822+1G>A

SNV
Germline

Chr12:110634780

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6786709

rs_374065616

1 SubmittersRCV002586667

NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)

SNV
Germline

Chr12:88086120

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711958

rs_756607245

2 SubmittersRCV002588833 RCV004534128

NM_025114.4(CEP290):c.180G>A (p.Lys60=)

SNV
Germline

Chr12:88140956

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA481055292

rs_2501849042

1 SubmittersRCV002575491

NM_001082538.3(TCTN1):c.1495-2A>G

SNV
Germline

Chr12:110647194

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386695121

rs_1475200635

1 SubmittersRCV002575567

NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)

SNV
Germline

Chr12:88130350

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385986339

rs_2039989513

1 SubmittersRCV002577501

NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)

SNV
Germline

Chr4:15570437

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA2864199

rs_767783281

2 SubmittersRCV002577667 RCV005032313

NM_003611.3(OFD1):c.2388-1G>A

SNV
Germline

ChrX:13762343

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA10352003

rs_750227810

1 SubmittersRCV002596430

NM_025114.4(CEP290):c.3461+9A>G

SNV
Germline

Chr12:88092672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606456149

rs_1301659851

2 SubmittersRCV002601022 RCV005008649

NM_017777.4(MKS1):c.1274-2A>C

SNV
Germline

Chr17:58207220

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400325073

rs_2509407984

2 SubmittersRCV002617261 RCV003475400

NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)

SNV
Germline

ChrX:13767199

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352062

rs_769469366

3 SubmittersRCV002589811 RCV004823043 RCV005042887

NM_001134831.2(AHI1):c.2081T>G (p.Leu694Ter)

SNV
Germline

Chr6:135433212

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365743747

rs_1179403052

1 SubmittersRCV002621718

NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)

SNV
Germline

Chr12:88111720

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385974872

rs_767250881

1 SubmittersRCV002635355

NM_025114.4(CEP290):c.1189+2T>C

SNV
Germline

Chr12:88125244

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385981020

rs_2501269442

2 SubmittersRCV002635356 RCV003465803

NM_024809.5(TCTN2):c.1317C>G (p.Tyr439Ter)

SNV
Germline

Chr12:123696419

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387144323

rs_1196281944

1 SubmittersRCV002622677

NM_019892.6(INPP5E):c.1368C>A (p.Asn456Lys)

SNV
Germline

Chr9:136432498

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375563270

rs_1835731335

1 SubmittersRCV002635583

NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)

SNV
Germline

Chr12:123704670

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387147836

rs_201010803

1 SubmittersRCV002635728

NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)

SNV
Germline

Chr9:26984309

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 40
IFT74-related disorder
Bardet-Biedl syndrome 22

Criteria Provided
Multiple Submitters
No Conflicts

CA373127516

rs_1391036863

4 SubmittersRCV002625958 RCV003147778 RCV004725329 RCV005254118

NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)

SNV
Germline

ChrX:13760269

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351894

rs_771742424

2 SubmittersRCV002625973 RCV004065845

NM_001378615.1(CC2D2A):c.4229G>A (p.Trp1410Ter)

SNV
Germline

Chr4:15589594

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA92527555

rs_1044009143

1 SubmittersRCV002626865

NM_001378615.1(CC2D2A):c.124-1G>C

SNV
Germline

Chr4:15480703

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA92517278

rs_949606263

1 SubmittersRCV002639091

NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)

SNV
Germline

Chr12:88083110

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6711828

rs_773390201

1 SubmittersRCV002618037

NM_015681.6(B9D1):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr17:19347282

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA398695839

rs_1462645325

1 SubmittersRCV002626749

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

SNV
Germline

Chr17:58210658

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400325934

rs_199874059

1 SubmittersRCV002650612

NM_001174150.2(ARL13B):c.59+16C>G

SNV
Germline

Chr3:93980498

Conflicting classifications of pathogenicity

Joubert syndrome 8

Criteria Provided
Conflicting Classifications

CA912658242

rs_1291271388

2 SubmittersRCV002685443

NM_019892.6(INPP5E):c.874C>T (p.Arg292Cys)

SNV
Germline

Chr9:136434802

Conflicting classifications of pathogenicity

Joubert syndrome
not specified
INPP5E-related disorder
Joubert syndrome 1
MORM syndrome

Criteria Provided
Conflicting Classifications

CA375565914

rs_753742613

4 SubmittersRCV002658142 RCV004690312 RCV004731282 RCV005042937

NM_025114.4(CEP290):c.1910-1G>A

SNV
Germline

Chr12:88114563

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385977052

rs_2500817276

2 SubmittersRCV002640094 RCV004571200

NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=)

SNV
Germline

Chr4:15480781

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Ciliopathy

Criteria Provided
Conflicting Classifications

CA356407698

rs_1714586913

2 SubmittersRCV002681822 RCV005356178

NM_001329943.3(KIAA0586):c.341-2A>G

SNV
Germline

Chr14:58432386

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

CA261634293

rs_939669886

1 SubmittersRCV002690504

NM_018718.3(CEP41):c.757+2T>A

SNV
Germline

Chr7:130400705

Likely pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

CA369287641

rs_2536052433

1 SubmittersRCV002696155

NM_001173990.3(TMEM216):c.229+1G>T

SNV
Germline

Chr11:61393977

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA380685206

rs_2135191306

1 SubmittersRCV002685979

NM_024809.5(TCTN2):c.184G>T (p.Glu62Ter)

SNV
Germline

Chr12:123671608

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387155161

rs_774994149

1 SubmittersRCV002700171

NM_003611.3(OFD1):c.2508G>A (p.Arg836=)

SNV
Germline

ChrX:13763764

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA515466785

rs_2048023499

2 SubmittersRCV002700889 RCV004529165

NM_025114.4(CEP290):c.853-2A>G

SNV
Germline

Chr12:88129037

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385984098

rs_2039902653

2 SubmittersRCV002694938 RCV003465814

NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp)

SNV
Germline

Chr16:53675017

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA395923076

rs_2544513749

2 SubmittersRCV002730165 RCV005019354

NM_017777.4(MKS1):c.1589-2A>G

SNV
Germline

Chr17:58206172

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400324332

rs_863225207

1 SubmittersRCV002730166

NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)

SNV
Germline

Chr12:123686884

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Conflicting Classifications

CA245195428

rs_201827132

2 SubmittersRCV002746738 RCV005008729

NM_001173990.3(TMEM216):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr11:61397794

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA380685869

rs_1362597973

1 SubmittersRCV002735620

NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)

SNV
Germline

Chr12:88117041

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385977982

rs_2500865968

1 SubmittersRCV002736604

NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)

SNV
Germline

Chr4:15557452

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA2864002

rs_200707391

1 SubmittersRCV002780027

NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)

SNV
Germline

Chr12:88120135

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6712550

rs_780896294

1 SubmittersRCV002790672

NM_001134831.2(AHI1):c.932-7C>T

SNV
Germline

Chr6:135457720

Conflicting classifications of pathogenicity

Joubert syndrome
AHI1-related disorder
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012706

rs_773551361

3 SubmittersRCV002766666 RCV003943496 RCV005034413

NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)

SNV
Germline

Chr11:61367933

Pathogenic

Joubert syndrome 16

Criteria Provided
Single Submitter

CA380680049

rs_2135163033

1 SubmittersRCV002785471

NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)

SNV
Germline

Chr9:136429713

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
INPP5E-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5336625

rs_763184652

4 SubmittersRCV002766810 RCV003375690 RCV004536401 RCV003130753

NM_015272.5(RPGRIP1L):c.1104-2A>G

SNV
Germline

Chr16:53665011

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA395921767

rs_2544401345

2 SubmittersRCV002756620 RCV003151418

NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)

SNV
Germline

Chr16:53687863

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA395924364

rs_1970129424

2 SubmittersRCV002756621 RCV003151419

NM_025114.4(CEP290):c.5856-2A>C

SNV
Germline

Chr12:88071451

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385984234

rs_2499731924

1 SubmittersRCV002814606

NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)

SNV
Germline

Chr12:88131203

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385986666

rs_2501544530

1 SubmittersRCV002824443

NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)

SNV
Germline

Chr12:88111762

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385975060

rs_2500763272

1 SubmittersRCV002801954

NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)

SNV
Germline

Chr12:88087905

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385999278

rs_2500065308

1 SubmittersRCV002819910

NM_025114.4(CEP290):c.441+1G>C

SNV
Germline

Chr12:88136642

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385987066

rs_1184012636

2 SubmittersRCV002815556 RCV003464604

NM_001378615.1(CC2D2A):c.1467-1G>A

SNV
Germline

Chr4:15533192

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356410819

rs_2474965141

1 SubmittersRCV002811283

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

CA389880837

rs_1272638490

1 SubmittersRCV002820645

NM_025114.4(CEP290):c.6011+2T>G

SNV
Germline

Chr12:88071292

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385983058

rs_2499726960

2 SubmittersRCV002801728 RCV003465837

NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)

SNV
Germline

Chr12:88077726

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385988116

rs_2035884532

1 SubmittersRCV002819748

NM_024809.5(TCTN2):c.1033+1G>A

SNV
Germline

Chr12:123690675

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387140357

rs_1956031029

1 SubmittersRCV002819384

NM_015272.5(RPGRIP1L):c.2683+1G>T

SNV
Germline

Chr16:53645624

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395914066

rs_2544100152

1 SubmittersRCV002824692

NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter)

SNV
Germline

Chr12:88090730

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001554

rs_2500156012

1 SubmittersRCV002802230

NM_017777.4(MKS1):c.859-2A>T

SNV
Germline

Chr17:58212436

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400326322

rs_1968931002

1 SubmittersRCV002843069

NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)

SNV
Germline

Chr12:88087917

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385999302

rs_2500066079

1 SubmittersRCV002846596

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

CA390057998

rs_2544096591

1 SubmittersRCV002871042

NM_001378615.1(CC2D2A):c.4569T>A (p.Cys1523Ter)

SNV
Germline

Chr4:15599601

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356434011

rs_1721486976

1 SubmittersRCV002834944

NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)

SNV
Germline

Chr8:67163757

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4770901

rs_766529852

1 SubmittersRCV002851901

NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter)

SNV
Germline

ChrX:13762351

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412345169

rs_2518959653

1 SubmittersRCV002862271

NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)

SNV
Germline

Chr8:67158471

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371188407

rs_867666521

1 SubmittersRCV002833541

NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)

SNV
Germline

Chr14:58490186

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

CA389883379

rs_2543724955

1 SubmittersRCV002833576

NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr17:58208563

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400325879

rs_1968675432

2 SubmittersRCV002842575 RCV003475433

NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)

SNV
Germline

Chr12:88080271

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385991178

rs_2499910206

1 SubmittersRCV002862014

NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr12:88129729

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385984355

rs_1592671313

1 SubmittersRCV002816434

NM_015272.5(RPGRIP1L):c.511C>T (p.Gln171Ter)

SNV
Germline

Chr16:53692084

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA281375111

rs_866067386

1 SubmittersRCV002838207

NM_024809.5(TCTN2):c.1436T>G (p.Leu479Ter)

SNV
Germline

Chr12:123697129

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387144873

rs_1216783170

1 SubmittersRCV002856308

NM_001378615.1(CC2D2A):c.4065+1G>A

SNV
Germline

Chr4:15586247

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356428583

rs_1472068665

1 SubmittersRCV002861502

NM_025114.4(CEP290):c.4194+1G>C

SNV
Germline

Chr12:88087779

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385998806

rs_1306782857

1 SubmittersRCV002857633

NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)

SNV
Germline

Chr12:88092691

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386003759

rs_2500228774

1 SubmittersRCV002889123

NM_001382391.1(CSPP1):c.1188-2A>G

SNV
Germline

Chr8:67113803

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371197518

rs_1162635365

1 SubmittersRCV002880859

NM_025114.4(CEP290):c.442-1G>A

SNV
Germline

Chr12:88131219

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385986700

rs_2040047006

2 SubmittersRCV002880883 RCV005002894

NM_001134831.2(AHI1):c.3426+2T>C

SNV
Germline

Chr6:135318517

Likely pathogenic

Joubert syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA148533165

rs_893650468

2 SubmittersRCV002881396 RCV003492784

NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)

SNV
Germline

Chr12:88080310

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385991339

rs_2499911272

3 SubmittersRCV002857203 RCV003465849 RCV005608794

NM_001378615.1(CC2D2A):c.3820C>T (p.Gln1274Ter)

SNV
Germline

Chr4:15580016

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356425678

rs_2475106059

1 SubmittersRCV002853305

NM_001134831.2(AHI1):c.2493-1G>T

SNV
Germline

Chr6:135428760

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365742450

rs_1178479782

1 SubmittersRCV002866503

NM_017777.4(MKS1):c.959-1G>A

SNV
Germline

Chr17:58210725

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400326086

rs_2509426428

1 SubmittersRCV002894018

NM_001382391.1(CSPP1):c.100-2A>C

SNV
Germline

Chr8:67076480

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371212003

rs_2488284751

1 SubmittersRCV002876211

NM_001378615.1(CC2D2A):c.1466+1G>A

SNV
Germline

Chr4:15528727

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA356410813

rs_2474955286

2 SubmittersRCV002862483 RCV004526208

NM_001044385.3(TMEM237):c.396-2A>G

SNV
Germline

Chr2:201632210

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA350313565

rs_2105900297

1 SubmittersRCV002862535

NM_001173990.3(TMEM216):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr11:61397872

