Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	SNV Germline	Chr11:61393965	Pathogenic	Joubert syndrome 2 Condition: not provided Joubert syndrome Inborn genetic diseases TMEM216-related disorder Meckel syndrome, type 2 Meckel syndrome, type 2 Joubert syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA339800	rs_201108965	19 SubmittersRCV000000220 RCV000255378 RCV000465185 RCV000624413 RCV000779066 RCV000409114 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 Meckel syndrome, type 2 Joubert syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA129626	rs_201108965	7 SubmittersRCV000000221 RCV000024013 RCV001038780 RCV005049302
NM_019892.6(INPP5E):c.1879C>T (p.Gln627Ter)	SNV Germline	Chr9:136429731	Pathogenic	MORM syndrome Joubert syndrome 1 MORM syndrome	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 not specified INPP5E-related disorder Joubert syndrome 1 MORM syndrome	Criteria Provided Multiple Submitters No Conflicts	CA259597	rs_121918129	10 SubmittersRCV000022404 RCV000201569 RCV001073387 RCV003144102 RCV003488316 RCV004755693 RCV005049304
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	SNV Germline	Chr9:136433182	Pathogenic/Likely pathogenic	Joubert syndrome 1 Joubert syndrome 16 conditions Inborn genetic diseases Condition: not provided Joubert syndrome and related disorders INPP5E-related disorder Joubert syndrome 1 MORM syndrome	Criteria Provided Multiple Submitters No Conflicts	CA259598	rs_121918130	8 SubmittersRCV000022405 RCV000636941 RCV000735369 RCV001267543 RCV001550720 RCV002265543 RCV004532266 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 Joubert syndrome Meckel-Gruber 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	11 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 Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9	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 Joubert syndrome Meckel-Gruber 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 Joubert syndrome 9/15, digenic Joubert syndrome Meckel-Gruber syndrome Condition: not provided See cases Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 Meckel syndrome, type 6 COACH syndrome 2 Joubert syndrome 9 Inborn genetic diseases Autosomal recessive CC2D2A-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA129544	rs_386833750	9 SubmittersRCV000000783 RCV000023922 RCV000199602 RCV000578695 RCV002251848 RCV002476904 RCV004795365 RCV005305943 RCV006635403
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)	SNV Germline	Chr4:15567735	Conflicting classifications of pathogenicity	COACH syndrome 2 Joubert syndrome 9 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 Meckel syndrome, type 6	Criteria Provided Conflicting Classifications	CA210343	rs_267606709	7 SubmittersRCV000000784 RCV000201781 RCV000729670 RCV001383566 RCV005031375 RCV006635404
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)	SNV Germline	Chr16:53686512	Pathogenic	Joubert syndrome 7 RPGRIP1L-related disorder Joubert syndrome Meckel-Gruber 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 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3 Joubert syndrome and related disorders RPGRIP1L-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA251689	rs_121918198	9 SubmittersRCV000001124 RCV000393725 RCV000689745 RCV001271279 RCV002482812 RCV003155007 RCV004528062
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	SNV Germline	Chr16:53686452	Pathogenic	Joubert syndrome 7 Joubert syndrome Meckel-Gruber 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	Likely pathogenic	Joubert syndrome 7 Joubert syndrome	Criteria Provided Single Submitter	CA251694	rs_121918200	2 SubmittersRCV000001126 RCV005606630
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter)	SNV Germline	Chr16:53692201	Pathogenic	Meckel syndrome, type 5 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114729	rs_121918201	3 SubmittersRCV000001127 RCV001042174 RCV006638509
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)	SNV Germline	Chr16:53671580	Pathogenic	Meckel syndrome, type 5 Meckel-Gruber syndrome Joubert syndrome Autosomal recessive RPGRIP1L-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA114732	rs_121918202	3 SubmittersRCV000001128 RCV003764506 RCV006694407
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV Germline	Chr16:53645694	Pathogenic/Likely pathogenic	Meckel syndrome, type 5 RPGRIP1L-related disorder Condition: not provided Joubert syndrome 7 COACH syndrome 1 Meckel syndrome, type 5 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA130771	rs_121918203	7 SubmittersRCV000033207 RCV000779628 RCV000790748 RCV000762961 RCV001059320 RCV001831501 RCV004017218 RCV005007803
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV Germline	Chr16:53652637	Pathogenic/Likely pathogenic	Joubert syndrome 7 COACH syndrome 1 Meckel syndrome, type 5 Joubert syndrome 7 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Abnormality of prenatal development or birth Condition: not provided COACH syndrome 3 Meckel syndrome, type 5 Joubert syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA251696	rs_121918204	10 SubmittersRCV000001131 RCV000762962 RCV000824619 RCV001271277 RCV001813927 RCV001781157 RCV005007804
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV Germline	Chr16:53645895	Pathogenic/Likely 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 RCV001382825 RCV001831502 RCV002490288
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	SNV Germline	Chr16:53652712	Pathogenic	COACH syndrome 3 Joubert syndrome 7	Criteria Provided Single Submitter	CA210651	rs_267607020	2 SubmittersRCV000001135 RCV000201757
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Conflicting classifications of pathogenicity	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Retinitis pigmentosa Retinal dystrophy Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 6 Leber congenital amaurosis COG7 congenital disorder of glycosylation Abnormality of the nervous system Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 CEP290-related disorder Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA150917	rs_137852832	34 SubmittersRCV000001396 RCV000086298 RCV000114202 RCV000531295 RCV000515339 RCV000787813 RCV001073790 RCV001000092 RCV001002714 RCV001261607 RCV001276487 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV003147273 RCV004798711
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	SNV Germline	Chr12:88141287	Likely pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related ciliopathy	Reviewed By Expert Panel	CA227962	rs_62635288	7 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540 RCV006731761
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic	Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Retinitis pigmentosa Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 1 Retinal dystrophy Joubert syndrome 5 Intellectual disability CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14 Autosomal recessive CEP290-related disorders CEP290-related ciliopathy	Reviewed By Expert Panel	CA227965	rs_281865192	28 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000678535 RCV000763315 RCV000988884 RCV001075828 RCV001196010 RCV001255341 RCV001731267 RCV001831503 RCV003460403 RCV006695480 RCV006731762
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)	SNV Germline	Chr12:88111320	Pathogenic	Leber congenital amaurosis 10 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA339890	rs_137852833	4 SubmittersRCV000001401 RCV001851541 RCV003466777 RCV006638513
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Blindness Molar tooth sign on MRI Nystagmus Central hypotonia Condition: not provided not specified Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Retinal dystrophy Senior-Loken syndrome 6 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related ciliopathy CEP290-related disorder Bardet-Biedl syndrome 14 Inborn genetic diseases See cases	Reviewed By Expert Panel	CA251751	rs_137852834	26 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV001002715 RCV001046610 RCV001831504 RCV003492281 RCV003155008 RCV003466778 RCV004975257 RCV005887184
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Polycystic kidney disease Severe hydrocephalus Encephalocele Leber congenital amaurosis Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Retinal dystrophy CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	10 SubmittersRCV000001407 RCV001042869 RCV001257362 RCV001274134 RCV001376372 RCV001781163 RCV002496228 RCV003466779 RCV003887847 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 Joubert syndrome Meckel-Gruber 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 Joubert syndrome Meckel-Gruber 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 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome and related disorders TMEM67-related disorder	Criteria Provided Conflicting Classifications	CA213073	rs_199821258	11 SubmittersRCV000001439 RCV000050199 RCV001698938 RCV001851545 RCV002281687 RCV004732520
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 TMEM67-related disorder Joubert syndrome Meckel-Gruber syndrome 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 RCV000334857 RCV000468558 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 Meckel syndrome, type 3 Nephronophthisis 11 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 6 RHYNS syndrome COACH syndrome 1 not specified TMEM67-related disorder Familial pancreatic carcinoma Thyroid cancer, nonmedullary, 1 6 conditions	Criteria Provided Conflicting Classifications	CA114968	rs_111619594	16 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158405 RCV001158406 RCV001085857 RCV001158404 RCV001198570 RCV001333012 RCV003488318 RCV004528064 RCV005887185 RCV005887186 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 6 conditions Joubert syndrome and related disorders Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome 6 COACH syndrome 1 RHYNS syndrome Nephronophthisis 11 TMEM67-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210657	rs_267607119	13 SubmittersRCV000001445 RCV000001446 RCV000995902 RCV001536092 RCV001804708 RCV000821785 RCV001310635 RCV005357054 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 Joubert syndrome Meckel-Gruber 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 Joubert syndrome Meckel-Gruber 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 Joubert syndrome Renal cyst Oligohydramnios TMEM67-related disorder Condition: not provided Joubert syndrome Meckel-Gruber syndrome Inborn genetic diseases 14 conditions Nephronophthisis 11 COACH syndrome 1 Joubert syndrome 6 Meckel syndrome, type 3 Bardet-Biedl syndrome 14 RHYNS syndrome 6 conditions Nephronophthisis 11 RHYNS syndrome COACH syndrome 1 Joubert syndrome 6 Joubert syndrome and related disorders Cholestatic liver disease	Criteria Provided Multiple Submitters No Conflicts	CA114977	rs_201893408	19 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000415055 RCV000283682 RCV000479077 RCV000534533 RCV000623857 RCV000627004 RCV000763610 RCV001197497 RCV005041963 RCV005357055 RCV005887187 RCV006647169
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)	SNV Germline	Chr8:93808861	Pathogenic	Nephronophthisis 11 Joubert syndrome 6	No Assertion Criteria Provided	CA114985	rs_267607116	1 SubmittersRCV000001454 RCV000001455
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)	SNV Germline	Chr8:93755044	Pathogenic	Joubert syndrome 6 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA251770	rs_267607118	2 SubmittersRCV000001456 RCV001851547
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	SNV Germline	Chr8:93780633	Pathogenic/Likely pathogenic	Joubert syndrome 6 Nephronophthisis Condition: not provided Joubert syndrome Meckel-Gruber syndrome 6 conditions Joubert syndrome and related disorders TMEM67-related disorder Meckel syndrome, type 3	Criteria Provided Multiple Submitters No Conflicts	CA251773	rs_202149403	16 SubmittersRCV000001457 RCV000234813 RCV000418247 RCV001389251 RCV002490292 RCV004689399 RCV004732521 RCV006635406
NM_017777.4(MKS1):c.80+2T>C	SNV Germline	Chr17:58219149	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13	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 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Joubert syndrome Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342696	rs_199874059	9 SubmittersRCV000022414 RCV000668139 RCV001038005 RCV001570919 RCV003472957 RCV004732522
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	SNV Germline	Chr17:58216088	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Joubert syndrome Condition: not provided Joubert syndrome Meckel-Gruber syndrome Meckel-Gruber syndrome Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 13 Inborn genetic diseases MKS1-related disorder Uterine corpus endometrial carcinoma Uterine carcinosarcoma	Criteria Provided Conflicting Classifications	CA213122	rs_386834048	22 SubmittersRCV000022415 RCV000201633 RCV000341018 RCV000694137 RCV000605128 RCV000666711 RCV001123802 RCV004018536 RCV004528065 RCV005887189 RCV005887188
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	SNV Germline	Chr17:58206479	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Polydactyly Hypotonia Nystagmus Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome 28 MKS1-related disorder Meckel syndrome, type 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA251777	rs_137853105	12 SubmittersRCV000001458 RCV000665962 RCV000626942 RCV001239533 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	4 SubmittersRCV000002089 RCV000162132
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)	SNV Germline	Chr6:135447022	Pathogenic	Joubert syndrome 3 Condition: not provided Rod-cone dystrophy Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA252046	rs_267606641	8 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	11 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 NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 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 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 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 Retinal dystrophy Inborn genetic diseases Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Ovarian serous cystadenocarcinoma Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA116310	rs_121907899	16 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004814818 RCV004018547 RCV005025001 RCV005887256 RCV005887255
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 Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA259900	rs_201391050	7 SubmittersRCV000023739 RCV000255060 RCV001074225 RCV001172379 RCV001390240 RCV006698004
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 Joubert syndrome Meckel-Gruber 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 and related disorders Joubert syndrome 24 Meckel syndrome, type 8	Criteria Provided Multiple Submitters No Conflicts	CA129649	rs_374349989	13 SubmittersRCV000024072 RCV000305893 RCV000727919 RCV001261610 RCV002513219 RCV003987331 RCV003993750 RCV005007893
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 Condition: not provided Joubert syndrome and related disorders TMEM237-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA260000	rs_199469707	15 SubmittersRCV000024179 RCV000034999 RCV001701641 RCV002265568 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 Uterine corpus endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA222872146	rs_917404097	7 SubmittersRCV000024186 RCV002271376 RCV004724755 RCV005888664
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 Orofaciodigital syndrome type 6 Joubert syndrome 17 Joubert syndrome and related disorders Condition: not provided Lymphoma	Criteria Provided Multiple Submitters No Conflicts	CA342792	rs_367543062	7 SubmittersRCV000024219 RCV000763545 RCV004526599 RCV005234796 RCV005888665
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	6 SubmittersRCV000024221 RCV001781313 RCV002496440
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	SNV Germline	Chr5:37165595	Pathogenic	Joubert syndrome 17 Orofaciodigital syndrome type 6 Joubert syndrome 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342796	rs_139675596	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/Likely pathogenic	Orofacial-digital syndrome IV Orofacial-digital syndrome IV Joubert syndrome 18 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130048	rs_387907273	3 SubmittersRCV000030712 RCV001852611 RCV005638408
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	Pathogenic/Likely pathogenic	Joubert syndrome 20 Meckel syndrome, type 11 Joubert syndrome 20 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA130590	rs_397514609	3 SubmittersRCV000033041 RCV002513310 RCV006262332
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 Joubert syndrome and related disorders Inborn genetic diseases TMEM231-related disorder	Criteria Provided Conflicting Classifications	CA130593	rs_200799769	8 SubmittersRCV000033042 RCV000255979 RCV000543480 RCV003155046 RCV002513311 RCV004755755
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter)	SNV Germline	ChrX:13753411	Pathogenic	Orofaciodigital syndrome I Condition: not provided Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA343946	rs_312262863	5 SubmittersRCV000033955 RCV001781339 RCV002514145
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	SNV Germline	ChrX:13736487	Pathogenic	Orofaciodigital syndrome I Joubert syndrome Orofaciodigital syndrome I Joubert syndrome 10 Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA343958	rs_312262810	2 SubmittersRCV001383219 RCV002496509
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)	SNV Germline	ChrX:13736626	Pathogenic	Orofaciodigital syndrome I Joubert syndrome 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 Meckel-Gruber syndrome Joubert syndrome Condition: not provided Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA144216	rs_386833747	5 SubmittersRCV000049711 RCV002513686 RCV005250005 RCV006698029
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)	SNV Germline	Chr4:15557451	Pathogenic/Likely pathogenic	Meckel syndrome, type 6 CC2D2A-related disorder Condition: not provided Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144217	rs_386833748	4 SubmittersRCV000049712 RCV000778721 RCV001753469 RCV001853048
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)	SNV Germline	Chr4:15567729	Pathogenic/Likely pathogenic	Meckel syndrome, type 6 Joubert syndrome 9 Polydactyly Condition: not provided Meckel-Gruber syndrome Joubert syndrome COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93	Criteria Provided Multiple Submitters No Conflicts	CA144225	rs_386833752	6 SubmittersRCV000049716 RCV000201581 RCV001007916 RCV001539860 RCV002514252 RCV006684521
NM_001378615.1(CC2D2A):c.3399-3C>A	SNV Germline	Chr4:15569290	Likely pathogenic	Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert 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 Condition: not provided Meckel-Gruber syndrome Joubert syndrome CC2D2A-related disorder Joubert syndrome 9 COACH syndrome 2 Meckel syndrome, type 6 Retinitis pigmentosa 93	Criteria Provided Conflicting Classifications	CA144229	rs_386833755	8 SubmittersRCV000049719 RCV001723639 RCV001378831 RCV003335082 RCV005031533
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	SNV Germline	Chr4:15510217	Pathogenic	Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert syndrome Condition: not provided Joubert syndrome 9 COACH syndrome 2 Meckel syndrome, type 6 Retinitis pigmentosa 93	Criteria Provided Multiple Submitters No Conflicts	CA144239	rs_386833763	7 SubmittersRCV000049727 RCV001853050 RCV004700347 RCV005031535
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 Joubert syndrome 2 Meckel syndrome, type 2	Criteria Provided Multiple Submitters No Conflicts	CA144308	rs_11230683	13 SubmittersRCV000049797 RCV000201650 RCV000760437 RCV000779067 RCV000822982 RCV001787335
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro)	SNV Germline	Chr16:53652858	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA144362	rs_386833997	3 SubmittersRCV000049974 RCV002514257 RCV006638801
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)	SNV Germline	Chr17:58214784	Pathogenic	Meckel syndrome, type 1 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344757	rs_386834050	6 SubmittersRCV000050036 RCV000760436 RCV001382376 RCV003474635 RCV004732640
NM_017777.4(MKS1):c.515+1G>A	SNV Germline	Chr17:58214740	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344762	rs_201933838	9 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 Meckel syndrome, type 1 Leber congenital amaurosis 6 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Conflicting Classifications	CA344764	rs_386834053	8 SubmittersRCV000050040 RCV000735871 RCV000735097 RCV001853066 RCV003474638 RCV005025107
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided CEP290-related disorder Senior-Loken syndrome 1 Autosomal recessive CEP290-related disorders CEP290-related ciliopathy	Reviewed By Expert Panel	CA144389	rs_386834152	14 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787812 RCV000787559 RCV001376367 RCV002504949 RCV003460645 RCV002285263 RCV004732641 RCV005644503 RCV006695538 RCV006731775
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	SNV Germline	Chr12:88139153	Pathogenic/Likely pathogenic	Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Retinal dystrophy CEP290-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA144391	rs_386834153	11 SubmittersRCV000050147 RCV001053674 RCV001091341 RCV001274137 RCV003466923 RCV004760362 RCV004814991 RCV005632219
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	SNV Germline	Chr8:93781725	Pathogenic/Likely pathogenic	Meckel syndrome, type 3 Meckel-Gruber syndrome Joubert syndrome 6 Meckel-Gruber syndrome Joubert syndrome TMEM67-related disorder Condition: not provided 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA144430	rs_386834180	10 SubmittersRCV000050175 RCV000114240 RCV000201777 RCV000560903 RCV000778866 RCV001267954 RCV002477175
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	SNV Germline	Chr8:93786253	Pathogenic/Likely pathogenic	Meckel syndrome, type 3 Condition: not provided Joubert syndrome and related disorders Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA144435	rs_386834182	11 SubmittersRCV000050177 RCV000430117 RCV001804788 RCV001853069 RCV006659182 RCV005042162
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)	SNV Germline	Chr8:93786256	Pathogenic/Likely pathogenic	Meckel syndrome, type 3 Meckel-Gruber syndrome Joubert syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA144439	rs_386834183	3 SubmittersRCV000050178 RCV000823807 RCV005394287
NM_153704.6(TMEM67):c.1413-1G>C	SNV Germline	Chr8:93787843	Pathogenic	Meckel syndrome, type 3 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Joubert syndrome 20 Meckel syndrome, type 11	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	4 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 Senior-Loken syndrome 1 Nephronophthisis 1 Retinal dystrophy Inborn genetic diseases NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA220570	rs_189320299	7 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV004815000 RCV002514380 RCV004734635
NM_003611.3(OFD1):c.54A>G (p.Glu18=)	SNV Germline	ChrX:13735289	Conflicting classifications of pathogenicity	not specified Condition: not provided Orofaciodigital syndrome I Joubert syndrome 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 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA223182	rs_201380599	8 SubmittersRCV000081722 RCV000636978 RCV001118787 RCV001120738 RCV001120739 RCV001573698
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)	SNV Germline	Chr16:53641066	Conflicting classifications of pathogenicity	not specified Nephronophthisis 8 Joubert syndrome 7 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 5 Joubert syndrome Condition: not provided RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA148755	rs_144313291	9 SubmittersRCV000081725 RCV000280063 RCV000323400 RCV000547462 RCV000372251 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 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)	SNV Germline	Chr3:132692760	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome and related disorders Nephronophthisis NPHP3-related disorder Nephronophthisis 3 NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3	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 Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Bardet-Biedl syndrome 20 Condition: not provided Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71	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 Retinitis pigmentosa Retinal dystrophy Saldino-Mainzer syndrome Retinitis pigmentosa 80 Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA149747	rs_431905521	9 SubmittersRCV000083297 RCV000626469 RCV000515922 RCV004579537 RCV004815018 RCV005016363 RCV006698046
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related ciliopathy	Reviewed By Expert Panel	CA227967	rs_62640581	10 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011 RCV006731784
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	SNV Germline	Chr12:88083888	Pathogenic	Condition: not provided Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	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 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	11 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001335142 RCV001723671 RCV001276492 RCV002227445 RCV003467014 RCV005008009 RCV006645455
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	6 SubmittersRCV000087066 RCV004719692 RCV004757126
NM_001382391.1(CSPP1):c.2968+1G>A	SNV Germline	Chr8:67172556	Pathogenic	Joubert syndrome 21 Squamous cell lung carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA150610	rs_587777142	4 SubmittersRCV000087070 RCV005887785
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)	SNV Germline	Chr8:67095440	Pathogenic	Joubert syndrome 21	Criteria Provided Multiple Submitters No Conflicts	CA150612	rs_375113643	4 SubmittersRCV000087072
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)	SNV Germline	Chr8:67095434	Pathogenic	Joubert syndrome 21	No Assertion Criteria Provided	CA150616	rs_587777146	1 SubmittersRCV000087075
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)	SNV Germline	Chr8:67164468	Pathogenic	Joubert syndrome 21	No Assertion Criteria Provided	CA150618	rs_537456518	1 SubmittersRCV000087076
NM_002601.4(PDE6D):c.140-1G>A	SNV Germline	Chr2:231738139	Pathogenic	Joubert syndrome 22	No Assertion Criteria Provided	CA150641	rs_587777156	1 SubmittersRCV000087137
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)	SNV Germline	Chr4:15533245	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 9 Meckel syndrome, type 6	Criteria Provided Conflicting Classifications	CA150849	rs_144439937	12 SubmittersRCV000114164 RCV000423044 RCV001082503 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 Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Joubert 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 Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA150875	rs_377177061	10 SubmittersRCV000114178 RCV000596321 RCV001074483 RCV001056175 RCV003317090 RCV005025174 RCV004698824
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)	SNV Germline	Chr4:15596154	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Condition: not provided Joubert syndrome 9 Meckel syndrome, type 6 COACH syndrome 2 Retinitis pigmentosa 93	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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Nephronophthisis Joubert 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 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Kidney disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA150915	rs_61941020	19 SubmittersRCV000114201 RCV000292636 RCV000336982 RCV000352237 RCV000399104 RCV000407985 RCV000436165 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 Joubert syndrome 24 Condition: not provided	Criteria Provided Conflicting Classifications	CA150964	rs_79251326	9 SubmittersRCV000114230 RCV000204827 RCV000625192 RCV001110871 RCV003390794
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 Gastric cancer Ovarian serous cystadenocarcinoma Melanoma Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA150984	rs_35765535	9 SubmittersRCV000114242 RCV000200297 RCV001161604 RCV001719853 RCV005887851 RCV005887852 RCV005887853 RCV005887850
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	9 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 Meckel-Gruber syndrome Joubert 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 Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Gorlin syndrome Medulloblastoma Familial meningioma Joubert syndrome 32 Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA162216	rs_368178771	9 SubmittersRCV000122098 RCV000471241 RCV000562404 RCV000763642 RCV000726658 RCV003460861
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)	SNV Germline	Chr10:102615273	Conflicting classifications of pathogenicity	not specified Medulloblastoma Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Gorlin syndrome Medulloblastoma Familial meningioma Joubert syndrome 32 Condition: not provided SUFU-related disorder Familial meningioma	Criteria Provided Conflicting Classifications	CA162222	rs_79299301	11 SubmittersRCV000122100 RCV000260834 RCV000466509 RCV000566455 RCV000763641 RCV001354923 RCV004737208 RCV003467081
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)	SNV Germline	Chr10:102615350	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma Joubert syndrome 32 Basal cell nevus syndrome 2 Medulloblastoma Familial meningioma	Criteria Provided Conflicting Classifications	CA162225	rs_149449923	9 SubmittersRCV000122101 RCV000525787 RCV001009905 RCV003126503 RCV005025197 RCV004567055
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	8 SubmittersRCV000124246 RCV000293222 RCV000279934 RCV000337209 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 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	9 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000319253 RCV000354431 RCV000322977 RCV000472139 RCV001276489 RCV001812002 RCV002294038
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Joubert syndrome 1 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Retinal dystrophy Malignant tumor of esophagus Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	13 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001110731 RCV001110732 RCV001109949 RCV001109950 RCV001272010 RCV003888568 RCV005886947 RCV005886946
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 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy Meckel syndrome, type 3 Meckel syndrome, type 4 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	9 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV006454658 RCV005867926 RCV006638876
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	SNV Germline	Chr6:135433119	Pathogenic/Likely pathogenic	Joubert syndrome 3 Retinitis pigmentosa Condition: not provided Joubert syndrome Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA270780	rs_587783013	10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV003495112 RCV001262092
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 CEP290-related ciliopathy	Reviewed By Expert Panel	CA277711	rs_587783016	6 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203 RCV006731803
NM_001384732.1(CPLANE1):c.3290-2A>G	SNV Germline	Chr5:37201810	Pathogenic/Likely pathogenic	Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 6 Joubert syndrome 17	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	6 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 Clear cell carcinoma of kidney Thymoma Thyroid cancer, nonmedullary, 1 Acute myeloid leukemia Lung cancer Sarcoma	Criteria Provided Conflicting Classifications	CA271181	rs_149313666	12 SubmittersRCV000145369 RCV000248133 RCV000430074 RCV005887065 RCV005887067 RCV005887068 RCV005887064 RCV005887069 RCV005887066
NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr)	SNV Germline	Chr5:37138838	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided Orofaciodigital syndrome type 6 Joubert syndrome 17	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA272717	rs_199529768	3 SubmittersRCV000147738 RCV002055937 RCV006386760
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 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis 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 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 not specified Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001109956 RCV001110741 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 Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis Atypical hemolytic-uremic syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110570 RCV001110567 RCV001110568 RCV001110569 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 Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Intellectual disability	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114080 RCV001114077 RCV001114078 RCV001114079 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 Joubert syndrome Nephronophthisis 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 Joubert syndrome with renal defect Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis 1 Condition: not provided NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA234415	rs_140446520	9 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425 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	Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 9 Condition: not provided CC2D2A-related disorder Meckel syndrome, type 6 Retinitis pigmentosa 93 Joubert syndrome 9 COACH syndrome 2 Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA210291	rs_200407856	9 SubmittersRCV000198057 RCV000201663 RCV000597652 RCV004732713 RCV005031661 RCV006698096
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)	SNV Germline	Chr4:15516648	Conflicting classifications of pathogenicity	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 SubmittersRCV000316406 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	4 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 Joubert syndrome Nephronophthisis	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 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 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000291841 RCV000346891 RCV000344957 RCV000399776 RCV000400108 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 Meckel syndrome, type 5 Joubert syndrome 7 Nephronophthisis 8 Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA234809	rs_146902870	9 SubmittersRCV000252274 RCV000475862 RCV001116967 RCV001116966 RCV001116965 RCV001704116 RCV002294053
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	SNV Germline	Chr17:58206158	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 1 Microcephaly not specified Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA273756	rs_199910690	9 SubmittersRCV000161135 RCV000324288 RCV001082780 RCV001272920 RCV001252740 RCV001797645 RCV002467638 RCV004724951
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	Typical Joubert syndrome MRI findings Global developmental delay Joubert syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA249937	rs_730882221	5 SubmittersRCV000162131 RCV000201626
NM_015272.5(RPGRIP1L):c.230+1G>A	SNV Germline	Chr16:53696150	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 5 COACH syndrome 3 Joubert syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA334279	rs_786204135	3 SubmittersRCV000168110 RCV001378306 RCV001536099
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)	SNV Germline	Chr17:58216694	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 MKS1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA334638	rs_786204222	4 SubmittersRCV000168353 RCV000665745 RCV006261953 RCV006731817
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-Gruber syndrome Joubert syndrome Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA235986	rs_756368560	4 SubmittersRCV000171264 RCV001063303 RCV001826869 RCV003474920
NM_001378615.1(CC2D2A):c.4437+1G>A	SNV Germline	Chr4:15596208	Pathogenic	Condition: not provided Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA236210	rs_786205568	2 SubmittersRCV000171374 RCV003987411
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)	SNV Germline	Chr16:75556131	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 11 Joubert syndrome 20 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	Condition: not provided Joubert syndrome Meckel syndrome, type 2 Joubert syndrome 2 TMEM216-related disorder	Criteria Provided Conflicting Classifications	CA238698	rs_569734777	5 SubmittersRCV000173235 RCV000345023 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	5 SubmittersRCV000724112 RCV001510325
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	SNV Germline	Chr2:110161690	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome with renal defect Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA239098	rs_371112962	4 SubmittersRCV000173662 RCV000305677 RCV000353470 RCV000390136 RCV001094562
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)	SNV Germline	Chr2:110161645	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 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 Joubert syndrome Orofaciodigital syndrome I Congenital anomaly of kidney and urinary tract OFD1-related disorder Nonpapillary renal cell carcinoma Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA239242	rs_199902986	6 SubmittersRCV000173783 RCV001088503 RCV001254710 RCV004535188 RCV005889712 RCV005889711
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)	SNV Germline	Chr16:53664957	Conflicting classifications of pathogenicity	Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 Joubert syndrome Meckel-Gruber syndrome COACH syndrome 1 Joubert syndrome 7 Meckel syndrome, type 5 Condition: not provided Joubert syndrome Inborn genetic diseases RPGRIP1L-related disorder Optic atrophy	Criteria Provided Conflicting Classifications	CA239324	rs_137982921	14 SubmittersRCV000307599 RCV000339807 RCV000401583 RCV000697464 RCV000765297 RCV000724780 RCV001271337 RCV002516602 RCV004539604 RCV004816258
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)	SNV Germline	Chr16:53658782	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 5 Joubert syndrome	Criteria Provided Conflicting Classifications	CA200839	rs_138155747	13 SubmittersRCV000174130 RCV000223981 RCV001082949 RCV001120841 RCV001271335
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)	SNV Germline	Chr5:37227308	Conflicting classifications of pathogenicity	Joubert syndrome 17 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA239661	rs_374411782	7 SubmittersRCV000325656 RCV000724006 RCV001193382
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)	SNV Germline	Chr5:37227353	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200857	rs_139940282	5 SubmittersRCV000174162 RCV000361636 RCV000646719 RCV004020065
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)	SNV Germline	Chr8:93782407	Conflicting classifications of pathogenicity	not specified Joubert syndrome 1 Condition: not provided Joubert syndrome Meckel-Gruber syndrome TMEM67-related disorder	Criteria Provided Conflicting Classifications	CA200867	rs_140191346	7 SubmittersRCV000174181 RCV000988094 RCV001356583 RCV001409831 RCV004539607
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)	SNV Germline	Chr4:15516723	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA239791	rs_760839591	4 SubmittersRCV000174275 RCV001423715 RCV002516624
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)	SNV Germline	Chr12:110645106	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 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 not specified TCTN1-related disorder	Criteria Provided Conflicting Classifications	CA240051	rs_368907353	6 SubmittersRCV000724086 RCV002056921 RCV003150968 RCV003895182
NM_001128178.3(NPHP1):c.1270-4C>T	SNV Germline	Chr2:110146839	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Condition: not provided	Criteria Provided Conflicting Classifications	CA240230	rs_151204566	8 SubmittersRCV000174670 RCV000230927 RCV001128804 RCV001128803 RCV001128802 RCV001699052
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=)	SNV Germline	Chr16:53652875	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Joubert syndrome RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA240561	rs_779429646	5 SubmittersRCV000174930 RCV001088867 RCV001271330 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	4 SubmittersRCV000174951 RCV000611123
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	10 SubmittersRCV000174953 RCV000835406 RCV001084413 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001112002
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)	SNV Germline	ChrX:13760628	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA240715	rs_746300545	3 SubmittersRCV000175046 RCV000701169 RCV004821992
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)	SNV Germline	Chr6:135431299	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA240759	rs_794727174	6 SubmittersRCV000175088 RCV000185588 RCV001053820
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)	SNV Germline	Chr4:15537971	Conflicting classifications of pathogenicity	Condition: not provided COACH syndrome 1 Meckel syndrome, type 6 Joubert syndrome 9 Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240849	rs_201439617	7 SubmittersRCV000724892 RCV000765755 RCV001147083 RCV001147084 RCV001479910 RCV004020077
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)	SNV Germline	Chr4:15538112	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA206244	rs_16892134	11 SubmittersRCV000193025 RCV000351496 RCV000404783 RCV000514696 RCV001083444
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=)	SNV Germline	Chr16:53645869	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert 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 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 5 Joubert syndrome 7 Nephronophthisis 8 RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA201346	rs_139503476	7 SubmittersRCV000175209 RCV000514096 RCV001082641 RCV001120643 RCV001120644 RCV001120642 RCV004537378
NM_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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert syndrome Condition: not provided CC2D2A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA201370	rs_190698163	7 SubmittersRCV000175280 RCV000863197 RCV001711970 RCV004539627 RCV005305973
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 Meckel-Gruber syndrome Joubert syndrome COACH syndrome 1 CC2D2A-related disorder Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA241005	rs_200236654	9 SubmittersRCV000175281 RCV001145224 RCV001145223 RCV001239969 RCV001329599 RCV004537379 RCV004965296 RCV004816268
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)	SNV Germline	Chr4:15540994	Conflicting classifications of pathogenicity	not specified Joubert syndrome 1 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA201373	rs_199768782	8 SubmittersRCV000175282 RCV000987417 RCV000860615 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 Joubert syndrome not specified	Criteria Provided Conflicting Classifications	CA241966	rs_373772212	5 SubmittersRCV000176103 RCV001396553 RCV001698990
