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 Meckel-Gruber syndrome Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Retinitis pigmentosa Meckel syndrome, type 6 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 COG7 congenital disorder of glycosylation Abnormality of the nervous system CEP290-related disorder Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	31 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000531295 RCV000515339 RCV001073790 RCV000787813 RCV001261607 RCV001000092 RCV001002714 RCV001276487 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV003147273 RCV004798711
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Retinitis pigmentosa Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Joubert syndrome 5 Joubert syndrome 1 Intellectual disability Leber congenital amaurosis CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV001075828 RCV001196010 RCV000988884 RCV001255341 RCV001831503 RCV001731267 RCV003460403
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Blindness Nystagmus Molar tooth sign on MRI Central hypotonia Condition: not provided not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Senior-Loken syndrome 6 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis CEP290-related disorder CEP290-related ciliopathy Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	21 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV001002715 RCV001046610 RCV001831504 RCV003155008 RCV003492281 RCV003466778 RCV004975257
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Encephalocele Polycystic kidney disease Severe hydrocephalus Leber congenital amaurosis Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003466779 RCV002496228 RCV003887847 RCV004732519
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 Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787812 RCV000787559 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 Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA144391	rs_386834153	9 SubmittersRCV000050147 RCV001091341 RCV001053674 RCV001274137 RCV003466923 RCV004760362 RCV004814991
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	SNV Germline	Chr12:88086456	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder not specified	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000307654 RCV000351974 RCV000402012 RCV000366483 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298 RCV000082249
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227967	rs_62640581	8 SubmittersRCV000086289 RCV001216498 RCV001199210 RCV001831897 RCV002498466 RCV003467011
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	SNV Germline	Chr12:88079219	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Kidney disorder Retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA150915	rs_61941020	18 SubmittersRCV000336982 RCV000292636 RCV000352237 RCV000399104 RCV000407985 RCV000436165 RCV001084256 RCV001826782 RCV002294031 RCV003888506 RCV000114201
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Kidney disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000266641 RCV000262275 RCV000321698 RCV000297299 RCV000361419 RCV000475858 RCV001274128 RCV002294036 RCV002505080
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000279934 RCV000293222 RCV000372128 RCV000337209 RCV000375509 RCV000459124 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	8 SubmittersRCV000124248 RCV000267777 RCV000259368 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV001812002 RCV002294038
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 1 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Retinal dystrophy Leber congenital amaurosis 10 Joubert syndrome 5 not specified Meckel syndrome, type 4 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000132681 RCV000988879 RCV001109949 RCV001109950 RCV001272010 RCV003888568 RCV000490488 RCV001110732 RCV000193732 RCV001110731 RCV001083794
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	6 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003467201 RCV003387770 RCV003888575
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)	SNV Germline	Chr12:88086443	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000390170 RCV004528881 RCV000763864 RCV000373904 RCV001245512 RCV001279535 RCV002516071
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided CEP290-related disorder Joubert syndrome 5 Inborn genetic diseases Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV004528882 RCV001110739 RCV003298162 RCV001079764 RCV001110738 RCV001110740 RCV001818343 RCV001109956 RCV001110741
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Condition: not provided Joubert syndrome 1 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Leber congenital amaurosis Atypical hemolytic-uremic syndrome not specified Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	16 SubmittersRCV001110567 RCV001110568 RCV001110569 RCV004815226 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001275040 RCV002294046 RCV000152980 RCV001110570
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	SNV Germline	Chr12:88060951	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Intellectual disability Bardet-Biedl syndrome 14 Leber congenital amaurosis Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV001114077 RCV001114078 RCV001114079 RCV001252445 RCV001114081 RCV001272012 RCV000224947 RCV001082043 RCV001114080
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000399776 RCV000291841 RCV000346891 RCV000400108 RCV000344957 RCV001085341 RCV003888583
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV000835406 RCV001084413 RCV001112003 RCV001112004 RCV001112005 RCV001112002 RCV001112006
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	SNV Germline	Chr12:88102849	Conflicting classifications of pathogenicity	Condition: not provided not specified Joubert syndrome 5 Senior-Loken syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis CEP290-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	11 SubmittersRCV000176690 RCV000192651 RCV000660467 RCV001113515 RCV001082205 RCV001113514 RCV001111528 RCV001111529 RCV001275025 RCV004528939 RCV004816280