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA222898198

rs_968023665

1 SubmittersRCV002875745

NM_015272.5(RPGRIP1L):c.3160G>T (p.Glu1054Ter)

SNV
Germline

Chr16:53637755

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA281369229

rs_987737814

1 SubmittersRCV002875788

NM_015272.5(RPGRIP1L):c.3067C>T (p.Gln1023Ter)

SNV
Germline

Chr16:53637848

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395926467

rs_1483413866

1 SubmittersRCV002847855

NM_025114.4(CEP290):c.1065+1G>A

SNV
Germline

Chr12:88126315

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385982540

rs_2138021203

1 SubmittersRCV002867991

NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)

SNV
Germline

Chr14:58512618

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

CA390058227

rs_1425019451

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

CA377714653

rs_373479905

1 SubmittersRCV002889728

NM_017777.4(MKS1):c.1490+1G>T

SNV
Germline

Chr17:58206464

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400324618

rs_2143737350

1 SubmittersRCV002867793

NM_001174150.2(ARL13B):c.538A>T (p.Lys180Ter)

SNV
Germline

Chr3:94036603

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

CA353678214

rs_767905644

1 SubmittersRCV002894458

NM_153704.6(TMEM67):c.157C>T (p.Gln53Ter)

SNV
Germline

Chr8:93755071

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371685364

rs_1188649369

1 SubmittersRCV002894619

NM_001382391.1(CSPP1):c.3221-1G>A

SNV
Germline

Chr8:67190649

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4771109

rs_377059283

1 SubmittersRCV002877521

NM_024809.5(TCTN2):c.765-1G>A

SNV
Germline

Chr12:123688050

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387137339

rs_1191280597

1 SubmittersRCV002899586

NM_025114.4(CEP290):c.2992-2A>C

SNV
Germline

Chr12:88097001

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386007296

rs_2037480406

1 SubmittersRCV002912647

NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)

SNV
Germline

Chr12:88089340

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000850

rs_2500113822

2 SubmittersRCV002885198 RCV004571420

NM_001378615.1(CC2D2A):c.676G>T (p.Glu226Ter)

SNV
Germline

Chr4:15511382

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356409013

rs_1716561509

1 SubmittersRCV002899402

NM_025114.4(CEP290):c.2587-1G>T

SNV
Germline

Chr12:88106906

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385971663

rs_1247861318

2 SubmittersRCV002894942 RCV003465862

NM_015681.6(B9D1):c.460G>T (p.Glu154Ter)

SNV
Germline

Chr17:19343802

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA398694698

rs_1908307291

1 SubmittersRCV002903368

NM_019892.6(INPP5E):c.1156T>C (p.Ser386Pro)

SNV
Germline

Chr9:136433158

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375564147

rs_771866083

1 SubmittersRCV002917189

NM_001174150.2(ARL13B):c.1141+1G>A

SNV
Germline

Chr3:94049523

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA353679582

rs_2107192097

2 SubmittersRCV002919045

NM_001077418.3(TMEM231):c.-37G>A

SNV
Germline

Chr16:75556246

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

CA2233425221

rs_905065417

1 SubmittersRCV002927914

NM_001134831.2(AHI1):c.2961+1G>A

SNV
Germline

Chr6:135411347

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845764

rs_1781562565

1 SubmittersRCV002904493

NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)

SNV
Germline

Chr6:135300545

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012000

rs_763126846

2 SubmittersRCV002947355 RCV003170602

NM_015272.5(RPGRIP1L):c.883-20A>G

SNV
Germline

Chr16:53673036

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8057984

rs_781088450

2 SubmittersRCV002958733 RCV005010817

NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)

SNV
Germline

Chr1:3848732

Pathogenic/Likely pathogenic

Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77
Joubert syndrome 25

Criteria Provided
Multiple Submitters
No Conflicts

CA552033

rs_757772764

2 SubmittersRCV002962717 RCV005028074

NM_025114.4(CEP290):c.102+2T>A

SNV
Germline

Chr12:88141204

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385990065

rs_763226787

2 SubmittersRCV002952940 RCV003465871

NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)

SNV
Germline

Chr17:58208534

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400325823

rs_1411471923

3 SubmittersRCV002962499 RCV003475458 RCV005019515

NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)

SNV
Germline

Chr4:15527458

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA438382572

rs_1717568150

2 SubmittersRCV002974839 RCV005028066

NM_001378615.1(CC2D2A):c.337-2A>C

SNV
Germline

Chr4:15502820

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356408234

rs_1323514351

3 SubmittersRCV002967622 RCV003491181

NM_001134831.2(AHI1):c.1553G>A (p.Trp518Ter)

SNV
Germline

Chr6:135448363

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365745262

rs_2484787497

1 SubmittersRCV002967842

NM_001134831.2(AHI1):c.2773C>T (p.Gln925Ter)

SNV
Germline

Chr6:135411536

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365846239

rs_2484272408

1 SubmittersRCV002976426

NM_003611.3(OFD1):c.2928+7G>A

SNV
Germline

ChrX:13768231

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA326115577

rs_912239987

2 SubmittersRCV003002712 RCV005045149

NM_001382391.1(CSPP1):c.1828-1G>C

SNV
Germline

Chr8:67137455

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371205187

rs_2489231450

1 SubmittersRCV002996306

NM_001134831.2(AHI1):c.3110-1G>A

SNV
Germline

Chr6:135358188

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365840960

rs_2483589449

1 SubmittersRCV002995501

NM_015272.5(RPGRIP1L):c.2003T>A (p.Leu668Ter)

SNV
Germline

Chr16:53652684

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395916864

rs_2544205707

1 SubmittersRCV003025517

NM_025114.4(CEP290):c.6270+2T>C

SNV
Germline

Chr12:88063979

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385979504

rs_2499616926

2 SubmittersRCV003010340 RCV003465892

NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter)

SNV
Germline

Chr12:88106755

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385970987

rs_2500616179

1 SubmittersRCV003016859

NM_025114.4(CEP290):c.1711+2T>A

SNV
Germline

Chr12:88118481

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385978693

rs_2500935910

1 SubmittersRCV003018225

NM_001378615.1(CC2D2A):c.2004-1G>A

SNV
Germline

Chr4:15540836

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356412067

rs_1484983836

1 SubmittersRCV002991380

NM_025114.4(CEP290):c.6818+2T>C

SNV
Germline

Chr12:88058846

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385977135

rs_2499527666

1 SubmittersRCV003021281

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

SNV
Germline

Chr16:53696150

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395925687

rs_786204135

1 SubmittersRCV003012502

NM_024809.5(TCTN2):c.83-2A>G

SNV
Germline

Chr12:123671505

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387154956

rs_2541746254

1 SubmittersRCV003002956

NM_025114.4(CEP290):c.5227-2A>G

SNV
Germline

Chr12:88079231

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6711755

rs_367676646

1 SubmittersRCV003009980

NM_153704.6(TMEM67):c.869+1G>C

SNV
Germline

Chr8:93780748

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA371688126

rs_773594502

2 SubmittersRCV003018654 RCV005050690

NM_017777.4(MKS1):c.190+1G>A

SNV
Germline

Chr17:58218619

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA8669631

rs_745518012

2 SubmittersRCV003017585 RCV003475472

NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)

SNV
Germline

Chr12:88055698

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related ciliopathy
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385976655

rs_2499472817

3 SubmittersRCV003043024 RCV003250703 RCV003465904

NM_015272.5(RPGRIP1L):c.1350+1G>T

SNV
Germline

Chr16:53658771

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA8057839

rs_761435025

1 SubmittersRCV003028641

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

CA7206380

rs_773507064

1 SubmittersRCV003029236

NM_015272.5(RPGRIP1L):c.734T>G (p.Leu245Ter)

SNV
Germline

Chr16:53686475

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395923815

rs_2544638776

1 SubmittersRCV003045681

NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)

SNV
Germline

Chr12:88087850

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385999153

rs_2500060132

1 SubmittersRCV003023897

NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)

SNV
Germline

Chr8:93758499

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA181306950

rs_1014876003

1 SubmittersRCV003026877

NM_024809.5(TCTN2):c.268-2A>G

SNV
Germline

Chr12:123673613

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA387156659

rs_2541751074

1 SubmittersRCV003034650

NM_001378615.1(CC2D2A):c.436G>T (p.Glu146Ter)

SNV
Germline

Chr4:15502921

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356408449

rs_2474890606

1 SubmittersRCV003026910

NM_001378615.1(CC2D2A):c.2625+9C>G

SNV
Germline

Chr4:15555219

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA549892424

rs_1167453314

2 SubmittersRCV003054350 RCV005028127

NM_015272.5(RPGRIP1L):c.325G>T (p.Glu109Ter)

SNV
Germline

Chr16:53692270

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395925069

rs_2544707873

1 SubmittersRCV003059450

NM_025114.4(CEP290):c.250+1G>A

SNV
Germline

Chr12:88139494

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385988999

rs_2501800454

1 SubmittersRCV003055318

NM_001378615.1(CC2D2A):c.3505G>T (p.Glu1169Ter)

SNV
Germline

Chr4:15570407

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356421625

rs_890421496

1 SubmittersRCV003047791

NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)

SNV
Germline

Chr12:88080261

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711786

rs_771864158

3 SubmittersRCV003055543 RCV004733557 RCV003459714

NM_024809.5(TCTN2):c.82+1G>T

SNV
Germline

Chr12:123671323

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA387154949

rs_2541745804

1 SubmittersRCV003035367

NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)

SNV
Germline

Chr12:88059005

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385977837

rs_2034243912

1 SubmittersRCV003039923

NM_001134831.2(AHI1):c.3289C>T (p.Gln1097Ter)

SNV
Germline

Chr6:135323201

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845518

rs_1457793607

1 SubmittersRCV003046624

NM_017777.4(MKS1):c.17G>A (p.Trp6Ter)

SNV
Germline

Chr17:58219214

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA400328229

rs_2509469673

1 SubmittersRCV003024439

NM_025114.4(CEP290):c.3574-1G>A

SNV
Germline

Chr12:88089488

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386001420

rs_2500121878

2 SubmittersRCV003059556 RCV004572641

NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)

SNV
Germline

Chr8:67093600

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371189092

rs_2488603690

1 SubmittersRCV003057104

NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter)

SNV
Germline

ChrX:13760203

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Single Submitter

CA412343725

rs_983722470

1 SubmittersRCV003055752

NM_153704.6(TMEM67):c.2326T>G (p.Ser776Ala)

SNV
Germline

Chr8:93804765

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371697878

rs_748937483

1 SubmittersRCV003044661

NM_001134831.2(AHI1):c.940A>G (p.Asn314Asp)

SNV
Germline

Chr6:135457705

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365748032

rs_1789198105

2 SubmittersRCV003052376 RCV003294402

NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)

SNV
Germline

ChrX:13767174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352059

rs_149790559

3 SubmittersRCV004081054 RCV003777590 RCV005045378

NM_024809.5(TCTN2):c.1007C>T (p.Ala336Val)

SNV
Germline

Chr12:123690648

Conflicting classifications of pathogenicity

Inborn genetic diseases
Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Conflicting Classifications

CA6861063

rs_747135310

2 SubmittersRCV002986348 RCV005011165

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

CA7002152

rs_376306777

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

CA395924803

rs_2544705725

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

CA359497320

rs_1796511689

1 SubmittersRCV003123522

NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)

SNV
Germline

Chr12:88053700

Pathogenic/Likely pathogenic

CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA241147106

rs_878896889

3 SubmittersRCV003123526 RCV003466017 RCV003778673

NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)

SNV
Germline

Chr4:15589595

Likely pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

CA356429675

rs_2475127881

1 SubmittersRCV003128098

NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly)

SNV
Germline

Chr8:93758499

Pathogenic/Likely pathogenic

TMEM67-related disorder
Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA371685766

rs_1014876003

3 SubmittersRCV003315267 RCV003778693 RCV005047427

NM_003611.3(OFD1):c.2778G>T (p.Leu926=)

SNV
Germline

ChrX:13768074

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA515457490

rs_2518998297

3 SubmittersRCV003133109 RCV004636716 RCV003778738

NM_001382391.1(CSPP1):c.3330+2T>C

SNV
Germline

Chr8:67190761

Conflicting classifications of pathogenicity

Joubert syndrome 21

Criteria Provided
Conflicting Classifications

CA4771130

rs_527372531

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

CA365744237

rs_1221909332

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

CA353675123

rs_1710156502

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

CA1317575

rs_749131549

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

CA348089319

rs_564605452

2 SubmittersRCV003155856 RCV003466028

NM_014704.4(CEP104):c.1144C>G (p.Arg382Gly)

SNV
Germline

Chr1:3836668

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Conflicting Classifications

CA17084804

rs_374824835

2 SubmittersRCV003185262 RCV004731516

NM_014804.3(KIAA0753):c.2333T>C (p.Met778Thr)

SNV
Germline

Chr17:6596183

Likely pathogenic

Joubert syndrome 38

Criteria Provided
Single Submitter

CA8330194

rs_750740421

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

CA353679210

rs_2472122003

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

CA395924311

rs_2544640834

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

CA359506905

rs_2548609966

1 SubmittersRCV003226844

NM_025114.4(CEP290):c.2992-1G>T

SNV
Germline

Chr12:88097000

Likely pathogenic

CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386007291

rs_2037480294

2 SubmittersRCV003226856 RCV005003038

NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)