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala)	SNV Germline	Chr8:93799649	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 6	Criteria Provided Conflicting Classifications	CA242109	rs_781383498	3 SubmittersRCV000176240 RCV003765092 RCV006262334
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)	SNV Germline	Chr5:37187826	Conflicting classifications of pathogenicity	Joubert syndrome 17 not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242230	rs_145520487	9 SubmittersRCV000201620 RCV000254359 RCV000724250 RCV004020091
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)	SNV Germline	Chr2:165890935	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Chronic kidney disease Connective tissue disorder	Criteria Provided Conflicting Classifications	CA201936	rs_146496725	13 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001085304 RCV001135581 RCV001135582 RCV001171333 RCV002277374
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)	SNV Germline	Chr12:88107095	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Meckel-Gruber syndrome Joubert syndrome Nephronophthisis not specified	Criteria Provided Conflicting Classifications	CA242475	rs_371159780	5 SubmittersRCV000176500 RCV001074978 RCV001086387 RCV003150970
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_001173990.3(TMEM216):c.211G>T (p.Val71Leu)	SNV Germline	Chr11:61393958	Conflicting classifications of pathogenicity	not specified Joubert syndrome Joubert syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA202293	rs_57932685	6 SubmittersRCV000177125 RCV000533045 RCV001279272 RCV006439705
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	SNV Germline	Chr17:58216714	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided Meckel-Gruber syndrome Joubert syndrome MKS1-related disorder	Criteria Provided Conflicting Classifications	CA346867	rs_142813109	15 SubmittersRCV000177294 RCV000351197 RCV000399365 RCV000514445 RCV001079449 RCV004528943
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 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	SNV Germline	Chr12:88087872	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244173	rs_184143186	9 SubmittersRCV000177662 RCV001080328 RCV001273073 RCV003150971 RCV004975310
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	11 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864 RCV005003531 RCV004816287
NM_025114.4(CEP290):c.5013-7A>C	SNV Germline	Chr12:88080402	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert 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 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000328615 RCV000320490 RCV000364677 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)	SNV Germline	Chr16:53692113	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Joubert syndrome RPGRIP1L-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245348	rs_74957591	6 SubmittersRCV000178300 RCV001080714 RCV001271342 RCV004537460 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	7 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 Meckel-Gruber syndrome Joubert 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 Joubert syndrome 17 not specified See cases Orofaciodigital syndrome type 6 CPLANE1-related disorder Inborn genetic diseases Orofaciodigital syndrome type 6 Joubert syndrome 17	Criteria Provided Conflicting Classifications	CA275274	rs_151279194	16 SubmittersRCV000178539 RCV000778764 RCV001824663 RCV002287379 RCV003457649 RCV004752779 RCV004020124 RCV005031712
NM_001384732.1(CPLANE1):c.8958+4A>C	SNV Germline	Chr5:37125240	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided CPLANE1-related disorder Clear cell carcinoma of kidney Melanoma Malignant tumor of esophagus Colon adenocarcinoma Sarcoma Gastric cancer Ovarian serous cystadenocarcinoma Uveal melanoma Thymoma Malignant tumor of urinary bladder Intellectual disability Nonpapillary renal cell carcinoma Cervical cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA245783	rs_199810663	11 SubmittersRCV000247706 RCV000321409 RCV000428354 RCV003891741 RCV005891973 RCV005891979 RCV005891970 RCV005891968 RCV005891975 RCV005891976 RCV005891977 RCV005891974 RCV005891978 RCV005891969 RCV005621904 RCV005891971 RCV005891972 RCV005891967
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)	SNV Germline	Chr12:88060900	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA202959	rs_191613017	5 SubmittersRCV000178636 RCV000637007 RCV001272011 RCV001697163
NM_025114.4(CEP290):c.6523-6T>C	SNV Germline	Chr12:88060026	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert 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 NPHP1-related disorder Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA245909	rs_774162169	4 SubmittersRCV000178744 RCV003586162 RCV004539674 RCV005025286
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)	SNV Germline	Chr4:15480745	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert 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 Nephronophthisis 12 Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA246806	rs_149925563	9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001132639 RCV001087340 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 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 8	Criteria Provided Conflicting Classifications	CA246813	rs_149430216	8 SubmittersRCV000249746 RCV000724485 RCV001110188 RCV001086250 RCV001114227
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 Sarcoma Lung cancer	Criteria Provided Conflicting Classifications	CA203333	rs_147485641	8 SubmittersRCV000179535 RCV000556780 RCV001112867 RCV001112868 RCV001550115 RCV005892037 RCV005892038
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 not specified Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	8 SubmittersRCV000179537 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV003488430 RCV003227695 RCV003888636 RCV004539683
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Joubert syndrome 5 CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	13 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490 RCV005008108 RCV005305978
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)	SNV Germline	Chr4:15502836	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA203454	rs_186264635	7 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA203516	rs_144567556	8 SubmittersRCV000179977 RCV000275193 RCV000327984 RCV000465788 RCV001721126
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA247572	rs_118057448	7 SubmittersRCV000180204 RCV001111502 RCV001323802 RCV005749522
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)	SNV Germline	Chr6:135457612	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 3 Joubert syndrome Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA247748	rs_200927282	7 SubmittersRCV000250813 RCV000724880 RCV001155546 RCV001206260 RCV002517761 RCV004816310
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)	SNV Germline	Chr4:15511309	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome CC2D2A-related disorder Retinitis pigmentosa 93 Meckel syndrome, type 6 COACH syndrome 2 Joubert syndrome 9	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 Condition: not provided Joubert syndrome 23 Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA204047	rs_757350052	9 SubmittersRCV000186591 RCV000479178 RCV000652577 RCV006456812
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 Orofacial-digital syndrome IV Joubert syndrome 18 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA204583	rs_764091969	4 SubmittersRCV000190630 RCV002517029 RCV006688594
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)	SNV Germline	Chr14:58428458	Pathogenic	Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23 Short-rib thoracic dysplasia 14 with polydactyly	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 Joubert syndrome 23 Short-rib thoracic dysplasia 14 with polydactyly	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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 9 Meckel syndrome, type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA208880	rs_16892134	6 SubmittersRCV000194608 RCV000862063 RCV001149616 RCV001149617 RCV001705077
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)	SNV Germline	Chr4:15557361	Pathogenic/Likely pathogenic	Joubert syndrome 9 Meckel syndrome, type 6 Joubert syndrome 9 COACH syndrome 1 Condition: not provided Meckel-Gruber syndrome Joubert syndrome CC2D2A-related disorder COACH syndrome 2 Retinitis pigmentosa 93 Meckel syndrome, type 6 Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA209079	rs_764719093	6 SubmittersRCV000194720 RCV000763523 RCV003238731 RCV003765214 RCV004528978 RCV005025311
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 Meckel-Gruber syndrome Joubert syndrome Condition: not provided CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA205784	rs_370492044	6 SubmittersRCV000192749 RCV000293449 RCV000348318 RCV001521745 RCV001697269 RCV004541237
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)	SNV Germline	Chr4:15589661	Conflicting classifications of pathogenicity	not specified Joubert syndrome 9 Meckel syndrome, type 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA209579	rs_372671421	10 SubmittersRCV000195028 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 Uterine corpus endometrial carcinoma Thyroid cancer, nonmedullary, 1 Thymoma Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA208963	rs_148005445	9 SubmittersRCV000194651 RCV000878808 RCV001157836 RCV003927768 RCV005892252 RCV005892251 RCV005892250 RCV005892249
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)	SNV Germline	Chr5:37183664	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided Intellectual disability	Criteria Provided Conflicting Classifications	CA206075	rs_141911199	11 SubmittersRCV000192922 RCV000625259 RCV000726605 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 Meckel-Gruber syndrome Joubert 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 MORM syndrome Joubert syndrome 1 Condition: not provided Joubert syndrome and related disorders	Criteria Provided Conflicting Classifications	CA209401	rs_199873582	8 SubmittersRCV000194920 RCV001044083 RCV001166425 RCV002517084 RCV004528981 RCV005042414 RCV005252804 RCV006456823
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)	SNV Germline	Chr12:88071409	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Nephronophthisis Joubert 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 Meckel-Gruber syndrome Nephronophthisis Joubert 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 Meckel-Gruber syndrome Nephronophthisis Joubert 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 Joubert syndrome 7 Condition: not provided Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207998	rs_146197239	10 SubmittersRCV000194076 RCV000861106 RCV001117063 RCV001117062 RCV001117064 RCV001698998 RCV001833139 RCV002517128
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)	SNV Germline	Chr16:53687963	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Joubert syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206389	rs_140067659	9 SubmittersRCV000193122 RCV000861107 RCV001120943 RCV001120942 RCV001120944 RCV001271340 RCV001699228 RCV004020339
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)	SNV Germline	Chr16:75540054	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 11 Joubert syndrome 20	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	11 SubmittersRCV000193368 RCV000224657 RCV001082508 RCV001128313 RCV001128312
NM_017777.4(MKS1):c.1158A>G (p.Glu386=)	SNV Germline	Chr17:58208112	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Joubert 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 Bardet-Biedl syndrome 13 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA347417	rs_797045706	6 SubmittersRCV000194216 RCV000672938 RCV003474946 RCV003765230
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly)	SNV Germline	ChrX:13757717	Conflicting classifications of pathogenicity	not specified Joubert syndrome Orofaciodigital syndrome I	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 Joubert syndrome Orofaciodigital syndrome I Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2 Orofaciodigital syndrome I 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	Bardet-Biedl syndrome Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Single Submitter	CA347348	rs_797044604	2 SubmittersRCV000192446 RCV006640445
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 Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA336743	rs_780427871	6 SubmittersRCV000196832 RCV000730183 RCV001128695 RCV001128696 RCV001135698 RCV002282034 RCV002478707 RCV002517295
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)	SNV Germline	Chr4:15563386	Conflicting classifications of pathogenicity	Joubert syndrome 9 Condition: not provided Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome 9 CC2D2A-related disorder	Criteria Provided Conflicting Classifications	CA338306	rs_373960465	8 SubmittersRCV000350715 RCV000344416 RCV000405623 RCV001087622 RCV002227457 RCV004530191
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)	SNV Germline	Chr6:135318527	Conflicting classifications of pathogenicity	Joubert syndrome not specified Joubert syndrome 3 Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA335852	rs_201148693	5 SubmittersRCV000195696 RCV000248598 RCV001157001 RCV001252130 RCV001596984
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)	SNV Germline	Chr6:135457656	Conflicting classifications of pathogenicity	Joubert syndrome not specified Joubert syndrome 3 Condition: not provided Inborn genetic diseases AHI1-related disorder Cholangiocarcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA338680	rs_200201741	9 SubmittersRCV000199507 RCV000346238 RCV001157230 RCV001576697 RCV002517286 RCV003927849 RCV005893571 RCV005893572
NM_153704.6(TMEM67):c.186T>C (p.Cys62=)	SNV Germline	Chr8:93755100	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome not specified Meckel syndrome, type 3 Joubert syndrome 6 Nephronophthisis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA336379	rs_115660279	7 SubmittersRCV000196386 RCV000245192 RCV000291370 RCV000339372 RCV000377674 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 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA277789	rs_775883520	13 SubmittersRCV000198666 RCV000201726 RCV000624166 RCV001090385 RCV001814102 RCV004798803 RCV005042429
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)	SNV Germline	Chr3:93995879	Conflicting classifications of pathogenicity	Joubert syndrome 8	Criteria Provided Conflicting Classifications	CA279441	rs_863225149	2 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 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 COACH syndrome 1 COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome 9	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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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-Gruber syndrome Joubert syndrome COACH syndrome 2 Retinitis pigmentosa 93 Joubert syndrome 9 Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA210338	rs_773881370	6 SubmittersRCV000201775 RCV001853233 RCV004796099
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)	SNV Germline	Chr4:15563395	Pathogenic/Likely pathogenic	Joubert syndrome 9 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 COACH syndrome 1 CC2D2A-related disorder COACH syndrome 2 Retinitis pigmentosa 93 Meckel syndrome, type 6 Joubert syndrome 9 Meckel syndrome, type 6 Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA210269	rs_370880399	12 SubmittersRCV000201572 RCV000489696 RCV000702498 RCV000763524 RCV000778722 RCV005031762 RCV005052801 RCV005893613
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)	SNV Germline	Chr4:15563474	Pathogenic/Likely pathogenic	Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA279522	rs_863225173	3 SubmittersRCV000201741 RCV003765303 RCV005791834
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)	SNV Germline	Chr4:15567482	Conflicting classifications of pathogenicity	Joubert syndrome 9 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA279438	rs_863225170	3 SubmittersRCV000201640 RCV003330577 RCV006555667
NM_001378615.1(CC2D2A):c.3594+5G>A	SNV Germline	Chr4:15570501	Conflicting classifications of pathogenicity	Joubert syndrome 9 Condition: not provided Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA279555	rs_863225181	3 SubmittersRCV000201770 RCV000319494 RCV001853234
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)	SNV Germline	Chr4:15574151	Conflicting classifications of pathogenicity	Joubert syndrome 9 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA210331	rs_760918829	7 SubmittersRCV000201761 RCV000728362 RCV001059471 RCV001147664 RCV001266379
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 Meckel-Gruber syndrome Joubert syndrome COACH syndrome 2 Retinitis pigmentosa 93 Meckel syndrome, type 6 Joubert syndrome 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210258	rs_779823379	6 SubmittersRCV000201552 RCV001261604 RCV001853232 RCV005031761 RCV005639089
NM_001378615.1(CC2D2A):c.3976-3C>A	SNV Germline	Chr4:15586154	Conflicting classifications of pathogenicity	Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome Retinal dystrophy COACH syndrome 2 Retinitis pigmentosa 93 Meckel syndrome, type 6 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA210298	rs_576298659	4 SubmittersRCV000201676 RCV002519579 RCV004816346 RCV005031765
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)	SNV Germline	Chr4:15586170	Conflicting classifications of pathogenicity	Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome Condition: not provided not specified COACH syndrome 2 Retinitis pigmentosa 93 Meckel syndrome, type 6 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA210320	rs_763486732	5 SubmittersRCV000201714 RCV001067961 RCV003144159 RCV003323453 RCV005031764
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 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279397	rs_863225168	2 SubmittersRCV000201598 RCV003765301
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)	SNV Germline	Chr4:15597460	Pathogenic/Likely pathogenic	Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279430	rs_863225179	2 SubmittersRCV000201637 RCV006555668
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)	SNV Germline	Chr4:15599632	Conflicting classifications of pathogenicity	Joubert syndrome 9 Meckel-Gruber syndrome Joubert 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 Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder Inborn genetic diseases COACH syndrome 1 Neurodevelopmental disorder Joubert syndrome and related disorders Ciliopathy Retinal dystrophy COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome 9 Retinitis pigmentosa 93	Criteria Provided Multiple Submitters No Conflicts	CA210318	rs_201502401	20 SubmittersRCV000201706 RCV000286210 RCV000347415 RCV000474430 RCV000778102 RCV001266486 RCV001542750 RCV002277554 RCV003317149 RCV005365132 RCV004816345 RCV005031763
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	Joubert syndrome 17 Condition: not provided Joubert syndrome 17 Orofaciodigital syndrome type 6 Joubert syndrome See cases Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA277758	rs_374144275	10 SubmittersRCV000201669 RCV000357854 RCV000697060 RCV001849341 RCV002252055 RCV002298520
NM_001384732.1(CPLANE1):c.9017+1G>T	SNV Unknown	Chr5:37122429	Pathogenic	Joubert syndrome 17	Criteria Provided Single Submitter	CA279532	rs_863225154	1 SubmittersRCV000201749
NM_001384732.1(CPLANE1):c.9017+1G>A	SNV Germline	Chr5:37122429	Pathogenic/Likely pathogenic	Joubert syndrome 17 Joubert syndrome 1 Condition: not provided Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA279466	rs_863225154	6 SubmittersRCV000201659 RCV000987513 RCV001857740 RCV002500627
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 CPLANE1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277737	rs_147416429	8 SubmittersRCV000201628 RCV001332490 RCV002517309 RCV005042430 RCV006261959
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	SNV Germline	Chr5:37157810	Pathogenic/Likely pathogenic	Joubert syndrome 17 Condition: not provided Global developmental delay Jaundice Orofaciodigital syndrome type 6 Joubert syndrome 17 Orofaciodigital syndrome type 6 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA277813	rs_749523755	16 SubmittersRCV000201773 RCV000255254 RCV000415153 RCV000646703 RCV001198869 RCV006456832
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)	SNV Germline	Chr5:37158258	Pathogenic/Likely pathogenic	Joubert syndrome 17 Orofaciodigital syndrome type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279479	rs_863225159	4 SubmittersRCV000201681 RCV003987448 RCV004767146
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 Orofaciodigital syndrome type 6 Joubert syndrome 17	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 Joubert syndrome 17 Orofaciodigital syndrome type 6	Criteria Provided Multiple Submitters No Conflicts	CA277773	rs_530569572	8 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	12 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA277806	rs_368788993	3 SubmittersRCV000201756 RCV005237713 RCV005645035
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)	SNV Germline	Chr6:135427244	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Joubert syndrome AHI1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279374	rs_863225135	6 SubmittersRCV000201566 RCV001091216 RCV001240194 RCV003407712
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)	SNV Germline	Chr6:135428757	Pathogenic/Likely pathogenic	Joubert syndrome 3 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279357	rs_863225131	2 SubmittersRCV000201542 RCV003114363
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)	SNV Unknown	Chr6:135431220	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA279355	rs_863225146	1 SubmittersRCV000201540
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)	SNV Germline	Chr6:135431284	Pathogenic/Likely pathogenic	Joubert syndrome 3 Joubert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279563	rs_863225139	3 SubmittersRCV000201786 RCV003495118 RCV006555666
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)	SNV Germline	Chr6:135433081	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Retinitis pigmentosa Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277726	rs_372659908	7 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 Joubert syndrome Condition: not provided Retinal dystrophy Nephronophthisis Rod-cone dystrophy Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA339611	rs_777668842	9 SubmittersRCV000201715 RCV000206729 RCV000482493 RCV001074545 RCV001328119 RCV001376375 RCV003317148
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)	SNV Germline	Chr6:135455818	Pathogenic	Joubert syndrome 3 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 See cases Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279546	rs_863225142	4 SubmittersRCV000201760 RCV002287391 RCV003330575
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	SNV Germline	Chr6:135465901	Pathogenic	Joubert syndrome 3 Joubert syndrome and related disorders Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279475	rs_863225138	4 SubmittersRCV000201668 RCV002469064 RCV003765300
NM_001382391.1(CSPP1):c.923+1G>C	SNV Germline	Chr8:67095733	Pathogenic	Joubert syndrome 21 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279386	rs_863225194	3 SubmittersRCV000201587 RCV001847909
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)	SNV Germline	Chr8:67111983	Pathogenic/Likely pathogenic	Joubert syndrome 21 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210307	rs_374703898	4 SubmittersRCV000201690 RCV000520785
NM_001382391.1(CSPP1):c.1697+1G>T	SNV Germline	Chr8:67118822	Pathogenic	Joubert syndrome 21 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279533	rs_863225193	3 SubmittersRCV000201750 RCV006250265
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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 3 Nephronophthisis 11 Joubert syndrome 6 Cholestatic liver disease Joubert syndrome and related disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277766	rs_750950408	6 SubmittersRCV000201683 RCV001853242 RCV005621916 RCV006648385 RCV006456834 RCV006659308
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 6 conditions Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279411	rs_863225227	3 SubmittersRCV000201614 RCV002500631 RCV002517316
NM_153704.6(TMEM67):c.978+3A>G	SNV Germline	Chr8:93780985	Conflicting classifications of pathogenicity	Joubert syndrome 6 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA277782	rs_775256658	2 SubmittersRCV000201705 RCV001853241
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)	SNV Germline	Chr8:93782402	Pathogenic/Likely pathogenic	Joubert syndrome 6 TMEM67-related disorder Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279392	rs_863225232	4 SubmittersRCV000201590 RCV004528990 RCV005222828
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 Meckel-Gruber syndrome Joubert syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA279345	rs_863225235	5 SubmittersRCV000201528 RCV000419395 RCV000636949 RCV002478718
NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu)	SNV Unknown	Chr8:93782455	Pathogenic	Joubert syndrome 6	Criteria Provided Single Submitter	CA279510	rs_863225231	1 SubmittersRCV000201732
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	SNV Germline	Chr8:93786255	Conflicting classifications of pathogenicity	Joubert syndrome 6 Oligohydramnios Renal cyst Joubert syndrome Inborn genetic diseases 14 conditions Joubert syndrome 6 COACH syndrome 1 Meckel syndrome, type 3 Bardet-Biedl syndrome 14 Nephronophthisis 11 Meckel-Gruber syndrome Joubert syndrome 6 conditions Meckel syndrome, type 3	Criteria Provided Conflicting Classifications	CA277817	rs_752362727	6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV005042432 RCV003997037
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)	SNV Germline	Chr8:93786285	Pathogenic	Joubert syndrome 6 Condition: not provided Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert syndrome 6 conditions Joubert syndrome and related disorders	Criteria Provided Conflicting Classifications	CA279453	rs_863225238	7 SubmittersRCV000201654 RCV001161723 RCV001163244 RCV001307480 RCV005042433 RCV005437985
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)	SNV Germline	Chr8:93803652	Pathogenic	Joubert syndrome 6 6 conditions Meckel-Gruber syndrome Joubert syndrome Condition: not provided COACH syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA277715	rs_751517725	6 SubmittersRCV000201592 RCV002503793 RCV002515477 RCV003128594 RCV005860035
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	Conflicting classifications of pathogenicity	Joubert syndrome Rod-cone dystrophy Condition: not provided INPP5E-related disorder Joubert syndrome 1	Criteria Provided Conflicting Classifications	CA277739	rs_752300607	6 SubmittersRCV000201629 RCV001376233 RCV001537183 RCV004530206 RCV005860034
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277720	rs_754637179	4 SubmittersRCV000201594 RCV004530207 RCV006700200
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 Orofacial-digital syndrome IV Joubert syndrome 18 Condition: not provided Joubert syndrome and related disorders Autosomal recessive TCTN3-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA210256	rs_745688122	7 SubmittersRCV000201547 RCV000796275 RCV003227713 RCV004782310 RCV006695576
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	7 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	7 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA210323	rs_201827132	5 SubmittersRCV000201719 RCV001853239 RCV002222441 RCV005008143 RCV005861078
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 Meckel-Gruber syndrome Joubert 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 Germline	Chr12:88068585	Pathogenic	Joubert syndrome 5 CEP290-related ciliopathy	Reviewed By Expert Panel	CA277694	rs_779262951	2 SubmittersRCV000201548 RCV006731846
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)	SNV Germline	Chr12:88071373	Pathogenic	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Retinal dystrophy Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA277735	rs_371525247	9 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV003468924 RCV004798806 RCV004816348 RCV005003554 RCV006640458
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	10 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005361163 RCV005623073 RCV006640457
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Blindness Global developmental delay Condition: not provided Occipital encephalocele Cystic renal dysplasia Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy Autosomal recessive CEP290-related disorders CEP290-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	15 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354 RCV004732783 RCV004816347 RCV006695574 RCV006741247
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Leber congenital amaurosis 10 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	14 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926 RCV004816349
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Occipital encephalocele Condition: not provided Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder CEP290-related ciliopathy	Reviewed By Expert Panel	CA277705	rs_539400286	18 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001002937 RCV000816913 RCV001030764 RCV001529566 RCV001589085 RCV003468919 RCV004732782 RCV006731843
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Retinal disorder Leber congenital amaurosis Autosomal recessive CEP290-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279529	rs_863225186	9 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141 RCV005860033 RCV006635321 RCV006640456 RCV006695573
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)	SNV Germline	Chr12:88130283	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert 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 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 5 COACH syndrome 3 Joubert syndrome 7 Condition: not provided Inborn genetic diseases RPGRIP1L-related disorder Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277753	rs_778533826	7 SubmittersRCV000201661 RCV001853237 RCV002492927 RCV002509297 RCV002517313 RCV004732786 RCV006640460
NM_015272.5(RPGRIP1L):c.2305-1G>A	SNV Germline	Chr16:53646004	Pathogenic	Joubert syndrome 7 Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279339	rs_863225215	3 SubmittersRCV000201526 RCV006640459
NM_015272.5(RPGRIP1L):c.1243+1G>A	SNV Germline	Chr16:53664869	Pathogenic/Likely pathogenic	Joubert syndrome 7 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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	Pathogenic/Likely pathogenic	Joubert syndrome Condition: not provided Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Meckel-Gruber syndrome Joubert syndrome MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210326	rs_773684291	7 SubmittersRCV000201754 RCV000479872 RCV000984285 RCV000984284 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 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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 and related disorders Joubert syndrome 34	Criteria Provided Multiple Submitters No Conflicts	CA210341	rs_750436680	3 SubmittersRCV000201776 RCV001844085 RCV002265681
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)	SNV Germline	Chr19:41355008	Pathogenic/Likely pathogenic	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 Joubert syndrome Orofaciodigital syndrome I 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 Joubert syndrome Orofaciodigital syndrome I Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA279372	rs_863225212	5 SubmittersRCV000201562 RCV000484195 RCV001383220 RCV003888641
NM_024809.5(TCTN2):c.1235-1G>A	SNV Germline	Chr12:123695219	Pathogenic	Joubert syndrome 24	No Assertion Criteria Provided	CA279858	rs_863225425	1 SubmittersRCV000202333
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter)	SNV Germline	Chr12:123706829	Pathogenic	Joubert syndrome 24 Meckel-Gruber syndrome Joubert 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 Polycystic kidney disease 2 Joubert syndrome 7 Polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA348383	rs_2234917	14 SubmittersRCV000204140 RCV000253113 RCV001000584 RCV001258257 RCV001292230 RCV001705172
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)	SNV Germline	Chr8:93765416	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert 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-Gruber syndrome Joubert syndrome Meckel syndrome, type 5 COACH syndrome 3 Joubert syndrome 7 Inborn genetic diseases RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057711	rs_148230131	8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002500747 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 Meckel syndrome, type 1 Joubert syndrome 28 Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 MKS1-related disorder Meckel syndrome, type 1	Criteria Provided Multiple Submitters No Conflicts	CA8669502	rs_756853299	7 SubmittersRCV000224251 RCV000668874 RCV001049084 RCV003475049 RCV004732799 RCV006640487
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)	SNV Germline	Chr16:53664948	Conflicting classifications of pathogenicity	Condition: not provided not specified Nephronophthisis 8 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 5 Joubert syndrome 7 Joubert syndrome RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057886	rs_79708859	8 SubmittersRCV000224232 RCV000253760 RCV001120843 RCV001079549 RCV001120842 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 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder Thymoma	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	8 SubmittersRCV000224686 RCV000244417 RCV001109952 RCV001109954 RCV001109953 RCV001109955 RCV001109951 RCV001518146 RCV004529386 RCV005895161
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)	SNV Germline	Chr17:58216137	Conflicting classifications of pathogenicity	Condition: not provided not specified Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669556	rs_202112856	11 SubmittersRCV000224664 RCV000318559 RCV000695608 RCV000765373 RCV001126448 RCV001126449 RCV004541364
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)	SNV Germline	Chr8:60855993	Pathogenic	CHARGE syndrome Condition: not provided CHD7-related disorder Joubert syndrome CHD7-related CHARGE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10581478	rs_121434341	10 SubmittersRCV000224986 RCV001731455 RCV003417801 RCV005625462 RCV006554505
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 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	Retinal dystrophy Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related ciliopathy	Reviewed By Expert Panel	CA10581686	rs_878853360	8 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003155133 RCV003469116 RCV005003571 RCV006731861
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)	SNV Germline	Chr12:88140988	Pathogenic	Retinal dystrophy Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis CEP290-related ciliopathy	Reviewed By Expert Panel	CA10581687	rs_878853363	4 SubmittersRCV000225409 RCV001854802 RCV006640493 RCV006731862
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)	SNV Germline	Chr4:15550968	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 6 Joubert syndrome 9 COACH syndrome 1 Meckel-Gruber syndrome Joubert syndrome CC2D2A-related disorder Meckel syndrome, type 6 Joubert syndrome 9 Optic atrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2863889	rs_200764366	8 SubmittersRCV000726192 RCV000765757 RCV001084783 RCV001150183 RCV001150184 RCV001150185 RCV004816441 RCV004816440
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)	SNV Germline	Chr4:15567721	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA2864143	rs_753770061	2 SubmittersRCV000283981 RCV000338996 RCV001421061
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)	SNV Germline	Chr4:15574207	Pathogenic	Condition: not provided Meckel-Gruber syndrome Joubert 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	Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 9 Meckel syndrome, type 6 not specified Condition: not provided CC2D2A-related disorder Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA2864387	rs_117667651	7 SubmittersRCV000233027 RCV000267027 RCV000317484 RCV000363082 RCV001576959 RCV004532860 RCV005895213
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)	SNV Germline	Chr4:15597428	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 9 not specified Meckel syndrome, type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA2864389	rs_186486235	6 SubmittersRCV000229439 RCV000318552 RCV000319463 RCV000385807 RCV006445589
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 Medulloblastoma Joubert syndrome 32 Familial meningioma not specified Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA5667602	rs_377614167	8 SubmittersRCV000232777 RCV000573039 RCV001106675 RCV002264924 RCV005031820 RCV006273681 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	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109944 RCV001109946 RCV001109948 RCV004725118
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 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	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Condition: not provided Inborn genetic diseases Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712316	rs_764963626	9 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV002518359 RCV003227727 RCV004529413
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)	SNV Germline	Chr16:53619079	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome RPGRIP1L-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8057257	rs_142317242	6 SubmittersRCV000232122 RCV000271829 RCV000302183 RCV000359252 RCV001271323 RCV004532945 RCV004955360 RCV006277761
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 Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases MKS1-related disorder Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28	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	Meckel-Gruber syndrome Joubert syndrome Condition: not provided Bardet-Biedl syndrome 13 Meckel syndrome, type 1 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 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 3 Nephronophthisis 11 Joubert syndrome 6 Kidney disorder TMEM67-related disorder Clear cell carcinoma of kidney Thyroid cancer, nonmedullary, 1 Nonpapillary renal cell carcinoma Cervical cancer Ovarian serous cystadenocarcinoma not specified	Criteria Provided Conflicting Classifications	CA4808233	rs_115563233	9 SubmittersRCV000234818 RCV000723708 RCV001087450 RCV001163248 RCV001163250 RCV001163249 RCV002294093 RCV004732810 RCV005895407 RCV005895409 RCV005895405 RCV005895406 RCV005895408 RCV006439859
NM_025114.4(CEP290):c.943-4C>T	SNV Germline	Chr12:88126442	Conflicting classifications of pathogenicity	not specified CEP290-related ciliopathies Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712651	rs_199770158	8 SubmittersRCV000238918 RCV000509374 RCV000727048 RCV001083590 RCV002519864 RCV004816452
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)	SNV Germline	Chr17:6607209	Pathogenic/Likely pathogenic	Orofaciodigital syndrome XV not specified Condition: not provided Joubert syndrome 38 Autosomal recessive KIAA0753-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA10586689	rs_886038200	6 SubmittersRCV000241533 RCV000506654 RCV002305473 RCV003225054 RCV006696368
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 Meckel syndrome, type 1 Joubert syndrome 28 Meckel syndrome, type 1	Criteria Provided Multiple Submitters No Conflicts	CA10586693	rs_886038203	3 SubmittersRCV000241543 RCV005025397 RCV006640515
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 Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA2863464	rs_184351317	3 SubmittersRCV000250811 RCV000308534 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 Meckel-Gruber syndrome Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2863492	rs_116198081	8 SubmittersRCV000252098 RCV000309540 RCV000396897 RCV000860602 RCV001699269
NM_001378615.1(CC2D2A):c.1017+7G>A	SNV Germline	Chr4:15516011	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA2863537	rs_137919504	4 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 Meckel-Gruber syndrome Joubert 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 Joubert syndrome 9 Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert syndrome Lung cancer	Criteria Provided Conflicting Classifications	CA2864452	rs_766203266	4 SubmittersRCV000253082 RCV000339066 RCV000398605 RCV002057437 RCV005891409
NM_001378615.1(CC2D2A):c.*1T>A	SNV Germline	Chr4:15601426	Conflicting classifications of pathogenicity	Joubert syndrome 9 Meckel syndrome, type 6 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2864494	rs_199945435	4 SubmittersRCV000326813 RCV000371188 RCV001548136 RCV000251518
NM_001384732.1(CPLANE1):c.*18G>T	SNV Germline	Chr5:37107584	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3237380	rs_200332492	3 SubmittersRCV000242809 RCV000311369 RCV005894203
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=)	SNV Germline	Chr5:37153938	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 17	Criteria Provided Conflicting Classifications	CA3237849	rs_201122718	6 SubmittersRCV000250100 RCV000946041 RCV001153647
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)	SNV Germline	Chr5:37184866	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238710	rs_150556877	4 SubmittersRCV000245872 RCV000369776 RCV001568573
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=)	SNV Germline	Chr5:37201651	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3238947	rs_141425550	4 SubmittersRCV000248280 RCV001158120 RCV001426492
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=)	SNV Germline	Chr5:37226840	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA3239076	rs_186970259	7 SubmittersRCV000247286 RCV000405811 RCV000841691
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)	SNV Germline	Chr5:37226859	Conflicting classifications of pathogenicity	not specified 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 3 Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4012382	rs_191682790	5 SubmittersRCV000249053 RCV001157121 RCV001462053 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_153704.6(TMEM67):c.120T>C (p.Ser40=)	SNV Germline	Chr8:93755034	Conflicting classifications of pathogenicity	not specified Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Meckel-Gruber syndrome Joubert 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 Meckel-Gruber syndrome Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4807786	rs_372597584	5 SubmittersRCV000254485 RCV000304460 RCV000340533 RCV000405231 RCV000861716 RCV001727664