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	SNV Germline	Chr12:88089407	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	10 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864 RCV004816287
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000268862 RCV000265423 RCV000320490 RCV000364677 RCV000328615 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 6 Familial aplasia of the vermis 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 10 Meckel syndrome, type 4 Joubert syndrome 5 Retinal dystrophy not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV000179537 RCV001112634 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636 RCV003488430 RCV004539683
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	SNV Germline	Chr12:88086450	Likely pathogenic	Senior-Loken syndrome 6 Bardet-Biedl syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5	No Assertion Criteria Provided	CA347348	rs_797044604	1 SubmittersRCV000192446
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	7 SubmittersRCV000201766 RCV000763310 RCV001058542 RCV000598977 RCV003468923 RCV004732784
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Blindness Global developmental delay Condition: not provided Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Cystic renal dysplasia Occipital encephalocele Leber congenital amaurosis Bardet-Biedl syndrome 14 Retinal dystrophy Inborn genetic diseases CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	12 SubmittersRCV000414892 RCV000493605 RCV000201672 RCV000806654 RCV000763311 RCV000626966 RCV001271568 RCV003462354 RCV004816347 RCV002519581 RCV004732783
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Condition: not provided Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	14 SubmittersRCV000521437 RCV000201597 RCV001036850 RCV002250594 RCV002485329 RCV001828040 RCV003468926 RCV003155122 RCV004816349
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Leber congenital amaurosis 10 Occipital encephalocele Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	16 SubmittersRCV000201563 RCV001002937 RCV000502726 RCV000763314 RCV000816913 RCV001529566 RCV001589085 RCV001030764 RCV003468919 RCV004732782
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279529	rs_863225186	4 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)	SNV Germline	Chr12:88130283	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279451	rs_863225185	4 SubmittersRCV000201653 RCV000503197 RCV003159108 RCV002519580
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	7 SubmittersRCV000224686 RCV000244417 RCV001109951 RCV001518146 RCV001109952 RCV001109954 RCV001109953 RCV001109955 RCV004529386
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic	Retinal dystrophy Bardet-Biedl syndrome 14 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis 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	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV003463626 RCV001389936 RCV000522611 RCV001274126 RCV002500754 RCV004532829
NM_025114.4(CEP290):c.297+1G>T	SNV Germline	Chr12:88139144	Pathogenic	Retinal dystrophy Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Condition: not provided Leber congenital amaurosis Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA10581686	rs_878853360	6 SubmittersRCV000225517 RCV001223284 RCV003469116 RCV001782716 RCV001833239 RCV003155133
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)	SNV Germline	Chr12:88055666	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	3 SubmittersRCV000226860 RCV001109944 RCV001109946 RCV001109945 RCV001109947 RCV001109948 RCV004725118
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711827	rs_371582975	4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	SNV Germline	Chr12:88107031	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712316	rs_764963626	7 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	SNV Germline	Chr12:88077777	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Condition: not provided Senior-Loken syndrome 6 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV001828148
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	SNV Germline	Chr12:88083853	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711863	rs_201614215	8 SubmittersRCV000243671 RCV000270848 RCV000283968 RCV000328558 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	SNV Germline	Chr12:88118708	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712524	rs_147371999	8 SubmittersRCV000254461 RCV001113718 RCV001113719 RCV001086907 RCV001109702 RCV001109701 RCV001109703 RCV001572697
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001113799 RCV001275038 RCV001311004
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr12:88114536	Pathogenic	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Condition: not provided Joubert syndrome 5 Retinal dystrophy Leber congenital amaurosis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000636991 RCV000313260 RCV001199213 RCV001075417 RCV001833301 RCV003463734 RCV002500965
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	SNV Germline	Chr12:88125343	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 not specified Meckel syndrome, type 4 Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases Leber congenital amaurosis Retinitis pigmentosa Condition: not provided Kidney disorder Stuve-Wiedemann syndrome 2	Criteria Provided Conflicting Classifications	CA6712623	rs_201988582	14 SubmittersRCV000280320 RCV000320212 RCV000342452 RCV000354111 RCV000374721 RCV000396707 RCV000637003 RCV000714822 RCV001265795 RCV001275039 RCV001589313 RCV001580478 RCV002294212 RCV003319345
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome CEP290-related disorder Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Joubert syndrome 5 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV001380938 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV004816477