SNV
Germline

Chr10:73232994

Likely pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

CA209591110

rs_144804269

1 SubmittersRCV003233410

NM_003611.3(OFD1):c.2758-2A>T

SNV
Germline

ChrX:13768052

Conflicting classifications of pathogenicity

not specified
OFD1-related disorder
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA412312310

rs_1254987046

3 SubmittersRCV003317841 RCV004529622 RCV005216045

NM_025114.4(CEP290):c.3574-2A>G

SNV
Germline

Chr12:88089489

Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA386001425

rs_2500121943

3 SubmittersRCV003327795 RCV004572932 RCV003777371

NM_153704.6(TMEM67):c.1771A>G (p.Lys591Glu)

SNV
Germline

Chr8:93795505

Likely pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA371692500

rs_2130727900

1 SubmittersRCV003331567

NM_001082538.3(TCTN1):c.1494+2T>C

SNV
Germline

Chr12:110645131

Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA386705991

rs_2067211703

2 SubmittersRCV003331775 RCV005228001

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

CA359495643

rs_2546640992

2 SubmittersRCV003331844 RCV003561305

NM_153704.6(TMEM67):c.2323-2A>G

SNV
Germline

Chr8:93804760

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA4808277

rs_752611698

1 SubmittersRCV003332932

NM_001134831.2(AHI1):c.2266+1G>A

SNV
Germline

Chr6:135433026

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA4012413

rs_774144071

1 SubmittersRCV003335818

NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)

SNV
Germline

ChrX:13760432

Likely pathogenic

Joubert syndrome 10

No Assertion Criteria Provided

CA412344239

rs_2518939102

1 SubmittersRCV003337711

NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr)

SNV
Germline

Chr4:15478802

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2863255

rs_780010340

2 SubmittersRCV003371809 RCV003778059

NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)

SNV
Germline

Chr8:93765414

Conflicting classifications of pathogenicity

Joubert syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA371686823

rs_750950408

3 SubmittersRCV003397210 RCV003778173 RCV004697291

NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)

SNV
Germline

Chr5:37227368

Pathogenic/Likely pathogenic

CPLANE1-related disorder
Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117058157

rs_201292596

3 SubmittersRCV003406250 RCV005036782 RCV003575089

NM_014704.4(CEP104):c.895C>T (p.Arg299Ter)

SNV
Germline

Chr1:3837516

Likely pathogenic

CEP104-related disorder
Intellectual developmental disorder, autosomal recessive 77
Joubert syndrome 25

Criteria Provided
Multiple Submitters
No Conflicts

CA551770

rs_778850368

2 SubmittersRCV003418846 RCV005030023

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

CA396804611

rs_1481891893

2 SubmittersRCV003402990 RCV003988892

NM_001384732.1(CPLANE1):c.7588+3A>G

SNV
Germline

Chr5:37164270

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA1075119173

rs_1777654334

1 SubmittersRCV003444088

NM_001329943.3(KIAA0586):c.887A>G (p.Tyr296Cys)

SNV
Germline

Chr14:58448419

Likely pathogenic

Joubert syndrome 23

Criteria Provided
Single Submitter

CA7205505

rs_762905862

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

CA348087698

rs_1193790186

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

CA348094061

rs_1454994826

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

CA348093727

rs_1327440899

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

CA348086927

rs_1559043866

1 SubmittersRCV003471531

NM_001128178.3(NPHP1):c.625-2A>G

SNV
Unknown

Chr2:110165157

Pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348092489

rs_2467374890

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

CA1827178

rs_369977541

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

CA348092070

rs_1482624366

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

CA348087770

rs_2467252177

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

CA348087778

rs_2467252243

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

CA348090062

rs_2467344481

1 SubmittersRCV003471541

NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr2:110201437

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348094090

rs_2467599617

3 SubmittersRCV003463185 RCV005021980 RCV003586427

NM_001128178.3(NPHP1):c.1084-2A>C

SNV
Unknown

Chr2:110150258

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348088203

rs_2467273765

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

CA1826936

rs_774810198

1 SubmittersRCV003463186

NM_001128178.3(NPHP1):c.771+124C>T

SNV
Germline

Chr2:110164564

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA348091677

rs_1210552017

2 SubmittersRCV003748497 RCV003471545

NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)

SNV
Unknown

Chr2:110125674

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348086733

rs_2467132150

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

CA348087591

rs_2467251149

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

CA348094232

rs_1336978749

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

CA348090606

rs_2467354598

1 SubmittersRCV003471549

NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)

SNV
Unknown

Chr11:61393282

Likely pathogenic

Joubert syndrome 2

Criteria Provided
Single Submitter

CA380684639

rs_2539891669

1 SubmittersRCV003466449

NM_001173990.3(TMEM216):c.229+1G>C

SNV
Unknown

Chr11:61393977

Likely pathogenic

Joubert syndrome 2

Criteria Provided
Single Submitter

CA380685205

rs_2135191306

1 SubmittersRCV003466450

NM_001173990.3(TMEM216):c.34+1G>A

SNV
Unknown

Chr11:61392666

Likely pathogenic

Joubert syndrome 2

Criteria Provided
Single Submitter

CA380684521

rs_2539890521

1 SubmittersRCV003464694

NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)

SNV
Unknown

Chr11:61393308

Likely pathogenic

Joubert syndrome 2

Criteria Provided
Single Submitter

CA380684699

rs_1858720964

1 SubmittersRCV003464696

NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)

SNV
Germline

Chr12:88126342

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385982705

rs_1411950710

2 SubmittersRCV003779151 RCV003460391

NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)

SNV
Germline

Chr12:88089322

Likely pathogenic

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712094

rs_758878983

2 SubmittersRCV003466685 RCV005012981

NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)

SNV
Germline

Chr12:88083100

Likely pathogenic

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385992803

rs_2499957266

2 SubmittersRCV003466687 RCV005012982

NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)

SNV
Germline

Chr12:88111767

Pathogenic

Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385975083

rs_1231122388

2 SubmittersRCV003466697 RCV003779152

NM_025114.4(CEP290):c.7209+1G>A

SNV
Germline

Chr12:88050353

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385973593

rs_1420974027

2 SubmittersRCV003779153 RCV003466700

NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)

SNV
Germline

Chr12:88089325

Likely pathogenic

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000812

rs_2500112760

2 SubmittersRCV003466716 RCV005003647

NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)

SNV
Germline

Chr12:88092724

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386004066

rs_766095901

2 SubmittersRCV005216120 RCV003466717

NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)

SNV
Germline

Chr12:88083146

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385992903

rs_1159120623

2 SubmittersRCV003779155 RCV003466718

NM_025114.4(CEP290):c.6270+1G>T

SNV
Germline

Chr12:88063980

Likely pathogenic

Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385979508

rs_1237799214

2 SubmittersRCV003466737 RCV003779156

NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)

SNV
Germline

Chr12:88107013

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385971769

rs_1168542133

3 SubmittersRCV003466742 RCV005003648 RCV003779157

NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)

SNV
Germline

Chr12:88083164

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA241156795

rs_868148490

2 SubmittersRCV003466746 RCV003779158

NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)

SNV
Germline

Chr12:88089073

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA386000189

rs_1285349002

2 SubmittersRCV003466759 RCV003779160

NM_015202.5(KATNIP):c.3632-1G>C

SNV
Germline

Chr16:27761412

Likely pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

CA395329007

rs_2543369039

1 SubmittersRCV003493233

NM_006346.4(PIBF1):c.1731-1G>A

SNV
Germline

Chr13:72931164

Likely pathogenic

Joubert syndrome 33

Criteria Provided
Single Submitter

CA388345162

rs_2041684401

1 SubmittersRCV003493336

NM_019892.6(INPP5E):c.1280-2A>C

SNV
Germline

Chr9:136432588

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375563709

rs_2538876210

1 SubmittersRCV003496200

NM_019892.6(INPP5E):c.1888C>T (p.Gln630Ter)

SNV
Germline

Chr9:136429722

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375560106

rs_2538869652

1 SubmittersRCV003496135

NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)

SNV
Germline

Chr6:135433138

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365743594

rs_2484604421

1 SubmittersRCV003495404

NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter)

SNV
Germline

Chr6:135447127

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA148132326

rs_933648254

2 SubmittersRCV003496467 RCV005047650

NM_001134831.2(AHI1):c.2282C>G (p.Ser761Ter)

SNV
Germline

Chr6:135431299

Pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365743298

rs_794727174

2 SubmittersRCV003496547 RCV005402043

NM_001134831.2(AHI1):c.1255G>T (p.Glu419Ter)

SNV
Germline

Chr6:135455823

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365746547

rs_2484882747

1 SubmittersRCV003496449

NM_001134831.2(AHI1):c.2884C>T (p.Gln962Ter)

SNV
Germline

Chr6:135411425

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845997

rs_2484269420

1 SubmittersRCV003497135

NM_001134831.2(AHI1):c.1779+1G>A

SNV
Germline

Chr6:135447007

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA4012524

rs_753655744

1 SubmittersRCV003497333

NM_001173990.3(TMEM216):c.230-16G>A

SNV
Germline

Chr11:61397758

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Conflicting Classifications

CA6034728

rs_762030694

2 SubmittersRCV003494912 RCV005051345

NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)

SNV
Germline

Chr6:135433126

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365743567

rs_761245375

1 SubmittersRCV003494843

NM_001134831.2(AHI1):c.1526T>A (p.Leu509Ter)

SNV
Germline

Chr6:135448390

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA4012572

rs_41288021

1 SubmittersRCV003494829

NM_001134831.2(AHI1):c.3166-1G>T

SNV
Germline

Chr6:135323325

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845896

rs_2483268122

1 SubmittersRCV003494809

NM_001134831.2(AHI1):c.1500C>G (p.Tyr500Ter)

SNV
Germline

Chr6:135448416

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365745490

rs_769742563

1 SubmittersRCV003495721

NM_018718.3(CEP41):c.98-2A>G

SNV
Germline

Chr7:130416968

Likely pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

CA369284685

rs_1797356889

1 SubmittersRCV003529792

NM_001128178.3(NPHP1):c.522+1G>A

SNV
Germline

Chr2:110169805

Likely pathogenic

Nephronophthisis
NPHP1-related disorder
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA348092775

rs_2467403268

3 SubmittersRCV003587865 RCV004579619 RCV005014801

NM_001134831.2(AHI1):c.2748T>G (p.Tyr916Ter)

SNV
Germline

Chr6:135427183

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365740890

rs_2484504701

1 SubmittersRCV003496753

NM_001173990.3(TMEM216):c.136+2T>G

SNV
Germline

Chr11:61393334

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA380684761

rs_2539891739

1 SubmittersRCV003496057

NM_019892.6(INPP5E):c.1740G>C (p.Lys580Asn)

SNV
Germline

Chr9:136430339

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA375561240

rs_2538870842

1 SubmittersRCV003496595

NM_001384732.1(CPLANE1):c.8632+1G>A

SNV
Germline

Chr5:37142309

Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA359472522

rs_2547067845

2 SubmittersRCV003666341 RCV005036913

NM_001134831.2(AHI1):c.11-1G>C

SNV
Germline

Chr6:135490748

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365741453

rs_2485337123

1 SubmittersRCV003598302

NM_001134831.2(AHI1):c.216C>T (p.Pro72=)

SNV
Germline

Chr6:135466347

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA452430637

rs_1434415693

2 SubmittersRCV003598387 RCV005036917

NM_001134831.2(AHI1):c.2764+2T>C

SNV
Germline

Chr6:135427165

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365740740

rs_1419492897

1 SubmittersRCV003599239

NM_001382391.1(CSPP1):c.483+2T>A

SNV
Germline

Chr8:67093643

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371189541

rs_1161610345

1 SubmittersRCV003744165

NM_001134831.2(AHI1):c.1779+1G>T

SNV
Germline

Chr6:135447007

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365744704

rs_753655744

2 SubmittersRCV003599192 RCV005254855

NM_001134831.2(AHI1):c.523G>T (p.Glu175Ter)

SNV
Germline

Chr6:135466040

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365751478

rs_751749918

1 SubmittersRCV003599268

NM_001173990.3(TMEM216):c.137-2A>C

SNV
Germline

Chr11:61393882

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA380685015

rs_1858735439

1 SubmittersRCV003599323

NM_001134831.2(AHI1):c.2624-2A>G

SNV
Germline

Chr6:135427309

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365741501

rs_2484508005

1 SubmittersRCV003599248

NM_001134831.2(AHI1):c.856G>T (p.Glu286Ter)

SNV
Germline

Chr6:135463200

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365749115

rs_894830970

1 SubmittersRCV003599378

NM_001134831.2(AHI1):c.3110-2A>G

SNV
Germline

Chr6:135358189

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA4012109

rs_758715635

1 SubmittersRCV003599617

NM_001134831.2(AHI1):c.750-2A>G

SNV
Germline

Chr6:135463308

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365749652

rs_2484977012

1 SubmittersRCV003599409

NM_001382391.1(CSPP1):c.1022+1G>C

SNV
Germline

Chr8:67103136

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371194061

rs_2129547115

1 SubmittersRCV003744422

NM_001134831.2(AHI1):c.1034T>A (p.Leu345Ter)

