Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Pathogenic/Likely pathogenic	Joubert syndrome 5 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Retinitis pigmentosa Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 6 Leber congenital amaurosis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 COG7 congenital disorder of glycosylation Abnormality of the nervous system Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	31 SubmittersRCV000001396 RCV000086298 RCV000531295 RCV000114202 RCV001073790 RCV000787813 RCV000515339 RCV001261607 RCV001276487 RCV001000092 RCV001002714 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV004798711 RCV003147273
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	SNV Germline	Chr12:88141287	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA227962	rs_62635288	6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001851540 RCV001328051
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Retinitis pigmentosa Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 1 Retinal dystrophy Intellectual disability Joubert syndrome 5 CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV000988884 RCV001075828 RCV001255341 RCV001196010 RCV001731267 RCV001831503 RCV003460403
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)	SNV Germline	Chr12:88111320	Pathogenic	Leber congenital amaurosis 10 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA339890	rs_137852833	3 SubmittersRCV000001401 RCV001851541 RCV003466777
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Retinal dystrophy Blindness Nystagmus Central hypotonia Molar tooth sign on MRI Senior-Loken syndrome 6 Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related ciliopathy Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	22 SubmittersRCV000001402 RCV000001403 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV000415219 RCV000415120 RCV001002715 RCV001831504 RCV001046610 RCV003492281 RCV003466778 RCV003155008 RCV004975257
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Polycystic kidney disease Severe hydrocephalus Encephalocele Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis 10 Condition: not provided Retinal dystrophy Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003887847 RCV002496228 RCV003466779 RCV004732519
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	SNV Germline	Chr12:88077227	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 6 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA251753	rs_267606719	4 SubmittersRCV000001410 RCV000201631 RCV001261609 RCV004760315
NM_025114.4(CEP290):c.180+2T>A	SNV Germline	Chr12:88140954	Pathogenic/Likely pathogenic	Meckel syndrome, type 4	No Assertion Criteria Provided	CA144387	rs_386834150	2 SubmittersRCV000050144
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Condition: not provided Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	SNV Germline	Chr12:88139153	Pathogenic/Likely pathogenic	Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Retinal dystrophy Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA144391	rs_386834153	10 SubmittersRCV000050147 RCV001091341 RCV001274137 RCV001053674 RCV004760362 RCV004814991 RCV003466923
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	SNV Germline	Chr12:88086456	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000402012 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227967	rs_62640581	9 SubmittersRCV000086289 RCV001199210 RCV002498466 RCV001216498 RCV001831897 RCV003467011
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	SNV Germline	Chr12:88083888	Pathogenic	Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227973	rs_62640574	6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related ciliopathy Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)	SNV Germline	Chr12:88092700	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA150905	rs_372190684	4 SubmittersRCV000114194 RCV000636999 RCV001831902 RCV004542807
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	SNV Germline	Chr12:88079219	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Kidney disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA150915	rs_61941020	18 SubmittersRCV000114201 RCV000336982 RCV000352237 RCV000399104 RCV000436165 RCV000292636 RCV000407985 RCV001084256 RCV001826782 RCV002294031 RCV003888506
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis Kidney disorder	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000262275 RCV000361419 RCV000297299 RCV000321698 RCV000475858 RCV000266641 RCV002505080 RCV001274128 RCV002294036
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000293222 RCV000337209 RCV000279934 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis Kidney disorder	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	8 SubmittersRCV000124248 RCV000319253 RCV000259368 RCV000354431 RCV000472139 RCV000267777 RCV000322977 RCV001812002 RCV001276489 RCV002294038
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel syndrome, type 4 Joubert syndrome 1 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000193732 RCV000132681 RCV001110731 RCV000988879 RCV001110732 RCV000490488 RCV001109949 RCV001109950 RCV001272010 RCV001083794 RCV003888568
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	7 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV005252766
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr12:88089157	Pathogenic	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277711	rs_587783016	5 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)	SNV Germline	Chr12:88086443	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000373904 RCV000390170 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV001109956 RCV001110741 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Atypical hemolytic-uremic syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046 RCV004815226
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	SNV Germline	Chr12:88060951	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)	SNV Germline	Chr12:88118527	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233677	rs_727503854	5 SubmittersRCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=)	SNV Germline	Chr12:88071446	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA233668	rs_727503852	2 SubmittersRCV000152971 RCV001425231
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000400108 RCV000291841 RCV000344957 RCV000399776 RCV000346891 RCV001085341 RCV003888583
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV001084413 RCV001112002 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV000835406
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)	SNV Germline	Chr12:88117141	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA241104	rs_372349042	6 SubmittersRCV000175368 RCV000724312 RCV001088014 RCV001275034
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)	SNV Germline	Chr12:88107095	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA242475	rs_371159780	5 SubmittersRCV000176500 RCV003150970 RCV001074978 RCV001086387
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	SNV Germline	Chr12:88102849	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis not specified Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Retinal dystrophy Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	11 SubmittersRCV000176690 RCV000660467 RCV001113515 RCV001082205 RCV000192651 RCV001111528 RCV001111529 RCV001275025 RCV004816280 RCV001113514 RCV004528939
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	SNV Germline	Chr12:88089407	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000400157 RCV000300808 RCV000335768 RCV000348352 RCV001699223 RCV000198308 RCV001826899 RCV000401126 RCV004528944
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	SNV Germline	Chr12:88087872	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis not specified Inborn genetic diseases Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA244173	rs_184143186	8 SubmittersRCV000177662 RCV001273073 RCV003150971 RCV004975310 RCV001080328
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Retinal dystrophy Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	11 SubmittersRCV001036300 RCV000523279 RCV001826904 RCV004816287 RCV002222427 RCV001376454 RCV003468864 RCV005003531
NM_025114.4(CEP290):c.5013-7A>C	SNV Germline	Chr12:88080402	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA244955	rs_762217156	2 SubmittersRCV000177954 RCV001496142
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000364677 RCV000328615 RCV000268862 RCV001082773 RCV001832019 RCV003352794 RCV004528947 RCV000265423 RCV000320490 RCV000712032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)	SNV Germline	Chr12:88060900	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA202959	rs_191613017	5 SubmittersRCV000178636 RCV001697163 RCV000637007 RCV001272011
NM_025114.4(CEP290):c.6523-6T>C	SNV Germline	Chr12:88060026	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245845	rs_794727692	3 SubmittersRCV000178672 RCV001451553 RCV002517742
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Condition: not provided not specified CEP290-related disorder Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV001085617 RCV001112634 RCV000179537 RCV003488430 RCV004539683 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	13 SubmittersRCV000724859 RCV000179538 RCV001275047 RCV001526756 RCV005008108 RCV001082749 RCV004537490 RCV005305978
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)	SNV Germline	Chr12:88071409	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA208989	rs_780570235	3 SubmittersRCV000194670 RCV000867286 RCV004530109
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)	SNV Germline	Chr12:88092734	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA206711	rs_11836796	4 SubmittersRCV000193317 RCV001487901 RCV004530107
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)	SNV Germline	Chr12:88120196	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA206543	rs_777299440	3 SubmittersRCV000193213 RCV000870071 RCV004541238
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	SNV Germline	Chr12:88086450	Likely pathogenic	Leber congenital amaurosis 10 Bardet-Biedl syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	No Assertion Criteria Provided	CA347348	rs_797044604	1 SubmittersRCV000192446
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)	SNV Unknown	Chr12:88055597	Pathogenic	Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279539	rs_863225187	2 SubmittersRCV000201753 RCV004567442
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)	SNV Unknown	Chr12:88068585	Pathogenic	Joubert syndrome 5	Criteria Provided Single Submitter	CA277694	rs_779262951	1 SubmittersRCV000201548
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)	SNV Germline	Chr12:88071373	Pathogenic	Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis 10 Retinal dystrophy Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277735	rs_371525247	8 SubmittersRCV000201627 RCV000598256 RCV003468924 RCV001382359 RCV004798806 RCV004816348 RCV005003554
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	9 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005623073 RCV005361163
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Cystic renal dysplasia Occipital encephalocele Blindness Global developmental delay Condition: not provided Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis Inborn genetic diseases Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	12 SubmittersRCV000201672 RCV000626966 RCV000414892 RCV000493605 RCV000763311 RCV001271568 RCV002519581 RCV000806654 RCV004732783 RCV003462354 RCV004816347
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	14 SubmittersRCV000201597 RCV000521437 RCV001828040 RCV001036850 RCV003155122 RCV002250594 RCV003468926 RCV002485329 RCV004816349
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Occipital encephalocele Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Condition: not provided Leber congenital amaurosis 10 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	16 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001030764 RCV001002937 RCV000816913 RCV001529566 RCV001589085 RCV004732782 RCV003468919
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)	SNV Germline	Chr12:88111226	Conflicting classifications of pathogenicity	Joubert syndrome 5 Retinal dystrophy Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277728	rs_748034744	5 SubmittersRCV000201605 RCV001074504 RCV001471584 RCV005003555 RCV004975329
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279529	rs_863225186	5 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)	SNV Germline	Chr12:88130283	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279451	rs_863225185	4 SubmittersRCV000201653 RCV000503197 RCV002519580 RCV003159108
NM_025114.4(CEP290):c.103-1G>T	SNV Unknown	Chr12:88141034	Pathogenic	Joubert syndrome 5	Criteria Provided Single Submitter	CA279380	rs_863225188	1 SubmittersRCV000201578
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter)	SNV Germline	Chr12:88083858	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided	CA10581684	rs_878853361	1 SubmittersRCV000225618
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829
NM_025114.4(CEP290):c.297+1G>T	SNV Germline	Chr12:88139144	Pathogenic/Likely pathogenic	Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA10581686	rs_878853360	7 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003469116 RCV003155133 RCV005003571
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)	SNV Germline	Chr12:88140988	Likely pathogenic	Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA10581687	rs_878853363	2 SubmittersRCV000225409 RCV001854802
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)	SNV Germline	Chr12:88055666	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109948 RCV001109944 RCV001109946 RCV004725118
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711827	rs_371582975	4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	SNV Germline	Chr12:88107031	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712316	rs_764963626	8 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413
NM_025114.4(CEP290):c.943-4C>T	SNV Germline	Chr12:88126442	Conflicting classifications of pathogenicity	not specified CEP290-related ciliopathies Condition: not provided Inborn genetic diseases Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712651	rs_199770158	8 SubmittersRCV000238918 RCV000509374 RCV000727048 RCV002519864 RCV001083590 RCV004816452
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	SNV Germline	Chr12:88077777	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Condition: not provided Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	11 SubmittersRCV000246283 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV000297940 RCV000338834 RCV000342377 RCV001828148
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	SNV Germline	Chr12:88083853	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6711863	rs_201614215	8 SubmittersRCV000243671 RCV000270848 RCV000383188 RCV000860688 RCV000283968 RCV000328558 RCV000338967 RCV001833282 RCV001546981
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)	SNV Germline	Chr12:88118525	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6712494	rs_561018129	5 SubmittersRCV000249364 RCV001241555 RCV001195819 RCV005008220 RCV005318354
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	SNV Germline	Chr12:88118708	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712524	rs_147371999	8 SubmittersRCV000254461 RCV001086907 RCV001109701 RCV001109703 RCV001572697 RCV001113718 RCV001113719 RCV001109702
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Condition: not provided Leber congenital amaurosis 10 Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001311004 RCV001113799 RCV001275038 RCV001109774 RCV001113800 RCV001113801 RCV001113802
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)	SNV Germline	Chr12:88083848	Pathogenic	Joubert syndrome and related disorders	No Assertion Criteria Provided	CA10588971	rs_886039808	1 SubmittersRCV000256429
NM_025114.4(CEP290):c.3943G>T (p.Glu1315Ter)	SNV Germline	Chr12:88089118	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10603175	rs_886042020	1 SubmittersRCV000324284
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr12:88114536	Pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV002500965 RCV001833301 RCV003463734
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	SNV Germline	Chr12:88125343	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 4 CEP290-related disorder Inborn genetic diseases Leber congenital amaurosis not specified Condition: not provided Kidney disorder Stuve-Wiedemann syndrome 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA6712623	rs_201988582	14 SubmittersRCV000280320 RCV000342452 RCV000396707 RCV000320212 RCV000637003 RCV000374721 RCV000714822 RCV001265795 RCV001275039 RCV000354111 RCV001580478 RCV002294212 RCV003319345 RCV001589313
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002479997 RCV001380938 RCV003447521 RCV003469220 RCV002222465 RCV004816477
NM_025114.4(CEP290):c.181-2A>G	SNV Germline	Chr12:88139566	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA10604124	rs_886042359	4 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)	SNV Germline	Chr12:88071833	Pathogenic/Likely pathogenic	Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related disorder Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10604125	rs_886042360	6 SubmittersRCV001199656 RCV003469223 RCV004732816 RCV001384490 RCV000593831
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	SNV Germline	Chr12:88084814	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702 RCV001113144
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=)	SNV Germline	Chr12:88093839	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA10604281	rs_886042467	2 SubmittersRCV000316579 RCV001417740
NM_025114.4(CEP290):c.4437+1G>A	SNV Germline	Chr12:88086038	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	9 SubmittersRCV000498064 RCV000779117 RCV000473837 RCV000763313 RCV001271571
NM_025114.4(CEP290):c.6720A>G (p.Gln2240=)	SNV Germline	Chr12:88058946	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711440	rs_751895513	2 SubmittersRCV000306500 RCV001460678
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)	SNV Germline	Chr12:88106824	Pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA10606630	rs_886044332	2 SubmittersRCV000268793 RCV001859707
NM_025114.4(CEP290):c.6645+1G>A	SNV Germline	Chr12:88059897	Conflicting classifications of pathogenicity	Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711459	rs_201218801	11 SubmittersRCV002467720 RCV005355616 RCV001331377 RCV000454208 RCV001833396 RCV000497486 RCV000801486 RCV002522012 RCV003463776 RCV004537606
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)	SNV Germline	Chr12:88059985	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711473	rs_772603458	7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	SNV Germline	Chr12:88087887	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Kidney disorder Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712028	rs_181121175	8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001273074 RCV001085312 RCV002294263 RCV003888722 RCV004537751
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	SNV Germline	Chr12:88118717	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712526	rs_752942122	3 SubmittersRCV000305920 RCV000299546 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199
NM_025114.4(CEP290):c.-41C>T	SNV Germline	Chr12:88141913	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 not specified Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA10633653	rs_759820573	3 SubmittersRCV000281237 RCV000330322 RCV000372028 RCV000338378 RCV000422198 RCV000387258 RCV004537755
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	SNV Germline	Chr12:88049259	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711281	rs_765709669	3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747
NM_025114.4(CEP290):c.7209+7T>G	SNV Germline	Chr12:88050347	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711328	rs_745813087	3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 RCV001409432
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	SNV Germline	Chr12:88071872	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711648	rs_746949236	4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)	SNV Germline	Chr12:88087910	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10638682	rs_548558619	7 SubmittersRCV000303931 RCV000339034 RCV000361178 RCV000391345 RCV000398556 RCV001590929 RCV001242966 RCV001835779 RCV002487370 RCV004544542 RCV005540054
NM_025114.4(CEP290):c.3574-15T>A	SNV Germline	Chr12:88089502	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712114	rs_565414938	2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr12:88111737	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided Microcephaly Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712389	rs_375038986	9 SubmittersRCV000307295 RCV000310425 RCV000371328 RCV000365084 RCV000400672 RCV000861492 RCV001562789 RCV001252733 RCV002467728 RCV003888723 RCV004732842 RCV005003631
NM_025114.4(CEP290):c.54G>A (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA10638700	rs_886049885	2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	SNV Germline	Chr12:88050377	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711331	rs_189556433	7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721
NM_025114.4(CEP290):c.5709+12A>G	SNV Germline	Chr12:88077210	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711673	rs_371010287	2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	SNV Germline	Chr12:88087823	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712022	rs_143152287	5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001347081 RCV001273072 RCV004732840
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	SNV Germline	Chr12:88089271	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided Retinitis pigmentosa Retinal dystrophy Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712084	rs_139998038	11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001273076 RCV001555535 RCV001590930 RCV001074452 RCV002520840 RCV004544543
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	SNV Germline	Chr12:88106876	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712296	rs_776360559	4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	SNV Germline	Chr12:88115099	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712437	rs_199747962	5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002461069 RCV002467729
NM_025114.4(CEP290):c.-33G>T	SNV Germline	Chr12:88141905	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA10642542	rs_139415563	2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV001642965 RCV000402356
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)	SNV Germline	Chr12:88086400	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711985	rs_377614744	3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749
NM_025114.4(CEP290):c.1623+10G>T	SNV Germline	Chr12:88118633	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712516	rs_377529198	2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	SNV Germline	Chr12:88130558	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinitis pigmentosa Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis not specified CEP290-related disorder Retinal dystrophy CEP290-related ciliopathy	Criteria Provided Conflicting Classifications	CA6712768	rs_200063017	8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000787814 RCV000637006 RCV001275046 RCV003330639 RCV004537752 RCV003888725 RCV005355635
NM_025114.4(CEP290):c.268A>T (p.Lys90Ter)	SNV Germline	Chr12:88139174	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16042812	rs_1057517886	1 SubmittersRCV000413097
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	SNV Germline	Chr12:88131209	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712782	rs_757641323	9 SubmittersRCV000414162 RCV000552078 RCV002470852 RCV005010313 RCV000999862 RCV005540072 RCV003463818
NM_025114.4(CEP290):c.3104-2A>G	SNV Germline	Chr12:88093977	Pathogenic/Likely pathogenic	6 conditions Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6712210	rs_773386777	3 SubmittersRCV000415418 RCV003470370 RCV003766166
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)	SNV Germline	Chr12:88102888	Pathogenic/Likely pathogenic	Central hypotonia Nystagmus Molar tooth sign on MRI Blindness Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA16043473	rs_1057518822	4 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147
NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys)	SNV Germline	Chr12:88053733	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16043896	rs_375548374	1 SubmittersRCV000415801
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	SNV Germline	Chr12:88130414	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Intellectual disability CEP290-related disorder Retinal dystrophy Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712745	rs_202159966	9 SubmittersRCV000428640 RCV001109866 RCV001109867 RCV001109868 RCV001110658 RCV001275045 RCV000809280 RCV001109869 RCV001252443 RCV004530521 RCV004816652 RCV005010318
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	SNV Germline	Chr12:88059914	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711461	rs_371833544	6 SubmittersRCV001245037 RCV000765111 RCV000417476 RCV001276484 RCV003889881
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)	SNV Germline	Chr12:88068525	Conflicting classifications of pathogenicity	not specified Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711569	rs_765002773	5 SubmittersRCV000421065 RCV000726726 RCV001828431 RCV001083326 RCV004533083
NM_025114.4(CEP290):c.1360-4T>G	SNV Germline	Chr12:88120280	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712563	rs_200328638	4 SubmittersRCV001112007 RCV001112009 RCV001112452 RCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV002510886
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)	SNV Germline	Chr12:88111728	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712388	rs_752513342	3 SubmittersRCV000436721 RCV001242972 RCV004532991