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

SNV
Germline

Chr11:61393965

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339800

rs_201108965

19 SubmittersRCV000000220 RCV000255378 RCV000465185 RCV000624413 RCV000779066 RCV000409114 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
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA129626

rs_201108965

7 SubmittersRCV000000221 RCV000024013 RCV001038780 RCV005049302

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

SNV
Germline

Chr9:136429731

Pathogenic

MORM syndrome
Joubert syndrome 1
MORM syndrome

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
not specified
INPP5E-related disorder
Joubert syndrome 1
MORM syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA259597

rs_121918129

10 SubmittersRCV000022404 RCV000201569 RCV001073387 RCV003144102 RCV003488316 RCV004755693 RCV005049304

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

SNV
Germline

Chr9:136433182

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259598

rs_121918130

8 SubmittersRCV000022405 RCV000636941 RCV000735369 RCV001267543 RCV001550720 RCV002265543 RCV004532266 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
Joubert syndrome
Meckel-Gruber 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

11 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
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9

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
Joubert syndrome
Meckel-Gruber 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
Joubert syndrome 9/15, digenic
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
See cases
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Inborn genetic diseases
Autosomal recessive CC2D2A-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA129544

rs_386833750

9 SubmittersRCV000000783 RCV000023922 RCV000199602 RCV000578695 RCV002251848 RCV002476904 RCV004795365 RCV005305943 RCV006635403

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

SNV
Germline

Chr4:15567735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA210343

rs_267606709

7 SubmittersRCV000000784 RCV000201781 RCV000729670 RCV001383566 RCV005031375 RCV006635404

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

SNV
Germline

Chr16:53686512

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251689

rs_121918198

9 SubmittersRCV000001124 RCV000393725 RCV000689745 RCV001271279 RCV002482812 RCV003155007 RCV004528062

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

SNV
Germline

Chr16:53686452

Pathogenic

Joubert syndrome 7
Joubert syndrome
Meckel-Gruber 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

Likely pathogenic

Joubert syndrome 7
Joubert syndrome

Criteria Provided
Single Submitter

CA251694

rs_121918200

2 SubmittersRCV000001126 RCV005606630

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

SNV
Germline

Chr16:53692201

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114729

rs_121918201

3 SubmittersRCV000001127 RCV001042174 RCV006638509

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

SNV
Germline

Chr16:53671580

Pathogenic

Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Autosomal recessive RPGRIP1L-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA114732

rs_121918202

3 SubmittersRCV000001128 RCV003764506 RCV006694407

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

SNV
Germline

Chr16:53645694

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA130771

rs_121918203

7 SubmittersRCV000033207 RCV000779628 RCV000790748 RCV000762961 RCV001059320 RCV001831501 RCV004017218 RCV005007803

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

SNV
Germline

Chr16:53652637

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251696

rs_121918204

10 SubmittersRCV000001131 RCV000762962 RCV000824619 RCV001271277 RCV001813927 RCV001781157 RCV005007804

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

SNV
Germline

Chr16:53645895

Pathogenic/Likely 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 RCV001382825 RCV001831502 RCV002490288

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

SNV
Germline

Chr16:53652712

Pathogenic

COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Single Submitter

CA210651

rs_267607020

2 SubmittersRCV000001135 RCV000201757

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

SNV
Germline

Chr12:88077263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150917

rs_137852832

34 SubmittersRCV000001396 RCV000086298 RCV000114202 RCV000531295 RCV000515339 RCV000787813 RCV001073790 RCV001000092 RCV001002714 RCV001261607 RCV001276487 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV003147273 RCV004798711

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

SNV
Germline

Chr12:88141287

Likely pathogenic

Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related ciliopathy

Reviewed By Expert Panel

CA227962

rs_62635288

7 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540 RCV006731761

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

SNV
Germline

Chr12:88101183

Pathogenic

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

Reviewed By Expert Panel

CA227965

rs_281865192

28 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000678535 RCV000763315 RCV000988884 RCV001075828 RCV001196010 RCV001255341 RCV001731267 RCV001831503 RCV003460403 RCV006695480 RCV006731762

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

SNV
Germline

Chr12:88111320

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339890

rs_137852833

4 SubmittersRCV000001401 RCV001851541 RCV003466777 RCV006638513

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

SNV
Germline

Chr12:88083936

Pathogenic

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

Reviewed By Expert Panel

CA251751

rs_137852834

26 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV001002715 RCV001046610 RCV001831504 RCV003492281 RCV003155008 RCV003466778 RCV004975257 RCV005887184

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

SNV
Germline

Chr12:88130324

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

10 SubmittersRCV000001407 RCV001042869 RCV001257362 RCV001274134 RCV001376372 RCV001781163 RCV002496228 RCV003466779 RCV003887847 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
Joubert syndrome
Meckel-Gruber 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
Joubert syndrome
Meckel-Gruber 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
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA213073

rs_199821258

11 SubmittersRCV000001439 RCV000050199 RCV001698938 RCV001851545 RCV002281687 RCV004732520

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
TMEM67-related disorder
Joubert syndrome
Meckel-Gruber syndrome
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 RCV000334857 RCV000468558 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
Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 6
RHYNS syndrome
COACH syndrome 1
not specified
TMEM67-related disorder
Familial pancreatic carcinoma
Thyroid cancer, nonmedullary, 1
6 conditions

Criteria Provided
Conflicting Classifications

CA114968

rs_111619594

16 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158405 RCV001158406 RCV001085857 RCV001158404 RCV001198570 RCV001333012 RCV003488318 RCV004528064 RCV005887185 RCV005887186 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
6 conditions
Joubert syndrome and related disorders
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 6
COACH syndrome 1
RHYNS syndrome
Nephronophthisis 11
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210657

rs_267607119

13 SubmittersRCV000001445 RCV000001446 RCV000995902 RCV001536092 RCV001804708 RCV000821785 RCV001310635 RCV005357054 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
Joubert syndrome
Meckel-Gruber 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
Joubert syndrome
Meckel-Gruber 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
Joubert syndrome
Renal cyst
Oligohydramnios
TMEM67-related disorder
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
14 conditions
Nephronophthisis 11
COACH syndrome 1
Joubert syndrome 6
Meckel syndrome, type 3
Bardet-Biedl syndrome 14
RHYNS syndrome
6 conditions
Nephronophthisis 11
RHYNS syndrome
COACH syndrome 1
Joubert syndrome 6
Joubert syndrome and related disorders
Cholestatic liver disease

Criteria Provided
Multiple Submitters
No Conflicts

CA114977

rs_201893408

19 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000415055 RCV000283682 RCV000479077 RCV000534533 RCV000623857 RCV000627004 RCV000763610 RCV001197497 RCV005041963 RCV005357055 RCV005887187 RCV006647169

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

SNV
Germline

Chr8:93808861

Pathogenic

Nephronophthisis 11
Joubert syndrome 6

No Assertion Criteria Provided

CA114985

rs_267607116

1 SubmittersRCV000001454 RCV000001455

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

SNV
Germline

Chr8:93755044

Pathogenic

Joubert syndrome 6
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA251770

rs_267607118

2 SubmittersRCV000001456 RCV001851547

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

SNV
Germline

Chr8:93780633

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251773

rs_202149403

16 SubmittersRCV000001457 RCV000234813 RCV000418247 RCV001389251 RCV002490292 RCV004689399 RCV004732521 RCV006635406

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

SNV
Germline

Chr17:58219149

Pathogenic/Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342696

rs_199874059

9 SubmittersRCV000022414 RCV000668139 RCV001038005 RCV001570919 RCV003472957 RCV004732522

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

SNV
Germline

Chr17:58216088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213122

rs_386834048

22 SubmittersRCV000022415 RCV000201633 RCV000341018 RCV000694137 RCV000605128 RCV000666711 RCV001123802 RCV004018536 RCV004528065 RCV005887189 RCV005887188

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

SNV
Germline

Chr17:58206479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA251777

rs_137853105

12 SubmittersRCV000001458 RCV000665962 RCV000626942 RCV001239533 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

4 SubmittersRCV000002089 RCV000162132

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

SNV
Germline

Chr6:135447022

Pathogenic

Joubert syndrome 3
Condition: not provided
Rod-cone dystrophy
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA252046

rs_267606641

8 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

11 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
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
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
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 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
Retinal dystrophy
Inborn genetic diseases
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA116310

rs_121907899

16 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004814818 RCV004018547 RCV005025001 RCV005887256 RCV005887255

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
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA259900

rs_201391050

7 SubmittersRCV000023739 RCV000255060 RCV001074225 RCV001172379 RCV001390240 RCV006698004

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
Joubert syndrome
Meckel-Gruber 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 and related disorders
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA129649

rs_374349989

13 SubmittersRCV000024072 RCV000305893 RCV000727919 RCV001261610 RCV002513219 RCV003987331 RCV003993750 RCV005007893

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
Condition: not provided
Joubert syndrome and related disorders
TMEM237-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA260000

rs_199469707

15 SubmittersRCV000024179 RCV000034999 RCV001701641 RCV002265568 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
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA222872146

rs_917404097

7 SubmittersRCV000024186 RCV002271376 RCV004724755 RCV005888664

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342792

rs_367543062

7 SubmittersRCV000024219 RCV000763545 RCV004526599 RCV005234796 RCV005888665

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

6 SubmittersRCV000024221 RCV001781313 RCV002496440

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

SNV
Germline

Chr5:37165595

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342796

rs_139675596

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA130048

rs_387907273

3 SubmittersRCV000030712 RCV001852611 RCV005638408

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA130590

rs_397514609

3 SubmittersRCV000033041 RCV002513310 RCV006262332

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
Joubert syndrome and related disorders
Inborn genetic diseases
TMEM231-related disorder

Criteria Provided
Conflicting Classifications

CA130593

rs_200799769

8 SubmittersRCV000033042 RCV000255979 RCV000543480 RCV003155046 RCV002513311 RCV004755755

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

SNV
Germline

ChrX:13753411

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA343946

rs_312262863

5 SubmittersRCV000033955 RCV001781339 RCV002514145

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

SNV
Germline

ChrX:13736487

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA343958

rs_312262810

2 SubmittersRCV001383219 RCV002496509

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

SNV
Germline

ChrX:13736626

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome
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
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA144216

rs_386833747

5 SubmittersRCV000049711 RCV002513686 RCV005250005 RCV006698029

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

SNV
Germline

Chr4:15557451

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144217

rs_386833748

4 SubmittersRCV000049712 RCV000778721 RCV001753469 RCV001853048

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

SNV
Germline

Chr4:15567729

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144225

rs_386833752

6 SubmittersRCV000049716 RCV000201581 RCV001007916 RCV001539860 RCV002514252 RCV006684521

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

SNV
Germline

Chr4:15569290

Likely pathogenic

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

Criteria Provided
Conflicting Classifications

CA144229

rs_386833755

8 SubmittersRCV000049719 RCV001723639 RCV001378831 RCV003335082 RCV005031533

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

SNV
Germline

Chr4:15510217

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144239

rs_386833763

7 SubmittersRCV000049727 RCV001853050 RCV004700347 RCV005031535

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
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA144308

rs_11230683

13 SubmittersRCV000049797 RCV000201650 RCV000760437 RCV000779067 RCV000822982 RCV001787335

NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro)

SNV
Germline

Chr16:53652858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA144362

rs_386833997

3 SubmittersRCV000049974 RCV002514257 RCV006638801

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

SNV
Germline

Chr17:58214784

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344757

rs_386834050

6 SubmittersRCV000050036 RCV000760436 RCV001382376 RCV003474635 RCV004732640

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

SNV
Germline

Chr17:58214740

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344762

rs_201933838

9 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
Meckel syndrome, type 1
Leber congenital amaurosis 6
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA344764

rs_386834053

8 SubmittersRCV000050040 RCV000735871 RCV000735097 RCV001853066 RCV003474638 RCV005025107

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

SNV
Germline

Chr12:88114488

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Condition: not provided
CEP290-related disorder
Senior-Loken syndrome 1
Autosomal recessive CEP290-related disorders
CEP290-related ciliopathy

Reviewed By Expert Panel

CA144389

rs_386834152

14 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787812 RCV000787559 RCV001376367 RCV002504949 RCV003460645 RCV002285263 RCV004732641 RCV005644503 RCV006695538 RCV006731775

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

SNV
Germline

Chr12:88139153

Pathogenic/Likely pathogenic

Meckel syndrome, type 4
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Retinal dystrophy
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA144391

rs_386834153

11 SubmittersRCV000050147 RCV001053674 RCV001091341 RCV001274137 RCV003466923 RCV004760362 RCV004814991 RCV005632219

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

SNV
Germline

Chr8:93781725

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144430

rs_386834180

10 SubmittersRCV000050175 RCV000114240 RCV000201777 RCV000560903 RCV000778866 RCV001267954 RCV002477175

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

SNV
Germline

Chr8:93786253

Pathogenic/Likely pathogenic

Meckel syndrome, type 3
Condition: not provided
Joubert syndrome and related disorders
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA144435

rs_386834182

11 SubmittersRCV000050177 RCV000430117 RCV001804788 RCV001853069 RCV006659182 RCV005042162

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

SNV
Germline

Chr8:93786256

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144439

rs_386834183

3 SubmittersRCV000050178 RCV000823807 RCV005394287

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

SNV
Germline

Chr8:93787843

Pathogenic

Meckel syndrome, type 3
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome 20
Meckel syndrome, type 11

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

4 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
Senior-Loken syndrome 1
Nephronophthisis 1
Retinal dystrophy
Inborn genetic diseases
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA220570

rs_189320299

7 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV004815000 RCV002514380 RCV004734635

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

SNV
Germline

ChrX:13735289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223182

rs_201380599

8 SubmittersRCV000081722 RCV000636978 RCV001118787 RCV001120738 RCV001120739 RCV001573698

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

SNV
Germline

Chr16:53641066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA148755

rs_144313291

9 SubmittersRCV000081725 RCV000280063 RCV000323400 RCV000547462 RCV000372251 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
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298

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

SNV
Germline

Chr3:132692760

Pathogenic/Likely pathogenic

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

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

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
Retinitis pigmentosa
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA149747

rs_431905521

9 SubmittersRCV000083297 RCV000626469 RCV000515922 RCV004579537 RCV004815018 RCV005016363 RCV006698046

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

SNV
Germline

Chr12:88089247

Pathogenic

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

Reviewed By Expert Panel

CA227967

rs_62640581

10 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011 RCV006731784

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

SNV
Germline

Chr12:88083888

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

11 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001335142 RCV001723671 RCV001276492 RCV002227445 RCV003467014 RCV005008009 RCV006645455

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

6 SubmittersRCV000087066 RCV004719692 RCV004757126

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

SNV
Germline

Chr8:67172556

Pathogenic

Joubert syndrome 21
Squamous cell lung carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA150610

rs_587777142

4 SubmittersRCV000087070 RCV005887785

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

SNV
Germline

Chr8:67095440

Pathogenic

Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA150612

rs_375113643

4 SubmittersRCV000087072

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

SNV
Germline

Chr8:67095434

Pathogenic

Joubert syndrome 21

No Assertion Criteria Provided

CA150616

rs_587777146

1 SubmittersRCV000087075

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

SNV
Germline

Chr8:67164468

Pathogenic

Joubert syndrome 21

No Assertion Criteria Provided

CA150618

rs_537456518

1 SubmittersRCV000087076

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

SNV
Germline

Chr2:231738139

Pathogenic

Joubert syndrome 22

No Assertion Criteria Provided

CA150641

rs_587777156

1 SubmittersRCV000087137

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

SNV
Germline

Chr4:15533245

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150849

rs_144439937

12 SubmittersRCV000114164 RCV000423044 RCV001082503 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
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert 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
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA150875

rs_377177061

10 SubmittersRCV000114178 RCV000596321 RCV001074483 RCV001056175 RCV003317090 RCV005025174 RCV004698824

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

SNV
Germline

Chr4:15596154

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA150915

rs_61941020

19 SubmittersRCV000114201 RCV000292636 RCV000336982 RCV000352237 RCV000399104 RCV000407985 RCV000436165 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
Joubert syndrome 24
Condition: not provided

Criteria Provided
Conflicting Classifications

CA150964

rs_79251326

9 SubmittersRCV000114230 RCV000204827 RCV000625192 RCV001110871 RCV003390794

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
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA150984

rs_35765535

9 SubmittersRCV000114242 RCV000200297 RCV001161604 RCV001719853 RCV005887851 RCV005887852 RCV005887853 RCV005887850

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

9 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
Meckel-Gruber syndrome
Joubert 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
Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA162216

rs_368178771

9 SubmittersRCV000122098 RCV000471241 RCV000562404 RCV000763642 RCV000726658 RCV003460861

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

SNV
Germline

Chr10:102615273

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162222

rs_79299301

11 SubmittersRCV000122100 RCV000260834 RCV000466509 RCV000566455 RCV000763641 RCV001354923 RCV004737208 RCV003467081

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

SNV
Germline

Chr10:102615350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162225

rs_149449923

9 SubmittersRCV000122101 RCV000525787 RCV001009905 RCV003126503 RCV005025197 RCV004567055

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

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

8 SubmittersRCV000124246 RCV000293222 RCV000279934 RCV000337209 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
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

9 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000319253 RCV000354431 RCV000322977 RCV000472139 RCV001276489 RCV001812002 RCV002294038

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

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

13 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001110731 RCV001110732 RCV001109949 RCV001109950 RCV001272010 RCV003888568 RCV005886947 RCV005886946

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
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Bardet-Biedl syndrome 14
Retinal dystrophy
Meckel syndrome, type 3
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

9 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV006454658 RCV005867926 RCV006638876

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

SNV
Germline

Chr6:135433119

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA270780

rs_587783013

10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV003495112 RCV001262092

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
CEP290-related ciliopathy

Reviewed By Expert Panel

CA277711

rs_587783016

6 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203 RCV006731803

NM_001384732.1(CPLANE1):c.3290-2A>G

SNV
Germline

Chr5:37201810

Pathogenic/Likely pathogenic

Orofaciodigital syndrome type 6
Orofaciodigital syndrome type 6
Joubert syndrome 17

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

6 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
Clear cell carcinoma of kidney
Thymoma
Thyroid cancer, nonmedullary, 1
Acute myeloid leukemia
Lung cancer
Sarcoma

Criteria Provided
Conflicting Classifications

CA271181

rs_149313666

12 SubmittersRCV000145369 RCV000248133 RCV000430074 RCV005887065 RCV005887067 RCV005887068 RCV005887064 RCV005887069 RCV005887066

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

SNV
Germline

Chr5:37138838

Conflicting classifications of pathogenicity

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

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA272717

rs_199529768

3 SubmittersRCV000147738 RCV002055937 RCV006386760

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

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001109956 RCV001110741 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
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis
Atypical hemolytic-uremic syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110570 RCV001110567 RCV001110568 RCV001110569 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
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis
Intellectual disability

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114080 RCV001114077 RCV001114078 RCV001114079 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
Joubert syndrome
Nephronophthisis
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
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Nephronophthisis 1
Condition: not provided
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA234415

rs_140446520

9 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425 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

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Condition: not provided
CC2D2A-related disorder
Meckel syndrome, type 6
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA210291

rs_200407856

9 SubmittersRCV000198057 RCV000201663 RCV000597652 RCV004732713 RCV005031661 RCV006698096

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

SNV
Germline

Chr4:15516648

Conflicting classifications of pathogenicity

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 SubmittersRCV000316406 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

4 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
Joubert syndrome
Nephronophthisis

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
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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000291841 RCV000346891 RCV000344957 RCV000399776 RCV000400108 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
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA234809

rs_146902870

9 SubmittersRCV000252274 RCV000475862 RCV001116967 RCV001116966 RCV001116965 RCV001704116 RCV002294053

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

SNV
Germline

Chr17:58206158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA273756

rs_199910690

9 SubmittersRCV000161135 RCV000324288 RCV001082780 RCV001272920 RCV001252740 RCV001797645 RCV002467638 RCV004724951

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

Typical Joubert syndrome MRI findings
Global developmental delay
Joubert syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA249937

rs_730882221

5 SubmittersRCV000162131 RCV000201626

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

SNV
Germline

Chr16:53696150

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA334279

rs_786204135

3 SubmittersRCV000168110 RCV001378306 RCV001536099

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

SNV
Germline

Chr17:58216694

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA334638

rs_786204222

4 SubmittersRCV000168353 RCV000665745 RCV006261953 RCV006731817

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235986

rs_756368560

4 SubmittersRCV000171264 RCV001063303 RCV001826869 RCV003474920

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

SNV
Germline

Chr4:15596208

Pathogenic

Condition: not provided
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA236210

rs_786205568

2 SubmittersRCV000171374 RCV003987411

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

SNV
Germline

Chr16:75556131

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA238698

rs_569734777

5 SubmittersRCV000173235 RCV000345023 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

5 SubmittersRCV000724112 RCV001510325

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

SNV
Germline

Chr2:110161690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239098

rs_371112962

4 SubmittersRCV000173662 RCV000305677 RCV000353470 RCV000390136 RCV001094562

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

SNV
Germline

Chr2:110161645

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 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
Joubert syndrome
Orofaciodigital syndrome I
Congenital anomaly of kidney and urinary tract
OFD1-related disorder
Nonpapillary renal cell carcinoma
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA239242

rs_199902986

6 SubmittersRCV000173783 RCV001088503 RCV001254710 RCV004535188 RCV005889712 RCV005889711

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

SNV
Germline

Chr16:53664957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239324

rs_137982921

14 SubmittersRCV000307599 RCV000339807 RCV000401583 RCV000697464 RCV000765297 RCV000724780 RCV001271337 RCV002516602 RCV004539604 RCV004816258

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

SNV
Germline

Chr16:53658782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200839

rs_138155747

13 SubmittersRCV000174130 RCV000223981 RCV001082949 RCV001120841 RCV001271335

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

SNV
Germline

Chr5:37227308

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA239661

rs_374411782

7 SubmittersRCV000325656 RCV000724006 RCV001193382

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

SNV
Germline

Chr5:37227353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200857

rs_139940282

5 SubmittersRCV000174162 RCV000361636 RCV000646719 RCV004020065

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

SNV
Germline

Chr8:93782407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200867

rs_140191346

7 SubmittersRCV000174181 RCV000988094 RCV001356583 RCV001409831 RCV004539607

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

SNV
Germline

Chr4:15516723

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239791

rs_760839591

4 SubmittersRCV000174275 RCV001423715 RCV002516624

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

SNV
Germline

Chr12:110645106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
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
not specified
TCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA240051

rs_368907353

6 SubmittersRCV000724086 RCV002056921 RCV003150968 RCV003895182

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

SNV
Germline

Chr2:110146839

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240230

rs_151204566

8 SubmittersRCV000174670 RCV000230927 RCV001128804 RCV001128803 RCV001128802 RCV001699052

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

SNV
Germline

Chr16:53652875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240561

rs_779429646

5 SubmittersRCV000174930 RCV001088867 RCV001271330 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

4 SubmittersRCV000174951 RCV000611123

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

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

10 SubmittersRCV000174953 RCV000835406 RCV001084413 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001112002

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

SNV
Germline

ChrX:13760628

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240715

rs_746300545

3 SubmittersRCV000175046 RCV000701169 RCV004821992

NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)

SNV
Germline

Chr6:135431299

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA240759

rs_794727174

6 SubmittersRCV000175088 RCV000185588 RCV001053820

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

SNV
Germline

Chr4:15537971

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240849

rs_201439617

7 SubmittersRCV000724892 RCV000765755 RCV001147083 RCV001147084 RCV001479910 RCV004020077

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

SNV
Germline

Chr4:15538112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206244

rs_16892134

11 SubmittersRCV000193025 RCV000351496 RCV000404783 RCV000514696 RCV001083444

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

SNV
Germline

Chr16:53645869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201346

rs_139503476

7 SubmittersRCV000175209 RCV000514096 RCV001082641 RCV001120643 RCV001120644 RCV001120642 RCV004537378

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

Criteria Provided
Conflicting Classifications

CA201370

rs_190698163

7 SubmittersRCV000175280 RCV000863197 RCV001711970 RCV004539627 RCV005305973

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
Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 1
CC2D2A-related disorder
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA241005

rs_200236654

9 SubmittersRCV000175281 RCV001145224 RCV001145223 RCV001239969 RCV001329599 RCV004537379 RCV004965296 RCV004816268

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

SNV
Germline

Chr4:15540994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201373

rs_199768782

8 SubmittersRCV000175282 RCV000987417 RCV000860615 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
Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA241966

rs_373772212

5 SubmittersRCV000176103 RCV001396553 RCV001698990

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

SNV
Germline

Chr8:93799649

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242109

rs_781383498

3 SubmittersRCV000176240 RCV003765092 RCV006262334

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

SNV
Germline

Chr5:37187826

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242230

rs_145520487

9 SubmittersRCV000201620 RCV000254359 RCV000724250 RCV004020091

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

SNV
Germline

Chr2:165890935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201936

rs_146496725

13 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001085304 RCV001135581 RCV001135582 RCV001171333 RCV002277374

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

SNV
Germline

Chr12:88107095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242475

rs_371159780

5 SubmittersRCV000176500 RCV001074978 RCV001086387 RCV003150970

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_001173990.3(TMEM216):c.211G>T (p.Val71Leu)

SNV
Germline

Chr11:61393958

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Joubert syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202293

rs_57932685

6 SubmittersRCV000177125 RCV000533045 RCV001279272 RCV006439705

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

SNV
Germline

Chr17:58216714

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346867

rs_142813109

15 SubmittersRCV000177294 RCV000351197 RCV000399365 RCV000514445 RCV001079449 RCV004528943

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

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944

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

SNV
Germline

Chr12:88087872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA244173

rs_184143186

9 SubmittersRCV000177662 RCV001080328 RCV001273073 RCV003150971 RCV004975310

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

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

11 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864 RCV005003531 RCV004816287

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

SNV
Germline

Chr12:88080402

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

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

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

SNV
Germline

Chr16:53692113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245348

rs_74957591

6 SubmittersRCV000178300 RCV001080714 RCV001271342 RCV004537460 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

7 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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome 17
not specified
See cases
Orofaciodigital syndrome type 6
CPLANE1-related disorder
Inborn genetic diseases
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA275274

rs_151279194

16 SubmittersRCV000178539 RCV000778764 RCV001824663 RCV002287379 RCV003457649 RCV004752779 RCV004020124 RCV005031712

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

SNV
Germline

Chr5:37125240

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder
Clear cell carcinoma of kidney
Melanoma
Malignant tumor of esophagus
Colon adenocarcinoma
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Uveal melanoma
Thymoma
Malignant tumor of urinary bladder
Intellectual disability
Nonpapillary renal cell carcinoma
Cervical cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA245783

rs_199810663

11 SubmittersRCV000247706 RCV000321409 RCV000428354 RCV003891741 RCV005891973 RCV005891979 RCV005891970 RCV005891968 RCV005891975 RCV005891976 RCV005891977 RCV005891974 RCV005891978 RCV005891969 RCV005621904 RCV005891971 RCV005891972 RCV005891967

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

SNV
Germline

Chr12:88060900

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202959

rs_191613017

5 SubmittersRCV000178636 RCV000637007 RCV001272011 RCV001697163

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

SNV
Germline

Chr12:88060026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245909

rs_774162169

4 SubmittersRCV000178744 RCV003586162 RCV004539674 RCV005025286

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

SNV
Germline

Chr4:15480745

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246806

rs_149925563

9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001132639 RCV001087340 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
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 8

Criteria Provided
Conflicting Classifications

CA246813

rs_149430216

8 SubmittersRCV000249746 RCV000724485 RCV001110188 RCV001086250 RCV001114227

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
Sarcoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA203333

rs_147485641

8 SubmittersRCV000179535 RCV000556780 RCV001112867 RCV001112868 RCV001550115 RCV005892037 RCV005892038

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

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

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

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

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

13 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490 RCV005008108 RCV005305978

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

SNV
Germline

Chr4:15502836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA203454

rs_186264635

7 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203516

rs_144567556

8 SubmittersRCV000179977 RCV000275193 RCV000327984 RCV000465788 RCV001721126

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247572

rs_118057448

7 SubmittersRCV000180204 RCV001111502 RCV001323802 RCV005749522

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

SNV
Germline

Chr6:135457612

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA247748

rs_200927282

7 SubmittersRCV000250813 RCV000724880 RCV001155546 RCV001206260 RCV002517761 RCV004816310

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

SNV
Germline

Chr4:15511309

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA204047

rs_757350052

9 SubmittersRCV000186591 RCV000479178 RCV000652577 RCV006456812

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
Orofacial-digital syndrome IV
Joubert syndrome 18
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA204583

rs_764091969

4 SubmittersRCV000190630 RCV002517029 RCV006688594

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

SNV
Germline

Chr14:58428458

Pathogenic

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

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
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

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

Criteria Provided
Conflicting Classifications

CA208880

rs_16892134

6 SubmittersRCV000194608 RCV000862063 RCV001149616 RCV001149617 RCV001705077

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

SNV
Germline

Chr4:15557361

Pathogenic/Likely pathogenic

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA209079

rs_764719093

6 SubmittersRCV000194720 RCV000763523 RCV003238731 RCV003765214 RCV004528978 RCV005025311

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

Criteria Provided
Conflicting Classifications

CA205784

rs_370492044

6 SubmittersRCV000192749 RCV000293449 RCV000348318 RCV001521745 RCV001697269 RCV004541237

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

SNV
Germline

Chr4:15589661

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA209579

rs_372671421

10 SubmittersRCV000195028 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
Uterine corpus endometrial carcinoma
Thyroid cancer, nonmedullary, 1
Thymoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA208963

rs_148005445

9 SubmittersRCV000194651 RCV000878808 RCV001157836 RCV003927768 RCV005892252 RCV005892251 RCV005892250 RCV005892249

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

SNV
Germline

Chr5:37183664

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided
Intellectual disability

Criteria Provided
Conflicting Classifications

CA206075

rs_141911199

11 SubmittersRCV000192922 RCV000625259 RCV000726605 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
Meckel-Gruber syndrome
Joubert 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
MORM syndrome
Joubert syndrome 1
Condition: not provided
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA209401

rs_199873582

8 SubmittersRCV000194920 RCV001044083 RCV001166425 RCV002517084 RCV004528981 RCV005042414 RCV005252804 RCV006456823

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

SNV
Germline

Chr12:88071409

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Nephronophthisis
Joubert 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
Meckel-Gruber syndrome
Nephronophthisis
Joubert 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
Meckel-Gruber syndrome
Nephronophthisis
Joubert 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
Joubert syndrome 7
Condition: not provided
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207998

rs_146197239

10 SubmittersRCV000194076 RCV000861106 RCV001117063 RCV001117062 RCV001117064 RCV001698998 RCV001833139 RCV002517128

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

SNV
Germline

Chr16:53687963

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206389

rs_140067659

9 SubmittersRCV000193122 RCV000861107 RCV001120943 RCV001120942 RCV001120944 RCV001271340 RCV001699228 RCV004020339

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

SNV
Germline

Chr16:75540054

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 11
Joubert syndrome 20

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

11 SubmittersRCV000193368 RCV000224657 RCV001082508 RCV001128313 RCV001128312

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

SNV
Germline

Chr17:58208112

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Joubert 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
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347417

rs_797045706

6 SubmittersRCV000194216 RCV000672938 RCV003474946 RCV003765230

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

SNV
Germline

ChrX:13757717

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Orofaciodigital syndrome I

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

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

Criteria Provided
Single Submitter

CA347348

rs_797044604

2 SubmittersRCV000192446 RCV006640445

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
Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA336743

rs_780427871

6 SubmittersRCV000196832 RCV000730183 RCV001128695 RCV001128696 RCV001135698 RCV002282034 RCV002478707 RCV002517295

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

SNV
Germline

Chr4:15563386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA338306

rs_373960465

8 SubmittersRCV000350715 RCV000344416 RCV000405623 RCV001087622 RCV002227457 RCV004530191

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

SNV
Germline

Chr6:135318527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA335852

rs_201148693

5 SubmittersRCV000195696 RCV000248598 RCV001157001 RCV001252130 RCV001596984

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

SNV
Germline

Chr6:135457656

Conflicting classifications of pathogenicity

Joubert syndrome
not specified
Joubert syndrome 3
Condition: not provided
Inborn genetic diseases
AHI1-related disorder
Cholangiocarcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA338680

rs_200201741

9 SubmittersRCV000199507 RCV000346238 RCV001157230 RCV001576697 RCV002517286 RCV003927849 RCV005893571 RCV005893572

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

SNV
Germline

Chr8:93755100

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA336379

rs_115660279

7 SubmittersRCV000196386 RCV000245192 RCV000291370 RCV000339372 RCV000377674 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
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA277789

rs_775883520

13 SubmittersRCV000198666 RCV000201726 RCV000624166 RCV001090385 RCV001814102 RCV004798803 RCV005042429

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

SNV
Germline

Chr3:93995879

Conflicting classifications of pathogenicity

Joubert syndrome 8

Criteria Provided
Conflicting Classifications

CA279441

rs_863225149

2 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
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210338

rs_773881370

6 SubmittersRCV000201775 RCV001853233 RCV004796099

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

SNV
Germline

Chr4:15563395

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
CC2D2A-related disorder
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
Meckel syndrome, type 6
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA210269

rs_370880399

12 SubmittersRCV000201572 RCV000489696 RCV000702498 RCV000763524 RCV000778722 RCV005031762 RCV005052801 RCV005893613

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

SNV
Germline

Chr4:15563474

Pathogenic/Likely pathogenic

Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA279522

rs_863225173

3 SubmittersRCV000201741 RCV003765303 RCV005791834

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

SNV
Germline

Chr4:15567482

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA279438

rs_863225170

3 SubmittersRCV000201640 RCV003330577 RCV006555667

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

SNV
Germline

Chr4:15570501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA279555

rs_863225181

3 SubmittersRCV000201770 RCV000319494 RCV001853234

NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)

SNV
Germline

Chr4:15574151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA210331

rs_760918829

7 SubmittersRCV000201761 RCV000728362 RCV001059471 RCV001147664 RCV001266379

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210258

rs_779823379

6 SubmittersRCV000201552 RCV001261604 RCV001853232 RCV005031761 RCV005639089

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

SNV
Germline

Chr4:15586154

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA210298

rs_576298659

4 SubmittersRCV000201676 RCV002519579 RCV004816346 RCV005031765

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

SNV
Germline

Chr4:15586170

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA210320

rs_763486732

5 SubmittersRCV000201714 RCV001067961 RCV003144159 RCV003323453 RCV005031764

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
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279397

rs_863225168

2 SubmittersRCV000201598 RCV003765301

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

SNV
Germline

Chr4:15597460

Pathogenic/Likely pathogenic

Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279430

rs_863225179

2 SubmittersRCV000201637 RCV006555668

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

SNV
Germline

Chr4:15599632

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210318

rs_201502401

20 SubmittersRCV000201706 RCV000286210 RCV000347415 RCV000474430 RCV000778102 RCV001266486 RCV001542750 RCV002277554 RCV003317149 RCV005365132 RCV004816345 RCV005031763