SNV
Germline

Chr6:135457611

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365747827

rs_2484906480

1 SubmittersRCV003599675

NM_001134831.2(AHI1):c.1777C>T (p.Gln593Ter)

SNV
Germline

Chr6:135447010

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365744711

rs_1480087006

1 SubmittersRCV003599771

NM_001134831.2(AHI1):c.2989-2A>T

SNV
Germline

Chr6:135394898

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365843928

rs_2128485171

1 SubmittersRCV003599666

NM_001134831.2(AHI1):c.3180T>A (p.Tyr1060Ter)

SNV
Germline

Chr6:135323310

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845841

rs_2483267737

1 SubmittersRCV003599841

NM_001128178.3(NPHP1):c.1269+15A>G

SNV
Germline

Chr2:110147901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2739271182

rs_2467258975

2 SubmittersRCV005014875 RCV003747887

NM_001134831.2(AHI1):c.750-1G>A

SNV
Germline

Chr6:135463307

Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365749644

rs_2484976975

2 SubmittersRCV003597671 RCV005036950

NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)

SNV
Germline

Chr8:67095662

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371191411

rs_1563541637

1 SubmittersRCV003743175

NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)

SNV
Germline

Chr8:67154101

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371187975

rs_2129559063

1 SubmittersRCV003743198

NM_001134831.2(AHI1):c.2295A>G (p.Thr765=)

SNV
Germline

Chr6:135431286

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA452213531

rs_1171943827

2 SubmittersRCV003597615 RCV005036946

NM_001134831.2(AHI1):c.2042G>A (p.Trp681Ter)

SNV
Germline

Chr6:135433251

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365743840

rs_1236041314

1 SubmittersRCV003597695

NM_001134831.2(AHI1):c.1152-19A>G

SNV
Germline

Chr6:135455945

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA2519695259

rs_2484885417

2 SubmittersRCV003597940 RCV005036980

NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter)

SNV
Germline

Chr6:135300554

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA148531303

rs_982379114

2 SubmittersRCV003597811 RCV005036959

NM_001173990.3(TMEM216):c.137-17G>A

SNV
Germline

Chr11:61393867

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Conflicting Classifications

CA6034705

rs_747600105

2 SubmittersRCV003598612 RCV005051375

NM_001134831.2(AHI1):c.2929C>T (p.Gln977Ter)

SNV
Germline

Chr6:135411380

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845887

rs_1307676365

1 SubmittersRCV003598590

NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter)

SNV
Germline

Chr6:135394797

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365843599

rs_2484034993

2 SubmittersRCV003598810 RCV005038502

NM_015272.5(RPGRIP1L):c.3616+2T>C

SNV
Germline

Chr16:53619023

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395923317

rs_2543788281

1 SubmittersRCV003785479

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

CA389877314

rs_2543375994

1 SubmittersRCV003785490

NM_001082538.3(TCTN1):c.1332-1G>C

SNV
Germline

Chr12:110644966

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386705630

rs_2548929536

1 SubmittersRCV003785532

NM_001378615.1(CC2D2A):c.1801G>T (p.Glu601Ter)

SNV
Germline

Chr4:15537935

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356411611

rs_1469975894

1 SubmittersRCV003784024

NM_001378615.1(CC2D2A):c.1105C>T (p.Gln369Ter)

SNV
Germline

Chr4:15516712

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356409989

rs_1716895762

1 SubmittersRCV003784171

NM_001378615.1(CC2D2A):c.79C>T (p.Gln27Ter)

SNV
Germline

Chr4:15478762

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356407150

rs_2474823203

1 SubmittersRCV003784248

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

CA377714501

rs_1262446492

1 SubmittersRCV003784362

NM_153704.6(TMEM67):c.1066-1G>A

SNV
Germline

Chr8:93782394

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371689029

rs_1813878286

1 SubmittersRCV003782186

NM_153704.6(TMEM67):c.407-1G>T

SNV
Germline

Chr8:93763841

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371686273

rs_2536784373

1 SubmittersRCV003782193

NM_015272.5(RPGRIP1L):c.3433-1G>A

SNV
Germline

Chr16:53619209

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395923717

rs_1241312606

1 SubmittersRCV003782257

NM_001378615.1(CC2D2A):c.2830-1G>A

SNV
Germline

Chr4:15559164

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356412560

rs_2475046362

1 SubmittersRCV003782411

NM_001378615.1(CC2D2A):c.4654A>T (p.Lys1552Ter)

SNV
Germline

Chr4:15599686

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356434648

rs_2148496033

1 SubmittersRCV003782440

NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)

SNV
Germline

Chr12:88120170

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA385979889

rs_1340148485

2 SubmittersRCV003797790 RCV005407252

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

CA389859340

rs_765227931

1 SubmittersRCV003795784

NM_024809.5(TCTN2):c.891+1G>A

SNV
Germline

Chr12:123688178

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA387137724

rs_2541775874

1 SubmittersRCV003795943

NM_015272.5(RPGRIP1L):c.3593G>A (p.Trp1198Ter)

SNV
Germline

Chr16:53619048

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395923381

rs_1598241401

1 SubmittersRCV003782798

NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)

SNV
Germline

Chr12:88093770

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA481077248

rs_2500269301

1 SubmittersRCV003782818

NM_153704.6(TMEM67):c.754A>G (p.Met252Val)

SNV
Germline

Chr8:93780632

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371687773

rs_2536841703

1 SubmittersRCV003782916

NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)

SNV
Germline

Chr12:88080316

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385991360

rs_2499911513

1 SubmittersRCV003785277

NM_015681.6(B9D1):c.342-1G>T

SNV
Germline

Chr17:19347332

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA398695971

rs_1908964770

1 SubmittersRCV003780621

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

CA389864303

rs_2542905627

1 SubmittersRCV003783215

NM_001378615.1(CC2D2A):c.2116C>T (p.Arg706Ter)

SNV
Germline

Chr4:15540949

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356413762

rs_1189294231

1 SubmittersRCV003783253

NM_025114.4(CEP290):c.3309+16T>G

SNV
Germline

Chr12:88093754

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606675736

rs_1400483491

2 SubmittersRCV003781036 RCV005013180

NM_153704.6(TMEM67):c.1285C>T (p.Gln429Ter)

SNV
Germline

Chr8:93785375

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA4807912

rs_371672760

2 SubmittersRCV003781091 RCV005040502

NM_153704.6(TMEM67):c.1413-1G>A

SNV
Germline

Chr8:93787843

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371689944

rs_386834185

1 SubmittersRCV003781092

NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)

SNV
Germline

Chr8:93797388

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371693690

rs_2536904460

1 SubmittersRCV003781093

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

SNV
Germline

Chr8:93808957

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371699154

rs_786200867

1 SubmittersRCV003781095

NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)

SNV
Germline

Chr8:93815419

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371701319

rs_2536968043

1 SubmittersRCV003781096

NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)

SNV
Germline

Chr12:88055620

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385976221

rs_2499470143

1 SubmittersRCV003783591

NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr12:88093814

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386005923

rs_2500271417

1 SubmittersRCV003783592

NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)

SNV
Germline

Chr12:88106797

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385971165

rs_2500618622

1 SubmittersRCV003783593

NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)

SNV
Germline

Chr12:88107004

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385971741

rs_2500627820

1 SubmittersRCV003783594

NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)

SNV
Germline

Chr12:88141030

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA241168621

rs_868347260

1 SubmittersRCV003783595

NM_015272.5(RPGRIP1L):c.2959-8A>G

SNV
Germline

Chr16:53638419

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA2633237284

rs_2544002792

2 SubmittersRCV003789512 RCV005013185

NM_015272.5(RPGRIP1L):c.2958+1G>A

SNV
Germline

Chr16:53641032

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Single Submitter

CA395926908

rs_2151056579

2 SubmittersRCV003789555 RCV004542263

NM_153704.6(TMEM67):c.869G>A (p.Trp290Ter)

SNV
Germline

Chr8:93780747

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371688122

rs_267607117

1 SubmittersRCV003781771

NM_017777.4(MKS1):c.240G>A (p.Trp80Ter)

SNV
Germline

Chr17:58216687

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA400327738

rs_1114167302

1 SubmittersRCV003781823

NM_015272.5(RPGRIP1L):c.2221C>T (p.Gln741Ter)

SNV
Germline

Chr16:53649047

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395915651

rs_2544154546

1 SubmittersRCV003795640

NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)

SNV
Germline

Chr8:93758541

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA371685862

rs_1392985639

2 SubmittersRCV003795688 RCV005040516

NM_015272.5(RPGRIP1L):c.3432+2T>C

SNV
Germline

Chr16:53622217

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395923925

rs_2543820049

1 SubmittersRCV003797716

NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)

SNV
Germline

Chr12:88083053

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385992693

rs_2499955544

2 SubmittersRCV003793188 RCV004573319

NM_025114.4(CEP290):c.2052+1G>A

SNV
Germline

Chr12:88114419

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385976715

rs_2038915208

3 SubmittersRCV005003714 RCV003793380 RCV004573320

NM_025114.4(CEP290):c.1360-1G>C

SNV
Germline

Chr12:88120277

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980285

rs_2501054131

2 SubmittersRCV003779392 RCV005003707

NM_001378615.1(CC2D2A):c.1359+1G>C

SNV
Germline

Chr4:15527657

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356410569

rs_1717586613

2 SubmittersRCV003779435 RCV005030262

NM_001378615.1(CC2D2A):c.3538A>T (p.Arg1180Ter)

SNV
Germline

Chr4:15570440

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356421907

rs_2475083325

1 SubmittersRCV003779471

NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)

SNV
Germline

Chr12:88111311

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385974663

rs_2500744133

2 SubmittersRCV003780009 RCV004796843

NM_001378615.1(CC2D2A):c.2338+2T>C

SNV
Germline

Chr4:15550982

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356417603

rs_2475019890

1 SubmittersRCV003782616

NM_015272.5(RPGRIP1L):c.2996C>G (p.Ser999Ter)

SNV
Germline

Chr16:53638374

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395926626

rs_770414663

1 SubmittersRCV003782662

NM_024809.5(TCTN2):c.1713G>A (p.Ser571=)

SNV
Germline

Chr12:123704632

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Conflicting Classifications

CA6861312

rs_772675747

2 SubmittersRCV003780402 RCV005013179

NM_015272.5(RPGRIP1L):c.3439G>T (p.Glu1147Ter)

SNV
Germline

Chr16:53619202

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA8057284

rs_752266252

1 SubmittersRCV003788615

NM_017777.4(MKS1):c.205G>T (p.Glu69Ter)

SNV
Germline

Chr17:58216722

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA400327815

rs_2509457683

1 SubmittersRCV003788636

NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)

SNV
Germline

Chr4:15510163

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356408524

rs_2474909050

2 SubmittersRCV003780839 RCV005038508

NM_015272.5(RPGRIP1L):c.1732C>T (p.Gln578Ter)

SNV
Germline

Chr16:53652955

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395917451

rs_2544213172

1 SubmittersRCV003788796

NM_001378615.1(CC2D2A):c.1608-2A>G

SNV
Germline

Chr4:15536918

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356411151

rs_1419232670

1 SubmittersRCV003788933

NM_153704.6(TMEM67):c.2764+2T>G

SNV
Germline

Chr8:93809889

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA371699871

rs_1293481687

2 SubmittersRCV003789017 RCV005040507

NM_015272.5(RPGRIP1L):c.2304+14G>C

SNV
Germline

Chr16:53648950

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8057583

rs_574635809

2 SubmittersRCV003789038 RCV005014958

NM_025114.4(CEP290):c.669+15A>G

SNV
Germline

Chr12:88130253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606454199

rs_1165909730

2 SubmittersRCV003789091 RCV005003709

NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)

SNV
Germline

ChrX:13755211

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351776

rs_755523044

2 SubmittersRCV003787160 RCV004823210

NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)

SNV
Germline

Chr12:88080322

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385991385

rs_2036106218

1 SubmittersRCV003787549

NM_015272.5(RPGRIP1L):c.632+1G>T

SNV
Germline

Chr16:53687862

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395924359

rs_1376397728

1 SubmittersRCV003792747

NM_001378615.1(CC2D2A):c.2486+1G>A

SNV
Germline

Chr4:15553306

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356419757

rs_386833747

1 SubmittersRCV003792793

NM_015272.5(RPGRIP1L):c.3835+13G>A

SNV
Germline

Chr16:53605468

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA395920796

rs_776026998

2 SubmittersRCV003792956 RCV005013188

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

CA389869513

rs_2040059119

1 SubmittersRCV003795302

NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)

SNV
Germline

Chr8:93755850

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA4807572

rs_766282946

1 SubmittersRCV003795315

NM_025114.4(CEP290):c.298-15G>A

SNV
Germline

Chr12:88136801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712837

rs_756197493

2 SubmittersRCV003787834 RCV005013178

NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)

SNV
Germline

Chr12:88084729

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385995411

rs_1475658217

1 SubmittersRCV003787889

NM_017777.4(MKS1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:58219229

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA400328262

rs_1364950881

1 SubmittersRCV003786196

NM_001378615.1(CC2D2A):c.4708G>T (p.Glu1570Ter)

SNV
Germline

Chr4:15601270

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356436102

rs_2475163025

1 SubmittersRCV003788433

NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)

