Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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_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_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg)	SNV Unknown	Chr4:15533263	Likely pathogenic	Meckel syndrome, type 6	No Assertion Criteria Provided	CA144213	rs_386833746	1 SubmittersRCV000049710
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.3145C>G (p.Arg1049Gly)	SNV Unknown	Chr4:15563485	Likely pathogenic	Meckel syndrome, type 6	No Assertion Criteria Provided	CA144221	rs_386833750	1 SubmittersRCV000049714
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.4496+2T>A	SNV Unknown	Chr4:15597467	Likely pathogenic	Meckel syndrome, type 6	No Assertion Criteria Provided	CA144238	rs_386833762	1 SubmittersRCV000049726
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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.4726G>C (p.Asp1576His)	SNV Germline	Chr4:15601288	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA16618036	rs_1064794798	2 SubmittersRCV000482125 RCV003330716
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_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_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_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_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_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_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_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_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_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_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_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_001378615.1(CC2D2A):c.4489C>T (p.Gln1497Ter)	SNV Germline	Chr4:15597458	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA356432323	rs_1553845302	1 SubmittersRCV000591452
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_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_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_001378615.1(CC2D2A):c.4497-2A>G	SNV Germline	Chr4:15599527	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA356433535	rs_1553845569	1 SubmittersRCV000622980
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)	SNV Germline	Chr4:15597452	Pathogenic	COACH syndrome 1	Criteria Provided Single Submitter	CA356432293	rs_1553845300	1 SubmittersRCV000626104
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_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_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val)	SNV Germline	Chr4:15563497	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2864086	rs_148194457	4 SubmittersRCV000727678 RCV000820282 RCV002533080
NM_001378615.1(CC2D2A):c.880+7G>A	SNV Germline	Chr4:15514876	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA549889300	rs_1445614932	2 SubmittersRCV000728120 RCV002535058
NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=)	SNV Germline	Chr4:15516717	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA438382099	rs_1289826078	2 SubmittersRCV000728142 RCV003768176
NM_001378615.1(CC2D2A):c.881-8C>T	SNV Germline	Chr4:15515860	Conflicting classifications of pathogenicity	Condition: not provided 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_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_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_001378615.1(CC2D2A):c.3545G>A (p.Trp1182Ter)	SNV Germline	Chr4:15570447	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA356421957	rs_1560188288	1 SubmittersRCV000729371
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_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_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_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_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.1696G>T (p.Glu566Ter)	SNV Germline	Chr4:15537008	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA356411356	rs_780814559	1 SubmittersRCV000734211
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001378615.1(CC2D2A):c.934G>A (p.Glu312Lys)	SNV Germline	Chr4:15515921	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter		rs_1716841949	1 SubmittersRCV004814037
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_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_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_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_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_001378615.1(CC2D2A):c.248-2A>T	SNV Unknown	Chr4:15502427	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA2863353	rs_779437509	1 SubmittersRCV001355993
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_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_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_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_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_001378615.1(CC2D2A):c.2993A>T (p.Glu998Val)	SNV Germline	Chr4:15560601	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA356414079	rs_2109061743	1 SubmittersRCV001562315
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_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_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_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_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_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_001378615.1(CC2D2A):c.1150-1G>C	SNV Germline	Chr4:15527446	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA356410099	rs_2109023958	1 SubmittersRCV001780724
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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.2164G>T (p.Glu722Ter)	SNV Germline	Chr4:15540997	Pathogenic	Meckel syndrome, type 6	Criteria Provided Single Submitter	CA356414205	rs_1340940841	1 SubmittersRCV002470550
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001378615.1(CC2D2A):c.2302C>T (p.Gln768Ter)	SNV Germline	Chr4:15550944	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA356417386	rs_2475019623	1 SubmittersRCV003141211
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_001378615.1(CC2D2A):c.1644T>G (p.Tyr548Ter)	SNV Germline	Chr4:15536956	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA356411240	rs_1718163724	1 SubmittersRCV003149509
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_001378615.1(CC2D2A):c.1360-1G>T	SNV Germline	Chr4:15528619	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA356410579	rs_1165615401	1 SubmittersRCV003489336
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001378615.1(CC2D2A):c.3182+1G>T	SNV Germline	Chr4:15563523	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814540
NM_001378615.1(CC2D2A):c.2714T>A (p.Leu905Ter)	SNV Germline	Chr4:15557392	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004816099
NM_001378615.1(CC2D2A):c.4386G>A (p.Trp1462Ter)	SNV Germline	Chr4:15596156	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004696751
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_001378615.1(CC2D2A):c.2003+1G>T	SNV Germline	Chr4:15538138	Likely pathogenic	Meckel syndrome, type 6	Criteria Provided Single Submitter			1 SubmittersRCV004800112
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_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_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_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_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_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_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_001378615.1(CC2D2A):c.3289-1G>A	SNV Germline	Chr4:15567676	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005436943
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_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_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_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_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_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_001378615.1(CC2D2A):c.4112T>C (p.Leu1371Pro)	SNV Germline	Chr4:15587862	Likely pathogenic	Meckel syndrome, type 6	Criteria Provided Single Submitter			1 SubmittersRCV006635665
NM_001378615.1(CC2D2A):c.3433C>T (p.Gln1145Ter)	SNV Germline	Chr4:15569327	Likely pathogenic	CC2D2A-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006636525
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_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_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_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg)