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277758

rs_374144275

10 SubmittersRCV000201669 RCV000357854 RCV000697060 RCV001849341 RCV002252055 RCV002298520

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

SNV
Unknown

Chr5:37122429

Pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

CA279532

rs_863225154

1 SubmittersRCV000201749

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

SNV
Germline

Chr5:37122429

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279466

rs_863225154

6 SubmittersRCV000201659 RCV000987513 RCV001857740 RCV002500627

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
CPLANE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277737

rs_147416429

8 SubmittersRCV000201628 RCV001332490 RCV002517309 RCV005042430 RCV006261959

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

SNV
Germline

Chr5:37157810

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277813

rs_749523755

16 SubmittersRCV000201773 RCV000255254 RCV000415153 RCV000646703 RCV001198869 RCV006456832

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

SNV
Germline

Chr5:37158258

Pathogenic/Likely pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279479

rs_863225159

4 SubmittersRCV000201681 RCV003987448 RCV004767146

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
Orofaciodigital syndrome type 6
Joubert syndrome 17

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
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA277773

rs_530569572

8 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

12 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277806

rs_368788993

3 SubmittersRCV000201756 RCV005237713 RCV005645035

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

SNV
Germline

Chr6:135427244

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279374

rs_863225135

6 SubmittersRCV000201566 RCV001091216 RCV001240194 RCV003407712

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

SNV
Germline

Chr6:135428757

Pathogenic/Likely pathogenic

Joubert syndrome 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279357

rs_863225131

2 SubmittersRCV000201542 RCV003114363

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

SNV
Unknown

Chr6:135431220

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA279355

rs_863225146

1 SubmittersRCV000201540

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

SNV
Germline

Chr6:135431284

Pathogenic/Likely pathogenic

Joubert syndrome 3
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279563

rs_863225139

3 SubmittersRCV000201786 RCV003495118 RCV006555666

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

SNV
Germline

Chr6:135433081

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Retinitis pigmentosa
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277726

rs_372659908

7 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
Joubert syndrome
Condition: not provided
Retinal dystrophy
Nephronophthisis
Rod-cone dystrophy
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA339611

rs_777668842

9 SubmittersRCV000201715 RCV000206729 RCV000482493 RCV001074545 RCV001328119 RCV001376375 RCV003317148

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

SNV
Germline

Chr6:135455818

Pathogenic

Joubert syndrome 3
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
See cases
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279546

rs_863225142

4 SubmittersRCV000201760 RCV002287391 RCV003330575

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

SNV
Germline

Chr6:135465901

Pathogenic

Joubert syndrome 3
Joubert syndrome and related disorders
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279475

rs_863225138

4 SubmittersRCV000201668 RCV002469064 RCV003765300

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

SNV
Germline

Chr8:67095733

Pathogenic

Joubert syndrome 21
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279386

rs_863225194

3 SubmittersRCV000201587 RCV001847909

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

SNV
Germline

Chr8:67111983

Pathogenic/Likely pathogenic

Joubert syndrome 21
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210307

rs_374703898

4 SubmittersRCV000201690 RCV000520785

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

SNV
Germline

Chr8:67118822

Pathogenic

Joubert syndrome 21
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279533

rs_863225193

3 SubmittersRCV000201750 RCV006250265

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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome 6
Cholestatic liver disease
Joubert syndrome and related disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA277766

rs_750950408

6 SubmittersRCV000201683 RCV001853242 RCV005621916 RCV006648385 RCV006456834 RCV006659308

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
6 conditions
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279411

rs_863225227

3 SubmittersRCV000201614 RCV002500631 RCV002517316

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

SNV
Germline

Chr8:93780985

Conflicting classifications of pathogenicity

Joubert syndrome 6
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA277782

rs_775256658

2 SubmittersRCV000201705 RCV001853241

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

SNV
Germline

Chr8:93782402

Pathogenic/Likely pathogenic

Joubert syndrome 6
TMEM67-related disorder
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279392

rs_863225232

4 SubmittersRCV000201590 RCV004528990 RCV005222828

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
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA279345

rs_863225235

5 SubmittersRCV000201528 RCV000419395 RCV000636949 RCV002478718

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

SNV
Unknown

Chr8:93782455

Pathogenic

Joubert syndrome 6

Criteria Provided
Single Submitter

CA279510

rs_863225231

1 SubmittersRCV000201732

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

SNV
Germline

Chr8:93786255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA277817

rs_752362727

6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV005042432 RCV003997037

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

SNV
Germline

Chr8:93786285

Pathogenic

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

Criteria Provided
Conflicting Classifications

CA279453

rs_863225238

7 SubmittersRCV000201654 RCV001161723 RCV001163244 RCV001307480 RCV005042433 RCV005437985

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

SNV
Germline

Chr8:93803652

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277715

rs_751517725

6 SubmittersRCV000201592 RCV002503793 RCV002515477 RCV003128594 RCV005860035

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

Conflicting classifications of pathogenicity

Joubert syndrome
Rod-cone dystrophy
Condition: not provided
INPP5E-related disorder
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA277739

rs_752300607

6 SubmittersRCV000201629 RCV001376233 RCV001537183 RCV004530206 RCV005860034

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277720

rs_754637179

4 SubmittersRCV000201594 RCV004530207 RCV006700200

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
Orofacial-digital syndrome IV
Joubert syndrome 18
Condition: not provided
Joubert syndrome and related disorders
Autosomal recessive TCTN3-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210256

rs_745688122

7 SubmittersRCV000201547 RCV000796275 RCV003227713 RCV004782310 RCV006695576

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

7 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

7 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA210323

rs_201827132

5 SubmittersRCV000201719 RCV001853239 RCV002222441 RCV005008143 RCV005861078

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
Meckel-Gruber syndrome
Joubert 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
Germline

Chr12:88068585

Pathogenic

Joubert syndrome 5
CEP290-related ciliopathy

Reviewed By Expert Panel

CA277694

rs_779262951

2 SubmittersRCV000201548 RCV006731846

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

SNV
Germline

Chr12:88071373

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277735

rs_371525247

9 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV003468924 RCV004798806 RCV004816348 RCV005003554 RCV006640458

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

SNV
Germline

Chr12:88079112

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

10 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005361163 RCV005623073 RCV006640457

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

SNV
Germline

Chr12:88083161

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

15 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354 RCV004732783 RCV004816347 RCV006695574 RCV006741247

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

SNV
Germline

Chr12:88084768

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

14 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926 RCV004816349

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

SNV
Germline

Chr12:88086083

Pathogenic

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

Reviewed By Expert Panel

CA277705

rs_539400286

18 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001002937 RCV000816913 RCV001030764 RCV001529566 RCV001589085 RCV003468919 RCV004732782 RCV006731843

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

SNV
Germline

Chr12:88118642

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279529

rs_863225186

9 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141 RCV005860033 RCV006635321 RCV006640456 RCV006695573

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

SNV
Germline

Chr12:88130283

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Condition: not provided
Inborn genetic diseases
RPGRIP1L-related disorder
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277753

rs_778533826

7 SubmittersRCV000201661 RCV001853237 RCV002492927 RCV002509297 RCV002517313 RCV004732786 RCV006640460

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

SNV
Germline

Chr16:53646004

Pathogenic

Joubert syndrome 7
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279339

rs_863225215

3 SubmittersRCV000201526 RCV006640459

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

SNV
Germline

Chr16:53664869

Pathogenic/Likely pathogenic

Joubert syndrome 7
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210326

rs_773684291

7 SubmittersRCV000201754 RCV000479872 RCV000984285 RCV000984284 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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 and related disorders
Joubert syndrome 34

Criteria Provided
Multiple Submitters
No Conflicts

CA210341

rs_750436680

3 SubmittersRCV000201776 RCV001844085 RCV002265681

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

SNV
Germline

Chr19:41355008

Pathogenic/Likely pathogenic

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
Joubert syndrome
Orofaciodigital syndrome I
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
Joubert syndrome
Orofaciodigital syndrome I
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA279372

rs_863225212

5 SubmittersRCV000201562 RCV000484195 RCV001383220 RCV003888641

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

SNV
Germline

Chr12:123695219

Pathogenic

Joubert syndrome 24

No Assertion Criteria Provided

CA279858

rs_863225425

1 SubmittersRCV000202333

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

SNV
Germline

Chr12:123706829

Pathogenic

Joubert syndrome 24
Meckel-Gruber syndrome
Joubert 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
Polycystic kidney disease 2
Joubert syndrome 7
Polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348383

rs_2234917

14 SubmittersRCV000204140 RCV000253113 RCV001000584 RCV001258257 RCV001292230 RCV001705172

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

SNV
Germline

Chr8:93765416

Pathogenic/Likely pathogenic

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

Criteria Provided
Conflicting Classifications

CA8057711

rs_148230131

8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002500747 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
Meckel syndrome, type 1
Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
MKS1-related disorder
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8669502

rs_756853299

7 SubmittersRCV000224251 RCV000668874 RCV001049084 RCV003475049 RCV004732799 RCV006640487

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

SNV
Germline

Chr16:53664948

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057886

rs_79708859

8 SubmittersRCV000224232 RCV000253760 RCV001120843 RCV001079549 RCV001120842 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
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder
Thymoma

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

8 SubmittersRCV000224686 RCV000244417 RCV001109952 RCV001109954 RCV001109953 RCV001109955 RCV001109951 RCV001518146 RCV004529386 RCV005895161

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

SNV
Germline

Chr17:58216137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669556

rs_202112856

11 SubmittersRCV000224664 RCV000318559 RCV000695608 RCV000765373 RCV001126448 RCV001126449 RCV004541364

NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)

SNV
Germline

Chr8:60855993

Pathogenic

CHARGE syndrome
Condition: not provided
CHD7-related disorder
Joubert syndrome
CHD7-related CHARGE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10581478

rs_121434341

10 SubmittersRCV000224986 RCV001731455 RCV003417801 RCV005625462 RCV006554505

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

SNV
Germline

Chr12:88117076

Pathogenic

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

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

Reviewed By Expert Panel

CA10581686

rs_878853360

8 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003155133 RCV003469116 RCV005003571 RCV006731861

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

SNV
Germline

Chr12:88140988

Pathogenic

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

Reviewed By Expert Panel

CA10581687

rs_878853363

4 SubmittersRCV000225409 RCV001854802 RCV006640493 RCV006731862

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

SNV
Germline

Chr4:15550968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863889

rs_200764366

8 SubmittersRCV000726192 RCV000765757 RCV001084783 RCV001150183 RCV001150184 RCV001150185 RCV004816441 RCV004816440

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

SNV
Germline

Chr4:15567721

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864143

rs_753770061

2 SubmittersRCV000283981 RCV000338996 RCV001421061

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

SNV
Germline

Chr4:15574207

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA2864387

rs_117667651

7 SubmittersRCV000233027 RCV000267027 RCV000317484 RCV000363082 RCV001576959 RCV004532860 RCV005895213

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

SNV
Germline

Chr4:15597428

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864389

rs_186486235

6 SubmittersRCV000229439 RCV000318552 RCV000319463 RCV000385807 RCV006445589

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
Medulloblastoma
Joubert syndrome 32
Familial meningioma
not specified
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5667602

rs_377614167

8 SubmittersRCV000232777 RCV000573039 RCV001106675 RCV002264924 RCV005031820 RCV006273681 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

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

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109944 RCV001109946 RCV001109948 RCV004725118

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

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA6712316

rs_764963626

9 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV002518359 RCV003227727 RCV004529413

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

SNV
Germline

Chr16:53619079

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057257

rs_142317242

6 SubmittersRCV000232122 RCV000271829 RCV000302183 RCV000359252 RCV001271323 RCV004532945 RCV004955360 RCV006277761

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

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

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
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
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome 6
Kidney disorder
TMEM67-related disorder
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma
Cervical cancer
Ovarian serous cystadenocarcinoma
not specified

Criteria Provided
Conflicting Classifications

CA4808233

rs_115563233

9 SubmittersRCV000234818 RCV000723708 RCV001087450 RCV001163248 RCV001163250 RCV001163249 RCV002294093 RCV004732810 RCV005895407 RCV005895409 RCV005895405 RCV005895406 RCV005895408 RCV006439859

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

SNV
Germline

Chr12:88126442

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712651

rs_199770158

8 SubmittersRCV000238918 RCV000509374 RCV000727048 RCV001083590 RCV002519864 RCV004816452

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

SNV
Germline

Chr17:6607209

Pathogenic/Likely pathogenic

Orofaciodigital syndrome XV
not specified
Condition: not provided
Joubert syndrome 38
Autosomal recessive KIAA0753-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA10586689

rs_886038200

6 SubmittersRCV000241533 RCV000506654 RCV002305473 RCV003225054 RCV006696368

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
Meckel syndrome, type 1
Joubert syndrome 28
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10586693

rs_886038203

3 SubmittersRCV000241543 RCV005025397 RCV006640515

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
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863464

rs_184351317

3 SubmittersRCV000250811 RCV000308534 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
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2863492

rs_116198081

8 SubmittersRCV000252098 RCV000309540 RCV000396897 RCV000860602 RCV001699269

NM_001378615.1(CC2D2A):c.1017+7G>A

SNV
Germline

Chr4:15516011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863537

rs_137919504

4 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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Lung cancer

Criteria Provided
Conflicting Classifications

CA2864452

rs_766203266

4 SubmittersRCV000253082 RCV000339066 RCV000398605 RCV002057437 RCV005891409

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

SNV
Germline

Chr4:15601426

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864494

rs_199945435

4 SubmittersRCV000326813 RCV000371188 RCV001548136 RCV000251518

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

SNV
Germline

Chr5:37107584

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3237380

rs_200332492

3 SubmittersRCV000242809 RCV000311369 RCV005894203

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

SNV
Germline

Chr5:37153938

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3237849

rs_201122718

6 SubmittersRCV000250100 RCV000946041 RCV001153647

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

SNV
Germline

Chr5:37184866

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238710

rs_150556877

4 SubmittersRCV000245872 RCV000369776 RCV001568573

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

SNV
Germline

Chr5:37201651

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238947

rs_141425550

4 SubmittersRCV000248280 RCV001158120 RCV001426492

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

SNV
Germline

Chr5:37226840

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3239076

rs_186970259

7 SubmittersRCV000247286 RCV000405811 RCV000841691

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

SNV
Germline

Chr5:37226859

Conflicting classifications of pathogenicity

not specified
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 3
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012382

rs_191682790

5 SubmittersRCV000249053 RCV001157121 RCV001462053 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_153704.6(TMEM67):c.120T>C (p.Ser40=)

SNV
Germline

Chr8:93755034

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4808442

rs_115967793

6 SubmittersRCV000243894 RCV000549204 RCV001168639 RCV001168638 RCV001168637 RCV001651278

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

SNV
Germline

Chr11:61366132

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 16

Criteria Provided
Conflicting Classifications

CA6034559

rs_145939072

3 SubmittersRCV000246358 RCV001108034

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

SNV
Germline

Chr11:61398297

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6034791

rs_111371929

4 SubmittersRCV000251656 RCV000339313 RCV000377550 RCV001562156

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

SNV
Germline

Chr12:110619913

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 13
Meckel-Gruber syndrome
Joubert 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 24
Meckel syndrome, type 8
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6860944

rs_147485641

3 SubmittersRCV000253180 RCV001112865 RCV001112866 RCV001418301

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

SNV
Germline

Chr12:123699822

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 8
Joubert syndrome 24
Meckel-Gruber syndrome
Joubert 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
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

12 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000391752 RCV000402056 RCV000514061 RCV001084053 RCV001828148 RCV005894212

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

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000283968 RCV000328558 RCV000270848 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282

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

SNV
Germline

Chr12:88118525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712494

rs_561018129

5 SubmittersRCV000249364 RCV001195819 RCV001241555 RCV005008220 RCV005318354

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

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001113799 RCV001275038 RCV001311004

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

SNV
Germline

Chr16:53611044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057230

rs_138724933

9 SubmittersRCV000246270 RCV000296818 RCV000399116 RCV000349270 RCV000861085 RCV001271321 RCV001675738

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

SNV
Germline

Chr16:53619190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057277

rs_886038619

3 SubmittersRCV000249264 RCV001115542 RCV001115540 RCV001115541 RCV001317646

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

SNV
Germline

Chr16:53622339

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057298

rs_568801926

7 SubmittersRCV000247114 RCV000281675 RCV000374184 RCV000349836 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 RCV001279151 RCV001436236 RCV004529441

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

SNV
Germline

Chr16:53671541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669498

rs_372527189

5 SubmittersRCV000248513 RCV001122697 RCV001122696 RCV001520944 RCV005894019 RCV005894018

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

SNV
Germline

Chr17:58214788

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669514

rs_199684837

3 SubmittersRCV000246006 RCV000731550 RCV001087262

NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys)

SNV
Germline

Chr4:15599565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864409

rs_777158229

3 SubmittersRCV000255224 RCV003235165 RCV006555741

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
Lung cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10588538

rs_886039436

3 SubmittersRCV000255837 RCV003989511 RCV005895437

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

SNV
Germline

Chr3:94036664

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2504099

rs_764109067

7 SubmittersRCV000256476 RCV001092355 RCV001859504

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

SNV
Germline

Chr8:85109594

Pathogenic

Joubert syndrome and related disorders
Condition: not provided

Criteria Provided
Single Submitter

CA10588965

rs_886039794

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_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)

SNV
Germline

Chr14:58467887

Likely pathogenic

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

Criteria Provided
Single Submitter

CA10588973

rs_886039806

2 SubmittersRCV000256428 RCV006685097

NM_001077418.3(TMEM231):c.665-11T>C

SNV
Germline

Chr16:75541466

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA3239071

rs_533310477

7 SubmittersRCV000764606 RCV000985139 RCV001034653 RCV001844107 RCV006261964

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734

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

SNV
Germline

Chr16:53657545

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8057784

rs_756821449

5 SubmittersRCV000365145 RCV000797386 RCV004535245 RCV005008228 RCV006640526

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

SNV
Germline

Chr4:15557491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864006

rs_61740537

10 SubmittersRCV000373113 RCV000440940 RCV001088602 RCV004542970 RCV005791840

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

SNV
Germline

Chr17:58207143

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669161

rs_200865108

13 SubmittersRCV000280753 RCV001003078 RCV001087577 RCV001122598 RCV001128316 RCV001578757 RCV001820804 RCV004542971 RCV004816474 RCV004816473

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

SNV
Germline

Chr12:88106770

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

13 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV001380938 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV004816477 RCV006640534

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

SNV
Germline

Chr17:58218692

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669639

rs_199832333

9 SubmittersRCV000724912 RCV000765374 RCV001062255 RCV001274930 RCV001820805 RCV004535260

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

SNV
Germline

Chr4:15570403

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057502

rs_61742381

9 SubmittersRCV000270094 RCV000861403 RCV001118694 RCV001118693 RCV001118695 RCV001699420 RCV004535264

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

SNV
Germline

Chr17:58210732

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10604124

rs_886042359

5 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234 RCV006640537

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

SNV
Germline

Chr12:88071833

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10604125

rs_886042360

8 SubmittersRCV000593831 RCV001199656 RCV001384490 RCV003469223 RCV004732816 RCV005895577

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

SNV
Germline

Chr8:93780741

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4807782

rs_769957689

4 SubmittersRCV000400090 RCV002487195 RCV002518850

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

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113144 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702

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

SNV
Germline

Chr4:15502873

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
Optic atrophy

Criteria Provided
Conflicting Classifications

CA2864483

rs_367841700

6 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
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

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

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

Criteria Provided
Conflicting Classifications

CA2863778

rs_373296447

4 SubmittersRCV000298590 RCV000346854 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
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864242

rs_372292129

4 SubmittersRCV000278967 RCV000298658 RCV000374700 RCV001087550

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

SNV
Germline

Chr10:95685594

Conflicting classifications of pathogenicity

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

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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
not specified
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057968

rs_183419371

9 SubmittersRCV000375576 RCV001117358 RCV001117359 RCV001117360 RCV001241000 RCV001833330 RCV002487213 RCV004017583 RCV004535307

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

SNV
Germline

Chr8:93758540

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10604744

rs_375824494

5 SubmittersRCV000373992 RCV000622377 RCV001859598 RCV004586658 RCV005044531

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

SNV
Germline

Chr16:75556119

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 11
Joubert syndrome 20
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
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
RPGRIP1L-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057978

rs_530772984

8 SubmittersRCV000270824 RCV000800938 RCV001117361 RCV001117362 RCV001117363 RCV001833337 RCV002480021 RCV004535336 RCV005470404

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

SNV
Germline

Chr4:15515958

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863530

rs_113371687

5 SubmittersRCV000377738 RCV001146979 RCV001146978 RCV001315399 RCV005025424

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

SNV
Germline

Chr4:15527666

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

10 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571 RCV005895728

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

SNV
Germline

Chr17:58219179

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669663

rs_557896607

3 SubmittersRCV000389908 RCV001462242 RCV001833363

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

SNV
Germline

Chr8:93758539

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4807607

rs_115640152

7 SubmittersRCV000384341 RCV001087787 RCV001163031 RCV001163029 RCV001163030 RCV001699422 RCV004965374

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

SNV
Germline

Chr17:58207104

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
not specified
Bardet-Biedl syndrome
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Cervical cancer
Uterine corpus endometrial carcinoma
Sarcoma
Thymoma
Thyroid cancer, nonmedullary, 1
Early onset severe obesity

Criteria Provided
Conflicting Classifications

CA8669152

rs_201619500

16 SubmittersRCV000285730 RCV000335464 RCV000400230 RCV000514906 RCV001083793 RCV001094550 RCV005895757 RCV005895761 RCV005895758 RCV005895759 RCV005895760 RCV006439914

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

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

Criteria Provided
Conflicting Classifications

CA8057737

rs_147366111

8 SubmittersRCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001243651 RCV001271332 RCV002487244 RCV004529473 RCV004021214

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 RCV001079200 RCV001835759 RCV004535378

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

SNV
Germline

Chr8:93755021

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4807516

rs_34779331

5 SubmittersRCV000344452 RCV001501683 RCV004732826

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

SNV
Germline

Chr17:58207991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827170

rs_140469160

7 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382 RCV006362208

NM_001378615.1(CC2D2A):c.415T>C (p.Leu139=)

SNV
Germline

Chr4:15502900

Conflicting classifications of pathogenicity

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

6 SubmittersRCV000726050 RCV001082926 RCV003940043

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

SNV
Germline

Chr16:75556081

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 11
Joubert syndrome 20
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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
CPLANE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10605946

rs_886043786

4 SubmittersRCV000273995 RCV002480033 RCV005863089

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

SNV
Germline

Chr12:88058946

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

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
NPHP1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1827217

rs_114250691

6 SubmittersRCV000363080 RCV000765499 RCV001084490 RCV004535410 RCV004816513

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

SNV
Germline

Chr2:110124038

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1826867

rs_201460699

6 SubmittersRCV000303839 RCV001067121 RCV004021253 RCV004734940 RCV005415563

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
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351553

rs_201675886

5 SubmittersRCV000334639 RCV002059241 RCV004021254 RCV004535414

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
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
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

7 SubmittersRCV000266234 RCV001087057 RCV004543115

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

SNV
Germline

Chr4:15560553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864042

rs_150093365

7 SubmittersRCV000321273 RCV000765759 RCV001087972 RCV002518042 RCV004543116 RCV005625518

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

SNV
Germline

Chr4:15569374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864176

rs_771914973

9 SubmittersRCV000726221 RCV001079142 RCV001146759 RCV001146760 RCV004535415

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

SNV
Germline

Chr8:67112031

Pathogenic

Condition: not provided
Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

CA10606295

rs_886044058

3 SubmittersRCV000426028 RCV001859690

NM_017777.4(MKS1):c.323G>A (p.Arg108His)

SNV
Germline

Chr17:58216182

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder
Joubert syndrome 28
Meckel syndrome, type 1
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
Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057696

rs_143863631

9 SubmittersRCV000264423 RCV000303891 RCV000361003 RCV000765294 RCV000726350 RCV001054615 RCV001833391 RCV002522007 RCV004543128

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

SNV
Germline

Chr4:15478791

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA10606582

rs_886044295

3 SubmittersRCV000382562 RCV003765673 RCV005869228

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

11 SubmittersRCV000291175 RCV000345935 RCV000401686 RCV001240998 RCV001788191 RCV004816515

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

SNV
Germline

Chr12:88106824

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

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

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

13 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606 RCV005355616 RCV005895887 RCV006635324

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

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

Criteria Provided
Conflicting Classifications

CA2863850

rs_778205727

5 SubmittersRCV000726483 RCV001087966 RCV001145226 RCV001145225 RCV004537612

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

SNV
Germline

Chr12:88059985

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
not specified
Meckel syndrome, type 1
MKS1-related disorder
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA8669504

rs_201845154

9 SubmittersRCV000283742 RCV001064855 RCV001820845 RCV001828282 RCV004537621 RCV005016684

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

SNV
Germline

Chr4:15537003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863732

rs_201954181

6 SubmittersRCV000335348 RCV001149502 RCV001149503 RCV001248140 RCV002487294 RCV002518166 RCV004537623

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

SNV
Germline

Chr2:110143602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827002

rs_149887461

8 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 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
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Inborn genetic diseases
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827267

rs_139787582

9 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
Senior-Loken syndrome 1
Nephronophthisis 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827390

rs_143163969

2 SubmittersRCV000267804 RCV000315824 RCV000378671 RCV001487646

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

SNV
Germline

Chr2:110163106

Conflicting classifications of pathogenicity

Senior-Loken syndrome 1
Nephronophthisis
Joubert syndrome with renal defect
Condition: not provided
Nephronophthisis 1
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_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)

SNV
Germline

Chr2:208124196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2077717

rs_202233735

8 SubmittersRCV000859322 RCV000414998 RCV001636930 RCV001258237 RCV003983020

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

SNV
Germline

Chr3:93980453

Conflicting classifications of pathogenicity

Joubert syndrome 8
Condition: not provided
ARL13B-related disorder

Criteria Provided
Conflicting Classifications

CA2503724

rs_375770842

4 SubmittersRCV001052493 RCV003221946 RCV003902336

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

SNV
Germline

Chr4:15553314

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863933

rs_768382177

2 SubmittersRCV000367359 RCV000397007 RCV003766006

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

SNV
Germline

Chr4:15557409

Conflicting classifications of pathogenicity

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 SubmittersRCV000320497 RCV000379227 RCV001315843 RCV001753820 RCV004965438

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

SNV
Germline

Chr4:15567753

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA10617303

rs_886059182

1 SubmittersRCV002520219

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

SNV
Germline

Chr4:15569278

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864165

rs_181612746

2 SubmittersRCV000270539 RCV000306898 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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome 9
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863839

rs_369476930

7 SubmittersRCV000298157 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
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome
Meckel-Gruber syndrome
Microcephaly
CC2D2A-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2864351

rs_143947747

6 SubmittersRCV000310019 RCV000364646 RCV000864851 RCV001252766 RCV004530405 RCV006446991 RCV006731931

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

Criteria Provided
Conflicting Classifications

CA2863802

rs_550913315

3 SubmittersRCV000296541 RCV000386075 RCV000732394 RCV002061242

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

SNV
Germline

Chr4:15555111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863437

rs_369022150

4 SubmittersRCV000281651 RCV000336636 RCV000372448 RCV000730673 RCV001081912

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

SNV
Germline

Chr4:15528661

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10620339

rs_886059136

2 SubmittersRCV000285415 RCV000345106 RCV002520208

NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)

SNV
Germline

Chr4:15537043

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863745

rs_376746356

4 SubmittersRCV000352257 RCV000394900 RCV000727108 RCV001407251

NM_001378615.1(CC2D2A):c.3398+7A>G

SNV
Germline

Chr4:15567793

Conflicting classifications of pathogenicity

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

Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3237691

rs_144427399

4 SubmittersRCV000325059 RCV001462609 RCV003972484

NM_001384732.1(CPLANE1):c.7588+8T>C

SNV
Germline

Chr5:37164265

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238017

rs_377295986

2 SubmittersRCV000273424 RCV002058530

NM_001384732.1(CPLANE1):c.6456C>T (p.Asn2152=)

SNV
Germline

Chr5:37170047

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238259

rs_186460995

3 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
not specified
CPLANE1-related disorder
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Conflicting Classifications

CA3238499

rs_199524299

8 SubmittersRCV000386853 RCV000424907 RCV004021997 RCV005238938 RCV004752874 RCV005033895

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

3 SubmittersRCV000283740 RCV002058532

NM_001384732.1(CPLANE1):c.3090G>A (p.Thr1030=)

SNV
Germline

Chr5:37206256

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238997

rs_768564404

2 SubmittersRCV000392900 RCV002061284

NM_001384732.1(CPLANE1):c.1680G>A (p.Glu560=)

SNV
Germline

Chr5:37226915

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3239080

rs_749473632

2 SubmittersRCV000364768 RCV000918041

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

SNV
Germline

Chr6:135411553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4485523

rs_143303575

10 SubmittersRCV000483238 RCV000878420 RCV001261666 RCV001702359 RCV003922590 RCV005621939

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

7 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
Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6
Inborn genetic diseases
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3237520

rs_547370426

5 SubmittersRCV000353311 RCV002061282 RCV005033893 RCV005801783 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_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.2924G>A (p.Arg975His)

SNV
Germline

Chr8:93816388

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4808434

rs_191759530

3 SubmittersRCV000287697 RCV000351936 RCV000382096 RCV001861333

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
Condition: not provided
Joubert syndrome 1
Optic atrophy

Criteria Provided
Conflicting Classifications

CA5336675

rs_147967974

5 SubmittersRCV000302693 RCV000489191 RCV001095320 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6034671

rs_569659022

3 SubmittersRCV000407594 RCV006386799

NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)

SNV
Germline

Chr8:93787877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4807976

rs_774288177

4 SubmittersRCV000306665 RCV000270206 RCV000370373 RCV000872573 RCV004732858 RCV006435043

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5336672

rs_368026621

4 SubmittersRCV000391284 RCV000436637 RCV001095319 RCV006443261

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

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

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

8 SubmittersRCV000291084 RCV000288370 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001085312 RCV001273074 RCV002294263 RCV003888722 RCV004537751

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

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000299546 RCV000305920 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
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000330322 RCV000338378 RCV000372028 RCV000387258 RCV000422198 RCV004537755

NM_016464.5(TMEM138):c.327C>T (p.Ser109=)

SNV
Germline

Chr11:61367949

Conflicting classifications of pathogenicity

Joubert syndrome 16
Condition: not provided
TMEM138-related disorder

Criteria Provided
Conflicting Classifications

CA6034593

rs_201318247

4 SubmittersRCV000951552 RCV001566151 RCV003967876

NM_001173990.2(TMEM216):c.-135T>C

SNV
Germline

Chr11:61392497

Conflicting classifications of pathogenicity

Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Conflicting Classifications

CA10635095

rs_183785901

1 SubmittersRCV000309701 RCV000359657

NM_001173990.2(TMEM216):c.-91G>A

SNV
Germline

Chr11:61392541

Conflicting classifications of pathogenicity

Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Conflicting Classifications

CA10635101

rs_557559653

1 SubmittersRCV000261060 RCV000360401

NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)

SNV
Germline

Chr11:61397902

Conflicting classifications of pathogenicity

Meckel syndrome, type 2
Joubert syndrome
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
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Retinal dystrophy
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057127

rs_759935029

5 SubmittersRCV000260137 RCV000324659 RCV000379320 RCV001413863 RCV000996270 RCV004816558 RCV004544574

NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)

SNV
Germline

Chr16:53645743

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
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
Nephronophthisis
Joubert syndrome
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
Nephronophthisis
Joubert syndrome

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
Nephronophthisis
Joubert syndrome
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
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
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 RCV001242966 RCV001590929 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
Nephronophthisis
Joubert syndrome

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
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Microcephaly
Condition: not provided
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
Joubert syndrome 5
Bardet-Biedl syndrome 14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

10 SubmittersRCV000307295 RCV000310425 RCV000365084 RCV000371328 RCV000400672 RCV000861492 RCV001252733 RCV001562789 RCV002467728 RCV003888723 RCV004732842 RCV005003631 RCV005801772

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
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212

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

SNV
Germline

Chr11:61392608

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6034687

rs_59493015

3 SubmittersRCV000281341 RCV000331705 RCV000444282 RCV004537720

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

SNV
Germline

Chr11:61397964

Conflicting classifications of pathogenicity

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
Joubert syndrome
Meckel-Gruber syndrome
MKS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8669506

rs_200149256

7 SubmittersRCV000321171 RCV000384944 RCV000730592 RCV001086823 RCV004537814 RCV006713406

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
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721

NM_025114.4(CEP290):c.5709+12A>G

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000355216 RCV000354211 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
Joubert syndrome 5
Bardet-Biedl syndrome 14
not specified
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000360821 RCV000354663 RCV000603267 RCV001273072 RCV001347081 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
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

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

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002467729 RCV002461069

NM_025114.4(CEP290):c.-33G>T

SNV
Germline

Chr12:88141905

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000305052 RCV000309585 RCV000357550 RCV000402356 RCV001642965

NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)

SNV
Germline

Chr12:88086400

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752 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
Meckel syndrome, type 5
Joubert syndrome 7
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
Joubert syndrome
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058122

rs_202149647

5 SubmittersRCV000260324 RCV000320204 RCV000374585 RCV000867235 RCV001273899 RCV003992277 RCV004537803

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
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
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
Nephronophthisis 8
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647702

rs_151226475

2 SubmittersRCV000260902 RCV000316080 RCV000379947 RCV003422270

NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)

SNV
Germline

Chr16:53652727

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
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
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8057500

rs_141608712

9 SubmittersRCV000283664 RCV000341038 RCV000380415 RCV000996271 RCV001243917 RCV001271326 RCV005010283 RCV005894494 RCV005894493

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

Criteria Provided
Conflicting Classifications

CA8057930

rs_144023021

7 SubmittersRCV000272277 RCV000308698 RCV000362256 RCV001239253 RCV001828320 RCV002487410 RCV004537802 RCV004021665 RCV005241353

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

SNV
Germline

Chr16:53692344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8058159

rs_151212590

7 SubmittersRCV000310412 RCV000346684 RCV000398312 RCV000464407 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
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Retinal dystrophy
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8058197

rs_146925098

10 SubmittersRCV000262935 RCV000298218 RCV000353091 RCV001081628 RCV000489212 RCV004816559 RCV005016706 RCV006362268

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

SNV
Germline

Chr19:41355004

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Malignant tumor of urinary bladder
B9D2-related disorder
Ciliopathy