SNV
Germline

Chr12:88064076

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385979875

rs_2499619599

1 SubmittersRCV003788445

NM_015272.5(RPGRIP1L):c.1581+2T>C

SNV
Germline

Chr16:53657451

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395918617

rs_1567847278

1 SubmittersRCV003786365

NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)

SNV
Germline

ChrX:13761085

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351975

rs_190688700

2 SubmittersRCV003786619 RCV005040505

NM_024809.5(TCTN2):c.765-1G>C

SNV
Germline

Chr12:123688050

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA387137341

rs_1191280597

2 SubmittersRCV003784525 RCV005013183

NM_001378615.1(CC2D2A):c.3975+2T>G

SNV
Germline

Chr4:15580173

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA2864263

rs_376561287

1 SubmittersRCV003786740

NM_025114.4(CEP290):c.6522+18G>C

SNV
Germline

Chr12:88060812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606675628

rs_1359522025

2 SubmittersRCV003786965 RCV005003710

NM_025114.4(CEP290):c.3103+1G>A

SNV
Germline

Chr12:88096887

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386006783

rs_1592550848

1 SubmittersRCV003785026

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

CA389885420

rs_2543902802

1 SubmittersRCV003798301

NM_015272.5(RPGRIP1L):c.779C>G (p.Ser260Ter)

SNV
Germline

Chr16:53675120

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395923303

rs_199885005

1 SubmittersRCV003791852

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

CA377707454

rs_2492761440

1 SubmittersRCV003792379

NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)

SNV
Germline

Chr8:93755787

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371685540

rs_1563673490

1 SubmittersRCV003807751

NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)

SNV
Germline

Chr12:88083127

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385992862

rs_2499958316

1 SubmittersRCV003807799

NM_001378615.1(CC2D2A):c.3276C>A (p.Tyr1092Ter)

SNV
Germline

Chr4:15567470

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356417912

rs_1719937487

1 SubmittersRCV003807845

NM_015272.5(RPGRIP1L):c.1702C>T (p.Gln568Ter)

SNV
Germline

Chr16:53652985

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395917519

rs_1349804201

1 SubmittersRCV003808158

NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)

SNV
Germline

Chr12:88084837

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385995666

rs_2499991573

1 SubmittersRCV003808159

NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)

SNV
Germline

Chr12:88118681

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385979284

rs_1325063481

1 SubmittersRCV003806084

NM_025114.4(CEP290):c.2587-1G>A

SNV
Germline

Chr12:88106906

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385971666

rs_1247861318

1 SubmittersRCV003808275

NM_001378615.1(CC2D2A):c.16G>T (p.Glu6Ter)

SNV
Germline

Chr4:15475948

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356406986

rs_2474814350

1 SubmittersRCV003808386

NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)

SNV
Germline

Chr12:88117067

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385978111

rs_2500867184

2 SubmittersRCV005003719 RCV003808415

NM_017777.4(MKS1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr17:58219229

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400328263

rs_1364950881

1 SubmittersRCV003808425

NM_001378615.1(CC2D2A):c.4513A>T (p.Lys1505Ter)

SNV
Germline

Chr4:15599545

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356433654

rs_1721481933

1 SubmittersRCV003806337

NM_153704.6(TMEM67):c.2322+1G>T

SNV
Germline

Chr8:93803685

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371697650

rs_139721499

1 SubmittersRCV003806463

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

CA211808632

rs_373479905

1 SubmittersRCV003806525

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

SNV
Germline

Chr17:58208585

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400325929

rs_794727070

1 SubmittersRCV003806808

NM_001329943.3(KIAA0586):c.1130-2A>G

SNV
Germline

Chr14:58453348

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

CA389866490

rs_2543001967

1 SubmittersRCV003791078

NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter)

SNV
Germline

Chr12:88109094

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385972651

rs_2137662565

1 SubmittersRCV003791552

NM_153704.6(TMEM67):c.1861-1G>A

SNV
Germline

Chr8:93797133

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371693149

rs_2536903110

1 SubmittersRCV003799509

NM_001378615.1(CC2D2A):c.3975+1G>T

SNV
Germline

Chr4:15580172

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356426792

rs_1553842818

1 SubmittersRCV003799607

NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)

SNV
Germline

Chr12:88089484

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386001394

rs_2500121621

2 SubmittersRCV003791609 RCV005013192

NM_015272.5(RPGRIP1L):c.3432+1G>T

SNV
Germline

Chr16:53622218

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395923927

rs_2150974573

1 SubmittersRCV003791769

NM_001378615.1(CC2D2A):c.3049C>T (p.Gln1017Ter)

SNV
Germline

Chr4:15563389

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356415583

rs_1191597081

1 SubmittersRCV003791785

NM_001378615.1(CC2D2A):c.2923-1G>A

SNV
Germline

Chr4:15560530

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356413310

rs_2475051413

2 SubmittersRCV003800059 RCV004796847

NM_001378615.1(CC2D2A):c.4254T>A (p.Tyr1418Ter)

SNV
Germline

Chr4:15589619

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356429787

rs_1560196405

1 SubmittersRCV003805394

NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr12:88111717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385974857

rs_1438792443

2 SubmittersRCV003805604 RCV005013194

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

CA389874918

rs_2543274107

1 SubmittersRCV003805690

NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter)

SNV
Germline

Chr12:88080187

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385990863

rs_2499907395

1 SubmittersRCV003805799

NM_025114.4(CEP290):c.516+1G>A

SNV
Germline

Chr12:88130544

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712765

rs_779409629

4 SubmittersRCV003805876 RCV004733652 RCV005003718 RCV005407255

NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)

SNV
Germline

Chr12:88068581

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385982153

rs_2499676199

1 SubmittersRCV003805944

NM_015272.5(RPGRIP1L):c.616G>T (p.Gly206Ter)

SNV
Germline

Chr16:53687879

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395924399

rs_2544658236

1 SubmittersRCV003805953

NM_017777.4(MKS1):c.663T>G (p.Tyr221Ter)

SNV
Germline

Chr17:58213851

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400326759

rs_1597993685

1 SubmittersRCV003805955

NM_017777.4(MKS1):c.297T>A (p.Cys99Ter)

SNV
Germline

Chr17:58216208

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400327589

rs_2509455117

1 SubmittersRCV003805989

NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)

SNV
Germline

Chr12:88077867

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385988981

rs_2499860456

1 SubmittersRCV003803713

NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter)

SNV
Germline

ChrX:13760387

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412344134

rs_1397283663

1 SubmittersRCV003803794

NM_025114.4(CEP290):c.2817+1G>T

SNV
Germline

Chr12:88106674

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385970740

rs_2500612408

1 SubmittersRCV003803920

NM_001378615.1(CC2D2A):c.3739C>T (p.Gln1247Ter)

SNV
Germline

Chr4:15574294

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356424062

rs_2475093374

1 SubmittersRCV003803966

NM_025114.4(CEP290):c.2484-2A>C

SNV
Germline

Chr12:88107100

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385972295

rs_1555217024

1 SubmittersRCV003801538

NM_001378615.1(CC2D2A):c.1684G>T (p.Glu562Ter)

SNV
Germline

Chr4:15536996

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356411332

rs_1008514114

1 SubmittersRCV003801585

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

CA377706478

rs_1174698466

1 SubmittersRCV003798618

NM_015272.5(RPGRIP1L):c.776+1G>C

SNV
Germline

Chr16:53686432

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395923724

rs_771226563

2 SubmittersRCV003798673 RCV005014972

NM_015272.5(RPGRIP1L):c.2304+1G>A

SNV
Germline

Chr16:53648963

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395915263

rs_746451396

1 SubmittersRCV003790813

NM_001329943.3(KIAA0586):c.271-1G>A

SNV
Germline

Chr14:58430647

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

CA389859509

rs_1473309166

1 SubmittersRCV003797162

NM_015272.5(RPGRIP1L):c.1213G>T (p.Glu405Ter)

SNV
Germline

Chr16:53664900

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA281351131

rs_747612183

1 SubmittersRCV003799202

NM_025114.4(CEP290):c.441+1G>A

SNV
Germline

Chr12:88136642

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987068

rs_1184012636

2 SubmittersRCV003799241 RCV005003716

NM_001329943.3(KIAA0586):c.2254+1G>T

SNV
Germline

Chr14:58466030

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

CA261631560

rs_907814338

1 SubmittersRCV003799280

NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)

SNV
Germline

Chr12:88084714

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385995265

rs_1337146202

1 SubmittersRCV003799416

NM_015272.5(RPGRIP1L):c.2428C>T (p.Gln810Ter)

SNV
Germline

Chr16:53645880

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395914645

rs_2544106771

2 SubmittersRCV003797513 RCV005014974

NM_025114.4(CEP290):c.351T>C (p.Ile117=)

SNV
Germline

Chr12:88136733

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6712824

rs_771707256

3 SubmittersRCV003797651 RCV003889340 RCV005610612

NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter)

SNV
Germline

Chr12:88121124

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385980788

rs_2501098066

1 SubmittersRCV003802842

NM_017777.4(MKS1):c.384C>A (p.Tyr128Ter)

SNV
Germline

Chr17:58216121

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA292014661

rs_1036618109

1 SubmittersRCV003802881

NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)

SNV
Germline

Chr8:93780627

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371687761

rs_2536841694

1 SubmittersRCV003802984

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

CA396810580

rs_762837979

1 SubmittersRCV003803019

NM_001378615.1(CC2D2A):c.4671C>A (p.Tyr1557Ter)

SNV
Germline

Chr4:15599703

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356434732

rs_2475157423

1 SubmittersRCV003805344

NM_001378615.1(CC2D2A):c.356T>A (p.Leu119Ter)

SNV
Germline

Chr4:15502841

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356408281

rs_2474890243

1 SubmittersRCV003800602

NM_001378615.1(CC2D2A):c.2875G>T (p.Glu959Ter)

SNV
Germline

Chr4:15559210

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356412738

rs_2475046668

1 SubmittersRCV003803235

NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)

SNV
Germline

Chr8:93804766

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371697889

rs_2536929338

1 SubmittersRCV003803583

NM_025114.4(CEP290):c.297+1G>C

SNV
Germline

Chr12:88139144

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385988566

rs_878853360

2 SubmittersRCV003803606 RCV004573329

NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)

SNV
Germline

Chr12:88086092

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385996334

rs_2500009261

1 SubmittersRCV003809160

NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)

SNV
Germline

Chr12:88071882

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385985036

rs_2499744201

3 SubmittersRCV003801218 RCV005013196 RCV005616803

NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)

SNV
Germline

Chr12:88125272

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385981152

rs_2501272074

2 SubmittersRCV003796931 RCV004573326

NM_001329943.3(KIAA0586):c.3144+1G>A

SNV
Germline

Chr14:58482713

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

CA389880147

rs_1389086114

1 SubmittersRCV003794811

NM_153704.6(TMEM67):c.1247T>A (p.Leu416Ter)

SNV
Germline

Chr8:93785337

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371689443

rs_2536860629

1 SubmittersRCV003795082

NM_001378615.1(CC2D2A):c.718-1G>C

SNV
Germline

Chr4:15514706

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356409114

rs_2474920861

1 SubmittersRCV003795147

NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter)

SNV
Germline

ChrX:13753426

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412341900

rs_2518886198

1 SubmittersRCV003795182

NM_001378615.1(CC2D2A):c.1765-1G>C

SNV
Germline

Chr4:15537898

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356411524

rs_2474978321

1 SubmittersRCV003808439

NM_001378615.1(CC2D2A):c.717+1G>A

SNV
Germline

Chr4:15511424

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356409107

rs_1027674181

1 SubmittersRCV003808506

NM_001378615.1(CC2D2A):c.3595-1G>T

SNV
Germline

Chr4:15574149

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356423577

rs_2475092769

1 SubmittersRCV003808622

NM_015272.5(RPGRIP1L):c.707T>A (p.Leu236Ter)

SNV
Germline

Chr16:53686502

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395923881

rs_1970024714

1 SubmittersRCV003808624

NM_001378615.1(CC2D2A):c.4320G>A (p.Trp1440Ter)

SNV
Germline

Chr4:15596090

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356431437

rs_2475144110

1 SubmittersRCV003808649

NM_025114.4(CEP290):c.2052+4A>T

SNV
Germline

Chr12:88114416

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA2575243400

rs_2500813056

1 SubmittersRCV003808673

NM_001378615.1(CC2D2A):c.3015-1G>C

SNV
Germline

Chr4:15563354

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356415375

rs_2475061426

1 SubmittersRCV003800696

NM_001329943.3(KIAA0586):c.3144+2T>C

SNV
Germline

Chr14:58482714

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

CA389880151

rs_1424747601

1 SubmittersRCV003800804

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

SNV
Germline

Chr4:15569292

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA2864167

rs_746409565

1 SubmittersRCV003800806

NM_025114.4(CEP290):c.4704+1G>A

SNV
Germline

Chr12:88084585

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385994326

rs_1565835538

1 SubmittersRCV003808696

NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)

SNV
Germline

Chr12:88106877

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385971529

rs_373341530

2 SubmittersRCV003808930 RCV005254878

NM_015272.5(RPGRIP1L):c.2565C>A (p.Tyr855Ter)