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	SNV Germline	Chr12:88117128	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 10 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712482	rs_201295052	8 SubmittersRCV000733432 RCV001111899 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898
NM_025114.4(CEP290):c.4705-1G>T	SNV Germline	Chr12:88083955	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6711875	rs_777464278	5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV003470556 RCV004527588
NM_025114.4(CEP290):c.3461+1G>A	SNV Germline	Chr12:88092680	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16619601	rs_766952056	2 SubmittersRCV000485299 RCV001070331
NM_025114.4(CEP290):c.1910-11T>G	SNV Germline	Chr12:88114573	Pathogenic	Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA658656314	rs_1555220638	3 SubmittersRCV000515679 RCV004800425 RCV003470596
NM_025114.4(CEP290):c.1623+5G>A	SNV Germline	Chr12:88118638	Pathogenic	Leber congenital amaurosis	No Assertion Criteria Provided	CA385979079	rs_1555222073	1 SubmittersRCV000515712
NM_025114.4(CEP290):c.4813-2A>G	SNV Germline	Chr12:88083232	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6711850	rs_369523378	12 SubmittersRCV000687629 RCV001075395 RCV000498458 RCV001535842 RCV002248731 RCV003464071 RCV001271569 RCV002222534
NM_025114.4(CEP290):c.1066-1G>A	SNV Germline	Chr12:88125370	Pathogenic	not specified Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA241154824	rs_965522059	6 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	SNV Germline	Chr12:88114557	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977034	rs_1555220625	6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660
NM_025114.4(CEP290):c.1190-2A>G	SNV Germline	Chr12:88121168	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712608	rs_200818935	3 SubmittersRCV000523813 RCV001378303 RCV003470653
NM_025114.4(CEP290):c.6358-1G>A	SNV Germline	Chr12:88060995	Likely pathogenic	Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711506	rs_766670248	4 SubmittersRCV001276485 RCV000555880 RCV002491001 RCV003470742
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter)	SNV Germline	Chr12:88080196	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385990901	rs_1555205328	1 SubmittersRCV000525824
NM_025114.4(CEP290):c.384T>C (p.Asp128=)	SNV Germline	Chr12:88136700	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712816	rs_76267039	4 SubmittersRCV000550067 RCV001110659 RCV001110660 RCV001112627 RCV001112629 RCV001112628 RCV001821528 RCV003889921
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)	SNV Germline	Chr12:88060960	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711500	rs_184323010	5 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187 RCV004732937
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter)	SNV Germline	Chr12:88120162	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385979851	rs_1278679056	1 SubmittersRCV000540957
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)	SNV Germline	Chr12:88121157	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712602	rs_773578133	4 SubmittersRCV000526103 RCV000839270 RCV005010500 RCV004537946
NM_025114.4(CEP290):c.943-8A>T	SNV Germline	Chr12:88126446	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712652	rs_200729812	5 SubmittersRCV001083503 RCV000595738 RCV004817765
NM_025114.4(CEP290):c.180+1G>A	SNV Germline	Chr12:88140955	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712897	rs_758593134	7 SubmittersRCV001091342 RCV001199655 RCV000787558 RCV000542843 RCV002289749 RCV002497107
NM_025114.4(CEP290):c.3097A>T (p.Lys1033Ter)	SNV Germline	Chr12:88096894	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA386006815	rs_1555213161	1 SubmittersRCV000579022
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)	SNV Germline	Chr12:88118485	Pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA385978708	rs_1272411609	4 SubmittersRCV000579059 RCV002530367 RCV003459415 RCV004817775
NM_025114.4(CEP290):c.5012+2T>C	SNV Germline	Chr12:88083029	Likely pathogenic	Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385992634	rs_1369768287	6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)	SNV Germline	Chr12:88058868	Pathogenic	Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related disorder Leber congenital amaurosis 10 Kidney disorder Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711432	rs_760540562	7 SubmittersRCV000596012 RCV000636987 RCV002282253 RCV002250666 RCV002294351 RCV002506412 RCV003459464
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter)	SNV Germline	Chr12:88102918	Pathogenic	Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6712241	rs_780805963	2 SubmittersRCV000592129 RCV002531013
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)	SNV Germline	Chr12:88050366	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA6711330	rs_779550219	2 SubmittersRCV000591424 RCV001474775
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)	SNV Germline	Chr12:88089106	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6712052	rs_182851622	5 SubmittersRCV000591618 RCV001079405 RCV001273075
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)	SNV Germline	Chr12:88060988	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385978953	rs_1555197766	2 SubmittersRCV000599471 RCV003465350
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg)	SNV Germline	Chr12:88054370	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA385975540	rs_1424407266	3 SubmittersRCV000610787 RCV002528645 RCV004732977
NM_025114.4(CEP290):c.1455A>G (p.Glu485=)	SNV Germline	Chr12:88120181	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications	CA6712552	rs_755893750	3 SubmittersRCV000602144 RCV000928531 RCV005243308
NM_025114.4(CEP290):c.5710-3C>G	SNV Unknown	Chr12:88071929	Likely pathogenic	Occipital encephalocele Cystic renal dysplasia	Criteria Provided Single Submitter	CA658797938	rs_1555202126	1 SubmittersRCV000626967
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)	SNV Germline	Chr12:88120207	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385980064	rs_1170451277	5 SubmittersRCV000627200 RCV000779118 RCV000763316 RCV000814304 RCV003465363
NM_025114.4(CEP290):c.1523-1G>T	SNV Germline	Chr12:88118744	Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis	Criteria Provided Single Submitter	CA385979532	rs_1192112844	2 SubmittersRCV000636997 RCV001829789
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=)	SNV Germline	Chr12:88089467	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712109	rs_376645523	2 SubmittersRCV000733948 RCV001088081
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)	SNV Germline	Chr12:88125357	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Condition: not provided CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712624	rs_776645403	8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV004732982 RCV003459522
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=)	SNV Germline	Chr12:88087906	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6712031	rs_377227262	2 SubmittersRCV001088958 RCV000733952
NM_025114.4(CEP290):c.6646-11T>G	SNV Germline	Chr12:88059031	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA606675613	rs_1431021703	3 SubmittersRCV000658659 RCV001199653 RCV004817858
NM_025114.4(CEP290):c.6135+2T>A	SNV Germline	Chr12:88068520	Likely pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA385981825	rs_1555200648	2 SubmittersRCV000658660 RCV004817859
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala)	SNV Germline	Chr12:88141265	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA385990362	rs_1425716932	2 SubmittersRCV000658664 RCV001199652
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)	SNV Germline	Chr12:88083083	Pathogenic	Leber congenital amaurosis 10 Condition: not provided	No Assertion Criteria Provided	CA385992764	rs_1226324483	2 SubmittersRCV000678536 RCV001700446
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)	SNV Germline	Chr12:88130553	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy Leber congenital amaurosis Inborn genetic diseases Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6712767	rs_772170760	7 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002536346 RCV003465619 RCV002499260 RCV005620388
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)	SNV Germline	Chr12:88109070	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Joubert syndrome 5 Inborn genetic diseases Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712327	rs_201569048	8 SubmittersRCV001115045 RCV001829910 RCV000689950 RCV001115041 RCV001115043 RCV004026344 RCV002477547 RCV005407885 RCV001115042 RCV001115044 RCV001756171 RCV004527741
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)	SNV Germline	Chr12:88111318	Pathogenic	Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6712362	rs_753884599	6 SubmittersRCV000710064 RCV001868322 RCV003465647 RCV002493254 RCV004817947 RCV003141716
NM_025114.4(CEP290):c.4704+1G>T	SNV Germline	Chr12:88084585	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385994328	rs_1565835538	3 SubmittersRCV000722624 RCV003465653
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)	SNV Germline	Chr12:88115149	Pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Condition: not provided	Criteria Provided Single Submitter	CA385977222	rs_1203763812	2 SubmittersRCV001211577 RCV000722987
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)	SNV Germline	Chr12:88111844	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA481050498	rs_1425613490	3 SubmittersRCV000731111 RCV001473193 RCV004535841
NM_025114.4(CEP290):c.2351T>A (p.Leu784Ter)	SNV Germline	Chr12:88111218	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA385974395	rs_1206723575	1 SubmittersRCV000760734
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)	SNV Germline	Chr12:88071860	Pathogenic/Likely pathogenic	Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA6711646	rs_561598805	6 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316 RCV005004418
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)	SNV Germline	Chr12:88118660	Pathogenic/Likely pathogenic	Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA385979179	rs_1465414886	2 SubmittersRCV000785903 RCV001383424
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)	SNV Unknown	Chr12:88055665	Pathogenic	Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385976524	rs_1592726020	2 SubmittersRCV000787561 RCV003467319
NM_025114.4(CEP290):c.5587-1G>C	SNV Germline	Chr12:88077345	Pathogenic/Likely pathogenic	Leber congenital amaurosis Retinal dystrophy Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241153138	rs_968692633	10 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)	SNV Germline	Chr12:88071859	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Retinitis pigmentosa Joubert syndrome 1 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA241150716	rs_778030031	6 SubmittersRCV000815985 RCV002495153 RCV003324535 RCV000988881 RCV003467476 RCV004733054
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter)	SNV Germline	Chr12:88087788	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385998850	rs_1459653241	1 SubmittersRCV000796936
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)	SNV Germline	Chr12:88087934	Pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385999345	rs_1339975972	3 SubmittersRCV000820623 RCV003467498 RCV005004450
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)	SNV Germline	Chr12:88089259	Pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386000671	rs_1468942944	3 SubmittersRCV000823686 RCV001830822 RCV003467520
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)	SNV Germline	Chr12:88118549	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA6712499	rs_760415289	9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV003467439 RCV002487758 RCV004733051 RCV004818045
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter)	SNV Germline	Chr12:88125363	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385981555	rs_1592656929	1 SubmittersRCV000791790
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)	SNV Germline	Chr12:88136762	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Night blindness Leber congenital amaurosis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA385987715	rs_1290241933	8 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052 RCV005004443
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter)	SNV Germline	Chr12:88140970	Pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385989775	rs_1592706963	1 SubmittersRCV000823106
NM_025114.4(CEP290):c.3104-5T>G	SNV Germline	Chr12:88093980	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA693075676	rs_1302558061	2 SubmittersRCV000824247 RCV005004455
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)	SNV Germline	Chr12:88077266	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711680	rs_186330724	3 SubmittersRCV001219059 RCV000841438 RCV004538159
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)	SNV Germline	Chr12:88089085	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712051	rs_377156725	4 SubmittersRCV000827318 RCV002538257 RCV004733059 RCV005004458
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)	SNV Germline	Chr12:88083854	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Bardet-Biedl syndrome 14 Retinal dystrophy Inborn genetic diseases CEP290-related disorder Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6711864	rs_369451049	8 SubmittersRCV001000093 RCV001244303 RCV001830860 RCV003448352 RCV003889992 RCV004029250 RCV004538167 RCV005012383
NM_025114.4(CEP290):c.2456A>T (p.Gln819Leu)	SNV Germline	Chr12:88109093	Likely pathogenic	Meckel syndrome, type 4	Criteria Provided Single Submitter	CA385972643	rs_1209421607	1 SubmittersRCV001000094
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)	SNV Germline	Chr12:88080244	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA6711785	rs_375817905	6 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193 RCV005012385
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)	SNV Germline	Chr12:88111821	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis Leber congenital amaurosis 10 Condition: not provided CEP290-related disorder CEP290-related ciliopathy	Criteria Provided Conflicting Classifications	CA6712401	rs_200454865	8 SubmittersRCV000860704 RCV001111804 RCV001111805 RCV001111806 RCV001111807 RCV001275033 RCV001112276 RCV001546810 RCV004538174 RCV005359613
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)	SNV Germline	Chr12:88077862	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711720	rs_370464321	4 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057 RCV005306188
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)	SNV Germline	Chr12:88080281	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 CEP290-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6711789	rs_757738553	5 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110313 RCV001110312 RCV001110314 RCV005012389 RCV004538287 RCV004797884
NM_025114.4(CEP290):c.3498T>G (p.Val1166=)	SNV Germline	Chr12:88090803	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA6712129	rs_750099379	3 SubmittersRCV000865008 RCV004733070 RCV005012386
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)	SNV Germline	Chr12:88102956	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related disorder Genetic developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA6712248	rs_546463648	5 SubmittersRCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV001113520 RCV004540210 RCV005626246
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)	SNV Germline	Chr12:88106854	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Kidney disorder Leber congenital amaurosis Retinal dystrophy CEP290-related disorder CEP290-related ciliopathy	Criteria Provided Conflicting Classifications	CA6712294	rs_147362398	7 SubmittersRCV000864755 RCV001111620 RCV001111621 RCV001111622 RCV001111624 RCV001111623 RCV002294390 RCV001275029 RCV003889993 RCV004538226 RCV005359621
NM_025114.4(CEP290):c.1057C>T (p.Leu353=)	SNV Germline	Chr12:88126324	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA241155305	rs_1036812157	2 SubmittersRCV000872788 RCV005012390
NM_025114.4(CEP290):c.6358-5C>T	SNV Germline	Chr12:88060999	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711508	rs_372986399	4 SubmittersRCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001114082 RCV000915534 RCV001272014 RCV004533513
NM_025114.4(CEP290):c.6271-8T>G	SNV Germline	Chr12:88062786	Pathogenic/Likely pathogenic	Joubert syndrome 1 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 See cases	Criteria Provided Multiple Submitters No Conflicts	CA241147940	rs_1039146791	4 SubmittersRCV000988880 RCV001869357 RCV003467551 RCV002252287
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)	SNV Unknown	Chr12:88084586	Likely pathogenic	Joubert syndrome 1	Criteria Provided Single Submitter	CA385994330	rs_1592836704	1 SubmittersRCV000988882
NM_025114.4(CEP290):c.1522+1G>C	SNV Unknown	Chr12:88120113	Pathogenic	Joubert syndrome 1	Criteria Provided Single Submitter	CA385979621	rs_1592639588	1 SubmittersRCV000988889
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)	SNV Unknown	Chr12:88129007	Pathogenic	Joubert syndrome 1	Criteria Provided Single Submitter	CA385983941	rs_1592668925	1 SubmittersRCV000988891
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)	SNV Germline	Chr12:88139522	Conflicting classifications of pathogenicity	Joubert syndrome 1 Retinal dystrophy Meckel-Gruber syndrome Joubert syndrome Nephronophthisis not specified Retinitis pigmentosa Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712876	rs_779010679	6 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)	SNV Unknown	Chr12:88141294	Likely pathogenic	Joubert syndrome 1	Criteria Provided Single Submitter	CA385990528	rs_1434632102	1 SubmittersRCV000988893
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)	SNV Germline	Chr12:88053733	Pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711362	rs_375548374	6 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027 RCV004818114 RCV005012429
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)	SNV Germline	Chr12:88130309	Pathogenic/Likely pathogenic	Condition: not provided Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712724	rs_763473957	3 SubmittersRCV000994957 RCV002286795 RCV004569838
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)	SNV Germline	Chr12:88071848	Pathogenic	Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Retinal dystrophy Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385984785	rs_1592784618	5 SubmittersRCV001002935 RCV001860525 RCV003890157 RCV004004474 RCV003467562
NM_025114.4(CEP290):c.4029+1G>A	SNV Germline	Chr12:88089031	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA385999953	rs_2036808766	2 SubmittersRCV001199654 RCV002275200
NM_025114.4(CEP290):c.102+1G>T	SNV Germline	Chr12:88141205	Pathogenic	Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA385990067	rs_2040637111	2 SubmittersRCV001091343 RCV001199657
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)	SNV Germline	Chr12:88129717	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385984278	rs_45502896	4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577
NM_025114.4(CEP290):c.297+1G>A	SNV Germline	Chr12:88139144	Pathogenic	Leber congenital amaurosis 10 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA385988563	rs_878853360	3 SubmittersRCV001029956 RCV001380322 RCV002479228
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)	SNV Germline	Chr12:88055700	Pathogenic/Likely pathogenic	Retinal dystrophy Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385976661	rs_2033943937	3 SubmittersRCV001074527 RCV001063917 RCV005012517
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)	SNV Germline	Chr12:88059909	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385977934	rs_2034330893	1 SubmittersRCV001053194
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)	SNV Germline	Chr12:88089468	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA386001282	rs_372640024	1 SubmittersRCV001045344
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)	SNV Germline	Chr12:88106887	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Abnormality of prenatal development or birth	Criteria Provided Multiple Submitters No Conflicts	CA241149016	rs_903257336	2 SubmittersRCV001046023 RCV001814260
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)	SNV Germline	Chr12:88111263	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis 10 Joubert syndrome 5 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712356	rs_199583200	5 SubmittersRCV001057249 RCV001111727 RCV001111724 RCV001111726 RCV001562596 RCV001111723 RCV001111725 RCV001832517 RCV004536115
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)	SNV Germline	Chr12:88118567	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385979035	rs_1186821575	3 SubmittersRCV001047416 RCV001832446 RCV003467750
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)	SNV Germline	Chr12:88136717	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 CEP290-related disorder Bardet-Biedl syndrome 14 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6712821	rs_770126103	7 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003228800 RCV003462577 RCV005253701 RCV005532835
NM_025114.4(CEP290):c.4030-2A>G	SNV Germline	Chr12:88087946	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385999375	rs_2036722229	1 SubmittersRCV001041071
NM_025114.4(CEP290):c.1712-2A>T	SNV Germline	Chr12:88117147	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA6712483	rs_764551108	1 SubmittersRCV001035038
NM_025114.4(CEP290):c.1624-5T>G	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712506	rs_142742071	3 SubmittersRCV001064972 RCV001827420 RCV002468139
NM_025114.4(CEP290):c.1189+1G>A	SNV Germline	Chr12:88125245	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385981026	rs_2039659434	4 SubmittersRCV001063723 RCV001274129 RCV003467821 RCV001814265
NM_025114.4(CEP290):c.3573+2T>C	SNV Germline	Chr12:88090726	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA386001535	rs_1219277452	1 SubmittersRCV001061596
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)	SNV Germline	Chr12:88055644	Pathogenic/Likely pathogenic	Retinal dystrophy Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385976380	rs_2033937635	3 SubmittersRCV001074469 RCV003768995 RCV003469275
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)	SNV Germline	Chr12:88079202	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6711749	rs_748471942	6 SubmittersRCV001074245 RCV001759855 RCV001234472 RCV003469274 RCV004733151
NM_025114.4(CEP290):c.4490C>A (p.Ser1497Ter)	SNV Germline	Chr12:88084800	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA385995563	rs_1345994179	1 SubmittersRCV001074470
NM_025114.4(CEP290):c.3220G>T (p.Glu1074Ter)	SNV Germline	Chr12:88093859	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA386006124	rs_2037229663	1 SubmittersRCV001074054
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)	SNV Germline	Chr12:88109135	Pathogenic/Likely pathogenic	Retinal dystrophy Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Leber congenital amaurosis Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6712335	rs_762633090	6 SubmittersRCV001075311 RCV001243657 RCV003331040 RCV001836118 RCV003469278 RCV005540273
NM_025114.4(CEP290):c.6012-12T>A	SNV Germline	Chr12:88068657	Pathogenic	Retinal dystrophy Bardet-Biedl syndrome 14 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA6711593	rs_752197734	4 SubmittersRCV001073239 RCV003469270 RCV003768988 RCV005253708
NM_025114.4(CEP290):c.5586+1G>C	SNV Germline	Chr12:88077696	Likely pathogenic	Retinal dystrophy Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385987997	rs_2035880971	2 SubmittersRCV001075437 RCV001862612
NM_025114.4(CEP290):c.4813-4A>G	SNV Germline	Chr12:88083234	Conflicting classifications of pathogenicity	Retinal dystrophy Joubert syndrome Nephronophthisis Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA916083326	rs_2036324053	3 SubmittersRCV001075281 RCV002069583 RCV004733153
NM_025114.4(CEP290):c.2818-2A>G	SNV Germline	Chr12:88103013	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA385970131	rs_2038012556	1 SubmittersRCV001074050
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)	SNV Germline	Chr12:88058869	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977236	rs_2034232539	4 SubmittersRCV001090821 RCV003769016 RCV003469280 RCV005012543
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)	SNV Germline	Chr12:88068626	Pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241149784	rs_750073051	4 SubmittersRCV001090822 RCV002554821 RCV003469281 RCV005012544
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)	SNV Germline	Chr12:88118673	Pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712521	rs_763559949	3 SubmittersRCV001091340 RCV002555950 RCV003469282
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)	SNV Germline	Chr12:88141306	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6712933	rs_368984997	6 SubmittersRCV001091344 RCV002482162 RCV001862693 RCV004536141 RCV004813738
NM_025114.4(CEP290):c.1A>G (p.Met1Val)	SNV Germline	Chr12:88141307	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA385990599	rs_2040644756	3 SubmittersRCV001091345 RCV002555951 RCV004813739
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)	SNV Germline	Chr12:88071822	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711638	rs_752046733	2 SubmittersRCV001112803 RCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001462557
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)	SNV Germline	Chr12:88077324	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA241153115	rs_777353443	2 SubmittersRCV001110127 RCV001110129 RCV001110125 RCV001110126 RCV001110128 RCV002067798
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)	SNV Germline	Chr12:88089344	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA481077013	rs_1159465602	2 SubmittersRCV001113346 RCV001114718 RCV001113347 RCV001114719 RCV001114717 RCV001400067