SNV
Unknown

Chr4:15533263

Likely pathogenic

Meckel syndrome, type 6

No Assertion Criteria Provided

CA144213

rs_386833746

1 SubmittersRCV000049710

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.3145C>G (p.Arg1049Gly)

SNV
Unknown

Chr4:15563485

Likely pathogenic

Meckel syndrome, type 6

No Assertion Criteria Provided

CA144221

rs_386833750

1 SubmittersRCV000049714

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.4496+2T>A

SNV
Unknown

Chr4:15597467

Likely pathogenic

Meckel syndrome, type 6

No Assertion Criteria Provided

CA144238

rs_386833762

1 SubmittersRCV000049726

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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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.4726G>C (p.Asp1576His)

SNV
Germline

Chr4:15601288

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16618036

rs_1064794798

2 SubmittersRCV000482125 RCV003330716

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_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_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_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_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_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_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_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_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_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_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_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_001378615.1(CC2D2A):c.4489C>T (p.Gln1497Ter)

SNV
Germline

Chr4:15597458

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA356432323

rs_1553845302

1 SubmittersRCV000591452

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_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_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_001378615.1(CC2D2A):c.4497-2A>G

SNV
Germline

Chr4:15599527

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA356433535

rs_1553845569

1 SubmittersRCV000622980

NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)

SNV
Germline

Chr4:15597452

Pathogenic

COACH syndrome 1

Criteria Provided
Single Submitter

CA356432293

rs_1553845300

1 SubmittersRCV000626104

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_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_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val)

SNV
Germline

Chr4:15563497

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2864086

rs_148194457

4 SubmittersRCV000727678 RCV000820282 RCV002533080

NM_001378615.1(CC2D2A):c.880+7G>A

SNV
Germline

Chr4:15514876

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA549889300

rs_1445614932

2 SubmittersRCV000728120 RCV002535058

NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=)

SNV
Germline

Chr4:15516717

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA438382099

rs_1289826078

2 SubmittersRCV000728142 RCV003768176

NM_001378615.1(CC2D2A):c.881-8C>T

SNV
Germline

Chr4:15515860

Conflicting classifications of pathogenicity

Condition: not provided
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_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_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_001378615.1(CC2D2A):c.3545G>A (p.Trp1182Ter)

SNV
Germline

Chr4:15570447

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA356421957

rs_1560188288

1 SubmittersRCV000729371

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_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_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_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_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.1696G>T (p.Glu566Ter)

SNV
Germline

Chr4:15537008

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA356411356

rs_780814559

1 SubmittersRCV000734211

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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001378615.1(CC2D2A):c.934G>A (p.Glu312Lys)

SNV
Germline

Chr4:15515921

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

rs_1716841949

1 SubmittersRCV004814037

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_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_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_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_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_001378615.1(CC2D2A):c.248-2A>T

SNV
Unknown

Chr4:15502427

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA2863353

rs_779437509

1 SubmittersRCV001355993

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_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_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_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_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_001378615.1(CC2D2A):c.2993A>T (p.Glu998Val)

SNV
Germline

Chr4:15560601

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA356414079

rs_2109061743

1 SubmittersRCV001562315

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_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_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_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_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_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_001378615.1(CC2D2A):c.1150-1G>C

SNV
Germline

Chr4:15527446

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA356410099

rs_2109023958

1 SubmittersRCV001780724

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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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.2164G>T (p.Glu722Ter)

SNV
Germline

Chr4:15540997

Pathogenic

Meckel syndrome, type 6

Criteria Provided
Single Submitter

CA356414205

rs_1340940841

1 SubmittersRCV002470550

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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001378615.1(CC2D2A):c.2302C>T (p.Gln768Ter)

SNV
Germline

Chr4:15550944

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA356417386

rs_2475019623

1 SubmittersRCV003141211

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_001378615.1(CC2D2A):c.1644T>G (p.Tyr548Ter)

SNV
Germline

Chr4:15536956

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA356411240

rs_1718163724

1 SubmittersRCV003149509

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_001378615.1(CC2D2A):c.1360-1G>T

SNV
Germline

Chr4:15528619

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA356410579

rs_1165615401

1 SubmittersRCV003489336

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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001378615.1(CC2D2A):c.3182+1G>T

SNV
Germline

Chr4:15563523

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814540

NM_001378615.1(CC2D2A):c.2714T>A (p.Leu905Ter)

SNV
Germline

Chr4:15557392

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004816099

NM_001378615.1(CC2D2A):c.4386G>A (p.Trp1462Ter)

SNV
Germline

Chr4:15596156

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004696751

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_001378615.1(CC2D2A):c.2003+1G>T

SNV
Germline

Chr4:15538138

Likely pathogenic

Meckel syndrome, type 6

Criteria Provided
Single Submitter

1 SubmittersRCV004800112

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_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_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_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_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_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_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_001378615.1(CC2D2A):c.3289-1G>A

SNV
Germline

Chr4:15567676

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005436943

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_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_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_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_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_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_001378615.1(CC2D2A):c.4112T>C (p.Leu1371Pro)

SNV
Germline

Chr4:15587862

Likely pathogenic

Meckel syndrome, type 6

Criteria Provided
Single Submitter

1 SubmittersRCV006635665

NM_001378615.1(CC2D2A):c.3433C>T (p.Gln1145Ter)

SNV
Germline

Chr4:15569327

Likely pathogenic

CC2D2A-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006636525

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