SNV
Germline

Chr16:53645743

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA281339125

rs_886052096

1 SubmittersRCV003808931

NM_153704.6(TMEM67):c.1519-1G>A

SNV
Germline

Chr8:93791262

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371690774

rs_2536880959

1 SubmittersRCV003807016

NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)

SNV
Germline

Chr12:88083089

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385992779

rs_2499956762

1 SubmittersRCV003807043

NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter)

SNV
Germline

Chr16:53622221

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395923935

rs_1050777749

2 SubmittersRCV003809291 RCV005013198

NM_003611.3(OFD1):c.935+1G>C

SNV
Germline

ChrX:13749534

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412339144

rs_2518857883

1 SubmittersRCV003809322

NM_153704.6(TMEM67):c.2239C>T (p.Gln747Ter)

SNV
Germline

Chr8:93799756

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371695938

rs_764097983

1 SubmittersRCV003804716

NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)

SNV
Germline

Chr12:88106746

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385970942

rs_2500615773

1 SubmittersRCV003804787

NM_025114.4(CEP290):c.5013-1G>A

SNV
Germline

Chr12:88080396

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385991684

rs_2499914261

1 SubmittersRCV003801790

NM_024809.5(TCTN2):c.1312+1G>C

SNV
Germline

Chr12:123695298

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA245165781

rs_868710719

1 SubmittersRCV003810133

NM_015272.5(RPGRIP1L):c.2920A>T (p.Lys974Ter)

SNV
Germline

Chr16:53641071

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395926997

rs_1353809695

1 SubmittersRCV003802210

NM_153704.6(TMEM67):c.1132-1G>T

SNV
Germline

Chr8:93785221

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA4807892

rs_762114240

1 SubmittersRCV003802312

NM_001378615.1(CC2D2A):c.304G>T (p.Gly102Ter)

SNV
Germline

Chr4:15502485

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356408159

rs_1278804341

1 SubmittersRCV003802469

NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter)

SNV
Germline

Chr12:88086154

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385996773

rs_2500011110

1 SubmittersRCV003817703

NM_001378615.1(CC2D2A):c.2181+1G>A

SNV
Germline

Chr4:15541015

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356414344

rs_1718406119

1 SubmittersRCV003817725

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

CA389885471

rs_2043343702

1 SubmittersRCV003817867

NM_025114.4(CEP290):c.372A>G (p.Leu124=)

SNV
Germline

Chr12:88136712

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA481054322

rs_2040371763

2 SubmittersRCV003818037 RCV003889342

NM_001378615.1(CC2D2A):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr4:15540979

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356414016

rs_2474988519

1 SubmittersRCV003813472

NM_153704.6(TMEM67):c.1288+1G>A

SNV
Germline

Chr8:93785379

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371689543

rs_1814047987

1 SubmittersRCV003813539

NM_015272.5(RPGRIP1L):c.1581+1G>A

SNV
Germline

Chr16:53657452

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395918623

rs_2544279628

1 SubmittersRCV003813698

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

CA389859419

rs_2542458244

1 SubmittersRCV003809500

NM_001378615.1(CC2D2A):c.3336C>A (p.Cys1112Ter)

SNV
Germline

Chr4:15567724

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356418961

rs_2475074578

1 SubmittersRCV003809519

NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)

SNV
Germline

Chr4:15599614

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356434128

rs_118204052

1 SubmittersRCV003809569

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

CA261647817

rs_746158069

1 SubmittersRCV003801627

NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter)

SNV
Germline

Chr12:88083861

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385993223

rs_2499972252

1 SubmittersRCV003801663

NM_153704.6(TMEM67):c.1518+2T>C

SNV
Germline

Chr8:93787951

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371690307

rs_1814190165

1 SubmittersRCV003801756

NM_001378615.1(CC2D2A):c.25A>T (p.Lys9Ter)

SNV
Germline

Chr4:15475957

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356407004

rs_2474814382

1 SubmittersRCV003801769

NM_017777.4(MKS1):c.81-2A>G

SNV
Germline

Chr17:58218731

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1

Criteria Provided
Single Submitter

CA400328093

rs_756709080

2 SubmittersRCV003809699 RCV005610622

NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter)

SNV
Germline

Chr12:88089069

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386000165

rs_2500096910

1 SubmittersRCV003809768

NM_001378615.1(CC2D2A):c.123+2T>G

SNV
Germline

Chr4:15478808

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356407252

rs_2474823496

1 SubmittersRCV003810059

NM_001378615.1(CC2D2A):c.4455C>A (p.Tyr1485Ter)

SNV
Germline

Chr4:15597424

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356432106

rs_2475148089

1 SubmittersRCV003810067

NM_015272.5(RPGRIP1L):c.1246C>T (p.Gln416Ter)

SNV
Germline

Chr16:53658876

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395920629

rs_1263265387

1 SubmittersRCV003815386

NM_025114.4(CEP290):c.3573+1G>A

SNV
Germline

Chr12:88090727

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001544

rs_1339320666

1 SubmittersRCV003815557

NM_015272.5(RPGRIP1L):c.1351-2A>C

SNV
Germline

Chr16:53658466

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395920027

rs_2544300648

1 SubmittersRCV003813054

NM_015272.5(RPGRIP1L):c.2573C>A (p.Ser858Ter)

SNV
Germline

Chr16:53645735

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395914312

rs_2544102925

1 SubmittersRCV003813088

NM_015272.5(RPGRIP1L):c.1243+2T>G

SNV
Germline

Chr16:53664868

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395921448

rs_2544398205

1 SubmittersRCV003813176

NM_001082538.3(TCTN1):c.472+1G>C

SNV
Germline

Chr12:110626493

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6786562

rs_769457761

1 SubmittersRCV003813383

NM_017777.4(MKS1):c.1166-11C>T

SNV
Germline

Chr17:58208012

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA627143022

rs_1291753612

2 SubmittersRCV003807484 RCV005014977

NM_153704.6(TMEM67):c.1675-1G>T

SNV
Germline

Chr8:93795408

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371692100

rs_2536896446

1 SubmittersRCV003807557

NM_153704.6(TMEM67):c.1576-1G>A

SNV
Germline

Chr8:93793197

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371691102

rs_2536888066

1 SubmittersRCV003812350

NM_001378615.1(CC2D2A):c.3182+1G>A

SNV
Germline

Chr4:15563523

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA92513587

rs_749583615

1 SubmittersRCV003812411

NM_025114.4(CEP290):c.4812+1G>T

SNV
Germline

Chr12:88083846

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385993102

rs_2137167420

1 SubmittersRCV003812742

NM_001378615.1(CC2D2A):c.469G>T (p.Glu157Ter)

SNV
Germline

Chr4:15510169

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356408541

rs_1716487985

1 SubmittersRCV003812790

NM_025114.4(CEP290):c.7130-1G>A

SNV
Germline

Chr12:88050434

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385973911

rs_2499370007

1 SubmittersRCV003812795

NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)

SNV
Germline

Chr12:88129828

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385985675

rs_2501474958

1 SubmittersRCV003807222

NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter)

SNV
Germline

Chr12:88107028

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385971803

rs_886038694

1 SubmittersRCV003807247

NM_015272.5(RPGRIP1L):c.952A>T (p.Lys318Ter)

SNV
Germline

Chr16:53672947

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395922901

rs_2544491095

1 SubmittersRCV003802507

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

CA389867077

rs_531197147

1 SubmittersRCV003805154

NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter)

SNV
Germline

Chr12:88093793

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386005831

rs_2500270196

1 SubmittersRCV003805185

NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter)

SNV
Germline

Chr12:88086492

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385997739

rs_2500019381

1 SubmittersRCV003810213

NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr12:88129696

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385984176

rs_2501462993

1 SubmittersRCV003810349

NM_015272.5(RPGRIP1L):c.2875-2A>G

SNV
Germline

Chr16:53641118

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395927100

rs_2544040196

1 SubmittersRCV003810397

NM_017777.4(MKS1):c.1028G>A (p.Trp343Ter)

SNV
Germline

Chr17:58208580

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA292009158

rs_567026924

1 SubmittersRCV003810420

NM_001134831.2(AHI1):c.3421C>T (p.Gln1141Ter)

SNV
Germline

Chr6:135318524

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365844112

rs_2483216049

1 SubmittersRCV003822241

NM_001384732.1(CPLANE1):c.5190A>G (p.Gln1730=)

SNV
Germline

Chr5:37182991

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238593

rs_780331230

2 SubmittersRCV003818266 RCV005038525

NM_001134831.2(AHI1):c.3486-2A>T

SNV
Germline

Chr6:135290527

Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365840991

rs_1412515128

2 SubmittersRCV003822161 RCV005038547

NM_001382391.1(CSPP1):c.-10-1G>T

SNV
Germline

Chr8:67074242

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4770095

rs_765909612

1 SubmittersRCV003843482

NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)

SNV
Germline

Chr8:67164421

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA4770933

rs_779579881

1 SubmittersRCV003868847

NM_001134831.2(AHI1):c.3427-1G>A

SNV
Germline

Chr6:135300559

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365841365

rs_2483057578

1 SubmittersRCV003856467

NM_001134831.2(AHI1):c.1913-1G>A

SNV
Germline

Chr6:135438499

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365744401

rs_1785757537

1 SubmittersRCV003851986

NM_001174150.2(ARL13B):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr3:94039899

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

CA2504142

rs_138982484

1 SubmittersRCV003873350

NM_001134831.2(AHI1):c.1152-1G>A

SNV
Germline

Chr6:135455927

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365746783

rs_1344854036

2 SubmittersRCV003880498 RCV005040610

NM_015272.5(RPGRIP1L):c.674T>G (p.Leu225Ter)

SNV
Germline

Chr16:53686535

Likely pathogenic

RPGRIP1L-related disorder
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Single Submitter

CA395924257

rs_746227955

2 SubmittersRCV004531844 RCV005015087

NM_001082538.3(TCTN1):c.1635+1G>A

SNV
Germline

Chr12:110647337

Likely pathogenic

Joubert syndrome 13

Criteria Provided
Single Submitter

CA6786930

rs_760922371

1 SubmittersRCV003984992

NM_001044385.3(TMEM237):c.137-2A>G

SNV
Germline

Chr2:201636887

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA350316070

rs_2469505548

1 SubmittersRCV003988673

NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)

SNV
Germline

Chr10:73234866

Likely pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

CA209591414

rs_941024653

1 SubmittersRCV003990217

NM_019892.6(INPP5E):c.136G>T (p.Glu46Ter)

SNV
Germline

Chr9:136439284

Likely pathogenic

MORM syndrome
Joubert syndrome 1
Joubert syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375571172

rs_886063713

2 SubmittersRCV005051421 RCV003990086

NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)

SNV
Germline

Chr9:136431931

Conflicting classifications of pathogenicity

Retinal dystrophy
MORM syndrome
Joubert syndrome 1
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336794

rs_773590570

3 SubmittersRCV004818445 RCV005040622 RCV003990940

NM_001077418.3(TMEM231):c.538C>T (p.Gln180Ter)

SNV
Germline

Chr16:75545396

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

CA396806682

rs_770748954

1 SubmittersRCV003994985

NM_001044385.3(TMEM237):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr2:201632117

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

CA350312990

rs_2469498081

1 SubmittersRCV004555395

NM_001382391.1(CSPP1):c.385-2A>G

SNV
Germline

Chr8:67093541

Likely pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

CA371188577

rs_2488602319

1 SubmittersRCV004555776

NM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter)

SNV
Unknown

Chr10:73233009

Pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

rs_1233151424

1 SubmittersRCV004560473

NM_173348.2(FAM149B1):c.1127+1G>A

SNV
Unknown

Chr10:73230526

Pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

rs_750681131

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

rs_2467251817

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

rs_2467272890

1 SubmittersRCV004574369

NM_015202.5(KATNIP):c.19C>T (p.Arg7Ter)

SNV
Germline

Chr16:27573912

Pathogenic

Joubert syndrome 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_774261860

2 SubmittersRCV004586275 RCV005059584

NM_001384732.1(CPLANE1):c.4033C>T (p.Gln1345Ter)

SNV
Germline

Chr5:37187461

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

rs_1408712462

1 SubmittersRCV004595373

NM_025114.4(CEP290):c.5364+1G>A

SNV
Germline

Chr12:88079091

Likely pathogenic

Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004596667 RCV005006455

NM_001077418.3(TMEM231):c.583A>G (p.Ile195Val)

SNV
Germline

Chr16:75542683

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004679653 RCV005015234

NM_153704.6(TMEM67):c.274G>A (p.Gly92Arg)

SNV
Germline

Chr8:93755828

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV004703127

NM_001082538.3(TCTN1):c.342-8A>G

SNV
Germline

Chr12:110626354

Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004701124 RCV005003786

NM_015631.6(TCTN3):c.853-1G>T

SNV
Germline

Chr10:95686531

Pathogenic

Joubert syndrome 18

No Assertion Criteria Provided

1 SubmittersRCV004720226

NM_001378615.1(CC2D2A):c.4065+1G>T

SNV
Germline

Chr4:15586247

Likely pathogenic

CC2D2A-related disorder
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV004726628 RCV005218267

NM_015272.5(RPGRIP1L):c.2622T>C (p.Asn874=)

SNV
Germline

Chr16:53645686

Conflicting classifications of pathogenicity

RPGRIP1L-related disorder
Joubert syndrome

No Assertion Criteria Provided

2 SubmittersRCV004733704 RCV005610725

NM_001382391.1(CSPP1):c.43A>T (p.Arg15Ter)