Criteria Provided
Conflicting Classifications

CA9460301

rs_148087680

4 SubmittersRCV002735439 RCV005928415 RCV003963339 RCV005356188

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

Criteria Provided
Conflicting Classifications

CA8669457

rs_370117125

8 SubmittersRCV000266041 RCV000379306 RCV000861689 RCV001699454

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

SNV
Germline

Chr17:58213027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669402

rs_201961765

4 SubmittersRCV000262761 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
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669667

rs_369488349

9 SubmittersRCV000266789 RCV000361285 RCV000728548 RCV001086578

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
Joubert syndrome 2
Meckel syndrome, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16041469

rs_1057517498

4 SubmittersRCV000409881 RCV000411402 RCV001053497 RCV002502435

NM_001173990.3(TMEM216):c.35-2A>G

SNV
Germline

Chr11:61393229

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041470

rs_1057517528

6 SubmittersRCV000409368 RCV000410496 RCV002524628 RCV004776284 RCV005049540

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712782

rs_757641323

11 SubmittersRCV000414162 RCV000552078 RCV000999862 RCV002470852 RCV003463818 RCV005010313 RCV005540072 RCV006640617 RCV006273017

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

SNV
Germline

Chr12:88093977

Pathogenic/Likely pathogenic

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043473

rs_1057518822

5 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147 RCV006640620

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

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

Criteria Provided
Conflicting Classifications

CA10351924

rs_146251034

5 SubmittersRCV000435733 RCV000721041 RCV000638949

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

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

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

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
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA8440035

rs_73980009

6 SubmittersRCV000428981 RCV001291732 RCV004017610 RCV004555575 RCV005900775

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
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA16603252

rs_896947430

8 SubmittersRCV000423378 RCV003766188 RCV004586704 RCV005252887 RCV005632393

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

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

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV000417476 RCV000765111 RCV001276484 RCV001245037 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
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA2864082

rs_371608031

4 SubmittersRCV000442925 RCV000765760 RCV001402263 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
Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA2863395

rs_748886997

5 SubmittersRCV000424373 RCV001147863 RCV001147864 RCV002063654 RCV004732884 RCV005033960

NM_001378615.1(CC2D2A):c.3014+4A>C

SNV
Germline

Chr4:15560626

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
CC2D2A-related disorder
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA2864050

rs_748451478

6 SubmittersRCV000435852 RCV000524961 RCV002522611 RCV004533116 RCV005033954 RCV005898115

NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=)

SNV
Germline

Chr4:15563485

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert 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.493G>A (p.Val165Ile)

SNV
Germline

Chr6:135466070

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012820

rs_755936005

3 SubmittersRCV000418241 RCV001865374 RCV006659468

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
Orofaciodigital syndrome type 6
Joubert syndrome 17
Joubert syndrome 1
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA3239117

rs_755097302

6 SubmittersRCV000438829 RCV000694430 RCV001729596 RCV003147459

NM_001174150.2(ARL13B):c.626G>A (p.Arg209His)

SNV
Germline

Chr3:94036691

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2504105

rs_199790565

4 SubmittersRCV000425094 RCV001234582 RCV005712161

NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)

SNV
Germline

Chr6:135290508

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 3
Joubert syndrome
Intellectual disability
Condition: not provided
AHI1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4011964

rs_199578341

10 SubmittersRCV000445026 RCV000764640 RCV000701724 RCV001252129 RCV003431002 RCV003932665 RCV004816662

NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)

SNV
Germline

Chr6:135323294

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Joubert syndrome 1
Joubert syndrome
Rod-cone dystrophy
not specified
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012074

rs_780163791

9 SubmittersRCV000424420 RCV001075600 RCV000987784 RCV001047025 RCV001376231 RCV003114537 RCV005044633

NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)

SNV
Germline

Chr6:135427217

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Retinal dystrophy
not specified
AHI1-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4012295

rs_199879855

6 SubmittersRCV000427065 RCV001083343 RCV001074633 RCV003317208 RCV004752894 RCV005625602

NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=)

SNV
Germline

Chr5:37108458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3237449

rs_377707922

5 SubmittersRCV000425265 RCV000899396 RCV001153530 RCV003942431

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

Criteria Provided
Conflicting Classifications

CA3239096

rs_372187548

6 SubmittersRCV000420402 RCV002481329 RCV004752897 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
not specified
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA4808413

rs_771551765

5 SubmittersRCV000429127 RCV000984518 RCV002248661 RCV001851095 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
MORM syndrome
Joubert syndrome 1
INPP5E-related disorder
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA5336788

rs_75939033

6 SubmittersRCV000420326 RCV001239212 RCV001376303 RCV005044646 RCV004529576 RCV005418121

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

Criteria Provided
Conflicting Classifications

CA6711569

rs_765002773

5 SubmittersRCV000421065 RCV000726726 RCV001083326 RCV001828431 RCV004533083

NM_025114.4(CEP290):c.1360-4T>G

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

6 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886

NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)

SNV
Germline

Chr14:58453473

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607000

rs_772739103

2 SubmittersRCV000418597 RCV002521677

NM_015272.5(RPGRIP1L):c.1700-1G>A

SNV
Germline

Chr16:53652988

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607037

rs_1057520790

3 SubmittersRCV000434303 RCV001378534 RCV006640631

NM_015272.5(RPGRIP1L):c.3220+13T>C

SNV
Germline

Chr16:53637682

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert 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
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA8176170

rs_201636741

6 SubmittersRCV000650610 RCV001704292 RCV003151054 RCV005897999

NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)

SNV
Germline

Chr12:88111728

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6712388

rs_752513342

4 SubmittersRCV000436721 RCV001242972 RCV004532991 RCV005801788

NM_025114.4(CEP290):c.1729C>T (p.Leu577=)

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001111899 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001084047

NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)

SNV
Germline

Chr16:75556203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176321

rs_371709760

4 SubmittersRCV000952419 RCV001703597 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669254

rs_369141016

6 SubmittersRCV000422499 RCV000727365 RCV001400560 RCV004539865

NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly)

SNV
Germline

Chr3:94053237

Conflicting classifications of pathogenicity

Joubert syndrome 8
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2504328

rs_112062713

4 SubmittersRCV000469693 RCV004760499 RCV005712164

NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr4:15527564

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 1
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA2863622

rs_757208121

5 SubmittersRCV000456449 RCV000987416 RCV005027531 RCV006458380

NM_016169.4(SUFU):c.1429G>A (p.Val477Met)

SNV
Germline

Chr10:102630129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5668006

rs_765358771

9 SubmittersRCV000462118 RCV000567793 RCV001105629 RCV003139675 RCV006273797 RCV005398652

NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)

SNV
Germline

Chr10:102509261

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5667641

rs_746322193

7 SubmittersRCV000476504 RCV000763640 RCV001016523 RCV001293037 RCV003105911 RCV004567970 RCV005027505

NM_016169.4(SUFU):c.1023-2A>T

SNV
Germline

Chr10:102615266

Likely pathogenic

Medulloblastoma
Gorlin syndrome
Basal cell nevus syndrome 2
Joubert syndrome 32

Criteria Provided
Multiple Submitters
No Conflicts

CA16612826

rs_1060501105

2 SubmittersRCV000472343 RCV003448312

NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)

SNV
Germline

Chr10:102599514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5667830

rs_141359583

6 SubmittersRCV000463863 RCV000563167 RCV001103676 RCV003470410 RCV005027504 RCV006259934

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
Gorlin syndrome
Medulloblastoma
Medulloblastoma
Familial meningioma
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Basal cell nevus syndrome 2

Criteria Provided
Conflicting Classifications

CA5667730

rs_149513330

16 SubmittersRCV000507081 RCV000568542 RCV000732323 RCV001081771 RCV001108833 RCV003316587 RCV005398653

NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)

SNV
Germline

Chr10:102615303

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5667865

rs_137880855

9 SubmittersRCV000464552 RCV001017160 RCV002480368 RCV003463873 RCV003483616 RCV003333747 RCV006273772

NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)

SNV
Germline

ChrX:13767252

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome
OFD1-related disorder
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA16616638

rs_1060500123

5 SubmittersRCV000465580 RCV002279956 RCV003448310 RCV003448908 RCV005252898

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
Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA2863866

rs_372259202

5 SubmittersRCV000730328 RCV001229206 RCV003323564

NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)

SNV
Germline

Chr4:15580065

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864250

rs_200427832

6 SubmittersRCV000765762 RCV000726978 RCV001081324 RCV004535520

NM_001378615.1(CC2D2A):c.3976-18C>G

SNV
Germline

Chr4:15586139

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864468

rs_199695154

7 SubmittersRCV000479727 RCV001053315 RCV002525868 RCV002496867 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
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related disorder
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA6711875

rs_777464278

7 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003470556 RCV003324527 RCV004527588 RCV005869488

NM_025114.4(CEP290):c.3461+1G>A

SNV
Germline

Chr12:88092680

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619601

rs_766952056

2 SubmittersRCV000485299 RCV001070331

NM_025114.4(CEP290):c.1670G>A (p.Arg557His)

SNV
Germline

Chr12:88118524

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712493

rs_184018899

11 SubmittersRCV000485164 RCV000554377 RCV000723705 RCV000763867 RCV001111903 RCV001111904 RCV001111901 RCV001275035 RCV001111900 RCV001111902 RCV003227766 RCV004529604 RCV004816684

NM_001329943.3(KIAA0586):c.-29A>C

SNV
Germline

Chr14:58428236

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7205233

rs_752709426

2 SubmittersRCV000481842 RCV001851264

NM_001329943.3(KIAA0586):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr14:58444155

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 23

Criteria Provided
Multiple Submitters
No Conflicts

CA16619878

rs_985118235

2 SubmittersRCV000479792 RCV003983092

NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter)

SNV
Germline

Chr14:58467833

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619879

rs_1064793157

2 SubmittersRCV000484352 RCV001215185

NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn)

SNV
Germline

Chr16:53619195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057283

rs_766943204

4 SubmittersRCV000484881 RCV001365284 RCV004732897 RCV005018809

NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)

SNV
Germline

Chr16:53649068

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8057601

rs_751128300

5 SubmittersRCV000484741 RCV000697158 RCV002526604 RCV002509406 RCV006640663

NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)

SNV
Germline

Chr16:53656511

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057740

rs_79524027

5 SubmittersRCV000765296 RCV000862031 RCV001696865 RCV004535531

NM_004311.4(ARL3):c.446G>A (p.Arg149His)

SNV
Germline

Chr10:102685871

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 35

Criteria Provided
Conflicting Classifications

CA5668428

rs_770782663

3 SubmittersRCV000487659 RCV000714512

NM_001382391.1(CSPP1):c.1828-4C>A

SNV
Germline

Chr8:67137452

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 21

Criteria Provided
Conflicting Classifications

CA16621867

rs_1064797347

2 SubmittersRCV000488123 RCV003743750

NM_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
MORM syndrome
Joubert syndrome 1
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
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA201638375

rs_1024279229

4 SubmittersRCV000489080 RCV001797738 RCV001865518 RCV005398710

NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)

SNV
Germline

Chr16:53687867

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
not specified
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8058076

rs_146584570

12 SubmittersRCV000489985 RCV001047354 RCV001118973 RCV001118974 RCV001118975 RCV001273839 RCV003155214 RCV002481554 RCV004816716 RCV006362376

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3238567

rs_200444162

7 SubmittersRCV000611750 RCV001226490 RCV002475966 RCV004023274

NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly)

SNV
Germline

Chr5:37183538

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA359497381

rs_759649053

2 SubmittersRCV004689763 RCV000605589

NM_001352754.2(ARMC9):c.51+5G>T

SNV
Germline

Chr2:231206294

Conflicting classifications of pathogenicity

ARMC9-related Joubert syndrome
Joubert syndrome
Joubert syndrome 30

Criteria Provided
Conflicting Classifications

CA431718687

rs_1114167447

6 SubmittersRCV000491267 RCV001034536 RCV002227476

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

8 SubmittersRCV000491717 RCV000515505 RCV001034537 RCV001038181 RCV001257947

NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys)

SNV
Germline

Chr2:231276637

Pathogenic/Likely pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome

No Assertion Criteria Provided

CA2160301

rs_753432312

3 SubmittersRCV000490882 RCV000515503 RCV001034533

NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)

SNV
Germline

Chr2:231276775

Likely pathogenic

ARMC9-related Joubert syndrome
Joubert syndrome 30
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

ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome

No Assertion Criteria Provided

CA350957057

rs_1114167449

3 SubmittersRCV000490913 RCV000515485 RCV001034541

NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)

SNV
Germline

Chr17:6623016

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Joubert syndrome
Jeune thoracic dystrophy
Condition: not provided
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV
Orofaciodigital syndrome XV
Short-rib thoracic dysplasia 21 without polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA8330639

rs_746068882

8 SubmittersRCV000590973 RCV000984622 RCV001269779 RCV001559335 RCV002248721 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
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356410600

rs_1131691659

3 SubmittersRCV000493964 RCV003766778 RCV005860089

NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)

SNV
Germline

Chr5:37195993

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3238873

rs_749421099

5 SubmittersRCV003987565 RCV005034036 RCV006725846 RCV000493929

NM_025114.4(CEP290):c.4813-2A>G

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

15 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071 RCV005899811

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
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012695

rs_777420094

5 SubmittersRCV000502871 RCV000766367 RCV003495140 RCV005034040 RCV005831613

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_016464.5(TMEM138):c.74A>G (p.Asn25Ser)

SNV
Germline

Chr11:61364464

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6034512

rs_775913576

5 SubmittersRCV000499948 RCV000812896 RCV001662500

NM_024809.5(TCTN2):c.333T>C (p.Asp111=)

SNV
Germline

Chr12:123673680

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

8 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914 RCV006707683 RCV006640714

NM_015272.5(RPGRIP1L):c.1700-16G>T

SNV
Germline

Chr16:53653003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8176255

rs_376555896

6 SubmittersRCV000515034 RCV001003228 RCV001865689 RCV003222011 RCV004755946 RCV006690594

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
Sarcoma

Criteria Provided
Conflicting Classifications

CA4770140

rs_200158932

6 SubmittersRCV000513710 RCV001083166 RCV003935358 RCV005901102

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
Orofaciodigital syndrome I
Joubert syndrome

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
Joubert syndrome 17
Orofaciodigital syndrome type 6

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
Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3238703

rs_138157520

4 SubmittersRCV000520136 RCV001331273 RCV001248105 RCV003925565

NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met)

SNV
Germline

Chr5:37226940

Conflicting classifications of pathogenicity

Condition: not provided
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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4770621

rs_199608505

6 SubmittersRCV000521993 RCV000703453 RCV003925555 RCV006659600

NM_015631.6(TCTN3):c.959T>C (p.Val320Ala)

SNV
Germline

Chr10:95685566

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5621009

rs_546805063

2 SubmittersRCV000522657 RCV001451183

NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

7 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660 RCV006640735

NM_025114.4(CEP290):c.1190-2A>G

SNV
Germline

Chr12:88121168

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712608

rs_200818935

4 SubmittersRCV000523813 RCV001378303 RCV003470653 RCV006640732

NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser)

SNV
Germline

Chr1:3816298

Conflicting classifications of pathogenicity

Joubert syndrome 25
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA551219

rs_185664269

5 SubmittersRCV000552509 RCV002525323 RCV004691255

NM_001378615.1(CC2D2A):c.3988C>T (p.Arg1330Ter)

SNV
Germline

Chr4:15586169

Pathogenic

Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA4807723

rs_770605718

4 SubmittersRCV000542172 RCV002245001 RCV002476130 RCV006262342

NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)

SNV
Germline

Chr8:93765410

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert 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
Joubert syndrome 1
Inborn genetic diseases
not specified
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5337119

rs_143107549

6 SubmittersRCV000839869 RCV001088844 RCV001335948 RCV002527750 RCV003151089 RCV004541674

NM_016169.4(SUFU):c.529A>G (p.Met177Val)

SNV
Germline

Chr10:102592656

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Medulloblastoma
Hereditary cancer-predisposing syndrome
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 RCV001108832 RCV001023883 RCV003151082 RCV003325488 RCV005027622

NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)

SNV
Germline

Chr10:102504195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5667582

rs_761921681

4 SubmittersRCV003329291 RCV004568693 RCV000535620 RCV001022422 RCV001292713

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
not specified

Criteria Provided
Conflicting Classifications

CA5668000

rs_778125780

9 SubmittersRCV000545540 RCV000561960 RCV000763644 RCV001294222 RCV003139745 RCV003470694 RCV006273856

NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)

SNV
Germline

Chr12:110642349

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6786858

rs_188817098

6 SubmittersRCV000552632 RCV000763790 RCV001591218 RCV002528337

NM_025114.4(CEP290):c.6358-1G>A

SNV
Germline

Chr12:88060995

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742

NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter)

SNV
Germline

Chr12:88080196

Pathogenic

Meckel-Gruber syndrome
Joubert 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

Meckel-Gruber syndrome
Joubert 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

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

Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA6712602

rs_773578133

4 SubmittersRCV000526103 RCV000839270 RCV004537946 RCV005010500

NM_025114.4(CEP290):c.943-8A>T

SNV
Germline

Chr12:88126446

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712652

rs_200729812

6 SubmittersRCV000595738 RCV001083503 RCV004817765 RCV006717089

NM_025114.4(CEP290):c.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

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

CA6712897

rs_758593134

7 SubmittersRCV000542843 RCV000787558 RCV001091342 RCV001199655 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

Meckel-Gruber syndrome
Joubert 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
Familial meningioma
Medulloblastoma
Joubert syndrome 32
Gorlin syndrome
Medulloblastoma
Gorlin syndrome
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
Meckel-Gruber syndrome
Joubert 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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395915296

rs_1326042797

4 SubmittersRCV000578780 RCV003767253 RCV004722949 RCV006640761

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
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4012199

rs_751303913

4 SubmittersRCV000585422 RCV001199637 RCV005091526 RCV005629854

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

9 SubmittersRCV000596012 RCV000636987 RCV002282253 RCV002294351 RCV002250666 RCV002506412 RCV003459464 RCV006640780 RCV006552451

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
COACH syndrome 1
Joubert syndrome 9
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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

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

Criteria Provided
Conflicting Classifications

CA1827225

rs_201478764

3 SubmittersRCV000592386 RCV001134448 RCV001134446 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 syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863781

rs_185072004

5 SubmittersRCV000597873 RCV000827144 RCV001147082 RCV001083162 RCV001147081

NM_003611.3(OFD1):c.2996+10T>C

SNV
Germline

ChrX:13768795

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I

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

Criteria Provided
Conflicting Classifications

CA2864377

rs_113065116

6 SubmittersRCV000592379 RCV001326524 RCV004024748 RCV004732953 RCV005034164

NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)

SNV
Germline

Chr11:61393319

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 2
Joubert syndrome
TMEM216-related disorder

Criteria Provided
Conflicting Classifications

CA222895126

rs_900061092

5 SubmittersRCV000598481 RCV001276405 RCV001088496 RCV004530681

NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)

SNV
Germline

Chr12:88089106

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
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
Meckel syndrome, type 11
Joubert syndrome 20
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8176052

rs_369010440

5 SubmittersRCV000593061 RCV002065162 RCV003160029

NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)

SNV
Germline

Chr4:15527459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863609

rs_115924432

8 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
Meckel syndrome, type 11
Joubert syndrome 20

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
Meckel syndrome, type 5
COACH syndrome 3
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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863449

rs_147499316

6 SubmittersRCV000594378 RCV001057745 RCV003330817 RCV004530704 RCV005791900

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

Criteria Provided
Conflicting Classifications

CA8058130

rs_201413825

8 SubmittersRCV000596655 RCV001248488 RCV001330328 RCV001829675 RCV002476328 RCV003278935

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863908

rs_367560550

4 SubmittersRCV000594189 RCV001370617 RCV006342391

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

Criteria Provided
Conflicting Classifications

CA1827026

rs_147945403

5 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
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2864358

rs_146843542

7 SubmittersRCV000593757 RCV001146865 RCV001146866 RCV001474086 RCV001755983 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
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA2864219

rs_765661601

5 SubmittersRCV000594362 RCV001312485 RCV004024856 RCV005034179 RCV005898728

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8176153

rs_543122080

3 SubmittersRCV000598629 RCV002532705

NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)

SNV
Germline

Chr8:93765413

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Generalized hypotonia
Cerebellar vermis hypoplasia
Iris coloboma
Nystagmus
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
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Condition: not provided
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863521

rs_201465430

9 SubmittersRCV000614384 RCV000862325 RCV001146974 RCV001146975 RCV001700232 RCV004543407

NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)

SNV
Germline

Chr6:135290476

Conflicting classifications of pathogenicity

Condition: not provided
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

Condition: not provided
Joubert syndrome 17
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3238648

rs_147588579

8 SubmittersRCV000945598 RCV001152543 RCV003927959

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

4 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
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
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
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
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
Meckel syndrome, type 11
Joubert syndrome 20
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8176304

rs_201181950

6 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
not specified
Meckel-Gruber syndrome
Joubert syndrome
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA371692274

rs_1281778614

5 SubmittersRCV000624890 RCV000680126 RCV001821759 RCV001855314 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

Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7813303

rs_764770536

3 SubmittersRCV000626463 RCV001091435 RCV002529791

NM_001378615.1(CC2D2A):c.1149+1G>A

SNV
Germline

Chr4:15516757

Pathogenic/Likely pathogenic

7 conditions
Joubert syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356410089

rs_1553827236

2 SubmittersRCV000626743 RCV001197299 RCV001784183

NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter)

SNV
Germline

Chr2:110123968

Conflicting classifications of pathogenicity

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

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
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
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
Intellectual developmental disorder, autosomal recessive 77
Joubert syndrome 25

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4808035

rs_747025617

7 SubmittersRCV000636959 RCV001779030 RCV001591420 RCV003338698 RCV005049626 RCV006270409

NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala)

SNV
Germline

Chr9:136431102

Pathogenic/Likely pathogenic

Joubert syndrome
INPP5E-related disorder
Joubert syndrome and related disorders
Joubert syndrome 1
MORM syndrome
Joubert syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5336724

rs_771866500

5 SubmittersRCV000636942 RCV004755997 RCV004768490 RCV005870718 RCV005044925

NM_016169.4(SUFU):c.26C>T (p.Ala9Val)

SNV
Germline

Chr10:102504178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA377886134

rs_775491374

5 SubmittersRCV000628510 RCV001016349 RCV003459485 RCV003237957 RCV005027739

NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)

SNV
Germline

Chr10:95685579

Conflicting classifications of pathogenicity

Orofacial-digital syndrome IV
Joubert syndrome 18
Condition: not provided
not specified
TCTN3-related disorder

Criteria Provided
Conflicting Classifications

CA5621010

rs_200042949

9 SubmittersRCV000650532 RCV001572868 RCV003151118 RCV004533402

NM_025114.4(CEP290):c.1523-1G>T

SNV
Germline

Chr12:88118744

Likely pathogenic

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

Criteria Provided
Conflicting Classifications

CA6712109

rs_376645523

2 SubmittersRCV000733948 RCV001088081

NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)

SNV
Germline

Chr12:88125357

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV003459522 RCV004732982

NM_025114.4(CEP290):c.4068T>G (p.Leu1356=)

SNV
Germline

Chr12:88087906

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6712031

rs_377227262

2 SubmittersRCV000733952 RCV001088958

NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu)

SNV
Germline

Chr14:58540113

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7206408

rs_370303493

2 SubmittersRCV000652576 RCV005652420

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

5 SubmittersRCV000652582 RCV001564178 RCV003918073 RCV004689828

NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)

SNV
Germline

Chr14:58482571

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7206037

rs_199537542

6 SubmittersRCV000652575 RCV001584506 RCV001816637 RCV004985050

NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)

SNV
Germline

Chr16:53652983

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057715

rs_141201084

4 SubmittersRCV000636964 RCV001115808 RCV001115809 RCV001117240 RCV001535066

NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)

SNV
Germline

Chr16:53652978

Conflicting classifications of pathogenicity

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

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

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057604

rs_373201651

4 SubmittersRCV000636953 RCV001835889 RCV002529857 RCV004533330

NM_017777.4(MKS1):c.371G>A (p.Arg124Gln)

SNV
Germline

Chr17:58216134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669554

rs_765026950

6 SubmittersRCV000636950 RCV001835021 RCV003222071 RCV004948501 RCV004732981

NM_003611.3(OFD1):c.748G>T (p.Glu250Ter)

SNV
Germline

ChrX:13746873

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

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

Joubert syndrome
Orofaciodigital syndrome I
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351708

rs_778349684

4 SubmittersRCV000638947 RCV000766074 RCV004737917 RCV005692229

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
Joubert syndrome 2
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA380685017

rs_1554972547

3 SubmittersRCV000810263 RCV001787350 RCV006642487

NM_017777.4(MKS1):c.1166-2A>G

SNV
Germline

Chr17:58208003

Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400326384

rs_1555599412

6 SubmittersRCV000670245 RCV000701980 RCV002469247 RCV004719933 RCV003472123

NM_017777.4(MKS1):c.1A>G (p.Met1Val)

SNV
Unknown

Chr17:58219230

Likely pathogenic

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

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

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

Criteria Provided
Conflicting Classifications

CA292007497

rs_772719574

5 SubmittersRCV000669895 RCV001201422 RCV001830443

NM_017777.4(MKS1):c.858+1G>A

SNV
Germline

Chr17:58212981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669388

rs_756102768

4 SubmittersRCV000672305 RCV002225110 RCV003767996 RCV005901498

NM_017777.4(MKS1):c.515+2T>G

SNV
Unknown

Chr17:58214739

Likely pathogenic

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

No Assertion Criteria Provided

CA400327107

rs_1376664664

1 SubmittersRCV000669368

NM_017777.4(MKS1):c.190+2T>C

SNV
Germline

Chr17:58218618

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8669630

rs_375170572

12 SubmittersRCV000665861 RCV000800425 RCV001274929 RCV001580533 RCV001784235 RCV003472074 RCV004732989 RCV005901443

NM_017777.4(MKS1):c.1408-2A>G

SNV
Unknown

Chr17:58206549

Likely pathogenic

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

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
Jeune thoracic dystrophy
Joubert syndrome
Condition: not provided
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

9 SubmittersRCV000754953 RCV000984620 RCV001269992 RCV001559339 RCV005027831 RCV004812351

NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr)

SNV
Germline

Chr8:93755787

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Meckel-Gruber syndrome
Joubert 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 RCV002507229 RCV003472242

NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val)

SNV
Germline

Chr4:15533272

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3238018

rs_773662834

4 SubmittersRCV001361695 RCV002249424 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
Joubert syndrome 17
Orofaciodigital syndrome type 6

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4012440

rs_756276537

5 SubmittersRCV000688299 RCV002298739 RCV003317340 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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712767

rs_772170760

7 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002499260 RCV002536346 RCV003465619 RCV005620388

NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)

SNV
Germline

Chr16:75541410

Conflicting classifications of pathogenicity

Meckel syndrome, type 11
Joubert syndrome 20
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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA6712327

rs_201569048

8 SubmittersRCV000689950 RCV001115045 RCV001115042 RCV001115044 RCV001829910 RCV001115041 RCV001115043 RCV001756171 RCV002477547 RCV004026344 RCV004527741 RCV005407885

NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter)

SNV
Germline

ChrX:13756669

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome

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

Orofaciodigital syndrome I
Joubert syndrome
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10351574

rs_763219658

4 SubmittersRCV000692393 RCV000766073 RCV003133533 RCV003330905

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

Orofaciodigital syndrome I
Joubert syndrome
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA412333581

rs_1569102786

2 SubmittersRCV000706155 RCV005901745

NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr12:88111318

Pathogenic

Joubert syndrome 5
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
Condition: not provided
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6712362

rs_753884599

7 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647 RCV006642531 RCV004817947

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
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351711

rs_139444990

4 SubmittersRCV000712459 RCV002060889 RCV004026820 RCV004535766

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395924473

rs_1277577195

6 SubmittersRCV000722572 RCV000812456 RCV001273840 RCV002507274 RCV004733019

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

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385977222

rs_1203763812

2 SubmittersRCV000722987 RCV001211577

NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr)

SNV
Germline

Chr9:136430292

Conflicting classifications of pathogenicity

Condition: not provided
Rod-cone dystrophy
Joubert syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5336668

rs_765327224

5 SubmittersRCV000723153 RCV001376432 RCV001862127 RCV004817953

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_003611.3(OFD1):c.730A>G (p.Met244Val)

SNV
Germline

ChrX:13746855

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome 10
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Conflicting Classifications

CA10351676

rs_770614769

3 SubmittersRCV000727997 RCV002507280 RCV005863261

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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864403

rs_762143074

3 SubmittersRCV000728315 RCV001402437 RCV004733022

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

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

Criteria Provided
Conflicting Classifications

CA8669456

rs_754404940

4 SubmittersRCV000728775 RCV001080038 RCV001816795 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
Meckel syndrome, type 6
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2864415

rs_200645738

8 SubmittersRCV000728777 RCV001245116 RCV003994099 RCV005036052 RCV006704843

NM_017777.4(MKS1):c.515+8C>T

SNV
Germline

Chr17:58214733

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669500

rs_376823839

3 SubmittersRCV000728889 RCV001086414 RCV004535815

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

3 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

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356428591

rs_1179041639

2 SubmittersRCV000729709 RCV001868945

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

Criteria Provided
Conflicting Classifications

CA2863525

rs_188018643

4 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
Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA348093020

rs_1349732291

3 SubmittersRCV000730826 RCV002493328 RCV003748273

NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)

SNV
Germline

Chr4:15550961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA438388076

rs_1379770755

3 SubmittersRCV000731362 RCV001148605 RCV001150182 RCV001419735

NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=)

SNV
Germline

Chr4:15480823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863308

rs_766042434

3 SubmittersRCV000731727 RCV004535850 RCV002535237

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

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

Criteria Provided
Conflicting Classifications

CA2863876

rs_377188181

4 SubmittersRCV000732284 RCV001427308 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-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
RPGRIP1L-related disorder
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281343836

rs_1037406858

5 SubmittersRCV000732387 RCV001855682 RCV002485914 RCV004535855 RCV006642556

NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)

SNV
Germline

Chr14:58428328

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 23
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7205258

rs_202124602

7 SubmittersRCV000732393 RCV001809790 RCV001318623 RCV002535271 RCV006268983

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371685136

rs_1563672487

4 SubmittersRCV000732837 RCV003768227 RCV004586909 RCV005047001

NM_017777.4(MKS1):c.1274-4G>A

SNV
Germline

Chr17:58207222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669177

rs_377033778

3 SubmittersRCV000733086 RCV001405920 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
Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 2
CC2D2A-related disorder
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA92536417

rs_886940102

7 SubmittersRCV000733512 RCV003106045 RCV004798862 RCV004527765 RCV005036071 RCV006692649

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

3 SubmittersRCV000733985 RCV001088443

NM_001378615.1(CC2D2A):c.2016G>A (p.Ser672=)

SNV
Germline

Chr4:15540849

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863826

rs_369398469

2 SubmittersRCV000734123 RCV001458145

NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr4:15514740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863489

rs_374554530

6 SubmittersRCV000734125 RCV001145026 RCV001063569 RCV001145025 RCV003258954 RCV004527766 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

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

Criteria Provided
Conflicting Classifications

CA222895076

rs_769285695

4 SubmittersRCV000735031 RCV001102917 RCV001496135 RCV001102918 RCV004540076

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

SNV
Germline

Chr2:110164685

Conflicting classifications of pathogenicity

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

Joubert syndrome 33
Cephalocele
Joubert syndrome 33
Dandy-Walker syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7002302

rs_144610914

7 SubmittersRCV000735944 RCV000779664 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281339352

rs_145807002

3 SubmittersRCV000760815 RCV001869036 RCV002485971

NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)

SNV
Germline

Chr6:135394853

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Joubert syndrome
Joubert syndrome 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4012186

rs_777215595

10 SubmittersRCV000762434 RCV001073854 RCV001002862 RCV001237047 RCV001785719 RCV004702399

NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter)

SNV
Germline

Chr4:15515900

Pathogenic

Inborn genetic diseases
Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA292014691

rs_990955357

4 SubmittersRCV001389425 RCV001729702 RCV003989601 RCV003472305

NM_001378615.1(CC2D2A):c.4496+2T>C

SNV
Germline

Chr4:15597467

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2864390

rs_386833762

2 SubmittersRCV001869137 RCV006635507

NM_024809.5(TCTN2):c.1770-2A>G

SNV
Germline

Chr12:123706724

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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

Cephalocele
Joubert syndrome 33
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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6
Retinitis pigmentosa 93

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711646

rs_561598805

7 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316 RCV005004418 RCV006642605

NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr12:88118660

Pathogenic/Likely pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241153138

rs_968692633

10 SubmittersRCV000787560 RCV001073923 RCV001244155 RCV001090823 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

5 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
Joubert syndrome 9
not specified

Criteria Provided
Conflicting Classifications

CA356433891

rs_780673487

3 SubmittersRCV000821855 RCV006556724 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

Meckel-Gruber syndrome
Joubert 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

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA181341875

rs_112261772

2 SubmittersRCV000794153 RCV006459911

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 1
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Retinitis pigmentosa
CEP290-related disorder
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related ciliopathy

Reviewed By Expert Panel

CA241150716

rs_778030031

9 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535 RCV004733054 RCV005870904 RCV006642661 RCV006732189

NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter)

SNV
Germline

Chr12:88087788

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

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
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
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

CA385999345

rs_1339975972

4 SubmittersRCV000820623 RCV003467498 RCV005004450

NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)

SNV
Germline

Chr12:88089259

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA386000671

rs_1468942944

4 SubmittersRCV000823686 RCV001830822 RCV003467520 RCV006545565

NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)

SNV
Germline

Chr12:88118549

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712499

rs_760415289

10 SubmittersRCV000810414 RCV001274127 RCV001091339 RCV004733051 RCV002487758 RCV004818045 RCV003467439

NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr12:88125363

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385981555

rs_1592656929

1 SubmittersRCV000791790

NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr12:88136762

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987715

rs_1290241933

9 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052 RCV005004443 RCV005633729

NM_025114.4(CEP290):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr12:88140970

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385989775

rs_1592706963

2 SubmittersRCV000823106 RCV006642676

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
Uterine corpus endometrial carcinoma
Joubert syndrome 7
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA8057670

rs_751477523

5 SubmittersRCV000807403 RCV001825602 RCV005902021 RCV005231360 RCV006685337

NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter)

SNV
Germline

Chr16:53652814

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395917140

rs_1156977888

2 SubmittersRCV000817193 RCV006642664

NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter)