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)	SNV Germline	Chr12:88129875	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712702	rs_200587974	6 SubmittersRCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV004538332 RCV003227912
NM_025114.4(CEP290):c.54G>C (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA481055452	rs_886049885	3 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187 RCV005606766
NM_025114.4(CEP290):c.6012-2A>G	SNV Germline	Chr12:88068647	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241149791	rs_555755221	4 SubmittersRCV001198220 RCV001828613 RCV001211579 RCV003469314
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	SNV Germline	Chr12:88089250	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Retinal dystrophy Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386000654	rs_1412133967	10 SubmittersRCV001222226 RCV001529282 RCV001828771 RCV004813908 RCV004546619 RCV002283532
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)	SNV Germline	Chr12:88090781	Pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Single Submitter	CA386001942	rs_2036974151	1 SubmittersRCV001204615
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)	SNV Germline	Chr12:88117104	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385978257	rs_867094910	2 SubmittersRCV001203138 RCV004570424
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)	SNV Germline	Chr12:88136746	Pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385987649	rs_2040373653	1 SubmittersRCV001202458
NM_025114.4(CEP290):c.5709+1G>A	SNV Germline	Chr12:88077221	Pathogenic	Leber congenital amaurosis Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Single Submitter	CA6711675	rs_759850328	2 SubmittersRCV001833851 RCV001211207
NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)	SNV Germline	Chr12:88090787	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA386001998	rs_2036975289	1 SubmittersRCV001232419
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)	SNV Germline	Chr12:88093839	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386006028	rs_886042467	2 SubmittersRCV001237935 RCV002504334
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)	SNV Germline	Chr12:88120246	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385980173	rs_1437841365	2 SubmittersRCV001230980 RCV003469413
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)	SNV Germline	Chr12:88054359	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711377	rs_200969981	10 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004577955 RCV004538510 RCV004609704 RCV004813996
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)	SNV Germline	Chr12:88071420	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711621	rs_562477272	6 SubmittersRCV001247983 RCV001760286 RCV002499432 RCV001835317 RCV003887972 RCV004538524
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)	SNV Germline	Chr12:88121121	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6712594	rs_189280108	6 SubmittersRCV001244829 RCV002504354 RCV001835216 RCV004538514 RCV004978200 RCV004720814
NM_025114.4(CEP290):c.942+1G>C	SNV Germline	Chr12:88128945	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385983525	rs_2039897317	2 SubmittersRCV001230885 RCV003469412
NM_025114.4(CEP290):c.251-2A>G	SNV Germline	Chr12:88139193	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA241166997	rs_951979448	1 SubmittersRCV001237836
NM_025114.4(CEP290):c.6135+1G>A	SNV Germline	Chr12:88068521	Pathogenic	Joubert syndrome 5 Intellectual disability	Criteria Provided Single Submitter	CA385981830	rs_2035114607	1 SubmittersRCV001262195 RCV001255342
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)	SNV Germline	Chr12:88079127	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Severe hydrocephalus Encephalocele Polycystic kidney disease Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711738	rs_774410421	4 SubmittersRCV001382992 RCV001257363 RCV005012700 RCV004570649
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)	SNV Germline	Chr12:88083945	Pathogenic/Likely pathogenic	Meckel syndrome, type 6 Joubert syndrome 5	Criteria Provided Single Submitter	CA385994093	rs_1292516576	1 SubmittersRCV001261608 RCV001261602
NM_025114.4(CEP290):c.6271-1G>A	SNV Germline	Chr12:88062779	Likely pathogenic	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Single Submitter		rs_2034579709	1 SubmittersRCV005012702
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)	SNV Germline	Chr12:88089214	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386000583	rs_2036824785	5 SubmittersRCV001390760 RCV004796396 RCV005005128 RCV003120515 RCV003469489
NM_025114.4(CEP290):c.373G>T (p.Glu125Ter)	SNV Germline	Chr12:88136711	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA385987450	rs_2040371663	1 SubmittersRCV001267299
NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter)	SNV Germline	Chr12:88071896	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA385985144	rs_2035405646	1 SubmittersRCV001268159
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)	SNV Germline	Chr12:88117110	Conflicting classifications of pathogenicity	Leber congenital amaurosis Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA385978293	rs_1459958084	3 SubmittersRCV001279555 RCV002493497 RCV005318701
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)	SNV Germline	Chr12:88083945	Pathogenic/Likely pathogenic	Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA385994080	rs_1292516576	4 SubmittersRCV001283851 RCV002541764 RCV003135916 RCV003989669
NM_025114.4(CEP290):c.2217+2T>C	SNV Germline	Chr12:88111692	Likely pathogenic	Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385974764	rs_2038702746	2 SubmittersRCV001330036 RCV001863212
NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter)	SNV Germline	Chr12:88089127	Pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Single Submitter	CA6712056	rs_774705706	1 SubmittersRCV001387506
NM_025114.4(CEP290):c.3310-5C>A	SNV Germline	Chr12:88092837	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2499221894	rs_2137345196	2 SubmittersRCV001361154 RCV001762620
NM_025114.4(CEP290):c.1523-412C>T	SNV Germline	Chr12:88119155	Likely pathogenic	Leber congenital amaurosis 10	Criteria Provided Single Submitter	CA606449808	rs_1381940328	1 SubmittersRCV001376368
NM_025114.4(CEP290):c.6357+1G>A	SNV Germline	Chr12:88062691	Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA385979054	rs_1196938557	2 SubmittersRCV001378757 RCV005005228
NM_025114.4(CEP290):c.5586+1G>T	SNV Germline	Chr12:88077696	Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA385987996	rs_2035880971	2 SubmittersRCV001377792 RCV005005225
NM_025114.4(CEP290):c.3309+2T>C	SNV Germline	Chr12:88093768	Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241168580	rs_1007902545	2 SubmittersRCV001379336 RCV003469638
NM_025114.4(CEP290):c.943-1G>C	SNV Germline	Chr12:88126439	Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Single Submitter	CA385983224	rs_2138025029	1 SubmittersRCV001378660
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	SNV Germline	Chr12:88049300	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385972484	rs_1374014119	3 SubmittersRCV001384498 RCV005614538 RCV002493927
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)	SNV Germline	Chr12:88049337	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711302	rs_775189201	2 SubmittersRCV001383766 RCV003469701
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)	SNV Germline	Chr12:88054380	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385975607	rs_1414041522	1 SubmittersRCV001390986
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)	SNV Germline	Chr12:88071364	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA6711612	rs_767426153	3 SubmittersRCV001388961 RCV003469749 RCV005005926
NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter)	SNV Germline	Chr12:88080211	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385990960	rs_1367899236	1 SubmittersRCV001384921
NM_025114.4(CEP290):c.4195-1G>T	SNV Germline	Chr12:88086499	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385997799	rs_751807811	1 SubmittersRCV001388146
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)	SNV Germline	Chr12:88087884	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Condition: not provided CEP290-related disorder Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA385999234	rs_779645669	5 SubmittersRCV001381486 RCV002476720 RCV003156344 RCV004733280 RCV001836389
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)	SNV Germline	Chr12:88089136	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386000397	rs_2036816455	2 SubmittersRCV001382323 RCV003469675
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)	SNV Germline	Chr12:88089139	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA386000405	rs_1417251616	3 SubmittersRCV001385692 RCV004699357 RCV004531195
NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter)	SNV Germline	Chr12:88092808	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA386004646	rs_2137344539	1 SubmittersRCV001388128
NM_025114.4(CEP290):c.3310-2A>G	SNV Germline	Chr12:88092834	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA386004787	rs_2137345150	1 SubmittersRCV001383617
NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter)	SNV Germline	Chr12:88096969	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA386007140	rs_2037477197	1 SubmittersRCV001382107
NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter)	SNV Germline	Chr12:88111315	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385974674	rs_2137711696	1 SubmittersRCV001382457
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)	SNV Germline	Chr12:88114485	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385976857	rs_2038919221	3 SubmittersRCV001383423 RCV003469695 RCV005057356
NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter)	SNV Germline	Chr12:88125270	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385981142	rs_2138000998	1 SubmittersRCV001389479
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr12:88126321	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385982588	rs_2138021345	4 SubmittersRCV001386120 RCV005005236 RCV005409820 RCV003469719
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)	SNV Germline	Chr12:88130405	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385986468	rs_2039993548	2 SubmittersRCV001387371 RCV003469732
NM_025114.4(CEP290):c.355C>T (p.Gln119Ter)	SNV Germline	Chr12:88136729	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385987566	rs_2138215835	1 SubmittersRCV001384356
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)	SNV Germline	Chr12:88136777	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712832	rs_752144368	2 SubmittersRCV001386072 RCV003469718
NM_025114.4(CEP290):c.4195-9T>C	SNV Germline	Chr12:88086507	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications	CA6712001	rs_546957016	2 SubmittersRCV001398908 RCV002272470
NM_025114.4(CEP290):c.3429G>A (p.Lys1143=)	SNV Germline	Chr12:88092713	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712143	rs_769362204	2 SubmittersRCV001418489 RCV005419123
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=)	SNV Germline	Chr12:88068537	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711572	rs_766265410	3 SubmittersRCV001424404 RCV001820118 RCV004733299
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)	SNV Germline	Chr12:88068590	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA481071572	rs_764861728	2 SubmittersRCV001429116 RCV001839044
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)	SNV Germline	Chr12:88080279	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711788	rs_754184488	3 SubmittersRCV001462219 RCV004528501 RCV005005248
NM_025114.4(CEP290):c.853-9G>A	SNV Germline	Chr12:88129044	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712684	rs_974759127	3 SubmittersRCV001458619 RCV001820151 RCV004733331
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)	SNV Unknown	Chr12:88096906	Likely pathogenic	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6	Criteria Provided Single Submitter	CA386006874	rs_2137423759	1 SubmittersRCV001535856
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)	SNV Germline	Chr12:88129834	Pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA385985714	rs_2138086844	5 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860 RCV004782757
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)	SNV Germline	Chr12:88084608	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711892	rs_371157150	6 SubmittersRCV001652983 RCV002266008 RCV001827558 RCV002539602 RCV004528526 RCV005308494
NM_025114.4(CEP290):c.4705-2A>C	SNV Germline	Chr12:88083956	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 10 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA385994211	rs_2137170380	2 SubmittersRCV001724852 RCV002227536 RCV001859437
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)	SNV Germline	Chr12:88093912	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386006370	rs_1267970567	3 SubmittersRCV001780761 RCV002544259 RCV003470909
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)	SNV Germline	Chr12:88050365	Pathogenic/Likely pathogenic	CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385973620	rs_1478582091	4 SubmittersRCV001825112 RCV002503334 RCV003470936 RCV002545200
NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter)	SNV Germline	Chr12:88096978	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA386007180	rs_2037478393	1 SubmittersRCV001917076
NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter)	SNV Germline	Chr12:88049360	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385973003	rs_2136547054	1 SubmittersRCV001997322
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter)	SNV Germline	Chr12:88058897	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385977365	rs_2136704614	1 SubmittersRCV001962676
NM_025114.4(CEP290):c.2483+1G>A	SNV Germline	Chr12:88109065	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385972465	rs_2137661795	2 SubmittersRCV002015044 RCV005002763
NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter)	SNV Germline	Chr12:88121038	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385980471	rs_2137917114	1 SubmittersRCV001902894
NM_025114.4(CEP290):c.102+2T>G	SNV Germline	Chr12:88141204	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712915	rs_763226787	5 SubmittersRCV002027685 RCV003471280 RCV002498073 RCV003226528
NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter)	SNV Germline	Chr12:88055695	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385976647	rs_2136656497	1 SubmittersRCV001945145
NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter)	SNV Germline	Chr12:88117059	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385978073	rs_2137836218	1 SubmittersRCV001999893
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)	SNV Germline	Chr12:88058963	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977637	rs_1375836634	2 SubmittersRCV001941643 RCV003471149
NM_025114.4(CEP290):c.1359+1G>A	SNV Germline	Chr12:88120996	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241152412	rs_935130451	3 SubmittersRCV002017506 RCV002507780 RCV003471253
NM_025114.4(CEP290):c.251-1G>C	SNV Germline	Chr12:88139192	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385988942	rs_2138259162	1 SubmittersRCV002017305
NM_025114.4(CEP290):c.361G>T (p.Glu121Ter)	SNV Germline	Chr12:88136723	Pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Single Submitter	CA385987523	rs_2138215714	1 SubmittersRCV001961872
NM_025114.4(CEP290):c.1623+2C>A	SNV Germline	Chr12:88118641	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 CEP290-related disorder Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA385979091	rs_2039218006	4 SubmittersRCV001941065 RCV002484634 RCV004733422 RCV005406213
NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter)	SNV Germline	Chr12:88121109	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385980733	rs_1269182131	2 SubmittersRCV001949664 RCV004571748
NM_025114.4(CEP290):c.3573+1G>T	SNV Germline	Chr12:88090727	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA386001540	rs_1339320666	1 SubmittersRCV001958976
NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter)	SNV Germline	Chr12:88107025	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385971794	rs_2038335853	1 SubmittersRCV001896199
NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter)	SNV Germline	Chr12:88102927	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385969559	rs_1592574519	1 SubmittersRCV002004621
NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter)	SNV Germline	Chr12:88064064	Pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Single Submitter	CA385979815	rs_2136814350	1 SubmittersRCV001894546
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)	SNV Germline	Chr12:88090808	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386002148	rs_2036977924	2 SubmittersRCV002035322 RCV003471118
NM_025114.4(CEP290):c.3573+1G>C	SNV Germline	Chr12:88090727	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA386001541	rs_1339320666	1 SubmittersRCV002006928
NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)	SNV Germline	Chr12:88126396	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385982955	rs_2138023519	1 SubmittersRCV002000210
NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter)	SNV Germline	Chr12:88120231	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385980129	rs_1361189290	1 SubmittersRCV001994798
NM_025114.4(CEP290):c.730G>T (p.Glu244Ter)	SNV Germline	Chr12:88129816	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385985602	rs_2138086329	1 SubmittersRCV001993385
NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter)	SNV Germline	Chr12:88060913	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385978669	rs_1234975160	1 SubmittersRCV001942017
NM_025114.4(CEP290):c.2367+2T>C	SNV Germline	Chr12:88111200	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385974282	rs_2137707354	1 SubmittersRCV001994352
NM_025114.4(CEP290):c.2368-1G>T	SNV Germline	Chr12:88109182	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385973476	rs_2137665576	1 SubmittersRCV001929413
NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter)	SNV Germline	Chr12:88083954	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385994177	rs_2137170285	1 SubmittersRCV002002548
NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter)	SNV Germline	Chr12:88071782	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385984307	rs_2035393800	1 SubmittersRCV001939333
NM_025114.4(CEP290):c.942+1G>A	SNV Germline	Chr12:88128945	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385983528	rs_2039897317	1 SubmittersRCV002016508
NM_025114.4(CEP290):c.1065+1G>C	SNV Germline	Chr12:88126315	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385982538	rs_2138021203	1 SubmittersRCV002020667
NM_025114.4(CEP290):c.6961-1G>T	SNV Germline	Chr12:88054414	Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA385975780	rs_2136637204	2 SubmittersRCV002030172 RCV004536360
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter)	SNV Germline	Chr12:88083896	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6711868	rs_760653238	3 SubmittersRCV001913188 RCV004571578 RCV004728918
NM_025114.4(CEP290):c.661G>T (p.Glu221Ter)	SNV Germline	Chr12:88130276	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385986113	rs_2138093974	1 SubmittersRCV001936519
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)	SNV Germline	Chr12:88102942	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385969667	rs_1180594304	2 SubmittersRCV001951020 RCV003471170
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)	SNV Germline	Chr12:88093839	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA386006030	rs_886042467	2 SubmittersRCV001905654 RCV005006155
NM_025114.4(CEP290):c.181-1G>A	SNV Germline	Chr12:88139565	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA6712882	rs_281865190	1 SubmittersRCV001991357
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)	SNV Germline	Chr12:88071343	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385983463	rs_2035358840	2 SubmittersRCV001942295 RCV003471165
NM_025114.4(CEP290):c.4812+1G>A	SNV Germline	Chr12:88083846	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385993105	rs_2137167420	1 SubmittersRCV001995863
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)	SNV Germline	Chr12:88084639	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711898	rs_746305733	2 SubmittersRCV001898905 RCV003471029
NM_025114.4(CEP290):c.3G>A (p.Met1Ile)	SNV Germline	Chr12:88141305	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA6712932	rs_773525033	2 SubmittersRCV001956388 RCV005002725
NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter)	SNV Germline	Chr12:88083218	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385993051	rs_2137156392	1 SubmittersRCV001956092
NM_025114.4(CEP290):c.190C>T (p.Gln64Ter)	SNV Germline	Chr12:88139555	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385989437	rs_1166981120	1 SubmittersRCV001972739
NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter)	SNV Germline	Chr12:88077299	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385987708	rs_2137050478	1 SubmittersRCV001969840
NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter)	SNV Germline	Chr12:88087933	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385999344	rs_2137251821	1 SubmittersRCV001953690
NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter)	SNV Germline	Chr12:88083098	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385992801	rs_2137152484	1 SubmittersRCV001963182
NM_025114.4(CEP290):c.4194+2T>A	SNV Germline	Chr12:88087778	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385998799	rs_2137247685	1 SubmittersRCV002006563
NM_025114.4(CEP290):c.181-9A>G	SNV Germline	Chr12:88139573	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related disorder Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712885	rs_745494615	3 SubmittersRCV002008872 RCV004538715 RCV005008362
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)	SNV Germline	Chr12:88111771	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385975100	rs_1440259390	2 SubmittersRCV001906982 RCV003471033
NM_025114.4(CEP290):c.742C>T (p.Gln248Ter)	SNV Germline	Chr12:88129804	Pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Single Submitter	CA385985522	rs_2138085855	1 SubmittersRCV001929705
NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter)	SNV Germline	Chr12:88089331	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA386000827	rs_2137277291	1 SubmittersRCV001914219
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)	SNV Germline	Chr12:88084613	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA385994556	rs_2137182509	3 SubmittersRCV001979757 RCV005006295 RCV005607036
NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter)	SNV Germline	Chr12:88093874	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA386006186	rs_2137365958	1 SubmittersRCV001909306
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)	SNV Germline	Chr12:88141298	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome CEP290-related disorder Inborn genetic diseases Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA241168932	rs_997653455	4 SubmittersRCV001916478 RCV004733414 RCV004975851 RCV005002661
NM_025114.4(CEP290):c.943-1G>A	SNV Germline	Chr12:88126439	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385983225	rs_2138025029	1 SubmittersRCV001980914
NM_025114.4(CEP290):c.3378G>A (p.Val1126=)	SNV Germline	Chr12:88092764	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712155	rs_546939043	3 SubmittersRCV002142105 RCV004543835 RCV005002797
NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)	SNV Germline	Chr12:88083123	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA481075641	rs_1330745435	2 SubmittersRCV002135039 RCV003889054
NM_025114.4(CEP290):c.298-16G>A	SNV Germline	Chr12:88136802	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712840	rs_531851010	2 SubmittersRCV002078512 RCV005002795
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=)	SNV Germline	Chr12:88058892	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA481059257	rs_2034234195	2 SubmittersRCV002197703 RCV003889030
NM_025114.4(CEP290):c.297+2T>C	SNV Germline	Chr12:88139143	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA385988554	rs_2040496802	1 SubmittersRCV002211238
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)	SNV Germline	Chr12:88077701	Pathogenic/Likely pathogenic	CEP290-related disorder Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385988018	rs_2137056192	2 SubmittersRCV002223093 RCV003089158
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)	SNV Germline	Chr12:88107083	Pathogenic/Likely pathogenic	CEP290-related disorder Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385972164	rs_2137624440	3 SubmittersRCV002266544 RCV003774847 RCV004572105
NM_025114.4(CEP290):c.2992-2A>T	SNV Germline	Chr12:88097001	Likely pathogenic	CEP290-related disorder	Criteria Provided Single Submitter	CA386007294	rs_2037480406	1 SubmittersRCV002308521
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)	SNV Germline	Chr12:88107076	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385972115	rs_2038340977	2 SubmittersRCV002470298 RCV004571174
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)	SNV Germline	Chr12:88059903	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Condition: not provided Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711460	rs_768065164	4 SubmittersRCV003062529 RCV003138466 RCV003465923 RCV005010896
NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)	SNV Germline	Chr12:88139531	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385989259	rs_1292246271	1 SubmittersRCV003041166
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)	SNV Germline	Chr12:88129007	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385983943	rs_1592668925	1 SubmittersRCV003051065
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)	SNV Germline	Chr12:88071352	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA241150553	rs_1014354752	2 SubmittersRCV002588063 RCV004536624
NM_025114.4(CEP290):c.5709+2T>G	SNV Germline	Chr12:88077220	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385987155	rs_2499838601	3 SubmittersRCV002585497 RCV005011021 RCV003465972
NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)	SNV Germline	Chr12:88077699	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385988009	rs_2499853126	1 SubmittersRCV002591603
NM_025114.4(CEP290):c.2217+1G>T	SNV Germline	Chr12:88111693	Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385974765	rs_2500759351	1 SubmittersRCV002602816
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)	SNV Germline	Chr12:88118513	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385978842	rs_1475139450	2 SubmittersRCV002591896 RCV004572789
NM_025114.4(CEP290):c.853-2A>T	SNV Germline	Chr12:88129037	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385984096	rs_2039902653	1 SubmittersRCV003106392
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)	SNV Germline	Chr12:88086120	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711958	rs_756607245	2 SubmittersRCV002588833 RCV004534128
NM_025114.4(CEP290):c.180G>A (p.Lys60=)	SNV Germline	Chr12:88140956	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA481055292	rs_2501849042	1 SubmittersRCV002575491
NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)	SNV Germline	Chr12:88130350	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385986339	rs_2039989513	1 SubmittersRCV002577501
NM_025114.4(CEP290):c.3461+9A>G	SNV Germline	Chr12:88092672	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA606456149	rs_1301659851	2 SubmittersRCV002601022 RCV005008649
NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)	SNV Germline	Chr12:88111720	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385974872	rs_767250881	1 SubmittersRCV002635355
NM_025114.4(CEP290):c.1189+2T>C	SNV Germline	Chr12:88125244	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385981020	rs_2501269442	2 SubmittersRCV002635356 RCV003465803
NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)	SNV Germline	Chr12:88083110	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA6711828	rs_773390201	1 SubmittersRCV002618037
NM_025114.4(CEP290):c.1910-1G>A	SNV Germline	Chr12:88114563	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977052	rs_2500817276	2 SubmittersRCV002640094 RCV004571200
NM_025114.4(CEP290):c.853-2A>G	SNV Germline	Chr12:88129037	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385984098	rs_2039902653	2 SubmittersRCV002694938 RCV003465814
NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)	SNV Germline	Chr12:88117041	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385977982	rs_2500865968	1 SubmittersRCV002736604
NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)	SNV Germline	Chr12:88120135	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA6712550	rs_780896294	1 SubmittersRCV002790672
NM_025114.4(CEP290):c.5856-2A>C	SNV Germline	Chr12:88071451	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385984234	rs_2499731924	1 SubmittersRCV002814606
NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)	SNV Germline	Chr12:88131203	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385986666	rs_2501544530	1 SubmittersRCV002824443
NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)	SNV Germline	Chr12:88111762	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385975060	rs_2500763272	1 SubmittersRCV002801954
NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)	SNV Germline	Chr12:88087905	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385999278	rs_2500065308	1 SubmittersRCV002819910
NM_025114.4(CEP290):c.441+1G>C	SNV Germline	Chr12:88136642	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385987066	rs_1184012636	2 SubmittersRCV002815556 RCV003464604
NM_025114.4(CEP290):c.6011+2T>G	SNV Germline	Chr12:88071292	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385983058	rs_2499726960	2 SubmittersRCV002801728 RCV003465837
NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)	SNV Germline	Chr12:88077726	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385988116	rs_2035884532	1 SubmittersRCV002819748
NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter)	SNV Germline	Chr12:88090730	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA386001554	rs_2500156012	1 SubmittersRCV002802230
NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)	SNV Germline	Chr12:88087917	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385999302	rs_2500066079	1 SubmittersRCV002846596
NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)	SNV Germline	Chr12:88080271	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385991178	rs_2499910206	1 SubmittersRCV002862014
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)	SNV Germline	Chr12:88129729	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385984355	rs_1592671313	1 SubmittersRCV002816434
NM_025114.4(CEP290):c.4194+1G>C	SNV Germline	Chr12:88087779	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385998806	rs_1306782857	1 SubmittersRCV002857633
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)	SNV Germline	Chr12:88092691	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA386003759	rs_2500228774	1 SubmittersRCV002889123
NM_025114.4(CEP290):c.442-1G>A	SNV Germline	Chr12:88131219	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385986700	rs_2040047006	2 SubmittersRCV002880883 RCV005002894
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)	SNV Germline	Chr12:88080310	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA385991339	rs_2499911272	3 SubmittersRCV002857203 RCV003465849 RCV005608794
NM_025114.4(CEP290):c.1065+1G>A	SNV Germline	Chr12:88126315	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA385982540	rs_2138021203	1 SubmittersRCV002867991
NM_025114.4(CEP290):c.2992-2A>C	SNV Germline	Chr12:88097001	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA386007296	rs_2037480406	1 SubmittersRCV002912647
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)	SNV Germline	Chr12:88089340	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386000850	rs_2500113822	2 SubmittersRCV002885198 RCV004571420
NM_025114.4(CEP290):c.2587-1G>T	SNV Germline	Chr12:88106906	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385971663	rs_1247861318	2 SubmittersRCV002894942 RCV003465862
NM_025114.4(CEP290):c.102+2T>A	SNV Germline	Chr12:88141204	Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385990065	rs_763226787	2 SubmittersRCV002952940 RCV003465871
NM_025114.4(CEP290):c.6270+2T>C	SNV Germline	Chr12:88063979	Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385979504	rs_2499616926	2 SubmittersRCV003010340 RCV003465892
NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter)	SNV Germline	Chr12:88106755	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385970987	rs_2500616179	1 SubmittersRCV003016859
NM_025114.4(CEP290):c.1711+2T>A	SNV Germline	Chr12:88118481	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385978693	rs_2500935910	1 SubmittersRCV003018225
NM_025114.4(CEP290):c.6818+2T>C	SNV Germline	Chr12:88058846	Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385977135	rs_2499527666	1 SubmittersRCV003021281
NM_025114.4(CEP290):c.5227-2A>G	SNV Germline	Chr12:88079231	Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA6711755	rs_367676646	1 SubmittersRCV003009980
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)	SNV Germline	Chr12:88055698	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related ciliopathy Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385976655	rs_2499472817	3 SubmittersRCV003043024 RCV003250703 RCV003465904
NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)	SNV Germline	Chr12:88087850	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385999153	rs_2500060132	1 SubmittersRCV003023897
NM_025114.4(CEP290):c.250+1G>A	SNV Germline	Chr12:88139494	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385988999	rs_2501800454	1 SubmittersRCV003055318
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)	SNV Germline	Chr12:88080261	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711786	rs_771864158	3 SubmittersRCV003055543 RCV004733557 RCV003459714
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)	SNV Germline	Chr12:88059005	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385977837	rs_2034243912	1 SubmittersRCV003039923
NM_025114.4(CEP290):c.3574-1G>A	SNV Germline	Chr12:88089488	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386001420	rs_2500121878	2 SubmittersRCV003059556 RCV004572641
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)	SNV Germline	Chr12:88053700	Pathogenic/Likely pathogenic	CEP290-related disorder Bardet-Biedl syndrome 14 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA241147106	rs_878896889	3 SubmittersRCV003123526 RCV003466017 RCV003778673
NM_025114.4(CEP290):c.4636C>T (p.Gln1546Ter)	SNV Germline	Chr12:88084654	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA385994854	rs_2499986572	1 SubmittersRCV003141352
NM_025114.4(CEP290):c.297+3A>G	SNV Germline	Chr12:88139142	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA950221553	rs_2040496521	1 SubmittersRCV003221483
NM_025114.4(CEP290):c.2992-1G>T	SNV Germline	Chr12:88097000	Likely pathogenic	CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386007291	rs_2037480294	2 SubmittersRCV003226856 RCV005003038
NM_025114.4(CEP290):c.5726T>G (p.Leu1909Ter)	SNV Unknown	Chr12:88071910	Pathogenic	CEP290-related disorder	Criteria Provided Single Submitter	CA385985247	rs_2499745673	1 SubmittersRCV003228862
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)	SNV Germline	Chr12:88071812	Pathogenic	Bardet-Biedl syndrome 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6711636	rs_763345078	2 SubmittersRCV003466054 RCV003318184
NM_025114.4(CEP290):c.3574-2A>G	SNV Germline	Chr12:88089489	Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA386001425	rs_2500121943	3 SubmittersRCV003327795 RCV004572932 RCV003777371
NM_025114.4(CEP290):c.1894A>G (p.Lys632Glu)	SNV Germline	Chr12:88115113	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA385977098	rs_1213124542	3 SubmittersRCV003398206 RCV003889301 RCV004733618
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)	SNV Germline	Chr12:88126342	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385982705	rs_1411950710	2 SubmittersRCV003779151 RCV003460391
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)	SNV Unknown	Chr12:88064099	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385979990	rs_2499620387	1 SubmittersRCV003466678
NM_025114.4(CEP290):c.3310-1G>A	SNV Germline	Chr12:88092833	Pathogenic	Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6712163	rs_369935020	2 SubmittersRCV003466679 RCV004818353
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)	SNV Unknown	Chr12:88054350	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385975425	rs_2499444300	1 SubmittersRCV003466681
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)	SNV Germline	Chr12:88089322	Likely pathogenic	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712094	rs_758878983	2 SubmittersRCV003466685 RCV005012981
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)	SNV Germline	Chr12:88083100	Likely pathogenic	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385992803	rs_2499957266	2 SubmittersRCV003466687 RCV005012982
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)	SNV Unknown	Chr12:88064025	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385979648	rs_2499618420	1 SubmittersRCV003466689
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)	SNV Unknown	Chr12:88125264	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385981111	rs_2501271113	1 SubmittersRCV003466691
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)	SNV Germline	Chr12:88111767	Pathogenic	Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385975083	rs_1231122388	2 SubmittersRCV003466697 RCV003779152
NM_025114.4(CEP290):c.5012+2T>G	SNV Unknown	Chr12:88083029	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385992633	rs_1369768287	1 SubmittersRCV003466698
NM_025114.4(CEP290):c.7209+1G>A	SNV Germline	Chr12:88050353	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385973593	rs_1420974027	2 SubmittersRCV003779153 RCV003466700
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)	SNV Unknown	Chr12:88083032	Pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385992644	rs_1219855028	1 SubmittersRCV003466705
NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)	SNV Unknown	Chr12:88062724	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385979184	rs_2499596186	1 SubmittersRCV003466706
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)	SNV Unknown	Chr12:88071842	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385984750	rs_2499742387	1 SubmittersRCV003466709
NM_025114.4(CEP290):c.2586+1G>A	SNV Unknown	Chr12:88106995	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385971700	rs_2500627365	1 SubmittersRCV003466710
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)	SNV Unknown	Chr12:88049368	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385973088	rs_2136547201	1 SubmittersRCV003466711
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)	SNV Unknown	Chr12:88109071	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA6712328	rs_758193337	1 SubmittersRCV003466715
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)	SNV Germline	Chr12:88089325	Likely pathogenic	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386000812	rs_2500112760	2 SubmittersRCV003466716 RCV005003647
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)	SNV Germline	Chr12:88092724	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386004066	rs_766095901	2 SubmittersRCV005216120 RCV003466717
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)	SNV Germline	Chr12:88083146	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385992903	rs_1159120623	2 SubmittersRCV003779155 RCV003466718
NM_025114.4(CEP290):c.2218-2A>G	SNV Unknown	Chr12:88111353	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385974761	rs_2500746572	1 SubmittersRCV003466719
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)	SNV Unknown	Chr12:88093879	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA386006206	rs_757210438	1 SubmittersRCV003466723
NM_025114.4(CEP290):c.1824+1G>A	SNV Germline	Chr12:88117032	Likely pathogenic	Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Single Submitter	CA385977943	rs_2500865783	2 SubmittersRCV003466727 RCV004733620
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)	SNV Unknown	Chr12:88071914	Pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385985279	rs_2499745769	1 SubmittersRCV003466728
NM_025114.4(CEP290):c.2992-1G>A	SNV Unknown	Chr12:88097000	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA386007288	rs_2037480294	1 SubmittersRCV003466733
NM_025114.4(CEP290):c.1909+1G>T	SNV Germline	Chr12:88115097	Likely pathogenic	Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Single Submitter	CA241149826	rs_1006843385	2 SubmittersRCV003466735 RCV004818354
NM_025114.4(CEP290):c.2217+2T>G	SNV Unknown	Chr12:88111692	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385974762	rs_2038702746	1 SubmittersRCV003466736
NM_025114.4(CEP290):c.6270+1G>T	SNV Germline	Chr12:88063980	Likely pathogenic	Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385979508	rs_1237799214	2 SubmittersRCV003466737 RCV003779156
NM_025114.4(CEP290):c.5855+2T>G	SNV Unknown	Chr12:88071779	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385984280	rs_2499739840	1 SubmittersRCV003466739
NM_025114.4(CEP290):c.5012+1G>A	SNV Unknown	Chr12:88083030	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385992638	rs_2499954741	1 SubmittersRCV003466741
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)	SNV Germline	Chr12:88107013	Pathogenic	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385971769	rs_1168542133	3 SubmittersRCV003466742 RCV005003648 RCV003779157
NM_025114.4(CEP290):c.5855+1G>A	SNV Unknown	Chr12:88071780	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385984293	rs_1476248618	1 SubmittersRCV003466744
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)	SNV Germline	Chr12:88083164	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA241156795	rs_868148490	2 SubmittersRCV003466746 RCV003779158
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)	SNV Unknown	Chr12:88093892	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA386006270	rs_1397256061	1 SubmittersRCV003466748
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)	SNV Unknown	Chr12:88120141	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385979748	rs_2501038652	1 SubmittersRCV003466749
NM_025114.4(CEP290):c.2991+1G>A	SNV Unknown	Chr12:88102837	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385968871	rs_2500522460	1 SubmittersRCV003466754
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)	SNV Germline	Chr12:88089073	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA386000189	rs_1285349002	2 SubmittersRCV003466759 RCV003779160
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)	SNV Unknown	Chr12:88118537	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385978956	rs_77818876	1 SubmittersRCV003466760
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)	SNV Unknown	Chr12:88130353	Likely pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385986347	rs_2501502246	1 SubmittersRCV003466762
NM_025114.4(CEP290):c.180+1G>T	SNV Unknown	Chr12:88140955	Pathogenic	Bardet-Biedl syndrome 14	Criteria Provided Single Submitter	CA385989722	rs_758593134	1 SubmittersRCV003466768
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)	SNV Germline	Chr12:88120170	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome not specified	Criteria Provided Conflicting Classifications	CA385979889	rs_1340148485	2 SubmittersRCV003797790 RCV005407252
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)	SNV Germline	Chr12:88093770	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA481077248	rs_2500269301	1 SubmittersRCV003782818
NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)	SNV Germline	Chr12:88080316	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385991360	rs_2499911513	1 SubmittersRCV003785277
NM_025114.4(CEP290):c.3309+16T>G	SNV Germline	Chr12:88093754	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA606675736	rs_1400483491	2 SubmittersRCV003781036 RCV005013180
NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)	SNV Germline	Chr12:88055620	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385976221	rs_2499470143	1 SubmittersRCV003783591
NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)	SNV Germline	Chr12:88093814	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA386005923	rs_2500271417	1 SubmittersRCV003783592
NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)	SNV Germline	Chr12:88106797	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385971165	rs_2500618622	1 SubmittersRCV003783593
NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)	SNV Germline	Chr12:88107004	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385971741	rs_2500627820	1 SubmittersRCV003783594
NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)	SNV Germline	Chr12:88141030	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA241168621	rs_868347260	1 SubmittersRCV003783595
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)	SNV Germline	Chr12:88083053	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385992693	rs_2499955544	2 SubmittersRCV003793188 RCV004573319
NM_025114.4(CEP290):c.2052+1G>A	SNV Germline	Chr12:88114419	Likely pathogenic	Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385976715	rs_2038915208	3 SubmittersRCV005003714 RCV003793380 RCV004573320
NM_025114.4(CEP290):c.1360-1G>C	SNV Germline	Chr12:88120277	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385980285	rs_2501054131	2 SubmittersRCV003779392 RCV005003707
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)	SNV Germline	Chr12:88111311	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385974663	rs_2500744133	2 SubmittersRCV003780009 RCV004796843
NM_025114.4(CEP290):c.669+15A>G	SNV Germline	Chr12:88130253	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA606454199	rs_1165909730	2 SubmittersRCV003789091 RCV005003709
NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)	SNV Germline	Chr12:88080322	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385991385	rs_2036106218	1 SubmittersRCV003787549
NM_025114.4(CEP290):c.298-15G>A	SNV Germline	Chr12:88136801	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712837	rs_756197493	2 SubmittersRCV003787834 RCV005013178
NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)	SNV Germline	Chr12:88084729	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385995411	rs_1475658217	1 SubmittersRCV003787889
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)	SNV Germline	Chr12:88064076	Pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA385979875	rs_2499619599	1 SubmittersRCV003788445
NM_025114.4(CEP290):c.6522+18G>C	SNV Germline	Chr12:88060812	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA606675628	rs_1359522025	2 SubmittersRCV003786965 RCV005003710
NM_025114.4(CEP290):c.3103+1G>A	SNV Germline	Chr12:88096887	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Single Submitter	CA386006783	rs_1592550848	1 SubmittersRCV003785026
NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)	SNV Germline	Chr12:88083127	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385992862	rs_2499958316	1 SubmittersRCV003807799
NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)	SNV Germline	Chr12:88084837	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385995666	rs_2499991573	1 SubmittersRCV003808159
NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)	SNV Germline	Chr12:88118681	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385979284	rs_1325063481	1 SubmittersRCV003806084
NM_025114.4(CEP290):c.2587-1G>A	SNV Germline	Chr12:88106906	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385971666	rs_1247861318	1 SubmittersRCV003808275
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)	SNV Germline	Chr12:88117067	Pathogenic/Likely pathogenic	Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385978111	rs_2500867184	2 SubmittersRCV005003719 RCV003808415
NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter)	SNV Germline	Chr12:88109094	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385972651	rs_2137662565	1 SubmittersRCV003791552
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)	SNV Germline	Chr12:88089484	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA386001394	rs_2500121621	2 SubmittersRCV003791609 RCV005013192
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)	SNV Germline	Chr12:88111717	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA385974857	rs_1438792443	2 SubmittersRCV003805604 RCV005013194
NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter)	SNV Germline	Chr12:88080187	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385990863	rs_2499907395	1 SubmittersRCV003805799
NM_025114.4(CEP290):c.516+1G>A	SNV Germline	Chr12:88130544	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome CEP290-related disorder Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA6712765	rs_779409629	4 SubmittersRCV003805876 RCV004733652 RCV005003718 RCV005407255
NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)	SNV Germline	Chr12:88068581	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385982153	rs_2499676199	1 SubmittersRCV003805944
NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)	SNV Germline	Chr12:88077867	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385988981	rs_2499860456	1 SubmittersRCV003803713
NM_025114.4(CEP290):c.2817+1G>T	SNV Germline	Chr12:88106674	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385970740	rs_2500612408	1 SubmittersRCV003803920
NM_025114.4(CEP290):c.2484-2A>C	SNV Germline	Chr12:88107100	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385972295	rs_1555217024	1 SubmittersRCV003801538
NM_025114.4(CEP290):c.441+1G>A	SNV Germline	Chr12:88136642	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA385987068	rs_1184012636	2 SubmittersRCV003799241 RCV005003716
NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)	SNV Germline	Chr12:88084714	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385995265	rs_1337146202	1 SubmittersRCV003799416
NM_025114.4(CEP290):c.351T>C (p.Ile117=)	SNV Germline	Chr12:88136733	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Retinal dystrophy Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6712824	rs_771707256	3 SubmittersRCV003797651 RCV003889340 RCV005610612
NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter)	SNV Germline	Chr12:88121124	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385980788	rs_2501098066	1 SubmittersRCV003802842
NM_025114.4(CEP290):c.297+1G>C	SNV Germline	Chr12:88139144	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385988566	rs_878853360	2 SubmittersRCV003803606 RCV004573329
NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)	SNV Germline	Chr12:88086092	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385996334	rs_2500009261	1 SubmittersRCV003809160
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)	SNV Germline	Chr12:88071882	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA385985036	rs_2499744201	3 SubmittersRCV003801218 RCV005013196 RCV005616803
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)	SNV Germline	Chr12:88125272	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385981152	rs_2501272074	2 SubmittersRCV003796931 RCV004573326
NM_025114.4(CEP290):c.2052+4A>T	SNV Germline	Chr12:88114416	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA2575243400	rs_2500813056	1 SubmittersRCV003808673
NM_025114.4(CEP290):c.4704+1G>A	SNV Germline	Chr12:88084585	Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385994326	rs_1565835538	1 SubmittersRCV003808696
NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)	SNV Germline	Chr12:88106877	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA385971529	rs_373341530	2 SubmittersRCV003808930 RCV005254878
NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)	SNV Germline	Chr12:88083089	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385992779	rs_2499956762	1 SubmittersRCV003807043
NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)	SNV Germline	Chr12:88106746	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385970942	rs_2500615773	1 SubmittersRCV003804787