SNV
Germline

Chr8:67074295

Likely pathogenic

CSPP1-related disorder
Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004757895 RCV004796885

NM_001308120.2(TOGARAM1):c.4969+2T>A

SNV
Germline

Chr14:45068645

Likely pathogenic

Joubert syndrome 37

Criteria Provided
Single Submitter

1 SubmittersRCV004764888

NM_001082538.3(TCTN1):c.291C>A (p.Cys97Ter)

SNV
Germline

Chr12:110619906

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV004771433

NM_015272.5(RPGRIP1L):c.2450A>G (p.Tyr817Cys)

SNV
Germline

Chr16:53645858

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV004766774

NM_001352754.2(ARMC9):c.780+1G>A

SNV
Germline

Chr2:231235382

Likely pathogenic

Joubert syndrome 30

Criteria Provided
Single Submitter

1 SubmittersRCV004797013

NM_024809.5(TCTN2):c.1147G>T (p.Glu383Ter)

SNV
Germline

Chr12:123694889

Pathogenic

Joubert syndrome 24

Criteria Provided
Single Submitter

1 SubmittersRCV004797017

NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter)

SNV
Germline

Chr2:110169979

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795762

NM_001382391.1(CSPP1):c.294T>A (p.Tyr98Ter)

SNV
Germline

Chr8:67086101

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV004796438

NM_014704.4(CEP104):c.1237A>C (p.Met413Leu)

SNV
Germline

Chr1:3836575

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004799815 RCV004981229

NM_001384732.1(CPLANE1):c.7915C>T (p.Gln2639Ter)

SNV
Germline

Chr5:37157766

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV004799854

NM_153704.6(TMEM67):c.652-1G>A

SNV
Germline

Chr8:93772588

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV004799924

NM_003611.3(OFD1):c.1370A>T (p.Gln457Leu)

SNV
Germline

ChrX:13756726

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004821552 RCV005218359

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

SNV
Germline

Chr16:53610966

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009823

NM_015272.5(RPGRIP1L):c.3217G>T (p.Glu1073Ter)

SNV
Germline

Chr16:53637698

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009830

NM_015272.5(RPGRIP1L):c.2896C>T (p.Gln966Ter)

SNV
Germline

Chr16:53641095

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009833

NM_015272.5(RPGRIP1L):c.2305-2A>G

SNV
Germline

Chr16:53646005

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009839

NM_015272.5(RPGRIP1L):c.2179G>A (p.Gly727Ser)

SNV
Germline

Chr16:53649089

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009840

NM_015272.5(RPGRIP1L):c.2152+1G>A

SNV
Germline

Chr16:53652534

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Joubert syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV005009843 RCV005610761

NM_015272.5(RPGRIP1L):c.1405C>T (p.Gln469Ter)

SNV
Germline

Chr16:53657629

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009854

NM_015272.5(RPGRIP1L):c.1264C>T (p.Gln422Ter)

SNV
Germline

Chr16:53658858

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009856

NM_015272.5(RPGRIP1L):c.1229T>G (p.Leu410Ter)

SNV
Germline

Chr16:53664884

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005015584

NM_015272.5(RPGRIP1L):c.882+1G>T

SNV
Germline

Chr16:53675016

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005015588

NM_015272.5(RPGRIP1L):c.188T>G (p.Leu63Ter)

SNV
Germline

Chr16:53696193

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005015603

NM_017777.4(MKS1):c.261+1G>T

SNV
Germline

Chr17:58216665

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005023822

NM_017777.4(MKS1):c.191-1G>T

SNV
Germline

Chr17:58216737

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005020534

NM_001128178.3(NPHP1):c.1735G>T (p.Glu579Ter)

SNV
Germline

Chr2:110125663

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028761

NM_001128178.3(NPHP1):c.1530-1G>A

SNV
Germline

Chr2:110131792

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028763

NM_001128178.3(NPHP1):c.1352+1G>A

SNV
Germline

Chr2:110146752

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028765

NM_001128178.3(NPHP1):c.859+1G>A

SNV
Germline

Chr2:110163047

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005015993

NM_001128178.3(NPHP1):c.771+170T>G

SNV
Germline

Chr2:110164518

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028770

NM_001128178.3(NPHP1):c.523-1G>T

SNV
Germline

Chr2:110168554

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005016003

NM_001128178.3(NPHP1):c.501A>G (p.Gln167=)

SNV
Germline

Chr2:110169827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005016005 RCV005063233

NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr2:110204938

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005016013

NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr2:110204968

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028779

NM_001082538.3(TCTN1):c.625-1G>A

SNV
Germline

Chr12:110632471

Likely pathogenic

Joubert syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005004816

NM_001082538.3(TCTN1):c.843+1G>A

SNV
Germline

Chr12:110636502

Likely pathogenic

Joubert syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005006802

NM_025114.4(CEP290):c.6964A>T (p.Lys2322Ter)

SNV
Germline

Chr12:88054410

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005390

NM_025114.4(CEP290):c.6960+1G>A

SNV
Germline

Chr12:88055575

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011623

NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)

SNV
Germline

Chr12:88060838

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005397

NM_025114.4(CEP290):c.6358-2A>C

SNV
Germline

Chr12:88060996

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011635

NM_025114.4(CEP290):c.6270+1G>A

SNV
Germline

Chr12:88063980

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005399

NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)

SNV
Germline

Chr12:88071424

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005403

NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)

SNV
Germline

Chr12:88071901

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005404

NM_025114.4(CEP290):c.5710-2A>G

SNV
Germline

Chr12:88071928

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005405

NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)

SNV
Germline

Chr12:88077272

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005011643 RCV005218404

NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)

SNV
Germline

Chr12:88080283

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011646

NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)

SNV
Germline

Chr12:88083086

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011651

NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)

SNV
Germline

Chr12:88089472

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005424

NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)

SNV
Germline

Chr12:88093879

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011670

NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)

SNV
Germline

Chr12:88106773

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011676

NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)

SNV
Germline

Chr12:88111302

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011682

NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)

SNV
Germline

Chr12:88118483

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011688

NM_025114.4(CEP290):c.1624-1G>C

SNV
Germline

Chr12:88118571

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005441

NM_025114.4(CEP290):c.566C>G (p.Ser189Ter)

SNV
Germline

Chr12:88130371

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005453

NM_014704.4(CEP104):c.2365-2A>G

SNV
Germline

Chr1:3823564

Likely pathogenic

Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Single Submitter

1 SubmittersRCV005028501

NM_014704.4(CEP104):c.2188+1G>T

SNV
Germline

Chr1:3826707

Likely pathogenic

Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Single Submitter

1 SubmittersRCV005022966

NM_014704.4(CEP104):c.2151+2T>C

SNV
Germline

Chr1:3829264

Likely pathogenic

Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Single Submitter

1 SubmittersRCV005022970

NM_014704.4(CEP104):c.968C>G (p.Ser323Ter)

SNV
Germline

Chr1:3837443

Likely pathogenic

Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Single Submitter

1 SubmittersRCV005028530

NM_014704.4(CEP104):c.808A>T (p.Lys270Ter)

SNV
Germline

Chr1:3839047

Pathogenic/Likely pathogenic

Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77
Joubert syndrome 25

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005028541 RCV005112710

NM_014704.4(CEP104):c.735+1G>T

SNV
Germline

Chr1:3839607

Likely pathogenic

Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Single Submitter

1 SubmittersRCV005028548

NM_001044385.3(TMEM237):c.1159+1G>T

SNV
Germline

Chr2:201626025

Likely pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

1 SubmittersRCV005018413

NM_024809.5(TCTN2):c.83-1G>A

SNV
Germline

Chr12:123671506

Likely pathogenic

Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Single Submitter

1 SubmittersRCV005004839

NM_024809.5(TCTN2):c.311G>A (p.Trp104Ter)

SNV
Germline

Chr12:123673658

Likely pathogenic

Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Single Submitter

1 SubmittersRCV005008836

NM_024809.5(TCTN2):c.764+2T>C

SNV
Germline

Chr12:123687037

Likely pathogenic

Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Single Submitter

1 SubmittersRCV005008843

NM_024809.5(TCTN2):c.916C>T (p.Gln306Ter)

SNV
Germline

Chr12:123690557

Pathogenic/Likely pathogenic

Meckel syndrome, type 8
Joubert syndrome 24
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005008846 RCV005218403

NM_024809.5(TCTN2):c.1612+1G>C

SNV
Germline

Chr12:123699811

Likely pathogenic

Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Single Submitter

1 SubmittersRCV005008866

NM_024809.5(TCTN2):c.1788G>A (p.Trp596Ter)

SNV
Germline

Chr12:123706744

Likely pathogenic

Meckel syndrome, type 8
Joubert syndrome 24

Criteria Provided
Single Submitter

1 SubmittersRCV005008873

NM_001077418.3(TMEM231):c.753C>A (p.Tyr251Ter)

SNV
Germline

Chr16:75541367

Likely pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

1 SubmittersRCV005017787

NM_001077418.3(TMEM231):c.582+2T>G

SNV
Germline

Chr16:75545350

Likely pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

1 SubmittersRCV005017794

NM_001384732.1(CPLANE1):c.3980G>A (p.Trp1327Ter)

SNV
Germline

Chr5:37187514

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035820

NM_001384732.1(CPLANE1):c.3289+1G>T

SNV
Germline

Chr5:37205314

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005037526

NM_001384732.1(CPLANE1):c.3019G>T (p.Glu1007Ter)

SNV
Germline

Chr5:37206327

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005037532

NM_001384732.1(CPLANE1):c.2511T>A (p.Cys837Ter)

SNV
Germline

Chr5:37224323

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005043362

NM_001384732.1(CPLANE1):c.2307G>A (p.Trp769Ter)

SNV
Germline

Chr5:37224725

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005037549

NM_001384732.1(CPLANE1):c.2200C>T (p.Gln734Ter)

SNV
Germline

Chr5:37226395

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005043364

NM_001384732.1(CPLANE1):c.1121+1G>T

SNV
Germline

Chr5:37230866

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005037571

NM_001384732.1(CPLANE1):c.1121+1G>A

SNV
Germline

Chr5:37230866

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005037573

NM_001384732.1(CPLANE1):c.571-1G>A

SNV
Germline

Chr5:37243120

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005043380

NM_001384732.1(CPLANE1):c.82G>T (p.Glu28Ter)

SNV
Germline

Chr5:37245845

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005043386

NM_153704.6(TMEM67):c.637C>T (p.Arg213Cys)

SNV
Germline

Chr8:93765632

Pathogenic/Likely pathogenic

6 conditions
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005043458 RCV005223186

NM_001378615.1(CC2D2A):c.2339-1G>A

SNV
Germline

Chr4:15553157

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005027280

NM_001378615.1(CC2D2A):c.2686G>T (p.Glu896Ter)

SNV
Germline

Chr4:15557364

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005039003

NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)

SNV
Germline

Chr4:15579980

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005039012

NM_001378615.1(CC2D2A):c.4315-1G>T

SNV
Germline

Chr4:15596084

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005039028

NM_001384732.1(CPLANE1):c.9302G>A (p.Trp3101Ter)

SNV
Germline

Chr5:37120224

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005043317

NM_001384732.1(CPLANE1):c.8633-1G>A

SNV
Germline

Chr5:37139371

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035740

NM_001384732.1(CPLANE1):c.7613C>A (p.Ser2538Ter)

SNV
Germline

Chr5:37162542

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035755

NM_001384732.1(CPLANE1):c.7177G>T (p.Glu2393Ter)

SNV
Germline

Chr5:37168847

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005043331

NM_001384732.1(CPLANE1):c.5900+2T>C

SNV
Germline

Chr5:37177619

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035787

NM_001384732.1(CPLANE1):c.5737+2T>C

SNV
Germline

Chr5:37180015

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035790

NM_001384732.1(CPLANE1):c.5653G>T (p.Glu1885Ter)

SNV
Germline

Chr5:37180101

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035793

NM_001384732.1(CPLANE1):c.5300C>A (p.Ser1767Ter)

SNV
Germline

Chr5:37182881

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035796

NM_001384732.1(CPLANE1):c.5095C>T (p.Gln1699Ter)

SNV
Germline

Chr5:37183086

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035800

NM_001384732.1(CPLANE1):c.4984C>T (p.Gln1662Ter)

SNV
Germline

Chr5:37183197

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035803

NM_001384732.1(CPLANE1):c.4810C>T (p.Gln1604Ter)

SNV
Germline

Chr5:37183371

Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005035806

NM_001378615.1(CC2D2A):c.979C>T (p.Gln327Ter)

SNV
Germline

Chr4:15515966

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005037496

NM_001378615.1(CC2D2A):c.1359+1G>A

SNV
Germline

Chr4:15527657

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005027212

NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr4:15528623

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027213

NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr4:15537017

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027220

NM_001378615.1(CC2D2A):c.1938G>A (p.Trp646Ter)

SNV
Germline

Chr4:15538072

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027226

NM_019892.6(INPP5E):c.1780A>T (p.Lys594Ter)

SNV
Germline

Chr9:136430299

Likely pathogenic

Joubert syndrome 1
MORM syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005046053

NM_019892.6(INPP5E):c.1483C>T (p.Gln495Ter)