SNV
Germline

Chr16:53672953

Pathogenic

Meckel-Gruber syndrome
Joubert 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
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395925850

rs_751444506

6 SubmittersRCV000793385 RCV002282368 RCV002263980 RCV004733043 RCV005021195 RCV006642619

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

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

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 and related disorders
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012367

rs_187245292

4 SubmittersRCV000819382 RCV000998688 RCV004768701 RCV005036211

NM_025114.4(CEP290):c.3104-5T>G

SNV
Germline

Chr12:88093980

Pathogenic/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

CA693075676

rs_1302558061

2 SubmittersRCV000824247 RCV005004455

NM_015272.5(RPGRIP1L):c.3617-2A>G

SNV
Germline

Chr16:53611053

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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

3 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

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711680

rs_186330724

3 SubmittersRCV000841438 RCV001219059 RCV004538159

NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)

SNV
Germline

Chr12:88089085

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA6711864

rs_369451049

9 SubmittersRCV001244303 RCV001000093 RCV001830860 RCV003889992 RCV004538167 RCV005012383 RCV004029250 RCV003448352 RCV006459974

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
Retinitis pigmentosa 93
Joubert syndrome 9

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

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

Criteria Provided
Conflicting Classifications

CA6861123

rs_372235872

2 SubmittersRCV001114301 RCV001114300 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
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Condition: not provided
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
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

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

Criteria Provided
Conflicting Classifications

CA6712401

rs_200454865

8 SubmittersRCV000860704 RCV001111804 RCV001111805 RCV001111806 RCV001112276 RCV001275033 RCV001546810 RCV001111807 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
Joubert syndrome 1
MORM syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5337006

rs_200794870

4 SubmittersRCV000866301 RCV004540197 RCV005047132 RCV005633767

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

Criteria Provided
Conflicting Classifications

CA6711720

rs_370464321

4 SubmittersRCV000868428 RCV001112881 RCV001114240 RCV001112880 RCV001114242 RCV001114241 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
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
CEP290-related disorder
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6711789

rs_757738553

5 SubmittersRCV000869753 RCV001110312 RCV001110314 RCV001110313 RCV001110315 RCV001110316 RCV004538287 RCV004797884 RCV005012389

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
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
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

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
CEP290-related disorder
Genetic developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712248

rs_546463648

6 SubmittersRCV000868237 RCV001113520 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV004540210 RCV005626246 RCV006732237

NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712294

rs_147362398

7 SubmittersRCV000864755 RCV001111623 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001275029 RCV002294390 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
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057385

rs_574430009

4 SubmittersRCV000868807 RCV001115635 RCV001115637 RCV001115636 RCV001271324 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
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA8669231

rs_770493819

3 SubmittersRCV000866054 RCV001123684 RCV001123685

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

SNV
Germline

Chr17:58213785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8669436

rs_373491923

4 SubmittersRCV000868086 RCV001128410 RCV001128411 RCV004540208

NM_015272.5(RPGRIP1L):c.2305-8T>G

SNV
Germline

Chr16:53646011

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Kidney disorder

Criteria Provided
Conflicting Classifications

CA281339553

rs_953486434

3 SubmittersRCV000867250 RCV001279157 RCV002294391

NM_003611.3(OFD1):c.2600-4T>G

SNV
Germline

ChrX:13767123

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
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
Joubert syndrome 1
MORM syndrome

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
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
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

Orofaciodigital syndrome I
Joubert syndrome
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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
Condition: not provided
Inborn genetic diseases
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

CA7205280

rs_183168709

5 SubmittersRCV000954008 RCV001559430 RCV004629391 RCV003925991

NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)

SNV
Germline

Chr14:58444066

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Condition: not provided
not specified
Inborn genetic diseases
KIAA0586-related disorder

Criteria Provided
Conflicting Classifications

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
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
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
KIAA0586-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7206283

rs_181413894

4 SubmittersRCV000951210 RCV001473687 RCV003943031 RCV004986710

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

Joubert syndrome 17
Condition: not provided
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA3238628

rs_373122844

4 SubmittersRCV001158022 RCV002066423 RCV003960842

NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu)

SNV
Germline

Chr14:58547844

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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
Condition: not provided
Inborn genetic diseases
CEP104-related disorder

Criteria Provided
Conflicting Classifications

CA551522

rs_140512094

4 SubmittersRCV002065589 RCV003489958 RCV002539405 RCV003940731

NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)

SNV
Germline

Chr2:201636846

Conflicting classifications of pathogenicity

Joubert syndrome 14
Condition: not provided
Inborn genetic diseases
TMEM237-related disorder

Criteria Provided
Conflicting Classifications

CA2056554

rs_199624987

5 SubmittersRCV000879981 RCV001563528 RCV002536816 RCV003908400

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
Orofaciodigital syndrome I
Joubert syndrome

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

Criteria Provided
Conflicting Classifications

CA2863861

rs_376312792

4 SubmittersRCV000896097 RCV005029526 RCV005860162

NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)

SNV
Germline

Chr9:136431894

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA5336780

rs_754015058

2 SubmittersRCV001168594 RCV006464638

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

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

Criteria Provided
Conflicting Classifications

CA6711508

rs_372986399

4 SubmittersRCV000915534 RCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001114082 RCV001272014 RCV004533513

NM_014704.4(CEP104):c.626A>G (p.Glu209Gly)

SNV
Germline

Chr1:3839717

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 25
not specified

Criteria Provided
Conflicting Classifications

CA551863

rs_140029326

3 SubmittersRCV000981702 RCV002066495 RCV005236495

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_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val)

SNV
Germline

Chr14:58457964

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7205685

rs_556274091

2 SubmittersRCV000983918 RCV006265514

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
Medulloblastoma
Joubert syndrome 32
Familial meningioma
Basal cell nevus syndrome 2

Criteria Provided
Conflicting Classifications

CA377886198

rs_1456048322

3 SubmittersRCV000988446 RCV003238258 RCV005392622

NM_025114.4(CEP290):c.6271-8T>G

SNV
Germline

Chr12:88062786

Pathogenic

Joubert syndrome 1
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
See cases
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related ciliopathy

Reviewed By Expert Panel

CA241147940

rs_1039146791

6 SubmittersRCV000988880 RCV001869357 RCV002252287 RCV003467551 RCV006642691 RCV006730389

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

Likely pathogenic

Joubert syndrome 1
Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
not specified
Retinitis pigmentosa
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA6712876

rs_779010679

7 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415 RCV006730390

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_020921.4(NIN):c.6115C>T (p.Arg2039Ter)

SNV
Germline

Chr14:50726030

Likely pathogenic

Seckel syndrome 7
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7180989

rs_373844676

2 SubmittersRCV000991450 RCV005861189

NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)

SNV
Germline

Chr4:15511353

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert 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

3 SubmittersRCV000999289 RCV001362814

NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)

SNV
Germline

Chr12:88053733

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711362

rs_375548374

8 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027 RCV004818114 RCV005012429 RCV006642701

NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=)

SNV
Germline

Chr16:53619193

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8057860

rs_138383101

7 SubmittersRCV000996272 RCV001246734 RCV001832313 RCV004536031 RCV005268850 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
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Retinal dystrophy
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA385984785

rs_1592784618

6 SubmittersRCV001002935 RCV001860525 RCV003467562 RCV003890157 RCV004004474

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

Pathogenic/Likely pathogenic

Joubert syndrome 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

CA2863737

rs_368669579

3 SubmittersRCV001070174 RCV001149504 RCV001149505 RCV005792006

NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg)

SNV
Germline

Chr4:15553295

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863928

rs_201946793

4 SubmittersRCV001062778 RCV003159178 RCV004528368 RCV004963078

NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=)

SNV
Germline

Chr4:15555210

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9
Meckel syndrome, type 6
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA2864141

rs_760676442

6 SubmittersRCV001041856 RCV001280749 RCV002276597 RCV002489573 RCV006707749

NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu)

SNV
Germline

Chr4:15580125

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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
CPLANE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3238521

rs_766699868

5 SubmittersRCV001039457 RCV001332486 RCV002505565 RCV006261990

NM_001384732.1(CPLANE1):c.3805G>C (p.Ala1269Pro)

SNV
Germline

Chr5:37195864

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3238856

rs_775914551

3 SubmittersRCV001052732 RCV004753184 RCV006453526

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
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4011995

rs_200250333

3 SubmittersRCV001062557 RCV002505633 RCV004619504

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
Condition: not provided
not specified
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4012684

rs_201790260

6 SubmittersRCV001063689 RCV001074632 RCV002511028 RCV003317426 RCV002553946 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
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365751692

rs_192524061

4 SubmittersRCV001066257 RCV002067723 RCV002482100 RCV004030603

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
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4771023

rs_200546493

5 SubmittersRCV001034776 RCV002552064 RCV003432994 RCV005912422

NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly)

SNV
Germline

Chr8:93795949

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
TMEM67-related disorder
6 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4808110

rs_142283122

4 SubmittersRCV001047514 RCV004733124 RCV005049744 RCV004963030

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

Criteria Provided
Conflicting Classifications

CA5337047

rs_753742613

4 SubmittersRCV001062720 RCV004720745 RCV005047274 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

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

Criteria Provided
Conflicting Classifications

CA5667737

rs_765345575

4 SubmittersRCV001066850 RCV002365764 RCV002497467 RCV006274133

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

Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385976661

rs_2033943937

3 SubmittersRCV001063917 RCV001074527 RCV005012517

NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)

SNV
Germline

Chr12:88059909

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385977934

rs_2034330893

1 SubmittersRCV001053194

NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)

SNV
Germline

Chr12:88089468

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA386001282

rs_372640024

2 SubmittersRCV001045344 RCV006642772

NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr12:88106887

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Abnormality of prenatal development or birth
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA241149016

rs_903257336

3 SubmittersRCV001046023 RCV001814260 RCV006642775

NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712356

rs_199583200

5 SubmittersRCV001057249 RCV001111727 RCV001111723 RCV001111725 RCV001111724 RCV001111726 RCV001562596 RCV001832517 RCV004536115

NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr12:88118567

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert 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

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

Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8057588

rs_542206983

5 SubmittersRCV001052996 RCV003323789 RCV005021379 RCV005638545 RCV006642800

NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter)

SNV
Germline

Chr16:53671561

Pathogenic

Meckel-Gruber syndrome
Joubert 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

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

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

Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA8669566

rs_201476674

6 SubmittersRCV001058713 RCV001827371 RCV002275203 RCV002468132 RCV004528365 RCV004031852

NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)

SNV
Germline

ChrX:13746366

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome

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

Meckel-Gruber syndrome
Joubert 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

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356408712

rs_1716552711

1 SubmittersRCV001047515

NM_025114.4(CEP290):c.4030-2A>G

SNV
Germline

Chr12:88087946

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385999375

rs_2036722229

1 SubmittersRCV001041071

NM_001378615.1(CC2D2A):c.3183-1G>T

SNV
Germline

Chr4:15567376

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA400324794

rs_1567795088

1 SubmittersRCV001049916

NM_025114.4(CEP290):c.1712-2A>T

SNV
Germline

Chr12:88117147

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA6712506

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

NM_025114.4(CEP290):c.1189+1G>A

SNV
Germline

Chr12:88125245

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA385981026

rs_2039659434

6 SubmittersRCV001063723 RCV001274129 RCV001814265 RCV003467821 RCV005633863

NM_001082538.3(TCTN1):c.843+1G>C

SNV
Germline

Chr12:110636502

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386704052

rs_2066579666

1 SubmittersRCV001035553

NM_015272.5(RPGRIP1L):c.3616+1G>A

SNV
Germline

Chr16:53619024

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395923320

rs_1964549409

1 SubmittersRCV001037424

NM_025114.4(CEP290):c.3573+2T>C

SNV
Germline

Chr12:88090726

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA386001535

rs_1219277452

1 SubmittersRCV001061596

NM_015272.5(RPGRIP1L):c.1244-1G>T

SNV
Germline

Chr16:53658879

Likely pathogenic

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

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

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

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 1
Joubert syndrome
Rod-cone dystrophy
Condition: not provided
INPP5E-related disorder
Joubert syndrome 1
MORM syndrome

Criteria Provided
Conflicting Classifications

CA5336803

rs_375909217

7 SubmittersRCV001074129 RCV001198896 RCV001320437 RCV001376361 RCV003329377 RCV004528376 RCV005047292

NM_019892.6(INPP5E):c.1133G>A (p.Arg378His)

SNV
Germline

Chr9:136433181

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome
Condition: not provided
Joubert syndrome 1
MORM syndrome
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

CA5336943

rs_758951947

5 SubmittersRCV001074128 RCV001862537 RCV004590089 RCV005047291 RCV006688814

NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)

SNV
Germline

Chr12:88055644

Pathogenic/Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385976380

rs_2033937635

3 SubmittersRCV001074469 RCV003469275 RCV003768995

NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)

SNV
Germline

Chr12:88079202

Likely pathogenic

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

Reviewed By Expert Panel

CA6711749

rs_748471942

8 SubmittersRCV001074245 RCV001234472 RCV001759855 RCV003469274 RCV004733151 RCV006636590 RCV006730418

NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)

SNV
Germline

Chr12:88109135

Likely pathogenic

Retinal dystrophy
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Meckel syndrome, type 4
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Inborn genetic diseases
CEP290-related ciliopathy

Reviewed By Expert Panel

CA6712335

rs_762633090

7 SubmittersRCV001075311 RCV001243657 RCV003331040 RCV001836118 RCV003469278 RCV005540273 RCV006730421

NM_025114.4(CEP290):c.6012-12T>A

SNV
Germline

Chr12:88068657

Pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711593

rs_752197734

5 SubmittersRCV001073239 RCV003469270 RCV005253708 RCV003768988 RCV006636583

NM_025114.4(CEP290):c.5586+1G>C

SNV
Germline

Chr12:88077696

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977236

rs_2034232539

4 SubmittersRCV001090821 RCV003469280 RCV003769016 RCV005012543

NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)

SNV
Germline

Chr12:88068626

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241149784

rs_750073051

6 SubmittersRCV001090822 RCV002554821 RCV003469281 RCV005012544 RCV006636617

NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)

SNV
Germline

Chr12:88118673

Pathogenic

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

Reviewed By Expert Panel

CA6712521

rs_763559949

6 SubmittersRCV001091340 RCV002555950 RCV003469282 RCV006636624 RCV006730422

NM_025114.4(CEP290):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:88141306

Pathogenic

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

Reviewed By Expert Panel

CA6712933

rs_368984997

8 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004536141 RCV004813738 RCV006636625 RCV006730423

NM_025114.4(CEP290):c.1A>G (p.Met1Val)

SNV
Germline

Chr12:88141307

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
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 20
Meckel syndrome, type 11
Joubert syndrome 20
Joubert syndrome and related disorders
Orofacial-digital syndrome III

Criteria Provided
Conflicting Classifications

CA396807047

rs_1442638461

6 SubmittersRCV001091760 RCV001266402 RCV001335605 RCV001382651 RCV002240644 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
Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA6861295

rs_553095875

3 SubmittersRCV001111039 RCV001111038 RCV002069789 RCV005411663

NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711638

rs_752046733

2 SubmittersRCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001112803 RCV001462557

NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241153115

rs_777353443

2 SubmittersRCV001110125 RCV001110126 RCV001110128 RCV001110127 RCV001110129 RCV002067798

NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA481077013

rs_1159465602

2 SubmittersRCV001113347 RCV001114719 RCV001113346 RCV001114717 RCV001114718 RCV001400067

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712702

rs_200587974

6 SubmittersRCV001109864 RCV001109865 RCV001109862 RCV001109863 RCV001113893 RCV001244757 RCV001279936 RCV002497520 RCV003227912 RCV004538332

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA281347621

rs_35669682

2 SubmittersRCV001118426 RCV001118428 RCV001118427 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
Joubert syndrome 7
Meckel syndrome, type 5
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

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8057593

rs_768672275

2 SubmittersRCV001117154 RCV001117155 RCV001117156 RCV001433946

NM_015272.5(RPGRIP1L):c.530-15T>C

SNV
Germline

Chr16:53687980

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Meckel-Gruber syndrome
Joubert 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

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA1139664700

rs_1970739259

2 SubmittersRCV001119073 RCV001117473 RCV001119072 RCV002069898

NM_015681.6(B9D1):c.568A>T (p.Thr190Ser)

SNV
Germline

Chr17:19343366

Conflicting classifications of pathogenicity

Meckel syndrome, type 9
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
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
Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA53520166

rs_189472793

1 SubmittersRCV001135695 RCV001135696 RCV001135697

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
Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Conflicting Classifications

CA2863744

rs_543650388

5 SubmittersRCV001145126 RCV001145127 RCV002032368 RCV002557107 RCV004528397 RCV005029722

NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)

SNV
Germline

Chr4:15555101

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert 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

Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2863551

rs_200340261

2 SubmittersRCV001147956 RCV001147955 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.7478G>A (p.Arg2493Gln)

SNV
Germline

Chr5:37165594

Conflicting classifications of pathogenicity

Joubert syndrome 17
Joubert syndrome 17
Orofaciodigital syndrome type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3238053

rs_183942272

3 SubmittersRCV001156246 RCV002480559 RCV006655709

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
Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3238629

rs_536461045

4 SubmittersRCV001158023 RCV002497586 RCV003718370

NM_001384732.1(CPLANE1):c.4248G>A (p.Val1416=)

SNV
Germline

Chr5:37185021

Conflicting classifications of pathogenicity

Joubert syndrome 17
Condition: not provided
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.1694G>A (p.Arg565His)

SNV
Germline

Chr6:135447093

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4012542

rs_372894716

8 SubmittersRCV001154712 RCV001321179 RCV001586010 RCV005253726 RCV005831786

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
Meckel-Gruber syndrome
Joubert 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 1
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA5336681

rs_760729838

2 SubmittersRCV001166876 RCV002067815

NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)

SNV
Germline

Chr9:136431980

Conflicting classifications of pathogenicity

Joubert syndrome 1
Joubert syndrome
Rod-cone dystrophy
not specified
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5336804

rs_750331066

5 SubmittersRCV001168596 RCV001238911 RCV001376392 RCV003387968 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
Meckel-Gruber syndrome
Joubert 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
Condition: not provided
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA356433780

rs_1721483506

5 SubmittersRCV001175193 RCV003142100 RCV004527415 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
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Condition: not provided
MKS1-related disorder
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Multiple Submitters
No Conflicts

CA8669557

rs_762482919

7 SubmittersRCV001175216 RCV001389263 RCV003473720 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4807502

rs_748221725

4 SubmittersRCV001193312 RCV002561008 RCV002480641 RCV005749740

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6861058

rs_754596743

3 SubmittersRCV001198916 RCV002559269 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
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA281339134

rs_770291169

3 SubmittersRCV001199009 RCV001863136 RCV006721237

NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr16:53652883

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8057699

rs_745413543

5 SubmittersRCV001199008 RCV001241219 RCV002509625 RCV005012592 RCV006636646

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281371218

rs_993394322

6 SubmittersRCV001198756 RCV001225531 RCV002265959 RCV004538435 RCV005021492 RCV006636645

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241149791

rs_555755221

5 SubmittersRCV001198220 RCV001211579 RCV001828613 RCV003469314 RCV006697114

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

Joubert syndrome 21
Inborn genetic diseases
Uveal melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA4770471

rs_760205035

3 SubmittersRCV001221087 RCV005540318 RCV005909048

NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)

SNV
Germline

Chr12:88089250

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000654

rs_1412133967

10 SubmittersRCV001222226 RCV001529282 RCV001828771 RCV002283532 RCV004813908 RCV004546619 RCV005866870

NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter)

SNV
Germline

Chr16:53692285

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8058135

rs_547189939

2 SubmittersRCV001221261 RCV006636685

NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)

SNV
Germline

Chr17:58207945

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8669228

rs_781423785

4 SubmittersRCV001219659 RCV002497749 RCV003473772 RCV006636683

NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)

SNV
Germline

Chr3:132689106

Pathogenic/Likely pathogenic

Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related disorder
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA2621913

rs_148670389

5 SubmittersRCV001205716 RCV002504239 RCV004528417 RCV006688925

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.1123G>C (p.Ala375Pro)

SNV
Germline

Chr4:15516730

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863568

rs_759668652

2 SubmittersRCV001213511 RCV005792036

NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)

SNV
Germline

Chr4:15557452

Pathogenic/Likely pathogenic

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

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 3
Joubert syndrome and related disorders
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365751567

rs_1270654737

4 SubmittersRCV001204778 RCV002491618 RCV003492229 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_001382391.1(CSPP1):c.799C>T (p.Arg267Cys)

SNV
Germline

Chr8:67095608

Conflicting classifications of pathogenicity

Joubert syndrome 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4770360

rs_114953032

2 SubmittersRCV001201461 RCV005809454

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
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA386001942

rs_2036974151

1 SubmittersRCV001204615

NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)

SNV
Germline

Chr12:88117104

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA385978257

rs_867094910

3 SubmittersRCV001203138 RCV004570424 RCV006730465

NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)

SNV
Germline

Chr12:88136746

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

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
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281341913

rs_546150528

2 SubmittersRCV001207419 RCV006636657

NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg)

SNV
Germline

Chr16:53656522

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA8057744

rs_772900011

2 SubmittersRCV001213020 RCV006688938

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
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Joubert syndrome and related disorders
Joubert syndrome with renal defect
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827253

rs_150520157

5 SubmittersRCV001203841 RCV001535975 RCV003226442 RCV003462683 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

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA6711675

rs_759850328

2 SubmittersRCV001211207 RCV001833851

NM_001082538.3(TCTN1):c.713-2A>G

SNV
Germline

Chr12:110634668

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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

4 SubmittersRCV001226706 RCV003132298 RCV004757384

NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)

SNV
Germline

Chr12:88090787

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

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

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

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

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395926336

rs_1456208953

4 SubmittersRCV001231979 RCV002497792 RCV004538486 RCV006636713

NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter)

SNV
Germline

Chr16:53652583

Pathogenic

Meckel-Gruber syndrome
Joubert 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

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

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

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA395923794

rs_1970021137

1 SubmittersRCV001225530

NM_017777.4(MKS1):c.79C>T (p.Arg27Ter)

SNV
Germline

Chr17:58219152

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA400328102

rs_1161451203

2 SubmittersRCV001228561 RCV006636705

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

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

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
Joubert syndrome 17
Orofaciodigital syndrome type 6

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
MORM syndrome
Joubert syndrome 1

Criteria Provided
Conflicting Classifications

CA5337054

rs_138068434

3 SubmittersRCV001242650 RCV004756197 RCV005040083

NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711621

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524

NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)

SNV
Germline

Chr12:88121121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712594

rs_189280108

6 SubmittersRCV001244829 RCV001835216 RCV002504354 RCV004538514 RCV004720814 RCV004978200

NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val)

SNV
Germline

Chr16:53700650

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8058230

rs_143515432

5 SubmittersRCV001240153 RCV001277875 RCV002567944 RCV003442801 RCV004733203

NM_001378615.1(CC2D2A):c.4066-1G>A

SNV
Germline

Chr4:15587815

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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
Joubert syndrome 2
Meckel syndrome, type 2
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA380685752

rs_1211592806

3 SubmittersRCV001235530 RCV002480768 RCV006636725

NM_025114.4(CEP290):c.942+1G>C

SNV
Germline

Chr12:88128945

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
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

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

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

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Conflicting Classifications

CA623583503

rs_1472951348

2 SubmittersRCV001247446

NM_017777.4(MKS1):c.959-2A>G

SNV
Germline

Chr17:58210726

Likely pathogenic

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

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
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA4807931

rs_386834183

5 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
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012414

rs_376754552

4 SubmittersRCV001252131 RCV002570490 RCV004774362

NM_003611.3(OFD1):c.382G>A (p.Val128Ile)

SNV
Germline

ChrX:13739002

Conflicting classifications of pathogenicity

Intellectual disability
Orofaciodigital syndrome I
Joubert syndrome
Retinitis pigmentosa 23
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412333972

rs_766600036

4 SubmittersRCV001252089 RCV003770308 RCV005040101 RCV006391839

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

Intellectual disability
Joubert syndrome 5

Criteria Provided
Single Submitter

CA385981830

rs_2035114607

1 SubmittersRCV001255342 RCV001262195

NM_003611.3(OFD1):c.599T>C (p.Leu200Pro)

SNV
Not applicable

ChrX:13746400

Pathogenic

Joubert syndrome 10

Criteria Provided
Single Submitter

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
Orofaciodigital syndrome I
Joubert syndrome
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10352061

rs_748643730

4 SubmittersRCV001257024 RCV003770338 RCV004800761 RCV004035368

NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)

SNV
Germline

Chr4:15537063

Pathogenic

Polycystic kidney disease
Encephalocele
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
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

Polycystic kidney disease
Encephalocele
Meckel-Gruber syndrome
Joubert 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

Polycystic kidney disease
Severe hydrocephalus
Encephalocele
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
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

CA6711738

rs_774410421

4 SubmittersRCV001257363 RCV001382992 RCV004570649 RCV005012700

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
Joubert syndrome 37
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7167015

rs_150433582

4 SubmittersRCV001257976 RCV001293021 RCV001776163

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
Meckel-Gruber syndrome
Joubert syndrome
Retinal dystrophy
CC2D2A-related disorder
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA2863997

rs_781206278

7 SubmittersRCV001261566 RCV001558265 RCV001880021 RCV004814036 RCV005866905 RCV006698368

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

Joubert syndrome 5
Meckel syndrome, type 6

Criteria Provided
Single Submitter

CA385994093

rs_1292516576

1 SubmittersRCV001261602 RCV001261608

NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)

SNV
Germline

Chr4:15557481

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2864005

rs_563610095

4 SubmittersRCV002499450 RCV001880034 RCV002541585 RCV005432641

NM_025114.4(CEP290):c.6271-1G>A

SNV
Germline

Chr12:88062779

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2034579709

1 SubmittersRCV005012702

NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)

SNV
Germline

Chr12:88089214

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome 5
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel syndrome, type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA386000583

rs_2036824785

6 SubmittersRCV001390760 RCV003120515 RCV003469489 RCV004796396 RCV005005128 RCV006454722

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

Criteria Provided
Conflicting Classifications

CA412344682

rs_1260959326

3 SubmittersRCV001262142 RCV003770364 RCV005040107

NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)

SNV
Germline

Chr11:125097716

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel syndrome, type 4
Joubert syndrome 39
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6347295

rs_141744337

4 SubmittersRCV001263490 RCV001263493 RCV001729826 RCV006742032

NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)

SNV
Germline

Chr11:125102216

Pathogenic

Joubert syndrome 39
Joubert syndrome

No Assertion Criteria Provided

CA383169836

rs_1950967763

2 SubmittersRCV001729827 RCV001263491

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

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2864244

rs_754586025

2 SubmittersRCV002537713 RCV006455579

NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)

SNV
Germline

Chr6:135433047

Pathogenic

Nephronophthisis
Joubert syndrome
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA148122329

rs_766069291

3 SubmittersRCV001328118 RCV002537719 RCV006646512

NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)

SNV
Germline

Chr12:88117110

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
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
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
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
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385994080

rs_1292516576

4 SubmittersRCV001283851 RCV003135916 RCV002541764 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

Pathogenic/Likely pathogenic

Joubert syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4807657

rs_775716868

4 SubmittersRCV001293702 RCV003770476 RCV006262352

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
Orofaciodigital syndrome type 6
Joubert syndrome 17

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
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864460

rs_762773515

3 SubmittersRCV001312038 RCV002543588 RCV004034246

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
Inborn genetic diseases
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238261

rs_765250980

4 SubmittersRCV001314015 RCV004034304 RCV005038060

NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp)

SNV
Germline

Chr5:37170194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375564463

rs_1835755632

5 SubmittersRCV001327708 RCV004719040 RCV004690080 RCV005040190 RCV006258534

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

Joubert syndrome 20
Meckel syndrome, type 11

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
Joubert syndrome
Meckel-Gruber 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 25
Joubert syndrome and related disorders
Autosomal recessive CEP104-related disorders

Criteria Provided
Conflicting Classifications

CA551754

rs_144744629

5 SubmittersRCV001765362 RCV001868445 RCV003155427 RCV006633988

NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)

SNV
Germline

Chr2:110131733

Pathogenic

Joubert syndrome with renal defect
Nephronophthisis
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
NPHP1-related disorder
Nephronophthisis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1826966

rs_547352656

6 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
Orofaciodigital syndrome type 6
Joubert syndrome 17
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA3237577

rs_150242262

5 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
Germline

Chr7:130428020

Pathogenic/Likely pathogenic

Joubert syndrome 15

Criteria Provided
Multiple Submitters
No Conflicts

CA369287584

rs_1797714974

2 SubmittersRCV001331069

NM_025114.4(CEP290):c.2217+2T>C

SNV
Germline

Chr12:88111692

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385974764

rs_2038702746

2 SubmittersRCV001330036 RCV001863212

NM_001329943.3(KIAA0586):c.4324-1G>A

SNV
Germline

Chr14:58512521

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7206372

rs_753649082

5 SubmittersRCV001333030 RCV002462940 RCV005225383 RCV006249746 RCV004820876

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8057595

rs_767686118

5 SubmittersRCV001975234 RCV002469441 RCV002479591 RCV006639304 RCV005631000

NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)

SNV
Germline

Chr16:75555865

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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
Joubert syndrome
Meckel-Gruber 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

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

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

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

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
Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA2864430

rs_763425007

1 SubmittersRCV001337954

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

SNV
Germline

Chr4:15601236

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2864455

rs_764806176

2 SubmittersRCV006697714 RCV001348894

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

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

Criteria Provided
Conflicting Classifications

CA4012262

rs_370101143

4 SubmittersRCV001348147 RCV001357865 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
Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA181312007

rs_970248353

3 SubmittersRCV001358730 RCV002547699 RCV005040212

NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln)

SNV
Germline

Chr4:15527565

Conflicting classifications of pathogenicity

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

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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
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

Joubert syndrome 27
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome and related disorders
B9D1-related disorder
Glioma susceptibility 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8440265

rs_778260923

7 SubmittersRCV001726509 RCV001871960 RCV003234061 RCV003230666 RCV004734157 RCV005912568

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 3
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4012062

rs_761732432

4 SubmittersRCV001376376 RCV002493913 RCV002550234 RCV005256786

NM_019892.6(INPP5E):c.1670G>A (p.Arg557His)

SNV
Germline

Chr9:136430409

Likely pathogenic

Rod-cone dystrophy
Joubert syndrome
Joubert syndrome 1
MORM syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA201638363

rs_992814593

3 SubmittersRCV001376234 RCV001871983 RCV005050361

NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)

SNV
Germline

Chr9:136438674

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5337089

rs_550485638

9 SubmittersRCV001376540 RCV002550959 RCV003226465 RCV001871993 RCV003147627 RCV004697127 RCV004815503 RCV004756227 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356408039

rs_2108998253

1 SubmittersRCV001378848

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

SNV
Germline

Chr4:15511424

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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
Uterine carcinosarcoma
Malignant tumor of urinary bladder

Criteria Provided
Single Submitter

CA4770739

rs_199791452

2 SubmittersRCV001377061 RCV005912585 RCV005912584

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
Joubert syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA380685014

rs_1858735439

2 SubmittersRCV001377336 RCV004570922

NM_025114.4(CEP290):c.6357+1G>A

SNV
Germline

Chr12:88062691

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

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241168580

rs_1007902545

3 SubmittersRCV001379336 RCV003469638 RCV006636861

NM_025114.4(CEP290):c.943-1G>C

SNV
Germline

Chr12:88126439

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

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

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

Criteria Provided
Conflicting Classifications

CA395924229

rs_1258182460

3 SubmittersRCV001378533 RCV001751748 RCV005005906

NM_015272.5(RPGRIP1L):c.632+1G>A

SNV
Germline

Chr16:53687862

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395924361

rs_1376397728

3 SubmittersRCV001378777 RCV005014517 RCV006636853

NM_015272.5(RPGRIP1L):c.530-1G>C

SNV
Germline

Chr16:53687966

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA292008596

rs_933577333

5 SubmittersRCV001377156 RCV001548771 RCV002504627 RCV003225970 RCV004570921

NM_017777.4(MKS1):c.1166-1G>C

SNV
Germline

Chr17:58208002

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA8669236

rs_776174898

1 SubmittersRCV001378613

NM_017777.4(MKS1):c.1095+1G>A

SNV
Germline

Chr17:58208512

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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
Meckel-Gruber syndrome
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Conflicting Classifications

CA626729750

rs_765242131

3 SubmittersRCV001377798 RCV003152763 RCV003225971

NM_017777.4(MKS1):c.81-2A>T

SNV
Germline

Chr17:58218731

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Familial cancer of breast

Criteria Provided
Single Submitter

CA8669645

rs_756709080

2 SubmittersRCV001379397 RCV005912615

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356410983

rs_2109029867

4 SubmittersRCV001387946 RCV001814315 RCV004796624 RCV004733283

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
Condition: not provided
6 conditions
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4808174

rs_150332116

4 SubmittersRCV001384718 RCV003132490 RCV002499801 RCV004531194

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

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385972484

rs_1374014119

3 SubmittersRCV001384498 RCV002493927 RCV005614538

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711302

rs_775189201

3 SubmittersRCV001383766 RCV003469701 RCV006636926

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711612

rs_767426153

4 SubmittersRCV001388961 RCV003469749 RCV005005926 RCV006637001

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385999234

rs_779645669

5 SubmittersRCV001381486 RCV001836389 RCV003156344 RCV002476720 RCV004733280

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA386000397

rs_2036816455

3 SubmittersRCV001382323 RCV003469675 RCV006636902

NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)

SNV
Germline

Chr12:88089139

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000405

rs_1417251616

5 SubmittersRCV001385692 RCV004531195 RCV004699357 RCV005635142 RCV006636957

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/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA386007140

rs_2037477197

2 SubmittersRCV001382107 RCV006636899

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385982588

rs_2138021345

5 SubmittersRCV001386120 RCV003469719 RCV005409820 RCV005005236

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712832

rs_752144368

3 SubmittersRCV001386072 RCV003469718 RCV006636965

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
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395918201

rs_1676833644

4 SubmittersRCV001384117 RCV005014532 RCV005864566 RCV006636932

NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr16:53658443

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8057817

rs_776941281

5 SubmittersRCV001384296 RCV001562284 RCV002476726 RCV006636935

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
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

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
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8669299

rs_760971749

4 SubmittersRCV001387056 RCV003473975 RCV003145652 RCV005014537

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

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

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

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012780

rs_748182443

2 SubmittersRCV001432227 RCV001556602

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
Nephronophthisis
Meckel-Gruber syndrome
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
Nephronophthisis
Meckel-Gruber syndrome
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
Joubert syndrome 7
COACH syndrome 3