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

SNV
Germline

Chr12:88077263

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

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

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

SNV
Germline

Chr12:88141287

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227962

rs_62635288

6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001851540 RCV001328051

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

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

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

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

SNV
Germline

Chr12:88111320

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339890

rs_137852833

3 SubmittersRCV000001401 RCV001851541 RCV003466777

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

SNV
Germline

Chr12:88083936

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

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

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

SNV
Germline

Chr12:88130324

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003887847 RCV002496228 RCV003466779 RCV004732519

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

SNV
Germline

Chr12:88077227

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 6
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA251753

rs_267606719

4 SubmittersRCV000001410 RCV000201631 RCV001261609 RCV004760315

NM_025114.4(CEP290):c.180+2T>A

SNV
Germline

Chr12:88140954

Pathogenic/Likely pathogenic

Meckel syndrome, type 4

No Assertion Criteria Provided

CA144387

rs_386834150

2 SubmittersRCV000050144

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

SNV
Germline

Chr12:88114488

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641

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

SNV
Germline

Chr12:88139153

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144391

rs_386834153

10 SubmittersRCV000050147 RCV001091341 RCV001274137 RCV001053674 RCV004760362 RCV004814991 RCV003466923

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

SNV
Germline

Chr12:88086456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000402012 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298

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

SNV
Germline

Chr12:88089247

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227967

rs_62640581

9 SubmittersRCV000086289 RCV001199210 RCV002498466 RCV001216498 RCV001831897 RCV003467011

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

SNV
Germline

Chr12:88083888

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227973

rs_62640574

6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008

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

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009

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

SNV
Germline

Chr12:88092700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150905

rs_372190684

4 SubmittersRCV000114194 RCV000636999 RCV001831902 RCV004542807

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

SNV
Germline

Chr12:88079219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150915

rs_61941020

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

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000262275 RCV000361419 RCV000297299 RCV000321698 RCV000475858 RCV000266641 RCV002505080 RCV001274128 RCV002294036

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

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000293222 RCV000337209 RCV000279934 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037

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

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

8 SubmittersRCV000124248 RCV000319253 RCV000259368 RCV000354431 RCV000472139 RCV000267777 RCV000322977 RCV001812002 RCV001276489 RCV002294038

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

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

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

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

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

7 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV005252766

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

SNV
Germline

Chr12:88089157

Pathogenic

Leber congenital amaurosis 10
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277711

rs_587783016

5 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203

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

SNV
Germline

Chr12:88086443

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

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

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

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV001109956 RCV001110741 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882

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

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

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

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

SNV
Germline

Chr12:88060951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445

NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)

SNV
Germline

Chr12:88118527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233677

rs_727503854

5 SubmittersRCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719

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

SNV
Germline

Chr12:88071446

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA233668

rs_727503852

2 SubmittersRCV000152971 RCV001425231

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

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000400108 RCV000291841 RCV000344957 RCV000399776 RCV000346891 RCV001085341 RCV003888583

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

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV001084413 RCV001112002 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV000835406

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

SNV
Germline

Chr12:88117141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241104

rs_372349042

6 SubmittersRCV000175368 RCV000724312 RCV001088014 RCV001275034

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

SNV
Germline

Chr12:88107095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242475

rs_371159780

5 SubmittersRCV000176500 RCV003150970 RCV001074978 RCV001086387

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

SNV
Germline

Chr12:88102849

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

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

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

SNV
Germline

Chr12:88089407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000400157 RCV000300808 RCV000335768 RCV000348352 RCV001699223 RCV000198308 RCV001826899 RCV000401126 RCV004528944

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

SNV
Germline

Chr12:88087872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA244173

rs_184143186

8 SubmittersRCV000177662 RCV001273073 RCV003150971 RCV004975310 RCV001080328

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

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

11 SubmittersRCV001036300 RCV000523279 RCV001826904 RCV004816287 RCV002222427 RCV001376454 RCV003468864 RCV005003531

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

SNV
Germline

Chr12:88080402

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA244955

rs_762217156

2 SubmittersRCV000177954 RCV001496142

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

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

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

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

SNV
Germline

Chr12:88060900

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202959

rs_191613017

5 SubmittersRCV000178636 RCV001697163 RCV000637007 RCV001272011

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

SNV
Germline

Chr12:88060026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245845

rs_794727692

3 SubmittersRCV000178672 RCV001451553 RCV002517742

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

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

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

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

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

13 SubmittersRCV000724859 RCV000179538 RCV001275047 RCV001526756 RCV005008108 RCV001082749 RCV004537490 RCV005305978

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

SNV
Germline

Chr12:88071409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA208989

rs_780570235

3 SubmittersRCV000194670 RCV000867286 RCV004530109

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

SNV
Germline

Chr12:88092734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206711

rs_11836796

4 SubmittersRCV000193317 RCV001487901 RCV004530107

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

SNV
Germline

Chr12:88120196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206543

rs_777299440

3 SubmittersRCV000193213 RCV000870071 RCV004541238

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

SNV
Germline

Chr12:88086450

Likely pathogenic

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

No Assertion Criteria Provided

CA347348

rs_797044604

1 SubmittersRCV000192446

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

SNV
Unknown

Chr12:88055597

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA279539

rs_863225187

2 SubmittersRCV000201753 RCV004567442

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

SNV
Unknown

Chr12:88068585

Pathogenic

Joubert syndrome 5

Criteria Provided
Single Submitter

CA277694

rs_779262951

1 SubmittersRCV000201548

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

SNV
Germline

Chr12:88071373

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277735

rs_371525247

8 SubmittersRCV000201627 RCV000598256 RCV003468924 RCV001382359 RCV004798806 RCV004816348 RCV005003554

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

SNV
Germline

Chr12:88079112

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

9 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005623073 RCV005361163

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

SNV
Germline

Chr12:88083161

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

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

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

SNV
Germline

Chr12:88084768

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

14 SubmittersRCV000201597 RCV000521437 RCV001828040 RCV001036850 RCV003155122 RCV002250594 RCV003468926 RCV002485329 RCV004816349

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

SNV
Germline

Chr12:88086083

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

16 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001030764 RCV001002937 RCV000816913 RCV001529566 RCV001589085 RCV004732782 RCV003468919

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

SNV
Germline

Chr12:88111226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA277728

rs_748034744

5 SubmittersRCV000201605 RCV001074504 RCV001471584 RCV005003555 RCV004975329

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

SNV
Germline

Chr12:88118642

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279529

rs_863225186

5 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141

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

SNV
Germline

Chr12:88130283

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279451

rs_863225185

4 SubmittersRCV000201653 RCV000503197 RCV002519580 RCV003159108

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

SNV
Unknown

Chr12:88141034

Pathogenic

Joubert syndrome 5

Criteria Provided
Single Submitter

CA279380

rs_863225188

1 SubmittersRCV000201578

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

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386

NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter)

SNV
Germline

Chr12:88083858

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

CA10581684

rs_878853361

1 SubmittersRCV000225618

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

SNV
Germline

Chr12:88117076

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829

NM_025114.4(CEP290):c.297+1G>T

SNV
Germline

Chr12:88139144

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581686

rs_878853360

7 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003469116 RCV003155133 RCV005003571

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

SNV
Germline

Chr12:88140988

Likely pathogenic

Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA10581687

rs_878853363

2 SubmittersRCV000225409 RCV001854802

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

SNV
Germline

Chr12:88055666

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109948 RCV001109944 RCV001109946 RCV004725118

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

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711827

rs_371582975

4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415

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

SNV
Germline

Chr12:88107031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712316

rs_764963626

8 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413

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

SNV
Germline

Chr12:88126442

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712651

rs_199770158

8 SubmittersRCV000238918 RCV000509374 RCV000727048 RCV002519864 RCV001083590 RCV004816452

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

SNV
Germline

Chr12:88077777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV000297940 RCV000338834 RCV000342377 RCV001828148

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

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000270848 RCV000383188 RCV000860688 RCV000283968 RCV000328558 RCV000338967 RCV001833282 RCV001546981

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

SNV
Germline

Chr12:88118525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712494

rs_561018129

5 SubmittersRCV000249364 RCV001241555 RCV001195819 RCV005008220 RCV005318354

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

SNV
Germline

Chr12:88118708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001086907 RCV001109701 RCV001109703 RCV001572697 RCV001113718 RCV001113719 RCV001109702

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

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001311004 RCV001113799 RCV001275038 RCV001109774 RCV001113800 RCV001113801 RCV001113802

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

SNV
Germline

Chr12:88083848

Pathogenic

Joubert syndrome and related disorders

No Assertion Criteria Provided

CA10588971

rs_886039808

1 SubmittersRCV000256429

NM_025114.4(CEP290):c.3943G>T (p.Glu1315Ter)

SNV
Germline

Chr12:88089118

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10603175

rs_886042020

1 SubmittersRCV000324284

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

SNV
Germline

Chr12:88114536

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV002500965 RCV001833301 RCV003463734

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

SNV
Germline

Chr12:88125343

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

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

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

SNV
Germline

Chr12:88106770

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002479997 RCV001380938 RCV003447521 RCV003469220 RCV002222465 RCV004816477

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

SNV
Germline

Chr12:88139566

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10604124

rs_886042359

4 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234

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

SNV
Germline

Chr12:88071833

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10604125

rs_886042360

6 SubmittersRCV001199656 RCV003469223 RCV004732816 RCV001384490 RCV000593831

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

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702 RCV001113144

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

SNV
Germline

Chr12:88093839

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10604281

rs_886042467

2 SubmittersRCV000316579 RCV001417740

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

SNV
Germline

Chr12:88086038

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000498064 RCV000779117 RCV000473837 RCV000763313 RCV001271571

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

SNV
Germline

Chr12:88058946

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6711440

rs_751895513

2 SubmittersRCV000306500 RCV001460678

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

SNV
Germline

Chr12:88106824

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA10606630

rs_886044332

2 SubmittersRCV000268793 RCV001859707

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

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

11 SubmittersRCV002467720 RCV005355616 RCV001331377 RCV000454208 RCV001833396 RCV000497486 RCV000801486 RCV002522012 RCV003463776 RCV004537606

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

SNV
Germline

Chr12:88059985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711473

rs_772603458

7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997

NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

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

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

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000305920 RCV000299546 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199

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

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000330322 RCV000372028 RCV000338378 RCV000422198 RCV000387258 RCV004537755

NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)

SNV
Germline

Chr12:88049259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747

NM_025114.4(CEP290):c.7209+7T>G

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 RCV001409432

NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627

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

SNV
Germline

Chr12:88087910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638682

rs_548558619

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

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

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375

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

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

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

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212

NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721

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

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336

NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001347081 RCV001273072 RCV004732840

NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)

SNV
Germline

Chr12:88089271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001273076 RCV001555535 RCV001590930 RCV001074452 RCV002520840 RCV004544543

NM_025114.4(CEP290):c.2616G>A (p.Ser872=)

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544

NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002461069 RCV002467729

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

SNV
Germline

Chr12:88141905

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV001642965 RCV000402356

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

SNV
Germline

Chr12:88086400

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749

NM_025114.4(CEP290):c.1623+10G>T

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128

NM_025114.4(CEP290):c.503G>A (p.Arg168His)

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

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

NM_025114.4(CEP290):c.268A>T (p.Lys90Ter)

SNV
Germline

Chr12:88139174

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042812

rs_1057517886

1 SubmittersRCV000413097

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

SNV
Germline

Chr12:88131209

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712782

rs_757641323

9 SubmittersRCV000414162 RCV000552078 RCV002470852 RCV005010313 RCV000999862 RCV005540072 RCV003463818

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

SNV
Germline

Chr12:88093977

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712210

rs_773386777

3 SubmittersRCV000415418 RCV003470370 RCV003766166

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

SNV
Germline

Chr12:88102888

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043473

rs_1057518822

4 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147

NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys)

SNV
Germline

Chr12:88053733

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16043896

rs_375548374

1 SubmittersRCV000415801

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

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

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

NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV001245037 RCV000765111 RCV000417476 RCV001276484 RCV003889881

NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)

SNV
Germline

Chr12:88068525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711569

rs_765002773

5 SubmittersRCV000421065 RCV000726726 RCV001828431 RCV001083326 RCV004533083

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

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

4 SubmittersRCV001112007 RCV001112009 RCV001112452 RCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV002510886

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

SNV
Germline

Chr12:88111728

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712388

rs_752513342

3 SubmittersRCV000436721 RCV001242972 RCV004532991

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

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001111899 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898

NM_025114.4(CEP290):c.4705-1G>T

SNV
Germline

Chr12:88083955

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711875

rs_777464278

5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV003470556 RCV004527588

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

SNV
Germline

Chr12:88092680

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619601

rs_766952056

2 SubmittersRCV000485299 RCV001070331

NM_025114.4(CEP290):c.1910-11T>G

SNV
Germline

Chr12:88114573

Pathogenic

Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA658656314

rs_1555220638

3 SubmittersRCV000515679 RCV004800425 RCV003470596

NM_025114.4(CEP290):c.1623+5G>A

SNV
Germline

Chr12:88118638

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA385979079

rs_1555222073

1 SubmittersRCV000515712

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

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

12 SubmittersRCV000687629 RCV001075395 RCV000498458 RCV001535842 RCV002248731 RCV003464071 RCV001271569 RCV002222534

NM_025114.4(CEP290):c.1066-1G>A

SNV
Germline

Chr12:88125370

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

6 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914

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

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660

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

SNV
Germline

Chr12:88121168

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712608

rs_200818935

3 SubmittersRCV000523813 RCV001378303 RCV003470653

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

SNV
Germline

Chr12:88060995

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV001276485 RCV000555880 RCV002491001 RCV003470742

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

SNV
Germline

Chr12:88080196

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385990901

rs_1555205328

1 SubmittersRCV000525824

NM_025114.4(CEP290):c.384T>C (p.Asp128=)

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV000550067 RCV001110659 RCV001110660 RCV001112627 RCV001112629 RCV001112628 RCV001821528 RCV003889921

NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711500

rs_184323010

5 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187 RCV004732937

NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter)

SNV
Germline

Chr12:88120162

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385979851

rs_1278679056

1 SubmittersRCV000540957

NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)

SNV
Germline

Chr12:88121157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712602

rs_773578133

4 SubmittersRCV000526103 RCV000839270 RCV005010500 RCV004537946

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

SNV
Germline

Chr12:88126446

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712652

rs_200729812

5 SubmittersRCV001083503 RCV000595738 RCV004817765

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

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV001091342 RCV001199655 RCV000787558 RCV000542843 RCV002289749 RCV002497107

NM_025114.4(CEP290):c.3097A>T (p.Lys1033Ter)

SNV
Germline

Chr12:88096894

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA386006815

rs_1555213161

1 SubmittersRCV000579022

NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)

SNV
Germline

Chr12:88118485

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA385978708

rs_1272411609

4 SubmittersRCV000579059 RCV002530367 RCV003459415 RCV004817775

NM_025114.4(CEP290):c.5012+2T>C

SNV
Germline

Chr12:88083029

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334

NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058868

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002282253 RCV002250666 RCV002294351 RCV002506412 RCV003459464

NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter)

SNV
Germline

Chr12:88102918

Pathogenic

Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6712241

rs_780805963

2 SubmittersRCV000592129 RCV002531013

NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)

SNV
Germline

Chr12:88050366

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6711330

rs_779550219

2 SubmittersRCV000591424 RCV001474775

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

SNV
Germline

Chr12:88089106

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712052

rs_182851622

5 SubmittersRCV000591618 RCV001079405 RCV001273075

NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)

SNV
Germline

Chr12:88060988

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385978953

rs_1555197766

2 SubmittersRCV000599471 RCV003465350

NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg)

SNV
Germline

Chr12:88054370

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA385975540

rs_1424407266

3 SubmittersRCV000610787 RCV002528645 RCV004732977

NM_025114.4(CEP290):c.1455A>G (p.Glu485=)

SNV
Germline

Chr12:88120181

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712552

rs_755893750

3 SubmittersRCV000602144 RCV000928531 RCV005243308

NM_025114.4(CEP290):c.5710-3C>G

SNV
Unknown

Chr12:88071929

Likely pathogenic

Occipital encephalocele
Cystic renal dysplasia

Criteria Provided
Single Submitter

CA658797938

rs_1555202126

1 SubmittersRCV000626967

NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000779118 RCV000763316 RCV000814304 RCV003465363

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

SNV
Germline

Chr12:88118744

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA385979532

rs_1192112844

2 SubmittersRCV000636997 RCV001829789

NM_025114.4(CEP290):c.3594G>A (p.Ser1198=)

SNV
Germline

Chr12:88089467

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6712109

rs_376645523

2 SubmittersRCV000733948 RCV001088081

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

SNV
Germline

Chr12:88125357

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV004732982 RCV003459522

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

SNV
Germline

Chr12:88087906

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712031

rs_377227262

2 SubmittersRCV001088958 RCV000733952

NM_025114.4(CEP290):c.6646-11T>G

SNV
Germline

Chr12:88059031

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA606675613

rs_1431021703

3 SubmittersRCV000658659 RCV001199653 RCV004817858

NM_025114.4(CEP290):c.6135+2T>A

SNV
Germline

Chr12:88068520

Likely pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA385981825

rs_1555200648

2 SubmittersRCV000658660 RCV004817859

NM_025114.4(CEP290):c.43C>G (p.Pro15Ala)

SNV
Germline

Chr12:88141265

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA385990362

rs_1425716932

2 SubmittersRCV000658664 RCV001199652

NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)

SNV
Germline

Chr12:88083083

Pathogenic

Leber congenital amaurosis 10
Condition: not provided

No Assertion Criteria Provided

CA385992764

rs_1226324483

2 SubmittersRCV000678536 RCV001700446

NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)

SNV
Germline

Chr12:88130553

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712767

rs_772170760

7 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002536346 RCV003465619 RCV002499260 RCV005620388

NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712327

rs_201569048

8 SubmittersRCV001115045 RCV001829910 RCV000689950 RCV001115041 RCV001115043 RCV004026344 RCV002477547 RCV005407885 RCV001115042 RCV001115044 RCV001756171 RCV004527741

NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr12:88111318

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712362

rs_753884599

6 SubmittersRCV000710064 RCV001868322 RCV003465647 RCV002493254 RCV004817947 RCV003141716

NM_025114.4(CEP290):c.4704+1G>T

SNV
Germline

Chr12:88084585

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385994328

rs_1565835538

3 SubmittersRCV000722624 RCV003465653

NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)

SNV
Germline

Chr12:88115149

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA385977222

rs_1203763812

2 SubmittersRCV001211577 RCV000722987

NM_025114.4(CEP290):c.2067G>A (p.Lys689=)

SNV
Germline

Chr12:88111844

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA481050498

rs_1425613490

3 SubmittersRCV000731111 RCV001473193 RCV004535841

NM_025114.4(CEP290):c.2351T>A (p.Leu784Ter)