SNV
Germline

Chr9:136431890

Likely pathogenic

Joubert syndrome 1
MORM syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005046056

NM_015631.6(TCTN3):c.1476T>A (p.Cys492Ter)

SNV
Germline

Chr10:95680586

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV005044115

NM_015631.6(TCTN3):c.1096-2A>G

SNV
Germline

Chr10:95683631

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV005044116

NM_015631.6(TCTN3):c.888+2T>C

SNV
Germline

Chr10:95686493

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV005044117

NM_015631.6(TCTN3):c.443C>G (p.Ser148Ter)

SNV
Germline

Chr10:95692976

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV005049932

NM_015631.6(TCTN3):c.393G>A (p.Trp131Ter)

SNV
Germline

Chr10:95693026

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV005044118

NM_001174150.2(ARL13B):c.381-1G>A

SNV
Germline

Chr3:94035330

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV005037229

NM_001174150.2(ARL13B):c.664C>T (p.Arg222Ter)

SNV
Germline

Chr3:94036729

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV005037234

NM_001174150.2(ARL13B):c.689+1G>T

SNV
Germline

Chr3:94036755

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV005037235

NM_001174150.2(ARL13B):c.861C>A (p.Cys287Ter)

SNV
Germline

Chr3:94043077

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV005037243

NM_001134831.2(AHI1):c.3486-1G>T

SNV
Germline

Chr6:135290526

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005045567

NM_001134831.2(AHI1):c.3486-2A>G

SNV
Germline

Chr6:135290527

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037905

NM_001134831.2(AHI1):c.3328+1G>T

SNV
Germline

Chr6:135323161

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005045569

NM_001134831.2(AHI1):c.3166-2A>G

SNV
Germline

Chr6:135323326

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037912

NM_001134831.2(AHI1):c.2277G>A (p.Met759Ile)

SNV
Germline

Chr6:135431304

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037932

NM_001134831.2(AHI1):c.1550G>A (p.Trp517Ter)

SNV
Germline

Chr6:135448366

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037939

NM_001134831.2(AHI1):c.1427G>A (p.Trp476Ter)

SNV
Germline

Chr6:135453354

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037944

NM_001134831.2(AHI1):c.932-1G>C

SNV
Germline

Chr6:135457714

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037948

NM_001134831.2(AHI1):c.812C>A (p.Ser271Ter)

SNV
Germline

Chr6:135463244

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005045581

NM_001134831.2(AHI1):c.135+1G>C

SNV
Germline

Chr6:135490622

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037968

NM_003611.3(OFD1):c.1055+1G>T

SNV
Germline

ChrX:13751369

Likely pathogenic

Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

1 SubmittersRCV005049286

NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)

SNV
Germline

ChrX:13758353

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041624 RCV005448058

NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)

SNV
Germline

ChrX:13760264

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041629 RCV005218418

NM_016464.5(TMEM138):c.128+2T>G

SNV
Germline

Chr11:61364520

Likely pathogenic

Joubert syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005050256

NM_001173990.3(TMEM216):c.230-1G>C

SNV
Germline

Chr11:61397773

Likely pathogenic

Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005050272

NM_018718.3(CEP41):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr7:130427997

Pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

1 SubmittersRCV005080160

NM_014704.4(CEP104):c.2364+1G>A

SNV
Germline

Chr1:3825757

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005088535

NM_001329943.3(KIAA0586):c.585+1G>A

SNV
Germline

Chr14:58442881

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005088576

NM_001134831.2(AHI1):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr6:135465920

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005119584

NM_001134831.2(AHI1):c.3014C>G (p.Ser1005Ter)

SNV
Germline

Chr6:135394871

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005130296

NM_014704.4(CEP104):c.157A>T (p.Arg53Ter)

SNV
Germline

Chr1:3848738

Pathogenic

Joubert syndrome 25

Criteria Provided
Single Submitter

1 SubmittersRCV005124412

NM_001382391.1(CSPP1):c.229G>T (p.Gly77Ter)

SNV
Germline

Chr8:67086036

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV005132016

NM_001382391.1(CSPP1):c.1560T>A (p.Tyr520Ter)

SNV
Germline

Chr8:67118311

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV005144971

NM_001174150.2(ARL13B):c.679C>T (p.Arg227Ter)

SNV
Germline

Chr3:94036744

Pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV005148381

NM_016464.5(TMEM138):c.293G>A (p.Trp98Ter)

SNV
Germline

Chr11:61366209

Pathogenic

Joubert syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005162177

NM_001134831.2(AHI1):c.2989-1G>A

SNV
Germline

Chr6:135394897

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005167821

NM_016464.5(TMEM138):c.300+1G>T

SNV
Germline

Chr11:61366217

Likely pathogenic

Joubert syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005173265

NM_001134831.2(AHI1):c.3426+1G>A

SNV
Germline

Chr6:135318518

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005183178

NM_001134831.2(AHI1):c.576T>A (p.Tyr192Ter)

SNV
Germline

Chr6:135465987

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005183035

NM_019892.6(INPP5E):c.1034+2T>A

SNV
Germline

Chr9:136434035

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005199574

NM_001382391.1(CSPP1):c.3067C>T (p.Gln1023Ter)

SNV
Germline

Chr8:67175394

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV005186932

NM_001134831.2(AHI1):c.1259G>A (p.Trp420Ter)

SNV
Germline

Chr6:135455819

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200587

NM_019892.6(INPP5E):c.1426G>A (p.Gly476Arg)

SNV
Germline

Chr9:136431947

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200790

NM_001382391.1(CSPP1):c.1108G>T (p.Glu370Ter)

SNV
Germline

Chr8:67111986

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV005196555

NM_025114.4(CEP290):c.6502C>T (p.Gln2168Ter)

SNV
Germline

Chr12:88060850

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005211145

NM_003611.3(OFD1):c.1540G>A (p.Glu514Lys)

SNV
Germline

ChrX:13757788

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005223379 RCV005458018

NM_025114.4(CEP290):c.250+2T>G

SNV
Germline

Chr12:88139493

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005219555

NM_025114.4(CEP290):c.6241C>T (p.Gln2081Ter)

SNV
Germline

Chr12:88064010

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217505

NM_153704.6(TMEM67):c.1066-1G>T

SNV
Germline

Chr8:93782394

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217524

NM_025114.4(CEP290):c.4813-1G>C

SNV
Germline

Chr12:88083231

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217771

NM_001378615.1(CC2D2A):c.2003+1G>A

SNV
Germline

Chr4:15538138

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217930

NM_001378615.1(CC2D2A):c.622G>T (p.Glu208Ter)

SNV
Germline

Chr4:15511328

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217999

NM_001378615.1(CC2D2A):c.336+1G>C

SNV
Germline

Chr4:15502518

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005218024

NM_001378615.1(CC2D2A):c.2854A>T (p.Arg952Ter)

SNV
Germline

Chr4:15559189

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005223769

NM_153704.6(TMEM67):c.351C>A (p.Cys117Ter)

SNV
Germline

Chr8:93758521

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005211109

NM_001378615.1(CC2D2A):c.3289-2A>C

SNV
Germline

Chr4:15567675

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005219172

NM_025114.4(CEP290):c.4435G>T (p.Glu1479Ter)

SNV
Germline

Chr12:88086041

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005219204

NM_001378615.1(CC2D2A):c.3964C>T (p.Gln1322Ter)

SNV
Germline

Chr4:15580160

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005211267

NM_001378615.1(CC2D2A):c.3495+1G>A

SNV
Germline

Chr4:15569390

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005211356

NM_025114.4(CEP290):c.4249C>T (p.Gln1417Ter)

SNV
Germline

Chr12:88086444

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005215066

NM_001077418.3(TMEM231):c.379C>T (p.Gln127Ter)

SNV
Germline

Chr16:75545885

Pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005215261

NM_025114.4(CEP290):c.7209+2T>G

SNV
Germline

Chr12:88050352

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005215480

NM_153704.6(TMEM67):c.1706G>A (p.Gly569Asp)

SNV
Germline

Chr8:93795440

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005221220 RCV005241142

NM_025114.4(CEP290):c.2587-2A>G

SNV
Germline

Chr12:88106907

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005221259

NM_001077418.3(TMEM231):c.439-1G>C

SNV
Germline

Chr16:75545496

Likely pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005221459

NM_024809.5(TCTN2):c.1385G>A (p.Trp462Ter)

SNV
Germline

Chr12:123696487

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005228893

NM_001082538.3(TCTN1):c.514G>T (p.Glu172Ter)

SNV
Germline

Chr12:110628808

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005216921

NM_001329943.3(KIAA0586):c.2059+1G>C

SNV
Germline

Chr14:58461161

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005216931

NM_001378615.1(CC2D2A):c.2287G>T (p.Glu763Ter)

SNV
Germline

Chr4:15550929

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217011

NM_001329943.3(KIAA0586):c.1656+1G>A

SNV
Germline

Chr14:58458546

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005217041

NM_001329943.3(KIAA0586):c.411-1487A>T

SNV
Germline

Chr14:58441219

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005217146

NM_153704.6(TMEM67):c.1175C>T (p.Pro392Leu)

SNV
Germline

Chr8:93785265

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217157

NM_001378615.1(CC2D2A):c.4649T>C (p.Leu1550Pro)

SNV
Germline

Chr4:15599681

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005214732

NM_153704.6(TMEM67):c.1646G>T (p.Arg549Leu)

SNV
Germline

Chr8:93793268

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005214780

NM_153704.6(TMEM67):c.1836T>G (p.Tyr612Ter)

SNV
Germline

Chr8:93795963

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005214797

NM_025114.4(CEP290):c.6985G>T (p.Glu2329Ter)

SNV
Germline

Chr12:88054389

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005212715

NM_025114.4(CEP290):c.5013-2A>C

SNV
Germline

Chr12:88080397

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005212833

NM_001329943.3(KIAA0586):c.67G>T (p.Glu23Ter)

SNV
Germline

Chr14:58428331

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005226377

NM_153704.6(TMEM67):c.511G>T (p.Val171Phe)

SNV
Germline

Chr8:93765410

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005210401

NM_025114.4(CEP290):c.20G>A (p.Trp7Ter)

SNV
Germline

Chr12:88141288

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005214059

NM_025114.4(CEP290):c.1820C>A (p.Ser607Ter)

SNV
Germline

Chr12:88117037

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005216439

NM_153704.6(TMEM67):c.1540G>T (p.Glu514Ter)

SNV
Germline

Chr8:93791284

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005214643

NM_015631.6(TCTN3):c.737-1G>T

SNV
Germline

Chr10:95687160

Likely pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV005227050

NM_153704.6(TMEM67):c.1773+1G>T

SNV
Germline

Chr8:93795508

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005229116

NM_015681.6(B9D1):c.472G>A (p.Val158Met)

SNV
Germline

Chr17:19343790

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005224873

NM_025114.4(CEP290):c.1024C>T (p.Gln342Ter)

SNV
Germline

Chr12:88126357

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005224910

NM_003611.3(OFD1):c.2489-2A>C

SNV
Germline

ChrX:13763743

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

1 SubmittersRCV005225019

NM_153240.5(NPHP3):c.2975C>T (p.Ala992Val)

SNV
Germline

Chr3:132688800

Conflicting classifications of pathogenicity

NPHP3-related disorder
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005229607 RCV005236848

NM_001082538.3(TCTN1):c.3G>C (p.Met1Ile)

SNV
Germline

Chr12:110614185

Likely pathogenic

Joubert syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005229657

NM_001384732.1(CPLANE1):c.3921+1G>A

SNV
Germline

Chr5:37187732

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005238287

NM_001134831.2(AHI1):c.2623+1G>C

SNV
Germline

Chr6:135428628

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005239811

NM_025114.4(CEP290):c.2818-657T>G

SNV
Germline

Chr12:88103668

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005251010

NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)

SNV
Germline

Chr6:135447027

Pathogenic/Likely pathogenic

Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005253377

NM_153704.6(TMEM67):c.2242-2A>T

SNV
Germline

Chr8:93803602

Likely pathogenic

COACH syndrome 1
RHYNS syndrome
Joubert syndrome 6
Nephronophthisis 11

Criteria Provided
Single Submitter

1 SubmittersRCV005367852

NM_015202.5(KATNIP):c.3973G>A (p.Gly1325Arg)

SNV
Germline

Chr16:27766472

Likely pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

1 SubmittersRCV005411171

NM_153240.5(NPHP3):c.3813-3A>G

SNV
Germline

Chr3:132682093

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005418574

NM_001384732.1(CPLANE1):c.2974A>T (p.Arg992Ter)

SNV
Germline

Chr5:37206372

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005418854

NM_014704.4(CEP104):c.891+1G>A

SNV
Germline

Chr1:3838963

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005431162

NM_015272.5(RPGRIP1L):c.307G>T (p.Gly103Ter)

SNV
Germline

Chr16:53692288

Likely pathogenic

Joubert syndrome

No Assertion Criteria Provided

1 SubmittersRCV005607982

NM_015272.5(RPGRIP1L):c.1699+1G>A

SNV
Germline

Chr16:53656471

Pathogenic

Joubert syndrome

No Assertion Criteria Provided

1 SubmittersRCV005607984

NM_015272.5(RPGRIP1L):c.231-1G>T

SNV
Germline

Chr16:53692365

Pathogenic

Joubert syndrome

No Assertion Criteria Provided

1 SubmittersRCV005608017