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

Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided
OFD1-related disorder
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA412339937

rs_1374240720

4 SubmittersRCV001430906 RCV003442882 RCV004540312 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_001378615.1(CC2D2A):c.784G>A (p.Asp262Asn)

SNV
Germline

Chr4:15514773

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863494

rs_758661538

3 SubmittersRCV001451759 RCV003151322 RCV005792133

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.5670A>C (p.Gly1890=)

SNV
Germline

Chr12:88077261

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
CEP290-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711679

rs_545964640

3 SubmittersRCV001459943 RCV004733332 RCV005642575

NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)

SNV
Germline

Chr12:88080279

Conflicting classifications of pathogenicity

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

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
Nephronophthisis
Meckel-Gruber syndrome
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
MORM syndrome
Joubert syndrome 1

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
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
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_003611.3(OFD1):c.2305A>G (p.Arg769Gly)

SNV
Germline

ChrX:13761129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10351979

rs_759933503

3 SubmittersRCV001517301 RCV005692352 RCV006437082

NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)

SNV
Unknown

Chr12:88096906

Likely pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
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
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Thyroid cancer, nonmedullary, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412342954

rs_2147027077

3 SubmittersRCV001535950 RCV005914516 RCV006650913

NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter)

SNV
Germline

Chr4:15528725

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Abnormality of prenatal development or birth

Criteria Provided
Multiple Submitters
No Conflicts

CA2863674

rs_145678228

2 SubmittersRCV001873813 RCV001814449

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
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA8057823

rs_750076702

5 SubmittersRCV001543698 RCV003127988 RCV003771669 RCV005005957 RCV005722490

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
Meckel-Gruber syndrome
Joubert syndrome 13
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA6786526

rs_200241085

4 SubmittersRCV001545104 RCV002032552 RCV002471121 RCV005915964

NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr12:88129834

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385985714

rs_2138086844

6 SubmittersRCV001544696 RCV002495869 RCV003470860 RCV001882615 RCV004782757 RCV006637044

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
Joubert syndrome 24
Meckel syndrome, type 8

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
Orofaciodigital syndrome I
Joubert syndrome

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6861181

rs_757485757

3 SubmittersRCV002569084 RCV005860239 RCV001576056

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
Joubert syndrome
Meckel-Gruber 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
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
not specified
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711892

rs_371157150

6 SubmittersRCV001652983 RCV001827558 RCV002539602 RCV002266008 RCV004528526 RCV005308494

NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)

SNV
Germline

Chr4:15601348

Pathogenic/Likely pathogenic

Joubert syndrome 9
CC2D2A-related disorder
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2864481

rs_780190318

4 SubmittersRCV001706785 RCV006705567 RCV005213557

NM_025114.4(CEP290):c.4705-2A>C

SNV
Germline

Chr12:88083956

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA385994211

rs_2137170380

2 SubmittersRCV001724852 RCV001859437 RCV002227536

NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr4:15511418

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

CA2863463

rs_761213221

4 SubmittersRCV001723363 RCV002539748 RCV005023216

NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)

SNV
Germline

ChrX:13751343

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided
Joubert syndrome 10

Criteria Provided
Conflicting Classifications

CA10351732

rs_758903488

5 SubmittersRCV001726720 RCV002538677 RCV003130543 RCV002471136

NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)

SNV
Germline

Chr9:26990143

Pathogenic/Likely pathogenic

Joubert syndrome 40
Condition: not provided
Inborn genetic diseases
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

Joubert syndrome 40
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA191315438

rs_1056125920

3 SubmittersRCV001731256 RCV002539803

NM_014704.4(CEP104):c.2621G>A (p.Arg874His)

SNV
Germline

Chr1:3816321

Conflicting classifications of pathogenicity

Condition: not provided
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
Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
OFD1-related disorder
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA515624183

rs_1355239331

5 SubmittersRCV001758295 RCV002077186 RCV004040083 RCV004738366 RCV005920710

NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)

SNV
Germline

ChrX:13746781

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375561616

rs_1161636527

3 SubmittersRCV001755662 RCV004756292 RCV004783983

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
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
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
Basal cell nevus syndrome 2
Joubert syndrome 32
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA377886157

rs_1322807658

5 SubmittersRCV002256837 RCV003238000 RCV005397013

NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)

SNV
Germline

Chr8:67112064

Conflicting classifications of pathogenicity

Joubert syndrome 21
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4770469

rs_775285273

3 SubmittersRCV001775247 RCV006275096

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
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Joubert syndrome 9
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA356424248

rs_1271825377

5 SubmittersRCV002471153 RCV003772133 RCV005038317 RCV005860256 RCV006698404

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
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4012852

rs_774628957

4 SubmittersRCV001783339 RCV006467949

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386006370

rs_1267970567

3 SubmittersRCV001780761 RCV003470909 RCV002544259

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
Joubert syndrome 23

Criteria Provided
Conflicting Classifications

CA7206373

rs_200127338

5 SubmittersRCV001786702 RCV001868881 RCV003401716 RCV005863480

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

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

Criteria Provided
Conflicting Classifications

CA8176120

rs_201412708

5 SubmittersRCV001797435 RCV002034659 RCV002544344

NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu)

SNV
Germline

Chr4:15540995

Conflicting classifications of pathogenicity

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA92534104

rs_533830027

2 SubmittersRCV001808877 RCV001869589

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

Joubert syndrome
Orofaciodigital syndrome I
not specified
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352070

rs_371848382

4 SubmittersRCV002074279 RCV001817300 RCV004040963 RCV005040396

NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)

SNV
Germline

Chr14:58498876

Conflicting classifications of pathogenicity

not specified
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
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
Joubert syndrome
Orofaciodigital syndrome I

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
See cases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5621068

rs_758733887

4 SubmittersRCV001817875 RCV002077318 RCV004584450 RCV004809681

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385973620

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936

NM_001082538.3(TCTN1):c.1494+1G>A

SNV
Germline

Chr12:110645130

Likely pathogenic

Joubert syndrome 13
Joubert syndrome
Meckel-Gruber 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
Joubert syndrome
Meckel-Gruber 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

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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
Meckel syndrome, type 5
Joubert syndrome 7
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

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

Criteria Provided
Conflicting Classifications

CA1827502

rs_368025611

6 SubmittersRCV001913820 RCV005023432 RCV003134231 RCV002555758

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

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
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA292016366

rs_12942386

2 SubmittersRCV002015057 RCV006639370

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

Joubert syndrome
Meckel-Gruber 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 RCV003464368 RCV005050506

NM_024809.5(TCTN2):c.1579G>T (p.Ala527Ser)

SNV
Germline

Chr12:123699777

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6861262

rs_760206821

2 SubmittersRCV001989346 RCV005749973

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
Multiple Submitters
No Conflicts

CA371194062

rs_2129547115

2 SubmittersRCV002009554

NM_001378615.1(CC2D2A):c.2181+17T>G

SNV
Germline

Chr4:15541031

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

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
Condition: not provided
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012486

rs_780823419

4 SubmittersRCV001922449 RCV004693905 RCV005038461 RCV005572696

NM_003611.3(OFD1):c.1205G>A (p.Arg402His)

SNV
Germline

ChrX:13755226

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712915

rs_763226787

6 SubmittersRCV002027685 RCV002498073 RCV003226528 RCV003471280 RCV006640872

NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr16:53664942

Pathogenic/Likely pathogenic

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

Criteria Provided
Conflicting Classifications

CA8669478

rs_754601373

4 SubmittersRCV001881480 RCV003166936 RCV004733398 RCV004774503

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
Orofaciodigital syndrome type 6
Joubert syndrome 17

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
Meckel syndrome, type 5
Joubert syndrome 7
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

Meckel-Gruber syndrome
Joubert 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

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977637

rs_1375836634

3 SubmittersRCV001941643 RCV003471149 RCV006639222

NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter)

SNV
Germline

Chr8:93797200

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4808154

rs_115195998

3 SubmittersRCV001939456 RCV005042592 RCV006454746

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_024809.5(TCTN2):c.82+11C>T

SNV
Germline

Chr12:123671333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6860763

rs_377654309

2 SubmittersRCV001947764 RCV005006225

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.2723G>A (p.Gly908Asp)

SNV
Germline

Chr16:53641436

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA395927424

rs_1478290807

2 SubmittersRCV001921034 RCV004594607

NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter)

SNV
Germline

Chr16:53652709

Pathogenic/Likely pathogenic

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

Meckel-Gruber syndrome
Joubert 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_153704.6(TMEM67):c.2100+3A>G

SNV
Germline

Chr8:93797473

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA181340935

rs_376417882

3 SubmittersRCV001889294 RCV002506968 RCV006454744

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_001378615.1(CC2D2A):c.3197C>T (p.Pro1066Leu)

SNV
Germline

Chr4:15567391

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864103

rs_556931817

2 SubmittersRCV002014260 RCV005792283

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5621200

rs_557962090

3 SubmittersRCV001992007 RCV004045504 RCV004763299

NM_001329943.3(KIAA0586):c.411-1486G>A

SNV
Germline

Chr14:58441220

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Short-rib thoracic dysplasia 13 with or without polydactyly
Inborn genetic diseases
Joubert syndrome 31
Short-rib thoracic dysplasia 13 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3386574

rs_771132137

3 SubmittersRCV001886761 RCV004611955 RCV005038443

NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met)

SNV
Germline

Chr5:37230873

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA117060306

rs_1046843624

4 SubmittersRCV001908483 RCV002482696 RCV006458745

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

Joubert syndrome
Orofaciodigital syndrome I
not specified
Primary ciliary dyskinesia
Cervical cancer

Criteria Provided
Conflicting Classifications

CA10351751

rs_758883184

4 SubmittersRCV001905376 RCV003987921 RCV004822943 RCV005923905

NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln)

SNV
Germline

Chr16:75540025

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8175993

rs_746970206

3 SubmittersRCV001882036 RCV004693886 RCV006392190

NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu)

SNV
Germline

Chr6:135428670

Conflicting classifications of pathogenicity

Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA365742154

rs_1217172210

2 SubmittersRCV001882058 RCV006691056

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

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8057586

rs_746451396

2 SubmittersRCV002010577 RCV006639379

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.986C>T (p.Thr329Met)

SNV
Germline

Chr14:58450603

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7205535

rs_747277541

2 SubmittersRCV001925243 RCV006362886

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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371691531

rs_1211156516

1 SubmittersRCV002047102

NM_015272.5(RPGRIP1L):c.1350+1G>A

SNV
Germline

Chr16:53658771

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241152412

rs_935130451

4 SubmittersRCV002017506 RCV002507780 RCV003471253 RCV006639384

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

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

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

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His)

SNV
Germline

Chr5:37187797

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238842

rs_139464953

3 SubmittersRCV002022560 RCV003479389 RCV006550839

NM_017777.4(MKS1):c.515+2T>C

SNV
Germline

Chr17:58214739

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA400327108

rs_1376664664

2 SubmittersRCV001940981 RCV006639130

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
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
CEP290-related disorder
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA385979091

rs_2039218006

5 SubmittersRCV001941065 RCV002484634 RCV004733422 RCV005406213 RCV006639131

NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter)

SNV
Germline

Chr12:88121109

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980733

rs_1269182131

3 SubmittersRCV001949664 RCV004571748 RCV006639297

NM_017777.4(MKS1):c.1301G>A (p.Trp434Ter)

SNV
Germline

Chr17:58207191

Pathogenic

Meckel-Gruber syndrome
Joubert 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7205760

rs_749475936

3 SubmittersRCV001906886 RCV003492698 RCV005432841

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_015272.5(RPGRIP1L):c.3274A>G (p.Ile1092Val)

SNV
Germline

Chr16:53636459

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA395925653

rs_1965837844

2 SubmittersRCV001940705 RCV005724651

NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val)

SNV
Germline

Chr8:93797456

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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

Meckel-Gruber syndrome
Joubert 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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

CA389878218

rs_2141025675

1 SubmittersRCV002018695

NM_017777.4(MKS1):c.1096-1G>C

SNV
Germline

Chr17:58208175

Likely pathogenic

Meckel-Gruber syndrome
Joubert 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

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385969559

rs_1592574519

1 SubmittersRCV002004621

NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)

SNV
Germline

Chr16:75545399

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

CA396806690

rs_2151702587

1 SubmittersRCV001997167

NM_001378615.1(CC2D2A):c.1018-1G>A

SNV
Germline

Chr4:15516624

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA356409801

rs_1716886666

1 SubmittersRCV001977648

NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter)

SNV
Germline

Chr12:88064064

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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
Joubert syndrome 9
Condition: not provided
Joubert syndrome 1
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA92519140

rs_1022325907

5 SubmittersRCV001919810 RCV002554223 RCV002463064 RCV003444065 RCV004796678

NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)

SNV
Germline

Chr12:88090808

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA371691352

rs_2130719312

1 SubmittersRCV002037856

NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr12:88126396

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385982955

rs_2138023519

1 SubmittersRCV002000210

NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter)

SNV
Germline

Chr12:88120231

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385980129

rs_1361189290

1 SubmittersRCV001994798

NM_015272.5(RPGRIP1L):c.1905T>G (p.Tyr635Ter)

SNV
Germline

Chr16:53652782

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395917068

rs_1353551542

3 SubmittersRCV002002417 RCV002473335 RCV006639210

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

Meckel-Gruber syndrome
Joubert 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

Meckel-Gruber syndrome
Joubert 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

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

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
Joubert syndrome 17
Orofaciodigital syndrome type 6

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

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365745520

rs_2128059170

2 SubmittersRCV002043017 RCV005834185

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
Pancreatic adenocarcinoma
Ciliopathy
Squamous cell carcinoma of the head and neck

Criteria Provided
Multiple Submitters
No Conflicts

CA8176148

rs_752141701

5 SubmittersRCV001960707 RCV004756329 RCV005924373 RCV005361866 RCV005924372

NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter)

SNV
Germline

Chr8:93795972

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert 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

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385978669

rs_1234975160

1 SubmittersRCV001942017

NM_015272.5(RPGRIP1L):c.3221-2A>G

SNV
Germline

Chr16:53636514

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8057326

rs_200448428

3 SubmittersRCV001994321 RCV005008350 RCV006639337

NM_025114.4(CEP290):c.2367+2T>C

SNV
Germline

Chr12:88111200

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385994177

rs_2137170285

1 SubmittersRCV002002548

NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter)

SNV
Germline

Chr12:88071782

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

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

Meckel-Gruber syndrome
Joubert 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

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281343801

rs_1006433886

2 SubmittersRCV002032934 RCV006638987

NM_153704.6(TMEM67):c.459T>A (p.Cys153Ter)

SNV
Germline

Chr8:93763894

Pathogenic

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385975780

rs_2136637204

3 SubmittersRCV002030172 RCV004536360 RCV006638985

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711868

rs_760653238

4 SubmittersRCV001913188 RCV004571578 RCV004728918 RCV006639077

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

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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

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

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
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

CA386006030

rs_886042467

2 SubmittersRCV001905654 RCV005006155

NM_001128178.3(NPHP1):c.143+1G>C

SNV
Germline

Chr2:110201420

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712882

rs_281865190

2 SubmittersRCV001991357 RCV006639372

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

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385993105

rs_2137167420

1 SubmittersRCV001995863

NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr)

SNV
Germline

Chr12:123699777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6861261

rs_760206821

3 SubmittersRCV001879378 RCV002490082 RCV005749883

NM_017777.4(MKS1):c.161T>A (p.Leu54Ter)

SNV
Germline

Chr17:58218649

Pathogenic

Joubert syndrome
Meckel-Gruber 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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711898

rs_746305733

3 SubmittersRCV001898905 RCV003471029 RCV006639082

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712932

rs_773525033

3 SubmittersRCV001956388 RCV005002725 RCV006639288

NM_017777.4(MKS1):c.136G>T (p.Glu46Ter)

SNV
Germline

Chr17:58218674

Pathogenic

Meckel-Gruber syndrome
Joubert 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

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
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

Meckel syndrome, type 11
Joubert syndrome 20

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_019892.6(INPP5E):c.878A>T (p.Tyr293Phe)

SNV
Germline

Chr9:136434798

Conflicting classifications of pathogenicity

Joubert syndrome
INPP5E-related disorder
MORM syndrome
Joubert syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5337045

rs_145264797

4 SubmittersRCV001948360 RCV004529057 RCV005050470 RCV005854100

NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter)

SNV
Germline

Chr12:88083218

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385993051

rs_2137156392

1 SubmittersRCV001956092

NM_025114.4(CEP290):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr12:88139555

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385989437

rs_1166981120

2 SubmittersRCV001972739 RCV006639282

NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg)

SNV
Germline

Chr8:93785265

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA371689282

rs_1455416289

2 SubmittersRCV002051151 RCV002503364

NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu)

SNV
Germline

Chr4:15502868

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber 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

Meckel-Gruber syndrome
Joubert 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.2051G>A (p.Arg684Gln)

SNV
Germline

Chr14:58461152

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7205761

rs_547990270

2 SubmittersRCV001896963 RCV005652760

NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)

SNV
Germline

Chr14:58488673

Pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8669609

rs_201362733

5 SubmittersRCV001972515 RCV003475233 RCV005016952 RCV006558133 RCV006639264

NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter)

SNV
Germline

Chr16:53645857

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395914594

rs_145807002

4 SubmittersRCV001972569 RCV004728993 RCV005016953 RCV006639269

NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087933

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert 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
Joubert syndrome and related disorders
KIF14-related disorder
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA1317197

rs_151249558

4 SubmittersRCV002005870 RCV003155454 RCV003408047 RCV005925488

NM_015272.5(RPGRIP1L):c.2874+1G>C

SNV
Germline

Chr16:53641284

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8057445

rs_753075262

3 SubmittersRCV002005878 RCV003226520 RCV006639345

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

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

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
Ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA400326772

rs_2143800757

2 SubmittersRCV001883884 RCV006695060

NM_015272.5(RPGRIP1L):c.2684-1G>A

SNV
Germline

Chr16:53641476

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
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
Senior-Loken syndrome 1
Nephronophthisis 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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385975100

rs_1440259390

3 SubmittersRCV001906982 RCV003471033 RCV006639089

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

Meckel-Gruber syndrome
Joubert 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
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281369136

rs_969617857

3 SubmittersRCV002003648 RCV005361897 RCV006639348

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
Meckel syndrome, type 5
Joubert syndrome 7
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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

CA389858966

rs_2140372917

1 SubmittersRCV002042120

NM_001382391.1(CSPP1):c.-96C>G

SNV
Germline

Chr8:67064453

Conflicting classifications of pathogenicity

Joubert syndrome 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4770057

rs_751458139

2 SubmittersRCV001881239 RCV006352525

NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)

SNV
Germline

Chr4:15540843

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863823

rs_763596840

3 SubmittersRCV001863471 RCV002272505 RCV004611894

NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala)

SNV
Germline

Chr14:58487937

Conflicting classifications of pathogenicity

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA261647670

rs_896789657

2 SubmittersRCV001895178 RCV005652745

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

Meckel-Gruber syndrome
Joubert 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/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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
Uveal melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA6860835

rs_141752910

3 SubmittersRCV002015985 RCV005008392 RCV005925567

NM_025114.4(CEP290):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr12:88129804

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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
Orofaciodigital syndrome type 6
Joubert syndrome 17
Inborn genetic diseases
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA3238130

rs_369361493

5 SubmittersRCV001896274 RCV002482724 RCV004041459 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

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

Joubert syndrome
Meckel-Gruber 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
Joubert syndrome with renal defect
Senior-Loken syndrome 1
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
Meckel syndrome, type 5
COACH syndrome 3
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
MORM syndrome
Joubert syndrome 1
Joubert syndrome 1
INPP5E-related disorder

Criteria Provided
Conflicting Classifications

CA5336762

rs_374152018

5 SubmittersRCV001957700 RCV002484684 RCV004798933 RCV004756322

NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)

SNV
Germline

Chr12:88141298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241168932

rs_997653455

4 SubmittersRCV001916478 RCV004975851 RCV005002661 RCV004733414

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
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA7206371

rs_763815640

4 SubmittersRCV001983504 RCV004784027 RCV005925509

NM_001378615.1(CC2D2A):c.4217G>A (p.Arg1406His)

SNV
Germline

Chr4:15589582

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864356

rs_369001837

2 SubmittersRCV001983569 RCV006327405

NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)

SNV
Germline

Chr6:135466282

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012857

rs_373490556

3 SubmittersRCV002041018 RCV003348766 RCV002498064

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

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

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

Criteria Provided
Conflicting Classifications

CA6712155

rs_546939043

3 SubmittersRCV002142105 RCV005002797 RCV004543835

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

Joubert syndrome
Meckel-Gruber 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
Nephronophthisis
Meckel-Gruber syndrome
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
Joubert syndrome 17
Orofaciodigital syndrome type 6

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

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
Orofaciodigital syndrome type 6
Joubert syndrome 17

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
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351895

rs_775062213

3 SubmittersRCV002086032 RCV004045760 RCV004531349

NM_024809.5(TCTN2):c.267+17A>T

SNV
Germline

Chr12:123672149

Conflicting classifications of pathogenicity

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

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
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
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
Nephronophthisis
Meckel-Gruber syndrome
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
Joubert syndrome 17
Orofaciodigital syndrome type 6

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

Criteria Provided
Conflicting Classifications

CA10352147

rs_758646234

3 SubmittersRCV002121294 RCV005042739 RCV004046541

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

Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA10351576

rs_751918276

3 SubmittersRCV002218623 RCV004045640 RCV006692799

NM_001384732.1(CPLANE1):c.5579C>T (p.Pro1860Leu)

SNV
Germline

Chr5:37180175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3238500

rs_368751039

3 SubmittersRCV002075133 RCV004753496 RCV005042722

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

Joubert syndrome 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA551687

rs_143501631

2 SubmittersRCV002174986 RCV003234166

NM_003611.3(OFD1):c.1703G>A (p.Arg568His)

SNV
Germline

ChrX:13760163

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
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

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA2863819

rs_759192059

2 SubmittersRCV002190281 RCV005406302

NM_001173990.3(TMEM216):c.34+12G>C

SNV
Germline

Chr11:61392677

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 2
Meckel syndrome, type 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

Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4807499

rs_561584664

2 SubmittersRCV002169626 RCV003348783

NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)

SNV
Germline

Chr12:88068630

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711589

rs_766355219

3 SubmittersRCV002171049 RCV002500098 RCV006251110

NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)

SNV
Germline

Chr16:75556173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Joubert syndrome
Nephronophthisis
Meckel-Gruber 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
Joubert syndrome
Condition: not provided
INPP5E-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5336669

rs_763992407

4 SubmittersRCV002238656 RCV003598066 RCV006280942 RCV004529107

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

Joubert syndrome 25
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA338038931

rs_750473230

2 SubmittersRCV002300657 RCV002252623

NM_153704.6(TMEM67):c.224-2A>T

SNV
Germline

Chr8:93755776

Pathogenic/Likely pathogenic

Condition: not provided
Lung cancer
Familial cancer of breast
Meckel-Gruber syndrome
Joubert syndrome
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA4807558

rs_768412278

3 SubmittersRCV002254123 RCV005930086 RCV005930083 RCV003774755 RCV005930085 RCV005930087 RCV005930084

NM_019892.6(INPP5E):c.1457G>A (p.Arg486His)

SNV
Germline

Chr9:136431916

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Inborn genetic diseases
INPP5E-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5336787

rs_367592401

5 SubmittersRCV002266511 RCV003101507 RCV003096042 RCV004534018 RCV004816994

NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)

SNV
Germline

Chr12:88107083

Pathogenic/Likely pathogenic

CEP290-related disorder
Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385972164

rs_2137624440

3 SubmittersRCV002266544 RCV004572105 RCV003774847

NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys)

SNV
Germline

Chr8:93781717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4807852

rs_754370463

5 SubmittersRCV002269492 RCV003774856 RCV004690278 RCV005042769 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

Pathogenic/Likely pathogenic

Joubert syndrome and related disorders
Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1827485

rs_752708835

4 SubmittersRCV002282819 RCV003586324 RCV003471306 RCV006703154

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.1480C>T (p.Gln494Ter)

SNV
Germline

Chr17:58206475

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1
Ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA400324642

rs_2509403624

3 SubmittersRCV003099156 RCV003152794 RCV006695355

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
Melanoma

Criteria Provided
Conflicting Classifications

CA551280

rs_756171105

3 SubmittersRCV002471436 RCV004823039 RCV005931974

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
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA356412285

rs_2475041330

2 SubmittersRCV002472136 RCV006460183

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_153704.6(TMEM67):c.223+1G>T

SNV
Germline

Chr8:93755138

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371685512

rs_2536753612

2 SubmittersRCV002508877 RCV006559496

NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter)

SNV
Germline

ChrX:13760561

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

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_025114.4(CEP290):c.5684T>C (p.Val1895Ala)

SNV
Germline

Chr12:88077247

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711678

rs_764240457

2 SubmittersRCV003067944 RCV005804685

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281344135

rs_898062661

4 SubmittersRCV003064336 RCV004733561 RCV006270569 RCV006641174

NM_015272.5(RPGRIP1L):c.231-2A>G

SNV
Germline

Chr16:53692366

Pathogenic

Joubert syndrome
Meckel-Gruber 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

Orofaciodigital syndrome I
Joubert syndrome
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_025114.4(CEP290):c.6750T>G (p.Phe2250Leu)

SNV
Germline

Chr12:88058916

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA385977422

rs_1478489747

2 SubmittersRCV003070814 RCV006342737

NM_024809.5(TCTN2):c.565-1G>A

SNV
Germline

Chr12:123686835

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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

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

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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385989259

rs_1292246271

1 SubmittersRCV003041166

NM_001384732.1(CPLANE1):c.2291+1G>A

SNV
Germline

Chr5:37226303

Likely pathogenic

Condition: not provided
Orofaciodigital syndrome type 6
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

CA359494459

rs_2548575756

2 SubmittersRCV003066550 RCV005034613

NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)

SNV
Germline

Chr12:88129007

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber 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

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

CA626728857

rs_1194131222

3 SubmittersRCV003086166 RCV004572762 RCV005028211

NM_017777.4(MKS1):c.859-2A>C

SNV
Germline

Chr17:58212436

Likely pathogenic

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

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

Joubert syndrome
Meckel-Gruber 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

Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA92519123

rs_1052251029

2 SubmittersRCV003084076 RCV003075334

NM_015272.5(RPGRIP1L):c.2332C>T (p.Gln778Ter)

SNV
Germline

Chr16:53645976

Pathogenic

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1827270

rs_367600757

3 SubmittersRCV003088842 RCV003465966 RCV005412478

NM_015272.5(RPGRIP1L):c.3324C>T (p.Cys1108=)

SNV
Germline

Chr16:53622327

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA495538090

rs_1402604190

2 SubmittersRCV003092631 RCV006451321

NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)

SNV
Germline

Chr4:15580120

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

CA438390588

rs_762297266

2 SubmittersRCV003086559 RCV005034686

NM_003611.3(OFD1):c.1300A>G (p.Met434Val)

SNV
Germline

ChrX:13756656

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
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

Joubert syndrome
Nephronophthisis
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395923929

rs_2150974573

2 SubmittersRCV003092388 RCV005010988

NM_003611.3(OFD1):c.579C>G (p.Phe193Leu)

SNV
Germline

ChrX:13746380

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412337123

rs_780256374

2 SubmittersRCV003093002 RCV006721710

NM_025114.4(CEP290):c.5709+2T>G

SNV
Germline

Chr12:88077220

Pathogenic/Likely pathogenic

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

CA385987155

rs_2499838601

4 SubmittersRCV002585497 RCV003465972 RCV005011021 RCV006641221

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

Joubert syndrome
Nephronophthisis
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

Joubert syndrome
Nephronophthisis
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

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

Criteria Provided
Conflicting Classifications

CA10352024

rs_377737395

2 SubmittersRCV002602865 RCV005045321

NM_003611.3(OFD1):c.675C>T (p.Thr225=)

SNV
Germline

ChrX:13746800

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10351672

rs_781665189

2 SubmittersRCV002602926 RCV003889247

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

Joubert syndrome
Nephronophthisis
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
Melanoma

Criteria Provided
Single Submitter

CA400327095

rs_1969067636

2 SubmittersRCV002634218 RCV005930653

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356420697

rs_1367275342

3 SubmittersRCV002651820 RCV005028330 RCV006262344

NM_001384732.1(CPLANE1):c.3012T>A (p.Tyr1004Ter)

SNV
Germline

Chr5:37206334

Pathogenic

Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

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
Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Joubert 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
Sarcoma
Joubert syndrome 25

Criteria Provided
Multiple Submitters
No Conflicts

CA551594

rs_781134558

3 SubmittersRCV002510438 RCV005931999 RCV006559503

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

Joubert syndrome
Meckel-Gruber 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_003611.3(OFD1):c.503A>G (p.Asn168Ser)

SNV
Germline

ChrX:13744505

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10351623

rs_780064168

2 SubmittersRCV003121837 RCV005642935

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_025114.4(CEP290):c.2597A>G (p.Asn866Ser)

SNV
Germline

Chr12:88106895

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241149017

rs_934685879

4 SubmittersRCV003121266 RCV005003016 RCV004818287 RCV006342890

NM_001384732.1(CPLANE1):c.2612G>A (p.Arg871His)

SNV
Germline

Chr5:37221458

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 17

Criteria Provided
Conflicting Classifications

CA359489101

rs_1157919882

2 SubmittersRCV003121279 RCV005356351

NM_015272.5(RPGRIP1L):c.529+1G>A

SNV
Germline

Chr16:53692065

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395924606

rs_1386334644

2 SubmittersRCV003108351 RCV006641276

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395922257

rs_1964000214

3 SubmittersRCV002576155 RCV005019233 RCV006640972

NM_015272.5(RPGRIP1L):c.2875-5C>G

SNV
Germline

Chr16:53641121

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert 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

Meckel-Gruber syndrome
Joubert 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

Meckel-Gruber syndrome
Joubert 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
Meckel-Gruber syndrome
Nephronophthisis
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

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA481055292

rs_2501849042

1 SubmittersRCV002575491

NM_001082538.3(TCTN1):c.1495-2A>G

SNV
Germline

Chr12:110647194

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386695121

rs_1475200635

1 SubmittersRCV002575567

NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)

SNV
Germline

Chr12:88130350

Pathogenic

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

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

Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
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
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385974872

rs_767250881

2 SubmittersRCV002635355 RCV006641001

NM_025114.4(CEP290):c.1189+2T>C

SNV
Germline

Chr12:88125244

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA385981020

rs_2501269442

3 SubmittersRCV002635356 RCV003465803 RCV006733360

NM_024809.5(TCTN2):c.1317C>G (p.Tyr439Ter)

SNV
Germline

Chr12:123696419

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA387144323

rs_1196281944

2 SubmittersRCV002622677 RCV006685904

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

Orofaciodigital syndrome I
Joubert syndrome
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

Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 40
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA92527555

rs_1044009143

3 SubmittersRCV002626865 RCV006698470 RCV006634960

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
Meckel-Gruber syndrome
Nephronophthisis

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
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA400325934

rs_199874059

2 SubmittersRCV002650612 RCV006641007

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977052

rs_2500817276

3 SubmittersRCV002640094 RCV004571200 RCV006641010

NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His)

SNV
Germline

Chr4:15597434

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy

Criteria Provided
Single Submitter

CA356432187

rs_1338289178

2 SubmittersRCV002706210 RCV004817100

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

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

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
Meckel-Gruber syndrome
Nephronophthisis
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
Meckel-Gruber syndrome
Nephronophthisis

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
Meckel-Gruber syndrome
Nephronophthisis

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
Meckel-Gruber syndrome
Nephronophthisis

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
Meckel-Gruber syndrome
Nephronophthisis

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
Meckel-Gruber syndrome
Nephronophthisis

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
Meckel-Gruber syndrome
Nephronophthisis

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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
Meckel-Gruber syndrome
Nephronophthisis
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
Meckel-Gruber syndrome
Nephronophthisis

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
Meckel-Gruber syndrome
Nephronophthisis

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
Condition: not provided

Criteria Provided
Single Submitter

CA356434011

rs_1721486976

2 SubmittersRCV002834944 RCV006700306

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

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
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA385991339

rs_2499911272

4 SubmittersRCV002857203 RCV003465849 RCV005608794 RCV005642860

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
Nephronophthisis
Meckel-Gruber syndrome

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_014704.4(CEP104):c.961A>G (p.Met321Val)

SNV
Germline

Chr1:3837450

Conflicting classifications of pathogenicity

Joubert syndrome 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA551762

rs_144278349

2 SubmittersRCV002885638 RCV005804620

NM_025114.4(CEP290):c.2992-2A>C

SNV
Germline

Chr12:88097001

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375564147

rs_771866083

2 SubmittersRCV002917189 RCV006687416

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

Joubert syndrome 20
Meckel syndrome, type 11

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
Joubert syndrome 7
COACH syndrome 3

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
Condition: not provided
Joubert syndrome 25
Intellectual developmental disorder, autosomal recessive 77

Criteria Provided
Multiple Submitters
No Conflicts

CA552033

rs_757772764

3 SubmittersRCV002962717 RCV005638637 RCV005028074

NM_025114.4(CEP290):c.102+2T>A

SNV
Germline

Chr12:88141204

Likely pathogenic

Joubert syndrome
Nephronophthisis
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
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA400325823

rs_1411471923

4 SubmittersRCV002962499 RCV003475458 RCV005019515 RCV006641104

NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)

SNV
Germline

Chr4:15527458

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

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_153704.6(TMEM67):c.714+4A>G

SNV
Germline

Chr8:93772655

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1116696612

rs_1813376591

2 SubmittersRCV002967863 RCV006442875

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
Orofaciodigital syndrome I
Retinitis pigmentosa 23

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

Joubert syndrome
Nephronophthisis
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

Joubert syndrome
Nephronophthisis
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

Joubert syndrome
Nephronophthisis
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

Joubert syndrome
Nephronophthisis
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

Joubert syndrome
Nephronophthisis
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

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA181306950

rs_1014876003

1 SubmittersRCV003026877

NM_024809.5(TCTN2):c.268-2A>G

SNV
Germline

Chr12:123673613

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387156659

rs_2541751074

1 SubmittersRCV003034650

NM_001378615.1(CC2D2A):c.436G>T (p.Glu146Ter)