SNV
Germline

Chr12:88111218

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA385974395

rs_1206723575

1 SubmittersRCV000760734

NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)

SNV
Germline

Chr12:88071860

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711646

rs_561598805

6 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316 RCV005004418

NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr12:88118660

Pathogenic/Likely pathogenic

Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA385979179

rs_1465414886

2 SubmittersRCV000785903 RCV001383424

NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)

SNV
Unknown

Chr12:88055665

Pathogenic

Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385976524

rs_1592726020

2 SubmittersRCV000787561 RCV003467319

NM_025114.4(CEP290):c.5587-1G>C

SNV
Germline

Chr12:88077345

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241153138

rs_968692633

10 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa
Joubert syndrome 1
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA241150716

rs_778030031

6 SubmittersRCV000815985 RCV002495153 RCV003324535 RCV000988881 RCV003467476 RCV004733054

NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter)

SNV
Germline

Chr12:88087788

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385998850

rs_1459653241

1 SubmittersRCV000796936

NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087934

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385999345

rs_1339975972

3 SubmittersRCV000820623 RCV003467498 RCV005004450

NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)

SNV
Germline

Chr12:88089259

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000671

rs_1468942944

3 SubmittersRCV000823686 RCV001830822 RCV003467520

NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)

SNV
Germline

Chr12:88118549

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712499

rs_760415289

9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV003467439 RCV002487758 RCV004733051 RCV004818045

NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr12:88125363

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385981555

rs_1592656929

1 SubmittersRCV000791790

NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr12:88136762

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987715

rs_1290241933

8 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052 RCV005004443

NM_025114.4(CEP290):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr12:88140970

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385989775

rs_1592706963

1 SubmittersRCV000823106

NM_025114.4(CEP290):c.3104-5T>G

SNV
Germline

Chr12:88093980

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA693075676

rs_1302558061

2 SubmittersRCV000824247 RCV005004455

NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)

SNV
Germline

Chr12:88077266

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711680

rs_186330724

3 SubmittersRCV001219059 RCV000841438 RCV004538159

NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)

SNV
Germline

Chr12:88089085

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712051

rs_377156725

4 SubmittersRCV000827318 RCV002538257 RCV004733059 RCV005004458

NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)

SNV
Germline

Chr12:88083854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711864

rs_369451049

8 SubmittersRCV001000093 RCV001244303 RCV001830860 RCV003448352 RCV003889992 RCV004029250 RCV004538167 RCV005012383

NM_025114.4(CEP290):c.2456A>T (p.Gln819Leu)

SNV
Germline

Chr12:88109093

Likely pathogenic

Meckel syndrome, type 4

Criteria Provided
Single Submitter

CA385972643

rs_1209421607

1 SubmittersRCV001000094

NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711785

rs_375817905

6 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193 RCV005012385

NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712401

rs_200454865

8 SubmittersRCV000860704 RCV001111804 RCV001111805 RCV001111806 RCV001111807 RCV001275033 RCV001112276 RCV001546810 RCV004538174 RCV005359613

NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711720

rs_370464321

4 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057 RCV005306188

NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711789

rs_757738553

5 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110313 RCV001110312 RCV001110314 RCV005012389 RCV004538287 RCV004797884

NM_025114.4(CEP290):c.3498T>G (p.Val1166=)

SNV
Germline

Chr12:88090803

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712129

rs_750099379

3 SubmittersRCV000865008 RCV004733070 RCV005012386

NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712248

rs_546463648

5 SubmittersRCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV001113520 RCV004540210 RCV005626246

NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712294

rs_147362398

7 SubmittersRCV000864755 RCV001111620 RCV001111621 RCV001111622 RCV001111624 RCV001111623 RCV002294390 RCV001275029 RCV003889993 RCV004538226 RCV005359621

NM_025114.4(CEP290):c.1057C>T (p.Leu353=)

SNV
Germline

Chr12:88126324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241155305

rs_1036812157

2 SubmittersRCV000872788 RCV005012390

NM_025114.4(CEP290):c.6358-5C>T

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711508

rs_372986399

4 SubmittersRCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001114082 RCV000915534 RCV001272014 RCV004533513

NM_025114.4(CEP290):c.6271-8T>G

SNV
Germline

Chr12:88062786

Pathogenic/Likely pathogenic

Joubert syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA241147940

rs_1039146791

4 SubmittersRCV000988880 RCV001869357 RCV003467551 RCV002252287

NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)

SNV
Unknown

Chr12:88084586

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA385994330

rs_1592836704

1 SubmittersRCV000988882

NM_025114.4(CEP290):c.1522+1G>C

SNV
Unknown

Chr12:88120113

Pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA385979621

rs_1592639588

1 SubmittersRCV000988889

NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)

SNV
Unknown

Chr12:88129007

Pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA385983941

rs_1592668925

1 SubmittersRCV000988891

NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)

SNV
Germline

Chr12:88139522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712876

rs_779010679

6 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415

NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)

SNV
Unknown

Chr12:88141294

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA385990528

rs_1434632102

1 SubmittersRCV000988893

NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)

SNV
Germline

Chr12:88053733

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711362

rs_375548374

6 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027 RCV004818114 RCV005012429

NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)

SNV
Germline

Chr12:88130309

Pathogenic/Likely pathogenic

Condition: not provided
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712724

rs_763473957

3 SubmittersRCV000994957 RCV002286795 RCV004569838

NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)

SNV
Germline

Chr12:88071848

Pathogenic

Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385984785

rs_1592784618

5 SubmittersRCV001002935 RCV001860525 RCV003890157 RCV004004474 RCV003467562

NM_025114.4(CEP290):c.4029+1G>A

SNV
Germline

Chr12:88089031

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA385999953

rs_2036808766

2 SubmittersRCV001199654 RCV002275200

NM_025114.4(CEP290):c.102+1G>T

SNV
Germline

Chr12:88141205

Pathogenic

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385990067

rs_2040637111

2 SubmittersRCV001091343 RCV001199657

NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385984278

rs_45502896

4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577

NM_025114.4(CEP290):c.297+1G>A

SNV
Germline

Chr12:88139144

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385988563

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)

SNV
Germline

Chr12:88055700

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385976661

rs_2033943937

3 SubmittersRCV001074527 RCV001063917 RCV005012517

NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)

SNV
Germline

Chr12:88059909

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385977934

rs_2034330893

1 SubmittersRCV001053194

NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)

SNV
Germline

Chr12:88089468

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001282

rs_372640024

1 SubmittersRCV001045344

NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr12:88106887

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Abnormality of prenatal development or birth

Criteria Provided
Multiple Submitters
No Conflicts

CA241149016

rs_903257336

2 SubmittersRCV001046023 RCV001814260

NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712356

rs_199583200

5 SubmittersRCV001057249 RCV001111727 RCV001111724 RCV001111726 RCV001562596 RCV001111723 RCV001111725 RCV001832517 RCV004536115

NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr12:88118567

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385979035

rs_1186821575

3 SubmittersRCV001047416 RCV001832446 RCV003467750

NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr12:88136717

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712821

rs_770126103

7 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003228800 RCV003462577 RCV005253701 RCV005532835

NM_025114.4(CEP290):c.4030-2A>G

SNV
Germline

Chr12:88087946

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385999375

rs_2036722229

1 SubmittersRCV001041071

NM_025114.4(CEP290):c.1712-2A>T

SNV
Germline

Chr12:88117147

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6712483

rs_764551108

1 SubmittersRCV001035038

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712506

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

NM_025114.4(CEP290):c.1189+1G>A

SNV
Germline

Chr12:88125245

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385981026

rs_2039659434

4 SubmittersRCV001063723 RCV001274129 RCV003467821 RCV001814265

NM_025114.4(CEP290):c.3573+2T>C

SNV
Germline

Chr12:88090726

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001535

rs_1219277452

1 SubmittersRCV001061596

NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)

SNV
Germline

Chr12:88055644

Pathogenic/Likely pathogenic

Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385976380

rs_2033937635

3 SubmittersRCV001074469 RCV003768995 RCV003469275

NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)

SNV
Germline

Chr12:88079202

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711749

rs_748471942

6 SubmittersRCV001074245 RCV001759855 RCV001234472 RCV003469274 RCV004733151

NM_025114.4(CEP290):c.4490C>A (p.Ser1497Ter)

SNV
Germline

Chr12:88084800

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA385995563

rs_1345994179

1 SubmittersRCV001074470

NM_025114.4(CEP290):c.3220G>T (p.Glu1074Ter)

SNV
Germline

Chr12:88093859

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA386006124

rs_2037229663

1 SubmittersRCV001074054

NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)

SNV
Germline

Chr12:88109135

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712335

rs_762633090

6 SubmittersRCV001075311 RCV001243657 RCV003331040 RCV001836118 RCV003469278 RCV005540273

NM_025114.4(CEP290):c.6012-12T>A

SNV
Germline

Chr12:88068657

Pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA6711593

rs_752197734

4 SubmittersRCV001073239 RCV003469270 RCV003768988 RCV005253708

NM_025114.4(CEP290):c.5586+1G>C

SNV
Germline

Chr12:88077696

Likely pathogenic

Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385987997

rs_2035880971

2 SubmittersRCV001075437 RCV001862612

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

SNV
Germline

Chr12:88083234

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA916083326

rs_2036324053

3 SubmittersRCV001075281 RCV002069583 RCV004733153

NM_025114.4(CEP290):c.2818-2A>G

SNV
Germline

Chr12:88103013

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA385970131

rs_2038012556

1 SubmittersRCV001074050

NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058869

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977236

rs_2034232539

4 SubmittersRCV001090821 RCV003769016 RCV003469280 RCV005012543

NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)

SNV
Germline

Chr12:88068626

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241149784

rs_750073051

4 SubmittersRCV001090822 RCV002554821 RCV003469281 RCV005012544

NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)

SNV
Germline

Chr12:88118673

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712521

rs_763559949

3 SubmittersRCV001091340 RCV002555950 RCV003469282

NM_025114.4(CEP290):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712933

rs_368984997

6 SubmittersRCV001091344 RCV002482162 RCV001862693 RCV004536141 RCV004813738

NM_025114.4(CEP290):c.1A>G (p.Met1Val)

SNV
Germline

Chr12:88141307

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385990599

rs_2040644756

3 SubmittersRCV001091345 RCV002555951 RCV004813739

NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711638

rs_752046733

2 SubmittersRCV001112803 RCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001462557

NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241153115

rs_777353443

2 SubmittersRCV001110127 RCV001110129 RCV001110125 RCV001110126 RCV001110128 RCV002067798

NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA481077013

rs_1159465602

2 SubmittersRCV001113346 RCV001114718 RCV001113347 RCV001114719 RCV001114717 RCV001400067

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712702

rs_200587974

6 SubmittersRCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV004538332 RCV003227912

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA481055452

rs_886049885

3 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187 RCV005606766

NM_025114.4(CEP290):c.6012-2A>G

SNV
Germline

Chr12:88068647

Pathogenic

Joubert syndrome 5
Leber congenital amaurosis
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241149791

rs_555755221

4 SubmittersRCV001198220 RCV001828613 RCV001211579 RCV003469314

NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)

SNV
Germline

Chr12:88089250

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000654

rs_1412133967

10 SubmittersRCV001222226 RCV001529282 RCV001828771 RCV004813908 RCV004546619 RCV002283532

NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)

SNV
Germline

Chr12:88090781

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386001942

rs_2036974151

1 SubmittersRCV001204615

NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)

SNV
Germline

Chr12:88117104

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385978257

rs_867094910

2 SubmittersRCV001203138 RCV004570424

NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)

SNV
Germline

Chr12:88136746

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385987649

rs_2040373653

1 SubmittersRCV001202458

NM_025114.4(CEP290):c.5709+1G>A

SNV
Germline

Chr12:88077221

Pathogenic

Leber congenital amaurosis
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA6711675

rs_759850328

2 SubmittersRCV001833851 RCV001211207

NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)

SNV
Germline

Chr12:88090787

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386001998

rs_2036975289

1 SubmittersRCV001232419

NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386006028

rs_886042467

2 SubmittersRCV001237935 RCV002504334

NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr12:88120246

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980173

rs_1437841365

2 SubmittersRCV001230980 RCV003469413

NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711377

rs_200969981

10 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004577955 RCV004538510 RCV004609704 RCV004813996

NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711621

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV002499432 RCV001835317 RCV003887972 RCV004538524

NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)

SNV
Germline

Chr12:88121121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712594

rs_189280108

6 SubmittersRCV001244829 RCV002504354 RCV001835216 RCV004538514 RCV004978200 RCV004720814

NM_025114.4(CEP290):c.942+1G>C

SNV
Germline

Chr12:88128945

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385983525

rs_2039897317

2 SubmittersRCV001230885 RCV003469412

NM_025114.4(CEP290):c.251-2A>G

SNV
Germline

Chr12:88139193

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA241166997

rs_951979448

1 SubmittersRCV001237836

NM_025114.4(CEP290):c.6135+1G>A

SNV
Germline

Chr12:88068521

Pathogenic

Joubert syndrome 5
Intellectual disability

Criteria Provided
Single Submitter

CA385981830

rs_2035114607

1 SubmittersRCV001262195 RCV001255342

NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)

SNV
Germline

Chr12:88079127

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Severe hydrocephalus
Encephalocele
Polycystic kidney disease
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711738

rs_774410421

4 SubmittersRCV001382992 RCV001257363 RCV005012700 RCV004570649

NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome 5

Criteria Provided
Single Submitter

CA385994093

rs_1292516576

1 SubmittersRCV001261608 RCV001261602

NM_025114.4(CEP290):c.6271-1G>A

SNV
Germline

Chr12:88062779

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2034579709

1 SubmittersRCV005012702

NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)

SNV
Germline

Chr12:88089214

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000583

rs_2036824785

5 SubmittersRCV001390760 RCV004796396 RCV005005128 RCV003120515 RCV003469489

NM_025114.4(CEP290):c.373G>T (p.Glu125Ter)

SNV
Germline

Chr12:88136711

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA385987450

rs_2040371663

1 SubmittersRCV001267299

NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter)

SNV
Germline

Chr12:88071896

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA385985144

rs_2035405646

1 SubmittersRCV001268159

NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)

SNV
Germline

Chr12:88117110

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA385978293

rs_1459958084

3 SubmittersRCV001279555 RCV002493497 RCV005318701

NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385994080

rs_1292516576

4 SubmittersRCV001283851 RCV002541764 RCV003135916 RCV003989669

NM_025114.4(CEP290):c.2217+2T>C

SNV
Germline

Chr12:88111692

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385974764

rs_2038702746

2 SubmittersRCV001330036 RCV001863212

NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter)

SNV
Germline

Chr12:88089127

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA6712056

rs_774705706

1 SubmittersRCV001387506

NM_025114.4(CEP290):c.3310-5C>A

SNV
Germline

Chr12:88092837

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499221894

rs_2137345196

2 SubmittersRCV001361154 RCV001762620

NM_025114.4(CEP290):c.1523-412C>T

SNV
Germline

Chr12:88119155

Likely pathogenic

Leber congenital amaurosis 10

Criteria Provided
Single Submitter

CA606449808

rs_1381940328

1 SubmittersRCV001376368

NM_025114.4(CEP290):c.6357+1G>A

SNV
Germline

Chr12:88062691

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385979054

rs_1196938557

2 SubmittersRCV001378757 RCV005005228

NM_025114.4(CEP290):c.5586+1G>T

SNV
Germline

Chr12:88077696

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987996

rs_2035880971

2 SubmittersRCV001377792 RCV005005225

NM_025114.4(CEP290):c.3309+2T>C

SNV
Germline

Chr12:88093768

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241168580

rs_1007902545

2 SubmittersRCV001379336 RCV003469638

NM_025114.4(CEP290):c.943-1G>C

SNV
Germline

Chr12:88126439

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385983224

rs_2138025029

1 SubmittersRCV001378660

NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385972484

rs_1374014119

3 SubmittersRCV001384498 RCV005614538 RCV002493927

NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)

SNV
Germline

Chr12:88049337

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711302

rs_775189201

2 SubmittersRCV001383766 RCV003469701

NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)

SNV
Germline

Chr12:88054380

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385975607

rs_1414041522

1 SubmittersRCV001390986

NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)

SNV
Germline

Chr12:88071364

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711612

rs_767426153

3 SubmittersRCV001388961 RCV003469749 RCV005005926

NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter)

SNV
Germline

Chr12:88080211

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385990960

rs_1367899236

1 SubmittersRCV001384921

NM_025114.4(CEP290):c.4195-1G>T

SNV
Germline

Chr12:88086499

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385997799

rs_751807811

1 SubmittersRCV001388146

NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)

SNV
Germline

Chr12:88087884

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385999234

rs_779645669

5 SubmittersRCV001381486 RCV002476720 RCV003156344 RCV004733280 RCV001836389

NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)

SNV
Germline

Chr12:88089136

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000397

rs_2036816455

2 SubmittersRCV001382323 RCV003469675

NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)

SNV
Germline

Chr12:88089139

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA386000405

rs_1417251616

3 SubmittersRCV001385692 RCV004699357 RCV004531195

NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter)

SNV
Germline

Chr12:88092808

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386004646

rs_2137344539

1 SubmittersRCV001388128

NM_025114.4(CEP290):c.3310-2A>G

SNV
Germline

Chr12:88092834

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386004787

rs_2137345150

1 SubmittersRCV001383617

NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter)

SNV
Germline

Chr12:88096969

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386007140

rs_2037477197

1 SubmittersRCV001382107

NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter)

SNV
Germline

Chr12:88111315

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385974674

rs_2137711696

1 SubmittersRCV001382457

NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)

SNV
Germline

Chr12:88114485

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385976857

rs_2038919221

3 SubmittersRCV001383423 RCV003469695 RCV005057356

NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter)

SNV
Germline

Chr12:88125270

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385981142

rs_2138000998

1 SubmittersRCV001389479

NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr12:88126321

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385982588

rs_2138021345

4 SubmittersRCV001386120 RCV005005236 RCV005409820 RCV003469719

NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr12:88130405

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385986468

rs_2039993548

2 SubmittersRCV001387371 RCV003469732

NM_025114.4(CEP290):c.355C>T (p.Gln119Ter)

SNV
Germline

Chr12:88136729

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385987566

rs_2138215835

1 SubmittersRCV001384356

NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr12:88136777

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712832

rs_752144368

2 SubmittersRCV001386072 RCV003469718

NM_025114.4(CEP290):c.4195-9T>C

SNV
Germline

Chr12:88086507

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712001

rs_546957016

2 SubmittersRCV001398908 RCV002272470

NM_025114.4(CEP290):c.3429G>A (p.Lys1143=)

SNV
Germline

Chr12:88092713

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712143

rs_769362204

2 SubmittersRCV001418489 RCV005419123

NM_025114.4(CEP290):c.6120A>G (p.Thr2040=)

SNV
Germline

Chr12:88068537

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711572

rs_766265410

3 SubmittersRCV001424404 RCV001820118 RCV004733299

NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)

SNV
Germline

Chr12:88068590

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA481071572

rs_764861728

2 SubmittersRCV001429116 RCV001839044

NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)

SNV
Germline

Chr12:88080279

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711788

rs_754184488

3 SubmittersRCV001462219 RCV004528501 RCV005005248

NM_025114.4(CEP290):c.853-9G>A

SNV
Germline

Chr12:88129044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712684

rs_974759127

3 SubmittersRCV001458619 RCV001820151 RCV004733331

NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)

SNV
Unknown

Chr12:88096906

Likely pathogenic

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

Criteria Provided
Single Submitter

CA386006874

rs_2137423759

1 SubmittersRCV001535856

NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr12:88129834

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385985714

rs_2138086844

5 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860 RCV004782757

NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)

SNV
Germline

Chr12:88084608

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711892

rs_371157150

6 SubmittersRCV001652983 RCV002266008 RCV001827558 RCV002539602 RCV004528526 RCV005308494

NM_025114.4(CEP290):c.4705-2A>C

SNV
Germline

Chr12:88083956

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA385994211

rs_2137170380

2 SubmittersRCV001724852 RCV002227536 RCV001859437

NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)