SNV
Germline

Chr4:15502921

Pathogenic

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Conflicting Classifications

CA549892424

rs_1167453314

2 SubmittersRCV003054350 RCV005028127

NM_015272.5(RPGRIP1L):c.325G>T (p.Glu109Ter)

SNV
Germline

Chr16:53692270

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395925069

rs_2544707873

1 SubmittersRCV003059450

NM_025114.4(CEP290):c.250+1G>A

SNV
Germline

Chr12:88139494

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Leber congenital amaurosis
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6711786

rs_771864158

5 SubmittersRCV003055543 RCV003459714 RCV004733557 RCV006641150 RCV006249846

NM_024809.5(TCTN2):c.82+1G>T

SNV
Germline

Chr12:123671323

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387154949

rs_2541745804

1 SubmittersRCV003035367

NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)

SNV
Germline

Chr12:88059005

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400328229

rs_2509469673

1 SubmittersRCV003024439

NM_025114.4(CEP290):c.3574-1G>A

SNV
Germline

Chr12:88089488

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412343725

rs_983722470

1 SubmittersRCV003055752

NM_153704.6(TMEM67):c.2326T>G (p.Ser776Ala)

SNV
Germline

Chr8:93804765

Pathogenic

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Conflicting Classifications

CA10352059

rs_149790559

3 SubmittersRCV003777590 RCV004081054 RCV005045378

NM_024809.5(TCTN2):c.1007C>T (p.Ala336Val)

SNV
Germline

Chr12:123690648

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome 24
Meckel syndrome, type 8

Criteria Provided
Conflicting Classifications

CA6861063

rs_747135310

2 SubmittersRCV002986348 RCV005011165

NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)

SNV
Germline

ChrX:13767136

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

CA10352057

rs_758641332

3 SubmittersRCV003778581 RCV004229495 RCV005047382

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA241147106

rs_878896889

4 SubmittersRCV003123526 RCV003466017 RCV003778673 RCV006641289

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
Meckel syndrome, type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA371685766

rs_1014876003

4 SubmittersRCV003315267 RCV003778693 RCV005047427 RCV006454806

NM_003611.3(OFD1):c.2778G>T (p.Leu926=)

SNV
Germline

ChrX:13768074

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA515457490

rs_2518998297

3 SubmittersRCV003133109 RCV003778738 RCV004636716

NM_001378615.1(CC2D2A):c.770T>G (p.Leu257Ter)

SNV
Germline

Chr4:15514759

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356409230

rs_2474921047

2 SubmittersRCV003141218 RCV005870101

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_025114.4(CEP290):c.297+3A>G

SNV
Germline

Chr12:88139142

Likely pathogenic

Condition: not provided
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA950221553

rs_2040496521

2 SubmittersRCV003221483 RCV006561242

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

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.5824C>T (p.Gln1942Ter)

SNV
Germline

Chr12:88071812

Pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6711636

rs_763345078

4 SubmittersRCV003318184 RCV003466054 RCV005870136 RCV006561410

NM_025114.4(CEP290):c.3574-2A>G

SNV
Germline

Chr12:88089489

Likely pathogenic

Condition: not provided
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386001425

rs_2500121943

3 SubmittersRCV003327795 RCV003777371 RCV004572932

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
Condition: not provided
Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA117058157

rs_201292596

3 SubmittersRCV003406250 RCV003575089 RCV005036782

NM_014704.4(CEP104):c.895C>T (p.Arg299Ter)

SNV
Germline

Chr1:3837516

Pathogenic/Likely pathogenic

CEP104-related disorder
Intellectual developmental disorder, autosomal recessive 77
Joubert syndrome 25
Joubert syndrome 25

Criteria Provided
Multiple Submitters
No Conflicts

CA551770

rs_778850368

3 SubmittersRCV003418846 RCV005030023 RCV006561577

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348094090

rs_2467599617

3 SubmittersRCV003463185 RCV003586427 RCV005021980

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

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA348091677

rs_1210552017

2 SubmittersRCV003471545 RCV003748497

NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)

SNV
Unknown

Chr2:110125674

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385982705

rs_1411950710

3 SubmittersRCV003460391 RCV003779151 RCV006643002

NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)

SNV
Germline

Chr12:88054350

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385975425

rs_2499444300

2 SubmittersRCV003466681 RCV006561692

NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)

SNV
Germline

Chr12:88089322

Likely pathogenic

Bardet-Biedl syndrome 14
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

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
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

CA385992803

rs_2499957266

2 SubmittersRCV003466687 RCV005012982

NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)

SNV
Germline

Chr12:88111767

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385975083

rs_1231122388

3 SubmittersRCV003466697 RCV003779152 RCV006643003

NM_025114.4(CEP290):c.7209+1G>A

SNV
Germline

Chr12:88050353

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385973593

rs_1420974027

2 SubmittersRCV003466700 RCV003779153

NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)

SNV
Germline

Chr12:88089325

Likely pathogenic

Bardet-Biedl syndrome 14
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

CA386000812

rs_2500112760

2 SubmittersRCV003466716 RCV005003647

NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)

SNV
Germline

Chr12:88092724

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386004066

rs_766095901

2 SubmittersRCV003466717 RCV005216120

NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)

SNV
Germline

Chr12:88083146

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992903

rs_1159120623

2 SubmittersRCV003466718 RCV003779155

NM_025114.4(CEP290):c.6270+1G>T

SNV
Germline

Chr12:88063980

Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber 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
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

CA385971769

rs_1168542133

3 SubmittersRCV003466742 RCV003779157 RCV005003648

NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)

SNV
Germline

Chr12:88083164

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber 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
Joubert syndrome
Nephronophthisis
Meckel-Gruber 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
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

CA395329007

rs_2543369039

2 SubmittersRCV003493233 RCV005931256

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

Orofaciodigital syndrome type 6
Joubert syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA359472522

rs_2547067845

2 SubmittersRCV005036913 RCV003666341

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

Criteria Provided
Conflicting Classifications

CA2739271182

rs_2467258975

2 SubmittersRCV003747887 RCV005014875

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
Meckel syndrome, type 2
Joubert syndrome 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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371689029

rs_1813878286

1 SubmittersRCV003782186

NM_153704.6(TMEM67):c.407-1G>T

SNV
Germline

Chr8:93763841

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371686273

rs_2536784373

1 SubmittersRCV003782193

NM_015272.5(RPGRIP1L):c.3433-1G>A

SNV
Germline

Chr16:53619209

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395923717

rs_1241312606

1 SubmittersRCV003782257

NM_001378615.1(CC2D2A):c.2830-1G>A

SNV
Germline

Chr4:15559164

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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_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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA387137724

rs_2541775874

1 SubmittersRCV003795943

NM_015272.5(RPGRIP1L):c.3593G>A (p.Trp1198Ter)

SNV
Germline

Chr16:53619048

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395923381

rs_1598241401

2 SubmittersRCV003782798 RCV006643223

NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)

SNV
Germline

Chr12:88093770

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371687773

rs_2536841703

1 SubmittersRCV003782916

NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)

SNV
Germline

Chr12:88080316

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385991360

rs_2499911513

1 SubmittersRCV003785277

NM_015681.6(B9D1):c.342-1G>T

SNV
Germline

Chr17:19347332

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356413762

rs_1189294231

2 SubmittersRCV003783253 RCV005639536

NM_025114.4(CEP290):c.3309+16T>G

SNV
Germline

Chr12:88093754

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371693690

rs_2536904460

1 SubmittersRCV003781093

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

SNV
Germline

Chr8:93808957

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371699154

rs_786200867

2 SubmittersRCV003781095 RCV005860388

NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)

SNV
Germline

Chr8:93815419

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371701319

rs_2536968043

1 SubmittersRCV003781096

NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)

SNV
Germline

Chr12:88055620

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385976221

rs_2499470143

1 SubmittersRCV003783591

NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr12:88093814

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386005923

rs_2500271417

1 SubmittersRCV003783592

NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)

SNV
Germline

Chr12:88106797

Pathogenic

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

Reviewed By Expert Panel

CA385971165

rs_2500618622

4 SubmittersRCV003783593 RCV006643228 RCV006698527 RCV006733647

NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)

SNV
Germline

Chr12:88107004

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385971741

rs_2500627820

1 SubmittersRCV003783594

NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)

SNV
Germline

Chr12:88141030

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

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

Criteria Provided
Conflicting Classifications

CA2633237284

rs_2544002792

2 SubmittersRCV003789512 RCV005013185

NM_015272.5(RPGRIP1L):c.2958+1G>A

SNV
Germline

Chr16:53641032

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA371688122

rs_267607117

1 SubmittersRCV003781771

NM_017777.4(MKS1):c.240G>A (p.Trp80Ter)

SNV
Germline

Chr17:58216687

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA400327738

rs_1114167302

1 SubmittersRCV003781823

NM_015272.5(RPGRIP1L):c.2221C>T (p.Gln741Ter)

SNV
Germline

Chr16:53649047

Pathogenic

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395923925

rs_2543820049

1 SubmittersRCV003797716

NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)

SNV
Germline

Chr12:88083053

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385976715

rs_2038915208

4 SubmittersRCV003793380 RCV004573320 RCV005003714 RCV006643236

NM_025114.4(CEP290):c.1360-1G>C

SNV
Germline

Chr12:88120277

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
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

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA356417603

rs_2475019890

1 SubmittersRCV003782616

NM_015272.5(RPGRIP1L):c.2996C>G (p.Ser999Ter)

SNV
Germline

Chr16:53638374

Pathogenic

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Conflicting Classifications

CA6861312

rs_772675747

2 SubmittersRCV003780402 RCV005013179

NM_015272.5(RPGRIP1L):c.3439G>T (p.Glu1147Ter)

SNV
Germline

Chr16:53619202

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA8057284

rs_752266252

1 SubmittersRCV003788615

NM_017777.4(MKS1):c.205G>T (p.Glu69Ter)

SNV
Germline

Chr17:58216722

Pathogenic

Joubert syndrome
Meckel-Gruber 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
COACH syndrome 2
Meckel syndrome, type 6
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

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395917451

rs_2544213172

1 SubmittersRCV003788796

NM_001378615.1(CC2D2A):c.1608-2A>G

SNV
Germline

Chr4:15536918

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA356411151

rs_1419232670

2 SubmittersRCV003788933 RCV005637054

NM_153704.6(TMEM67):c.2764+2T>G

SNV
Germline

Chr8:93809889

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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

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

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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385991385

rs_2036106218

1 SubmittersRCV003787549

NM_015272.5(RPGRIP1L):c.632+1G>T

SNV
Germline

Chr16:53687862

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA395924359

rs_1376397728

1 SubmittersRCV003792747

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

SNV
Germline

Chr4:15553306

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Conflicting Classifications

CA395920796

rs_776026998

2 SubmittersRCV003792956 RCV005013188

NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)

SNV
Germline

Chr14:58458543

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

CA389869513

rs_2040059119

1 SubmittersRCV003795302

NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)

SNV
Germline

Chr8:93755850

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385995411

rs_1475658217

1 SubmittersRCV003787889

NM_017777.4(MKS1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:58219229

Pathogenic

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385979875

rs_2499619599

1 SubmittersRCV003788445

NM_015272.5(RPGRIP1L):c.1581+2T>C

SNV
Germline

Chr16:53657451

Likely pathogenic

Joubert syndrome
Meckel-Gruber 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

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

Criteria Provided
Conflicting Classifications

CA10351975

rs_190688700

2 SubmittersRCV003786619 RCV005040505

NM_024809.5(TCTN2):c.765-1G>C

SNV
Germline

Chr12:123688050

Likely pathogenic

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

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

Joubert syndrome
Meckel-Gruber 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

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
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

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

Orofacial-digital syndrome IV
Joubert syndrome 18

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385978111

rs_2500867184

2 SubmittersRCV003808415 RCV005003719

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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
Leber congenital amaurosis 10
Meckel syndrome, type 4

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
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
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
Leber congenital amaurosis 10
Meckel syndrome, type 4

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712765

rs_779409629

4 SubmittersRCV003805876 RCV005407255 RCV004733652 RCV005003718

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/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385972295

rs_1555217024

2 SubmittersRCV003801538 RCV006643253

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

Orofacial-digital syndrome IV
Joubert syndrome 18

Criteria Provided
Single Submitter

CA377706478

rs_1174698466

1 SubmittersRCV003798618

NM_015272.5(RPGRIP1L):c.776+1G>C

SNV
Germline

Chr16:53686432

Likely pathogenic

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

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

Joubert syndrome
Meckel-Gruber 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
Leber congenital amaurosis 10
Meckel syndrome, type 4

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Joubert syndrome
Nephronophthisis
Meckel-Gruber 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

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385971529

rs_373341530

3 SubmittersRCV003808930 RCV005254878 RCV006643251

NM_015272.5(RPGRIP1L):c.2565C>A (p.Tyr855Ter)

SNV
Germline

Chr16:53645743

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281339125

rs_886052096

2 SubmittersRCV003808931 RCV006643252

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

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
Joubert syndrome 28
Meckel syndrome, type 1
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
Joubert syndrome 17
Orofaciodigital syndrome type 6

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
Uterine corpus endometrial carcinoma

Criteria Provided
Single Submitter

CA4770095

rs_765909612

2 SubmittersRCV003843482 RCV005935052

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
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

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
Clear cell carcinoma of kidney

Criteria Provided
Single Submitter

CA6786930

rs_760922371

2 SubmittersRCV003984992 RCV005937371

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

Joubert syndrome 1
Joubert syndrome 1
MORM syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375571172

rs_886063713

2 SubmittersRCV003990086 RCV005051421

NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)

SNV
Germline

Chr9:136431931

Conflicting classifications of pathogenicity

Joubert syndrome 1
Retinal dystrophy
Joubert syndrome 1
MORM syndrome

Criteria Provided
Conflicting Classifications

CA5336794

rs_773590570

4 SubmittersRCV003990940 RCV004818445 RCV005040622

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
Clear cell carcinoma of kidney

Criteria Provided
Single Submitter

rs_750681131

2 SubmittersRCV004560508 RCV005939474

NM_001128178.3(NPHP1):c.1304G>A (p.Trp435Ter)

SNV
Unknown

Chr2:110146801

Likely pathogenic

Joubert syndrome with renal defect
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

rs_2467251817

2 SubmittersRCV004574367 RCV005939488

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_001378615.1(CC2D2A):c.1738C>T (p.Gln580Ter)

SNV
Germline

Chr4:15537050

Likely pathogenic

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

Criteria Provided
Single Submitter

2 SubmittersRCV004814341 RCV006689636

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004596667 RCV005006455 RCV006637121

NM_001077418.3(TMEM231):c.583A>G (p.Ile195Val)

SNV
Germline

Chr16:75542683

Conflicting classifications of pathogenicity

Inborn genetic diseases
Meckel syndrome, type 11
Joubert syndrome 20

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
Joubert syndrome
Meckel-Gruber 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_006346.4(PIBF1):c.1642G>A (p.Glu548Lys)

SNV
Germline

Chr13:72917078

Conflicting classifications of pathogenicity

PIBF1-related disorder
Joubert syndrome 33
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004755272 RCV005412681 RCV006474642

NM_001382391.1(CSPP1):c.43A>T (p.Arg15Ter)

SNV
Germline

Chr8:67074295

Pathogenic/Likely pathogenic

CSPP1-related disorder
Joubert syndrome 21

Criteria Provided
Multiple Submitters
No Conflicts

6 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_001173991.3(TMEM216):c.-69G>T

SNV
Germline

Chr11:61392563

Pathogenic

Retinitis pigmentosa 98
Condition: not provided
Joubert syndrome and related disorders
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV004776316 RCV005632746 RCV006269972 RCV006264361

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

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004821552 RCV005218359 RCV005632762

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
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009839 RCV006637186

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
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005015588 RCV006564229

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

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

Criteria Provided
Single Submitter

1 SubmittersRCV005023822

NM_017777.4(MKS1):c.191-1G>T

SNV
Germline

Chr17:58216737

Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
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

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028761

NM_001128178.3(NPHP1):c.1530-1G>A

SNV
Germline

Chr2:110131792

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028763

NM_001128178.3(NPHP1):c.1352+1G>A

SNV
Germline

Chr2:110146752

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028765

NM_001128178.3(NPHP1):c.859+1G>A

SNV
Germline

Chr2:110163047

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005015993

NM_001128178.3(NPHP1):c.771+170T>G

SNV
Germline

Chr2:110164518

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028770

NM_001128178.3(NPHP1):c.523-1G>T

SNV
Germline

Chr2:110168554

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005016003

NM_001128178.3(NPHP1):c.501A>G (p.Gln167=)

SNV
Germline

Chr2:110169827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005016005 RCV005063233

NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr2:110204938

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005016013

NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr2:110204968

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 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
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005390

NM_025114.4(CEP290):c.6960+1G>A

SNV
Germline

Chr12:88055575

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011623

NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)

SNV
Germline

Chr12:88060838

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005397

NM_025114.4(CEP290):c.6358-2A>C

SNV
Germline

Chr12:88060996

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011635

NM_025114.4(CEP290):c.6270+1G>A

SNV
Germline

Chr12:88063980

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005399

NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)

SNV
Germline

Chr12:88071424

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005403

NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)

SNV
Germline

Chr12:88071901

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005404

NM_025114.4(CEP290):c.5710-2A>G

SNV
Germline

Chr12:88071928

Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005011643 RCV005218404 RCV006637176

NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)

SNV
Germline

Chr12:88080283

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011646

NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)

SNV
Germline

Chr12:88083086

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011651

NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)

SNV
Germline

Chr12:88089472

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005424

NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)

SNV
Germline

Chr12:88093879

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011670

NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)

SNV
Germline

Chr12:88106773

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011676

NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)

SNV
Germline

Chr12:88111302

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011682

NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)

SNV
Germline

Chr12:88118483

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011688

NM_025114.4(CEP290):c.1624-1G>C

SNV
Germline

Chr12:88118571

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005441

NM_025114.4(CEP290):c.566C>G (p.Ser189Ter)

SNV
Germline

Chr12:88130371

Pathogenic

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

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

Intellectual developmental disorder, autosomal recessive 77
Joubert syndrome 25
Joubert syndrome 25
Autosomal recessive CEP104-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005028541 RCV005112710 RCV006634049

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
Joubert syndrome
Meckel-Gruber 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

Pathogenic/Likely pathogenic

Meckel syndrome, type 8
Joubert syndrome 24
Joubert syndrome 24

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005008873 RCV005860470

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.3811+17C>T

SNV
Germline

Chr5:37195841

Conflicting classifications of pathogenicity

Joubert syndrome 17
Orofaciodigital syndrome type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043354 RCV006564292

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
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005043458 RCV005223186

NM_001378615.1(CC2D2A):c.2339-1G>A

SNV
Germline

Chr4:15553157

Likely pathogenic

Meckel syndrome, type 6
COACH syndrome 2
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

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039003

NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)

SNV
Germline

Chr4:15579980

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039012

NM_001378615.1(CC2D2A):c.4315-1G>T

SNV
Germline

Chr4:15596084

Likely pathogenic

Meckel syndrome, type 6
COACH syndrome 2
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
Joubert syndrome 17

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005043331 RCV005867240

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

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

Criteria Provided
Single Submitter

1 SubmittersRCV005037496

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

SNV
Germline

Chr4:15527657

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005027212 RCV006706474

NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr4:15528623

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005027213 RCV006564281

NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr4:15537017

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005027220

NM_001378615.1(CC2D2A):c.1938G>A (p.Trp646Ter)

SNV
Germline

Chr4:15538072

Likely pathogenic

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

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
Multiple Submitters
No Conflicts

2 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.134A>G (p.Tyr45Cys)

SNV
Germline

Chr3:94003662

Conflicting classifications of pathogenicity

Joubert syndrome 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005037228 RCV005715124

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

Pathogenic/Likely pathogenic

Joubert syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

2 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
Multiple Submitters
No Conflicts

2 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

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005049286 RCV005937676

NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)

SNV
Germline

ChrX:13758353

Conflicting classifications of pathogenicity

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

Meckel syndrome, type 2
Joubert syndrome 2
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005050272 RCV006489331

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/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005215480 RCV006637328

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

Meckel syndrome, type 11
Joubert syndrome 20

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV005217041

NM_001329943.3(KIAA0586):c.411-1487A>T

SNV
Germline

Chr14:58441219

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

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

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005225019 RCV005632888 RCV005939544

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

Nephronophthisis 11
COACH syndrome 1
Joubert syndrome 6
RHYNS syndrome

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

Criteria Provided
Single Submitter

1 SubmittersRCV005607982

NM_015272.5(RPGRIP1L):c.1699+1G>A

SNV
Germline

Chr16:53656471

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005607984

NM_015272.5(RPGRIP1L):c.231-1G>T

SNV
Germline

Chr16:53692365

Pathogenic

Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005608017 RCV006568352

NM_015202.5(KATNIP):c.808+2T>C

SNV
Germline

Chr16:27677998

Likely pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

1 SubmittersRCV005636486

NM_001378615.1(CC2D2A):c.2182-2A>C

SNV
Unknown

Chr4:15550822

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005637615

NM_006346.4(PIBF1):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr13:72854100

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 33

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005639894 RCV006694560

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

SNV
Germline

Chr12:110626360

Pathogenic

Joubert syndrome 13
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005859376 RCV006569221

NM_173348.2(FAM149B1):c.279T>A (p.Tyr93Ter)

SNV
Germline

Chr10:73177972

Likely pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

1 SubmittersRCV005885366

NM_001128178.3(NPHP1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr2:110204966

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV005882429

NM_015202.5(KATNIP):c.3976-2A>G

SNV
Germline

Chr16:27769859

Likely pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

1 SubmittersRCV005884423

NM_001352754.2(ARMC9):c.1878+1G>A

SNV
Germline

Chr2:231331898

Pathogenic

Joubert syndrome 30

Criteria Provided
Single Submitter

1 SubmittersRCV005884514

NM_001077418.3(TMEM231):c.249G>A (p.Trp83Ter)

SNV
Germline

Chr16:75555864

Likely pathogenic

Joubert syndrome 20

Criteria Provided
Single Submitter

1 SubmittersRCV005886054

NM_025114.4(CEP290):c.1108C>T (p.Gln370Ter)

SNV
Germline

Chr12:88125327

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005938416

NM_001329943.3(KIAA0586):c.2836G>T (p.Glu946Ter)

SNV
Germline

Chr14:58477133

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006248985

NM_015272.5(RPGRIP1L):c.435C>G (p.Tyr145Ter)

SNV
Germline

Chr16:53692160

Pathogenic

Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV006257436

NM_001384732.1(CPLANE1):c.4390G>T (p.Glu1464Ter)

SNV
Germline

Chr5:37184879

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006457869

NM_001384732.1(CPLANE1):c.8734A>T (p.Lys2912Ter)

SNV
Germline

Chr5:37138778

Pathogenic

Joubert syndrome and related disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006457893 RCV006569974

NM_001173990.3(TMEM216):c.-69G>A

SNV
Germline

Chr11:61392563

Pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006460892

NM_019892.6(INPP5E):c.1835A>T (p.Glu612Val)

SNV
Germline

Chr9:136429775

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006486723

NM_014704.4(CEP104):c.1351C>T (p.Arg451Ter)

SNV
Germline

Chr1:3835059

Pathogenic

Joubert syndrome 25

Criteria Provided
Single Submitter

1 SubmittersRCV006487714

NM_014704.4(CEP104):c.1317+2T>G

SNV
Germline

Chr1:3836493

Likely pathogenic

Joubert syndrome 25

Criteria Provided
Single Submitter

1 SubmittersRCV006500254

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

SNV
Germline

Chr2:201629229

Pathogenic

Joubert syndrome 14

Criteria Provided
Single Submitter

1 SubmittersRCV006497345

NM_001134831.2(AHI1):c.10+1G>C

SNV
Germline

Chr6:135492227

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006514441

NM_019892.6(INPP5E):c.1516C>T (p.Gln506Ter)

SNV
Germline

Chr9:136431857

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006519393

NM_018718.3(CEP41):c.643-1G>A

SNV
Germline

Chr7:130400822

Likely pathogenic

Joubert syndrome 15

Criteria Provided
Single Submitter

1 SubmittersRCV006527314

NM_001134831.2(AHI1):c.1627-1G>C

SNV
Germline

Chr6:135447161

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006542654

NM_001134831.2(AHI1):c.2373+1G>A

SNV
Germline

Chr6:135431207

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006541672

NM_001174150.2(ARL13B):c.235C>T (p.Arg79Trp)

SNV
Germline

Chr3:94003763

Likely pathogenic

Joubert syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV006542460

NM_001384732.1(CPLANE1):c.8374-2A>G

SNV
Germline

Chr5:37148270

Likely pathogenic

Joubert syndrome 17

Criteria Provided
Single Submitter

1 SubmittersRCV006553744

NM_001082538.3(TCTN1):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr12:110626429

Likely pathogenic

Joubert syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV006554921

NM_014704.4(CEP104):c.1659+1G>A

SNV
Germline

Chr1:3833861

Likely pathogenic

Joubert syndrome 25

Criteria Provided
Single Submitter

1 SubmittersRCV006588085

NM_001134831.2(AHI1):c.189+1G>T

SNV
Germline

Chr6:135467580

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006581112

NM_001378615.1(CC2D2A):c.3496-1G>A

SNV
Germline

Chr4:15570397

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006590826

NM_003611.3(OFD1):c.2488+2T>A

SNV
Germline

ChrX:13762446

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

1 SubmittersRCV006602866

NM_001077418.3(TMEM231):c.513C>A (p.Tyr171Ter)

SNV
Germline

Chr16:75545421

Pathogenic

Joubert syndrome 20
Meckel syndrome, type 11

Criteria Provided
Single Submitter

1 SubmittersRCV006591363

NM_001329943.3(KIAA0586):c.3785T>G (p.Leu1262Ter)

SNV
Germline

Chr14:58490167

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006596006

NM_001378615.1(CC2D2A):c.1549A>T (p.Lys517Ter)

SNV
Germline

Chr4:15533275

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006602240

NM_025114.4(CEP290):c.1909+1G>A

SNV
Germline

Chr12:88115097

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV006602371

NM_024809.5(TCTN2):c.191-2A>T

SNV
Germline

Chr12:123672054

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006599289

NM_017777.4(MKS1):c.190+1G>C

SNV
Germline

Chr17:58218619

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006599508

NM_025114.4(CEP290):c.4018G>T (p.Gly1340Ter)

SNV
Germline

Chr12:88089043

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV006598551

NM_024809.5(TCTN2):c.1505+2T>C

SNV
Germline

Chr12:123697200

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006598610

NM_001378615.1(CC2D2A):c.4744G>T (p.Gly1582Ter)

SNV
Germline

Chr4:15601306

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006598626

NM_001329943.3(KIAA0586):c.341-2A>C

SNV
Germline

Chr14:58432386

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006598679

NM_001329943.3(KIAA0586):c.4375C>T (p.Gln1459Ter)

SNV
Germline

Chr14:58512573

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006598786

NM_001329943.3(KIAA0586):c.411-1462G>A

SNV
Germline

Chr14:58441244

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006598850

NM_025114.4(CEP290):c.3985G>T (p.Glu1329Ter)

SNV
Germline

Chr12:88089076

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV006595439

NM_001378615.1(CC2D2A):c.4210C>T (p.Gln1404Ter)

SNV
Germline

Chr4:15589575

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006595530

NM_001329943.3(KIAA0586):c.4108C>T (p.Gln1370Ter)

SNV
Germline

Chr14:58498900

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006595562

NM_153704.6(TMEM67):c.224-2A>G

SNV
Germline

Chr8:93755776

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006595764

NM_001329943.3(KIAA0586):c.2878C>T (p.Gln960Ter)

SNV
Germline

Chr14:58477175

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006595819

NM_001077418.3(TMEM231):c.308C>A (p.Ser103Ter)

SNV
Germline

Chr16:75555805

Pathogenic

Meckel syndrome, type 11
Joubert syndrome 20

Criteria Provided
Single Submitter

1 SubmittersRCV006603792

NM_003611.3(OFD1):c.2261-2A>C

SNV
Germline

ChrX:13761083

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

1 SubmittersRCV006591503

NM_001329943.3(KIAA0586):c.807+1G>C

SNV
Germline

Chr14:58444176

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Speech and developmental delay

Criteria Provided
Single Submitter

2 SubmittersRCV006591950 RCV006634990

NM_001378615.1(CC2D2A):c.3340A>G (p.Thr1114Ala)

SNV
Germline

Chr4:15567728

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006599999

NM_153704.6(TMEM67):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr8:93793294

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006592903

NM_015631.6(TCTN3):c.662G>A (p.Trp221Ter)

SNV
Germline

Chr10:95687321

Pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV006593052

NM_001329943.3(KIAA0586):c.3456G>A (p.Trp1152Ter)

SNV
Germline

Chr14:58488038

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006593243

NM_001329943.3(KIAA0586):c.2059+1G>A

SNV
Germline

Chr14:58461161

Likely pathogenic

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV006593331

NM_025114.4(CEP290):c.2498G>A (p.Trp833Ter)

SNV
Germline

Chr12:88107084

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV006593465

NM_001329943.3(KIAA0586):c.200-2A>T

SNV
Germline

Chr14:58429361

Likely pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006592446

NM_025114.4(CEP290):c.4141G>T (p.Glu1381Ter)

SNV
Germline

Chr12:88087833

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV006604167

NM_001329943.3(KIAA0586):c.3286G>T (p.Glu1096Ter)

SNV
Germline

Chr14:58487148

Pathogenic

Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23

Criteria Provided
Single Submitter

1 SubmittersRCV006604292

NM_153704.6(TMEM67):c.2662-1G>A

SNV
Germline

Chr8:93809784

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006592819

NM_153704.6(TMEM67):c.714+1G>C

SNV
Germline

Chr8:93772652

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006601026

NM_015631.6(TCTN3):c.577G>T (p.Glu193Ter)

SNV
Germline

Chr10:95687642

Pathogenic

Joubert syndrome 18
Orofacial-digital syndrome IV

Criteria Provided
Single Submitter

1 SubmittersRCV006600351

NM_001082538.3(TCTN1):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr12:110619871

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006600850

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

SNV
Germline

Chr8:67095733

Pathogenic

Joubert syndrome 21

Criteria Provided
Single Submitter

1 SubmittersRCV006636435

NM_015272.5(RPGRIP1L):c.1039A>T (p.Arg347Ter)

SNV
Germline

Chr16:53671574

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006643801

NM_015272.5(RPGRIP1L):c.1060G>T (p.Glu354Ter)

SNV
Germline

Chr16:53671553

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006643802

NM_015272.5(RPGRIP1L):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr16:53664951

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006643803

NM_015272.5(RPGRIP1L):c.1229T>A (p.Leu410Ter)

SNV
Germline

Chr16:53664884

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006643804

NM_015272.5(RPGRIP1L):c.1324A>T (p.Lys442Ter)

SNV
Germline

Chr16:53658798

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006643806

NM_015272.5(RPGRIP1L):c.1351G>T (p.Glu451Ter)

SNV
Germline

Chr16:53658464

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006643807

NM_015272.5(RPGRIP1L):c.1381G>T (p.Glu461Ter)

SNV
Germline

Chr16:53658434

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006643808

NM_015272.5(RPGRIP1L):c.142G>T (p.Glu48Ter)

SNV
Germline

Chr16:53696239

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006643809

NM_015272.5(RPGRIP1L):c.1960G>T (p.Glu654Ter)

SNV
Germline

Chr16:53652727

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637543

NM_015272.5(RPGRIP1L):c.2304+2T>C

SNV
Germline

Chr16:53648962

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637545

NM_015272.5(RPGRIP1L):c.3061-2A>G

SNV
Germline

Chr16:53637856

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637550

NM_015272.5(RPGRIP1L):c.3437C>A (p.Ser1146Ter)

SNV
Germline

Chr16:53619204

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637551

NM_015272.5(RPGRIP1L):c.3603T>G (p.Tyr1201Ter)

SNV
Germline

Chr16:53619038

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637554

NM_015272.5(RPGRIP1L):c.514G>T (p.Glu172Ter)

SNV
Germline

Chr16:53692081

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637556

NM_015272.5(RPGRIP1L):c.718G>T (p.Glu240Ter)

SNV
Germline

Chr16:53686491

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637558

NM_015272.5(RPGRIP1L):c.724G>T (p.Glu242Ter)

SNV
Germline

Chr16:53686485

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637559

NM_015272.5(RPGRIP1L):c.820C>T (p.Gln274Ter)

SNV
Germline

Chr16:53675079

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637561

NM_015272.5(RPGRIP1L):c.877C>T (p.Gln293Ter)

SNV
Germline

Chr16:53675022

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006637562

NM_003611.3(OFD1):c.721G>T (p.Glu241Ter)

SNV
Germline

ChrX:13746846

Pathogenic

Joubert syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV006646877

NM_015202.5(KATNIP):c.319C>T (p.Arg107Ter)

SNV
Germline

Chr16:27631073

Pathogenic

Joubert syndrome 26

Criteria Provided
Single Submitter

1 SubmittersRCV006687967

NM_001352754.2(ARMC9):c.1897A>T (p.Lys633Ter)

SNV
Germline

Chr2:231344993

Likely pathogenic

Joubert syndrome 30

Criteria Provided
Single Submitter

1 SubmittersRCV006695985

NM_001384732.1(CPLANE1):c.5051C>A (p.Ser1684Ter)

SNV
Germline

Chr5:37183130

Pathogenic

Joubert syndrome 17
Orofaciodigital syndrome type 6

Criteria Provided
Single Submitter

1 SubmittersRCV006696055

NM_173348.2(FAM149B1):c.982C>T (p.Arg328Ter)

SNV
Germline

Chr10:73228143

Likely pathogenic

Joubert syndrome 36

Criteria Provided
Single Submitter

1 SubmittersRCV006696069

NM_025114.4(CEP290):c.4705-2A>G

SNV
Germline

Chr12:88083956

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV006696092

NM_001378615.1(CC2D2A):c.4314+1G>A

SNV
Germline

Chr4:15589680

Pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV006703590

NM_001378615.1(CC2D2A):c.4532G>A (p.Trp1511Ter)

SNV
Germline

Chr4:15599564

Likely pathogenic

Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV006705082

NM_001134831.2(AHI1):c.3110-1G>C

SNV
Germline

Chr6:135358188

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV006707266

NM_001128178.3(NPHP1):c.430G>T (p.Glu144Ter)

SNV
Germline

Chr2:110169898

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV006739467