SNV
Germline

Chr12:88093912

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386006370

rs_1267970567

3 SubmittersRCV001780761 RCV002544259 RCV003470909

NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385973620

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV003470936 RCV002545200

NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter)

SNV
Germline

Chr12:88096978

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386007180

rs_2037478393

1 SubmittersRCV001917076

NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter)

SNV
Germline

Chr12:88049360

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385973003

rs_2136547054

1 SubmittersRCV001997322

NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter)

SNV
Germline

Chr12:88058897

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385977365

rs_2136704614

1 SubmittersRCV001962676

NM_025114.4(CEP290):c.2483+1G>A

SNV
Germline

Chr12:88109065

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385972465

rs_2137661795

2 SubmittersRCV002015044 RCV005002763

NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter)

SNV
Germline

Chr12:88121038

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385980471

rs_2137917114

1 SubmittersRCV001902894

NM_025114.4(CEP290):c.102+2T>G

SNV
Germline

Chr12:88141204

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712915

rs_763226787

5 SubmittersRCV002027685 RCV003471280 RCV002498073 RCV003226528

NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter)

SNV
Germline

Chr12:88055695

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385976647

rs_2136656497

1 SubmittersRCV001945145

NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter)

SNV
Germline

Chr12:88117059

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385978073

rs_2137836218

1 SubmittersRCV001999893

NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)

SNV
Germline

Chr12:88058963

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977637

rs_1375836634

2 SubmittersRCV001941643 RCV003471149

NM_025114.4(CEP290):c.1359+1G>A

SNV
Germline

Chr12:88120996

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241152412

rs_935130451

3 SubmittersRCV002017506 RCV002507780 RCV003471253

NM_025114.4(CEP290):c.251-1G>C

SNV
Germline

Chr12:88139192

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385988942

rs_2138259162

1 SubmittersRCV002017305

NM_025114.4(CEP290):c.361G>T (p.Glu121Ter)

SNV
Germline

Chr12:88136723

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385987523

rs_2138215714

1 SubmittersRCV001961872

NM_025114.4(CEP290):c.1623+2C>A

SNV
Germline

Chr12:88118641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA385979091

rs_2039218006

4 SubmittersRCV001941065 RCV002484634 RCV004733422 RCV005406213

NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter)

SNV
Germline

Chr12:88121109

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980733

rs_1269182131

2 SubmittersRCV001949664 RCV004571748

NM_025114.4(CEP290):c.3573+1G>T

SNV
Germline

Chr12:88090727

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001540

rs_1339320666

1 SubmittersRCV001958976

NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter)

SNV
Germline

Chr12:88107025

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385971794

rs_2038335853

1 SubmittersRCV001896199

NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter)

SNV
Germline

Chr12:88102927

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385969559

rs_1592574519

1 SubmittersRCV002004621

NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter)

SNV
Germline

Chr12:88064064

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385979815

rs_2136814350

1 SubmittersRCV001894546

NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)

SNV
Germline

Chr12:88090808

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386002148

rs_2036977924

2 SubmittersRCV002035322 RCV003471118

NM_025114.4(CEP290):c.3573+1G>C

SNV
Germline

Chr12:88090727

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386001541

rs_1339320666

1 SubmittersRCV002006928

NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr12:88126396

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385982955

rs_2138023519

1 SubmittersRCV002000210

NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter)

SNV
Germline

Chr12:88120231

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385980129

rs_1361189290

1 SubmittersRCV001994798

NM_025114.4(CEP290):c.730G>T (p.Glu244Ter)

SNV
Germline

Chr12:88129816

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385985602

rs_2138086329

1 SubmittersRCV001993385

NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter)

SNV
Germline

Chr12:88060913

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385978669

rs_1234975160

1 SubmittersRCV001942017

NM_025114.4(CEP290):c.2367+2T>C

SNV
Germline

Chr12:88111200

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385974282

rs_2137707354

1 SubmittersRCV001994352

NM_025114.4(CEP290):c.2368-1G>T

SNV
Germline

Chr12:88109182

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385973476

rs_2137665576

1 SubmittersRCV001929413

NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter)

SNV
Germline

Chr12:88083954

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385994177

rs_2137170285

1 SubmittersRCV002002548

NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter)

SNV
Germline

Chr12:88071782

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385984307

rs_2035393800

1 SubmittersRCV001939333

NM_025114.4(CEP290):c.942+1G>A

SNV
Germline

Chr12:88128945

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385983528

rs_2039897317

1 SubmittersRCV002016508

NM_025114.4(CEP290):c.1065+1G>C

SNV
Germline

Chr12:88126315

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385982538

rs_2138021203

1 SubmittersRCV002020667

NM_025114.4(CEP290):c.6961-1G>T

SNV
Germline

Chr12:88054414

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA385975780

rs_2136637204

2 SubmittersRCV002030172 RCV004536360

NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter)

SNV
Germline

Chr12:88083896

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711868

rs_760653238

3 SubmittersRCV001913188 RCV004571578 RCV004728918

NM_025114.4(CEP290):c.661G>T (p.Glu221Ter)

SNV
Germline

Chr12:88130276

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385986113

rs_2138093974

1 SubmittersRCV001936519

NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)

SNV
Germline

Chr12:88102942

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385969667

rs_1180594304

2 SubmittersRCV001951020 RCV003471170

NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386006030

rs_886042467

2 SubmittersRCV001905654 RCV005006155

NM_025114.4(CEP290):c.181-1G>A

SNV
Germline

Chr12:88139565

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA6712882

rs_281865190

1 SubmittersRCV001991357

NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)

SNV
Germline

Chr12:88071343

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385983463

rs_2035358840

2 SubmittersRCV001942295 RCV003471165

NM_025114.4(CEP290):c.4812+1G>A

SNV
Germline

Chr12:88083846

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385993105

rs_2137167420

1 SubmittersRCV001995863

NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)

SNV
Germline

Chr12:88084639

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711898

rs_746305733

2 SubmittersRCV001898905 RCV003471029

NM_025114.4(CEP290):c.3G>A (p.Met1Ile)

SNV
Germline

Chr12:88141305

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712932

rs_773525033

2 SubmittersRCV001956388 RCV005002725

NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter)

SNV
Germline

Chr12:88083218

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385993051

rs_2137156392

1 SubmittersRCV001956092

NM_025114.4(CEP290):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr12:88139555

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385989437

rs_1166981120

1 SubmittersRCV001972739

NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter)

SNV
Germline

Chr12:88077299

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385987708

rs_2137050478

1 SubmittersRCV001969840

NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087933

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385999344

rs_2137251821

1 SubmittersRCV001953690

NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter)

SNV
Germline

Chr12:88083098

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385992801

rs_2137152484

1 SubmittersRCV001963182

NM_025114.4(CEP290):c.4194+2T>A

SNV
Germline

Chr12:88087778

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385998799

rs_2137247685

1 SubmittersRCV002006563

NM_025114.4(CEP290):c.181-9A>G

SNV
Germline

Chr12:88139573

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712885

rs_745494615

3 SubmittersRCV002008872 RCV004538715 RCV005008362

NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)

SNV
Germline

Chr12:88111771

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385975100

rs_1440259390

2 SubmittersRCV001906982 RCV003471033

NM_025114.4(CEP290):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr12:88129804

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Single Submitter

CA385985522

rs_2138085855

1 SubmittersRCV001929705

NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter)

SNV
Germline

Chr12:88089331

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386000827

rs_2137277291

1 SubmittersRCV001914219

NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)

SNV
Germline

Chr12:88084613

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385994556

rs_2137182509

3 SubmittersRCV001979757 RCV005006295 RCV005607036

NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter)

SNV
Germline

Chr12:88093874

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386006186

rs_2137365958

1 SubmittersRCV001909306

NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)

SNV
Germline

Chr12:88141298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241168932

rs_997653455

4 SubmittersRCV001916478 RCV004733414 RCV004975851 RCV005002661

NM_025114.4(CEP290):c.943-1G>A

SNV
Germline

Chr12:88126439

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385983225

rs_2138025029

1 SubmittersRCV001980914

NM_025114.4(CEP290):c.3378G>A (p.Val1126=)

SNV
Germline

Chr12:88092764

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712155

rs_546939043

3 SubmittersRCV002142105 RCV004543835 RCV005002797

NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)

SNV
Germline

Chr12:88083123

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA481075641

rs_1330745435

2 SubmittersRCV002135039 RCV003889054

NM_025114.4(CEP290):c.298-16G>A

SNV
Germline

Chr12:88136802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712840

rs_531851010

2 SubmittersRCV002078512 RCV005002795

NM_025114.4(CEP290):c.6774T>G (p.Leu2258=)

SNV
Germline

Chr12:88058892

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA481059257

rs_2034234195

2 SubmittersRCV002197703 RCV003889030

NM_025114.4(CEP290):c.297+2T>C

SNV
Germline

Chr12:88139143

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA385988554

rs_2040496802

1 SubmittersRCV002211238

NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)

SNV
Germline

Chr12:88077701

Pathogenic/Likely pathogenic

CEP290-related disorder
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385988018

rs_2137056192

2 SubmittersRCV002223093 RCV003089158

NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)

SNV
Germline

Chr12:88107083

Pathogenic/Likely pathogenic

CEP290-related disorder
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385972164

rs_2137624440

3 SubmittersRCV002266544 RCV003774847 RCV004572105

NM_025114.4(CEP290):c.2992-2A>T

SNV
Germline

Chr12:88097001

Likely pathogenic

CEP290-related disorder

Criteria Provided
Single Submitter

CA386007294

rs_2037480406

1 SubmittersRCV002308521

NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)

SNV
Germline

Chr12:88107076

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385972115

rs_2038340977

2 SubmittersRCV002470298 RCV004571174

NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)

SNV
Germline

Chr12:88059903

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711460

rs_768065164

4 SubmittersRCV003062529 RCV003138466 RCV003465923 RCV005010896

NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)

SNV
Germline

Chr12:88139531

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385989259

rs_1292246271

1 SubmittersRCV003041166

NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)

SNV
Germline

Chr12:88129007

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385983943

rs_1592668925

1 SubmittersRCV003051065

NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)

SNV
Germline

Chr12:88071352

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA241150553

rs_1014354752

2 SubmittersRCV002588063 RCV004536624

NM_025114.4(CEP290):c.5709+2T>G

SNV
Germline

Chr12:88077220

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987155

rs_2499838601

3 SubmittersRCV002585497 RCV005011021 RCV003465972

NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)

SNV
Germline

Chr12:88077699

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385988009

rs_2499853126

1 SubmittersRCV002591603

NM_025114.4(CEP290):c.2217+1G>T

SNV
Germline

Chr12:88111693

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385974765

rs_2500759351

1 SubmittersRCV002602816

NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)

SNV
Germline

Chr12:88118513

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385978842

rs_1475139450

2 SubmittersRCV002591896 RCV004572789

NM_025114.4(CEP290):c.853-2A>T

SNV
Germline

Chr12:88129037

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385984096

rs_2039902653

1 SubmittersRCV003106392

NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)

SNV
Germline

Chr12:88086120

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711958

rs_756607245

2 SubmittersRCV002588833 RCV004534128

NM_025114.4(CEP290):c.180G>A (p.Lys60=)

SNV
Germline

Chr12:88140956

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA481055292

rs_2501849042

1 SubmittersRCV002575491

NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)

SNV
Germline

Chr12:88130350

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385986339

rs_2039989513

1 SubmittersRCV002577501

NM_025114.4(CEP290):c.3461+9A>G

SNV
Germline

Chr12:88092672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606456149

rs_1301659851

2 SubmittersRCV002601022 RCV005008649

NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)

SNV
Germline

Chr12:88111720

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385974872

rs_767250881

1 SubmittersRCV002635355

NM_025114.4(CEP290):c.1189+2T>C

SNV
Germline

Chr12:88125244

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385981020

rs_2501269442

2 SubmittersRCV002635356 RCV003465803

NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)

SNV
Germline

Chr12:88083110

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6711828

rs_773390201

1 SubmittersRCV002618037

NM_025114.4(CEP290):c.1910-1G>A

SNV
Germline

Chr12:88114563

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977052

rs_2500817276

2 SubmittersRCV002640094 RCV004571200

NM_025114.4(CEP290):c.853-2A>G

SNV
Germline

Chr12:88129037

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385984098

rs_2039902653

2 SubmittersRCV002694938 RCV003465814

NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)

SNV
Germline

Chr12:88117041

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385977982

rs_2500865968

1 SubmittersRCV002736604

NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)

SNV
Germline

Chr12:88120135

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6712550

rs_780896294

1 SubmittersRCV002790672

NM_025114.4(CEP290):c.5856-2A>C

SNV
Germline

Chr12:88071451

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385984234

rs_2499731924

1 SubmittersRCV002814606

NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)

SNV
Germline

Chr12:88131203

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385986666

rs_2501544530

1 SubmittersRCV002824443

NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)

SNV
Germline

Chr12:88111762

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385975060

rs_2500763272

1 SubmittersRCV002801954

NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)

SNV
Germline

Chr12:88087905

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385999278

rs_2500065308

1 SubmittersRCV002819910

NM_025114.4(CEP290):c.441+1G>C

SNV
Germline

Chr12:88136642

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987066

rs_1184012636

2 SubmittersRCV002815556 RCV003464604

NM_025114.4(CEP290):c.6011+2T>G

SNV
Germline

Chr12:88071292

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385983058

rs_2499726960

2 SubmittersRCV002801728 RCV003465837

NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)

SNV
Germline

Chr12:88077726

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385988116

rs_2035884532

1 SubmittersRCV002819748

NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter)

SNV
Germline

Chr12:88090730

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001554

rs_2500156012

1 SubmittersRCV002802230

NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)

SNV
Germline

Chr12:88087917

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385999302

rs_2500066079

1 SubmittersRCV002846596

NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)

SNV
Germline

Chr12:88080271

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385991178

rs_2499910206

1 SubmittersRCV002862014

NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr12:88129729

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385984355

rs_1592671313

1 SubmittersRCV002816434

NM_025114.4(CEP290):c.4194+1G>C

SNV
Germline

Chr12:88087779

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385998806

rs_1306782857

1 SubmittersRCV002857633

NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)

SNV
Germline

Chr12:88092691

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386003759

rs_2500228774

1 SubmittersRCV002889123

NM_025114.4(CEP290):c.442-1G>A

SNV
Germline

Chr12:88131219

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385986700

rs_2040047006

2 SubmittersRCV002880883 RCV005002894

NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)

SNV
Germline

Chr12:88080310

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385991339

rs_2499911272

3 SubmittersRCV002857203 RCV003465849 RCV005608794

NM_025114.4(CEP290):c.1065+1G>A

SNV
Germline

Chr12:88126315

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA385982540

rs_2138021203

1 SubmittersRCV002867991

NM_025114.4(CEP290):c.2992-2A>C

SNV
Germline

Chr12:88097001

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA386007296

rs_2037480406

1 SubmittersRCV002912647

NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)

SNV
Germline

Chr12:88089340

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000850

rs_2500113822

2 SubmittersRCV002885198 RCV004571420

NM_025114.4(CEP290):c.2587-1G>T

SNV
Germline

Chr12:88106906

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385971663

rs_1247861318

2 SubmittersRCV002894942 RCV003465862

NM_025114.4(CEP290):c.102+2T>A

SNV
Germline

Chr12:88141204

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385990065

rs_763226787

2 SubmittersRCV002952940 RCV003465871

NM_025114.4(CEP290):c.6270+2T>C

SNV
Germline

Chr12:88063979

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385979504

rs_2499616926

2 SubmittersRCV003010340 RCV003465892

NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter)

SNV
Germline

Chr12:88106755

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385970987

rs_2500616179

1 SubmittersRCV003016859

NM_025114.4(CEP290):c.1711+2T>A

SNV
Germline

Chr12:88118481

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385978693

rs_2500935910

1 SubmittersRCV003018225

NM_025114.4(CEP290):c.6818+2T>C

SNV
Germline

Chr12:88058846

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385977135

rs_2499527666

1 SubmittersRCV003021281

NM_025114.4(CEP290):c.5227-2A>G

SNV
Germline

Chr12:88079231

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA6711755

rs_367676646

1 SubmittersRCV003009980

NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)

SNV
Germline

Chr12:88055698

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related ciliopathy
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385976655

rs_2499472817

3 SubmittersRCV003043024 RCV003250703 RCV003465904

NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)

SNV
Germline

Chr12:88087850

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385999153

rs_2500060132

1 SubmittersRCV003023897

NM_025114.4(CEP290):c.250+1G>A

SNV
Germline

Chr12:88139494

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385988999

rs_2501800454

1 SubmittersRCV003055318

NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)

SNV
Germline

Chr12:88080261

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711786

rs_771864158

3 SubmittersRCV003055543 RCV004733557 RCV003459714

NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)

SNV
Germline

Chr12:88059005

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385977837

rs_2034243912

1 SubmittersRCV003039923

NM_025114.4(CEP290):c.3574-1G>A

SNV
Germline

Chr12:88089488

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386001420

rs_2500121878

2 SubmittersRCV003059556 RCV004572641

NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)

SNV
Germline

Chr12:88053700

Pathogenic/Likely pathogenic

CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA241147106

rs_878896889

3 SubmittersRCV003123526 RCV003466017 RCV003778673

NM_025114.4(CEP290):c.4636C>T (p.Gln1546Ter)

SNV
Germline

Chr12:88084654

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA385994854

rs_2499986572

1 SubmittersRCV003141352

NM_025114.4(CEP290):c.297+3A>G

SNV
Germline

Chr12:88139142

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA950221553

rs_2040496521

1 SubmittersRCV003221483

NM_025114.4(CEP290):c.2992-1G>T

SNV
Germline

Chr12:88097000

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386007291

rs_2037480294

2 SubmittersRCV003226856 RCV005003038

NM_025114.4(CEP290):c.5726T>G (p.Leu1909Ter)

SNV
Unknown

Chr12:88071910

Pathogenic

CEP290-related disorder

Criteria Provided
Single Submitter

CA385985247

rs_2499745673

1 SubmittersRCV003228862

NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)

SNV
Germline

Chr12:88071812

Pathogenic

Bardet-Biedl syndrome 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6711636

rs_763345078

2 SubmittersRCV003466054 RCV003318184

NM_025114.4(CEP290):c.3574-2A>G

SNV
Germline

Chr12:88089489

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386001425

rs_2500121943

3 SubmittersRCV003327795 RCV004572932 RCV003777371

NM_025114.4(CEP290):c.1894A>G (p.Lys632Glu)

SNV
Germline

Chr12:88115113

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA385977098

rs_1213124542

3 SubmittersRCV003398206 RCV003889301 RCV004733618

NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)

SNV
Germline

Chr12:88126342

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385982705

rs_1411950710

2 SubmittersRCV003779151 RCV003460391

NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)

SNV
Unknown

Chr12:88064099

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385979990

rs_2499620387

1 SubmittersRCV003466678

NM_025114.4(CEP290):c.3310-1G>A

SNV
Germline

Chr12:88092833

Pathogenic

Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6712163

rs_369935020

2 SubmittersRCV003466679 RCV004818353

NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)

SNV
Unknown

Chr12:88054350

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385975425

rs_2499444300

1 SubmittersRCV003466681

NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)

SNV
Germline

Chr12:88089322

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712094

rs_758878983

2 SubmittersRCV003466685 RCV005012981

NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)

SNV
Germline

Chr12:88083100

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992803

rs_2499957266

2 SubmittersRCV003466687 RCV005012982

NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)

SNV
Unknown

Chr12:88064025

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385979648

rs_2499618420

1 SubmittersRCV003466689

NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)

SNV
Unknown

Chr12:88125264

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385981111

rs_2501271113

1 SubmittersRCV003466691

NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)

SNV
Germline

Chr12:88111767

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385975083

rs_1231122388

2 SubmittersRCV003466697 RCV003779152

NM_025114.4(CEP290):c.5012+2T>G

SNV
Unknown

Chr12:88083029

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385992633

rs_1369768287

1 SubmittersRCV003466698

NM_025114.4(CEP290):c.7209+1G>A

SNV
Germline

Chr12:88050353

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385973593

rs_1420974027

2 SubmittersRCV003779153 RCV003466700

NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)

SNV
Unknown

Chr12:88083032

Pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385992644

rs_1219855028

1 SubmittersRCV003466705

NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)

SNV
Unknown

Chr12:88062724

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385979184

rs_2499596186

1 SubmittersRCV003466706

NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)

SNV
Unknown

Chr12:88071842

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385984750

rs_2499742387

1 SubmittersRCV003466709

NM_025114.4(CEP290):c.2586+1G>A

SNV
Unknown

Chr12:88106995

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385971700

rs_2500627365

1 SubmittersRCV003466710

NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)

SNV
Unknown

Chr12:88049368

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385973088

rs_2136547201

1 SubmittersRCV003466711

NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)

SNV
Unknown

Chr12:88109071

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA6712328

rs_758193337

1 SubmittersRCV003466715

NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)

SNV
Germline

Chr12:88089325

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000812

rs_2500112760

2 SubmittersRCV003466716 RCV005003647

NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)

SNV
Germline

Chr12:88092724

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386004066

rs_766095901

2 SubmittersRCV005216120 RCV003466717

NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)

SNV
Germline

Chr12:88083146

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992903

rs_1159120623

2 SubmittersRCV003779155 RCV003466718

NM_025114.4(CEP290):c.2218-2A>G

SNV
Unknown

Chr12:88111353

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385974761

rs_2500746572

1 SubmittersRCV003466719

NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)

SNV
Unknown

Chr12:88093879

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA386006206

rs_757210438

1 SubmittersRCV003466723

NM_025114.4(CEP290):c.1824+1G>A

SNV
Germline

Chr12:88117032

Likely pathogenic

Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Single Submitter

CA385977943

rs_2500865783

2 SubmittersRCV003466727 RCV004733620

NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)

SNV
Unknown

Chr12:88071914

Pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385985279

rs_2499745769

1 SubmittersRCV003466728

NM_025114.4(CEP290):c.2992-1G>A

SNV
Unknown

Chr12:88097000

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA386007288

rs_2037480294

1 SubmittersRCV003466733

NM_025114.4(CEP290):c.1909+1G>T

SNV
Germline

Chr12:88115097

Likely pathogenic

Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Single Submitter

CA241149826

rs_1006843385

2 SubmittersRCV003466735 RCV004818354

NM_025114.4(CEP290):c.2217+2T>G

SNV
Unknown

Chr12:88111692

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385974762

rs_2038702746

1 SubmittersRCV003466736

NM_025114.4(CEP290):c.6270+1G>T

SNV
Germline

Chr12:88063980

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385979508

rs_1237799214

2 SubmittersRCV003466737 RCV003779156

NM_025114.4(CEP290):c.5855+2T>G

SNV
Unknown

Chr12:88071779

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385984280

rs_2499739840

1 SubmittersRCV003466739

NM_025114.4(CEP290):c.5012+1G>A

SNV
Unknown

Chr12:88083030

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385992638

rs_2499954741

1 SubmittersRCV003466741

NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)

SNV
Germline

Chr12:88107013

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385971769

rs_1168542133

3 SubmittersRCV003466742 RCV005003648 RCV003779157

NM_025114.4(CEP290):c.5855+1G>A

SNV
Unknown

Chr12:88071780

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385984293

rs_1476248618

1 SubmittersRCV003466744

NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)

SNV
Germline

Chr12:88083164

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241156795

rs_868148490

2 SubmittersRCV003466746 RCV003779158

NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)

SNV
Unknown

Chr12:88093892

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA386006270

rs_1397256061

1 SubmittersRCV003466748

NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)

SNV
Unknown

Chr12:88120141

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385979748

rs_2501038652

1 SubmittersRCV003466749

NM_025114.4(CEP290):c.2991+1G>A

SNV
Unknown

Chr12:88102837

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385968871

rs_2500522460

1 SubmittersRCV003466754

NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)

SNV
Germline

Chr12:88089073

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000189

rs_1285349002

2 SubmittersRCV003466759 RCV003779160

NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)

SNV
Unknown

Chr12:88118537

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385978956

rs_77818876

1 SubmittersRCV003466760

NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)

SNV
Unknown

Chr12:88130353

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385986347

rs_2501502246

1 SubmittersRCV003466762

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

SNV
Unknown

Chr12:88140955

Pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385989722

rs_758593134

1 SubmittersRCV003466768

NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)

SNV
Germline

Chr12:88120170

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA385979889

rs_1340148485

2 SubmittersRCV003797790 RCV005407252

NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)

SNV
Germline

Chr12:88093770

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA481077248

rs_2500269301

1 SubmittersRCV003782818

NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)

SNV
Germline

Chr12:88080316

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385991360

rs_2499911513

1 SubmittersRCV003785277

NM_025114.4(CEP290):c.3309+16T>G

SNV
Germline

Chr12:88093754

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606675736

rs_1400483491

2 SubmittersRCV003781036 RCV005013180

NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)

SNV
Germline

Chr12:88055620

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385976221

rs_2499470143

1 SubmittersRCV003783591

NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr12:88093814

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386005923

rs_2500271417

1 SubmittersRCV003783592

NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)

SNV
Germline

Chr12:88106797

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385971165

rs_2500618622

1 SubmittersRCV003783593

NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)

SNV
Germline

Chr12:88107004

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385971741

rs_2500627820

1 SubmittersRCV003783594

NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)

SNV
Germline

Chr12:88141030

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA241168621

rs_868347260

1 SubmittersRCV003783595

NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)

SNV
Germline

Chr12:88083053

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992693

rs_2499955544

2 SubmittersRCV003793188 RCV004573319

NM_025114.4(CEP290):c.2052+1G>A

SNV
Germline

Chr12:88114419

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385976715

rs_2038915208

3 SubmittersRCV005003714 RCV003793380 RCV004573320

NM_025114.4(CEP290):c.1360-1G>C

SNV
Germline

Chr12:88120277

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980285

rs_2501054131

2 SubmittersRCV003779392 RCV005003707

NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)

SNV
Germline

Chr12:88111311

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385974663

rs_2500744133

2 SubmittersRCV003780009 RCV004796843

NM_025114.4(CEP290):c.669+15A>G

SNV
Germline

Chr12:88130253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606454199

rs_1165909730

2 SubmittersRCV003789091 RCV005003709

NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)

SNV
Germline

Chr12:88080322

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385991385

rs_2036106218

1 SubmittersRCV003787549

NM_025114.4(CEP290):c.298-15G>A

SNV
Germline

Chr12:88136801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712837

rs_756197493

2 SubmittersRCV003787834 RCV005013178

NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)

SNV
Germline

Chr12:88084729

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385995411

rs_1475658217

1 SubmittersRCV003787889

NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)

SNV
Germline

Chr12:88064076

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA385979875

rs_2499619599

1 SubmittersRCV003788445

NM_025114.4(CEP290):c.6522+18G>C

SNV
Germline

Chr12:88060812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606675628

rs_1359522025

2 SubmittersRCV003786965 RCV005003710

NM_025114.4(CEP290):c.3103+1G>A

SNV
Germline

Chr12:88096887

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Single Submitter

CA386006783

rs_1592550848

1 SubmittersRCV003785026

NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)

SNV
Germline

Chr12:88083127

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385992862

rs_2499958316

1 SubmittersRCV003807799

NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)

SNV
Germline

Chr12:88084837

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385995666

rs_2499991573

1 SubmittersRCV003808159

NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)

SNV
Germline

Chr12:88118681

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385979284

rs_1325063481

1 SubmittersRCV003806084

NM_025114.4(CEP290):c.2587-1G>A

SNV
Germline

Chr12:88106906

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385971666

rs_1247861318

1 SubmittersRCV003808275

NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)

SNV
Germline

Chr12:88117067

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385978111

rs_2500867184

2 SubmittersRCV005003719 RCV003808415

NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter)

SNV
Germline

Chr12:88109094

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385972651

rs_2137662565

1 SubmittersRCV003791552

NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)

SNV
Germline

Chr12:88089484

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386001394

rs_2500121621

2 SubmittersRCV003791609 RCV005013192

NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr12:88111717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385974857

rs_1438792443

2 SubmittersRCV003805604 RCV005013194

NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter)

SNV
Germline

Chr12:88080187

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385990863

rs_2499907395

1 SubmittersRCV003805799

NM_025114.4(CEP290):c.516+1G>A

SNV
Germline

Chr12:88130544

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712765

rs_779409629

4 SubmittersRCV003805876 RCV004733652 RCV005003718 RCV005407255

NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)

SNV
Germline

Chr12:88068581

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385982153

rs_2499676199

1 SubmittersRCV003805944

NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)

SNV
Germline

Chr12:88077867

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385988981

rs_2499860456

1 SubmittersRCV003803713

NM_025114.4(CEP290):c.2817+1G>T

SNV
Germline

Chr12:88106674

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385970740

rs_2500612408

1 SubmittersRCV003803920

NM_025114.4(CEP290):c.2484-2A>C

SNV
Germline

Chr12:88107100

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385972295

rs_1555217024

1 SubmittersRCV003801538

NM_025114.4(CEP290):c.441+1G>A

SNV
Germline

Chr12:88136642

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987068

rs_1184012636

2 SubmittersRCV003799241 RCV005003716

NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)

SNV
Germline

Chr12:88084714

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385995265

rs_1337146202

1 SubmittersRCV003799416

NM_025114.4(CEP290):c.351T>C (p.Ile117=)

SNV
Germline

Chr12:88136733

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6712824

rs_771707256

3 SubmittersRCV003797651 RCV003889340 RCV005610612

NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter)

SNV
Germline

Chr12:88121124

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385980788

rs_2501098066

1 SubmittersRCV003802842

NM_025114.4(CEP290):c.297+1G>C

SNV
Germline

Chr12:88139144

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385988566

rs_878853360

2 SubmittersRCV003803606 RCV004573329

NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)

SNV
Germline

Chr12:88086092

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385996334

rs_2500009261

1 SubmittersRCV003809160

NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)

SNV
Germline

Chr12:88071882

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385985036

rs_2499744201

3 SubmittersRCV003801218 RCV005013196 RCV005616803

NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)

SNV
Germline

Chr12:88125272

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385981152

rs_2501272074

2 SubmittersRCV003796931 RCV004573326

NM_025114.4(CEP290):c.2052+4A>T

SNV
Germline

Chr12:88114416

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA2575243400

rs_2500813056

1 SubmittersRCV003808673

NM_025114.4(CEP290):c.4704+1G>A

SNV
Germline

Chr12:88084585

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385994326

rs_1565835538

1 SubmittersRCV003808696

NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)

SNV
Germline

Chr12:88106877

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385971529

rs_373341530

2 SubmittersRCV003808930 RCV005254878

NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)

SNV
Germline

Chr12:88083089

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385992779

rs_2499956762

1 SubmittersRCV003807043

NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)

SNV
Germline

Chr12:88106746

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385970942

rs_2500615773

1 SubmittersRCV003804787

NM_025114.4(CEP290):c.5013-1G>A

SNV
Germline

Chr12:88080396

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385991684

rs_2499914261

1 SubmittersRCV003801790

NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter)

SNV
Germline

Chr12:88086154

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385996773

rs_2500011110

1 SubmittersRCV003817703

NM_025114.4(CEP290):c.372A>G (p.Leu124=)

SNV
Germline

Chr12:88136712

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA481054322

rs_2040371763

2 SubmittersRCV003818037 RCV003889342

NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter)

SNV
Germline

Chr12:88083861

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385993223

rs_2499972252

1 SubmittersRCV003801663

NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter)

SNV
Germline

Chr12:88089069

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386000165

rs_2500096910

1 SubmittersRCV003809768

NM_025114.4(CEP290):c.3573+1G>A

SNV
Germline

Chr12:88090727

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386001544

rs_1339320666

1 SubmittersRCV003815557

NM_025114.4(CEP290):c.4812+1G>T

SNV
Germline

Chr12:88083846

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385993102

rs_2137167420

1 SubmittersRCV003812742

NM_025114.4(CEP290):c.7130-1G>A

SNV
Germline

Chr12:88050434

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385973911

rs_2499370007

1 SubmittersRCV003812795

NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)

SNV
Germline

Chr12:88129828

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385985675

rs_2501474958

1 SubmittersRCV003807222

NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter)

SNV
Germline

Chr12:88107028

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385971803

rs_886038694

1 SubmittersRCV003807247

NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter)

SNV
Germline

Chr12:88093793

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA386005831

rs_2500270196

1 SubmittersRCV003805185

NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter)

SNV
Germline

Chr12:88086492

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385997739

rs_2500019381

1 SubmittersRCV003810213

NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr12:88129696

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385984176

rs_2501462993

1 SubmittersRCV003810349

NM_025114.4(CEP290):c.3361G>T (p.Glu1121Ter)

SNV
Germline

Chr12:88092781

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA386004489

rs_2500234504

1 SubmittersRCV003889624

NM_025114.4(CEP290):c.1359+1G>T

SNV
Germline

Chr12:88120996

Likely pathogenic

Leber congenital amaurosis 10

Criteria Provided
Single Submitter

CA385980315

rs_935130451

1 SubmittersRCV003991657

NM_025114.4(CEP290):c.6337A>T (p.Lys2113Ter)

SNV
Unknown

Chr12:88062712

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2499595696

1 SubmittersRCV004575572

NM_025114.4(CEP290):c.619C>T (p.Gln207Ter)

SNV
Unknown

Chr12:88130318

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2501499274

1 SubmittersRCV004575574

NM_025114.4(CEP290):c.1588C>T (p.Gln530Ter)

SNV
Unknown

Chr12:88118678

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2500956859

1 SubmittersRCV004575575

NM_025114.4(CEP290):c.2367+1G>A

SNV
Unknown

Chr12:88111201

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2500736926

1 SubmittersRCV004575576

NM_025114.4(CEP290):c.7165G>T (p.Glu2389Ter)

SNV
Unknown

Chr12:88050398

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2499368392

1 SubmittersRCV004575579

NM_025114.4(CEP290):c.5402T>A (p.Leu1801Ter)

SNV
Unknown

Chr12:88077881

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2035898709

1 SubmittersRCV004575581

NM_025114.4(CEP290):c.844C>T (p.Gln282Ter)

SNV
Unknown

Chr12:88129702

Pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2501463457

1 SubmittersRCV004575582

NM_025114.4(CEP290):c.3462-2A>G

SNV
Unknown

Chr12:88090841

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_1223217246

1 SubmittersRCV004575584

NM_025114.4(CEP290):c.5856-1G>T

SNV
Unknown

Chr12:88071450

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2499731886

1 SubmittersRCV004575586

NM_025114.4(CEP290):c.7240G>T (p.Glu2414Ter)

SNV
Unknown

Chr12:88049384

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_1233939358

1 SubmittersRCV004575589

NM_025114.4(CEP290):c.3461+2T>G

SNV
Unknown

Chr12:88092679

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_779865400

1 SubmittersRCV004575590

NM_025114.4(CEP290):c.3664G>T (p.Glu1222Ter)

SNV
Unknown

Chr12:88089397

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_770015278

1 SubmittersRCV004575592

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

SNV
Unknown

Chr12:88092680

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_766952056

1 SubmittersRCV004575593

NM_025114.4(CEP290):c.7003C>T (p.Gln2335Ter)

SNV
Unknown

Chr12:88054371

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_1474521702

1 SubmittersRCV004575594

NM_025114.4(CEP290):c.7035-1G>T

SNV
Unknown

Chr12:88053747

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2499429479

1 SubmittersRCV004575595

NM_025114.4(CEP290):c.3016C>T (p.Gln1006Ter)

SNV
Unknown

Chr12:88096975

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_1201691161

1 SubmittersRCV004575601

NM_025114.4(CEP290):c.1360-2A>C

SNV
Unknown

Chr12:88120278

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2501054222

1 SubmittersRCV004575614

NM_025114.4(CEP290):c.5674G>T (p.Val1892Leu)

SNV
Germline

Chr12:88077257

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817438

NM_025114.4(CEP290):c.3310-1G>C

SNV
Germline

Chr12:88092833

Pathogenic

Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Single Submitter

2 SubmittersRCV004817453 RCV005610694

NM_025114.4(CEP290):c.982C>T (p.Gln328Ter)

SNV
Germline

Chr12:88126399

Pathogenic

Leber congenital amaurosis 10
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005254918 RCV004818783

NM_025114.4(CEP290):c.5364+1G>A

SNV
Germline

Chr12:88079091

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004596667 RCV005006455

NM_025114.4(CEP290):c.5187G>T (p.Arg1729=)

SNV
Germline

Chr12:88080221

Conflicting classifications of pathogenicity

CEP290-related disorder
Leber congenital amaurosis

No Assertion Criteria Provided

2 SubmittersRCV004724412 RCV005618375

NM_025114.4(CEP290):c.6964A>T (p.Lys2322Ter)

SNV
Germline

Chr12:88054410

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005390

NM_025114.4(CEP290):c.6960+1G>A

SNV
Germline

Chr12:88055575

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011623

NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)

SNV
Germline

Chr12:88060838

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005397

NM_025114.4(CEP290):c.6358-2A>C

SNV
Germline

Chr12:88060996

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011635

NM_025114.4(CEP290):c.6270+1G>A

SNV
Germline

Chr12:88063980

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005399

NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)

SNV
Germline

Chr12:88071424

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005403

NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)

SNV
Germline

Chr12:88071901

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005404

NM_025114.4(CEP290):c.5710-2A>G

SNV
Germline

Chr12:88071928

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005405

NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)

SNV
Germline

Chr12:88077272

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005011643 RCV005218404

NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)

SNV
Germline

Chr12:88080283

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011646

NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)

SNV
Germline

Chr12:88083086

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011651

NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)

SNV
Germline

Chr12:88089472

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005424

NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)

SNV
Germline

Chr12:88093879

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011670

NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)

SNV
Germline

Chr12:88106773

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011676

NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)

SNV
Germline

Chr12:88111302

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011682

NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)

SNV
Germline

Chr12:88118483

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011688

NM_025114.4(CEP290):c.1624-1G>C

SNV
Germline

Chr12:88118571

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005441

NM_025114.4(CEP290):c.566C>G (p.Ser189Ter)

SNV
Germline

Chr12:88130371

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005453

NM_025114.4(CEP290):c.6502C>T (p.Gln2168Ter)

SNV
Germline

Chr12:88060850

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005211145

NM_025114.4(CEP290):c.250+2T>G

SNV
Germline

Chr12:88139493

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005219555

NM_025114.4(CEP290):c.6241C>T (p.Gln2081Ter)

SNV
Germline

Chr12:88064010

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217505

NM_025114.4(CEP290):c.4813-1G>C

SNV
Germline

Chr12:88083231

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217771

NM_025114.4(CEP290):c.4435G>T (p.Glu1479Ter)

SNV
Germline

Chr12:88086041

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005219204

NM_025114.4(CEP290):c.4249C>T (p.Gln1417Ter)

SNV
Germline

Chr12:88086444

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005215066

NM_025114.4(CEP290):c.7209+2T>G

SNV
Germline

Chr12:88050352

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005215480

NM_025114.4(CEP290):c.2587-2A>G

SNV
Germline

Chr12:88106907

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005221259

NM_025114.4(CEP290):c.6985G>T (p.Glu2329Ter)

SNV
Germline

Chr12:88054389

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005212715

NM_025114.4(CEP290):c.5013-2A>C

SNV
Germline

Chr12:88080397

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005212833

NM_025114.4(CEP290):c.20G>A (p.Trp7Ter)

SNV
Germline

Chr12:88141288

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005214059

NM_025114.4(CEP290):c.1820C>A (p.Ser607Ter)

SNV
Germline

Chr12:88117037

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005216439

NM_025114.4(CEP290):c.1024C>T (p.Gln342Ter)

SNV
Germline

Chr12:88126357

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005224910

NM_025114.4(CEP290):c.2818-657T>G

SNV
Germline

Chr12:88103668

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005251010

NM_025114.4(CEP290):c.2848C>T (p.Gln950Ter)

SNV
Germline

Chr12:88102981

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

1 SubmittersRCV005612414

NM_025114.4(CEP290):c.2213T>A (p.Leu738Ter)

SNV
Germline

Chr12:88111698

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

1 SubmittersRCV005615020