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	SNV Germline	Chr12:88084814	Conflicting classifications of pathogenicity	not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113143 RCV001114512 RCV001114513 RCV001113144 RCV001113145 RCV001697702
NM_025114.4(CEP290):c.4437+1G>A	SNV Germline	Chr12:88086038	Pathogenic/Likely pathogenic	Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided CEP290-related disorder Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	9 SubmittersRCV000473837 RCV000498064 RCV000779117 RCV000763313 RCV001271571
NM_025114.4(CEP290):c.6645+1G>A	SNV Germline	Chr12:88059897	Conflicting classifications of pathogenicity	Joubert syndrome 5 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel syndrome, type 4 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 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711459	rs_201218801	10 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	SNV Germline	Chr12:88087887	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Joubert syndrome 5 Kidney disorder Bardet-Biedl syndrome 14 Retinal dystrophy CEP290-related disorder Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712028	rs_181121175	8 SubmittersRCV000389733 RCV000345714 RCV000400374 RCV001273074 RCV000288370 RCV002294263 RCV000291084 RCV003888722 RCV004537751 RCV000548918 RCV001085312
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	SNV Germline	Chr12:88118717	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Condition: not provided Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712526	rs_752942122	3 SubmittersRCV000360538 RCV000728042 RCV000305920 RCV000335728 RCV000398619 RCV000299546 RCV001079199
NM_025114.4(CEP290):c.-41C>T	SNV Germline	Chr12:88141913	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 not specified Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA10633653	rs_759820573	3 SubmittersRCV000281237 RCV000338378 RCV000422198 RCV000330322 RCV000372028 RCV000387258 RCV004537755
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	SNV Germline	Chr12:88049259	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6711281	rs_765709669	3 SubmittersRCV000339178 RCV000401265 RCV001410302 RCV000280658 RCV004537747 RCV000286608 RCV000378693
NM_025114.4(CEP290):c.7209+7T>G	SNV Germline	Chr12:88050347	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Senior-Loken syndrome 6 Condition: not provided Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711328	rs_745813087	3 SubmittersRCV000323734 RCV000270876 RCV001409432 RCV000322071 RCV000283328 RCV000729391 RCV000380635
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	SNV Germline	Chr12:88071872	Conflicting classifications of pathogenicity	Joubert syndrome 5 not specified Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6711648	rs_746949236	3 SubmittersRCV000391502 RCV000603796 RCV000339249 RCV000303118 RCV000398921 RCV000347524 RCV001341200
NM_025114.4(CEP290):c.3574-15T>A	SNV Germline	Chr12:88089502	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712114	rs_565414938	2 SubmittersRCV000272452 RCV000267083 RCV001513375 RCV000378166 RCV000321121 RCV000324529
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr12:88111737	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Retinal dystrophy Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 CEP290-related disorder Senior-Loken syndrome 6 Microcephaly Condition: not provided Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712389	rs_375038986	8 SubmittersRCV000371328 RCV000365084 RCV000307295 RCV000861492 RCV003888723 RCV002467728 RCV004732842 RCV000310425 RCV001252733 RCV001562789 RCV000400672
NM_025114.4(CEP290):c.54G>A (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA10638700	rs_886049885	2 SubmittersRCV000295236 RCV000352716 RCV000325527 RCV001421212 RCV000382505 RCV000386249
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	SNV Germline	Chr12:88050377	Conflicting classifications of pathogenicity	Joubert syndrome 5 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 not specified Retinal dystrophy Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6711331	rs_189556433	7 SubmittersRCV000374397 RCV000465588 RCV000335271 RCV001700050 RCV003888721 RCV000282628 RCV000295385 RCV001276480 RCV001545810 RCV000400288
NM_025114.4(CEP290):c.5709+12A>G	SNV Germline	Chr12:88077210	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6711673	rs_371010287	2 SubmittersRCV000259439 RCV000300620 RCV000355216 RCV002056336 RCV000304102 RCV000354211
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	SNV Germline	Chr12:88087823	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 CEP290-related disorder not specified Bardet-Biedl syndrome 14 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6712022	rs_143152287	5 SubmittersRCV000268181 RCV000360821 RCV000303676 RCV001347081 RCV000316272 RCV004732840 RCV000603267 RCV000354663 RCV001273072
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 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Retinal dystrophy Condition: not provided Leber congenital amaurosis Retinitis pigmentosa Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712084	rs_139998038	11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001074452 RCV001555535 RCV001273076 RCV001590930 RCV002520840 RCV004544543
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	SNV Germline	Chr12:88106876	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 not specified Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712296	rs_776360559	4 SubmittersRCV000282243 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV000337086 RCV000350122 RCV004544544
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	SNV Germline	Chr12:88115099	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712437	rs_199747962	5 SubmittersRCV000311480 RCV000860718 RCV001833458 RCV000351341 RCV002467729 RCV002461069 RCV000315150 RCV000390499 RCV000357069
NM_025114.4(CEP290):c.-33G>T	SNV Germline	Chr12:88141905	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10642542	rs_139415563	2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV000402356 RCV001642965
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)	SNV Germline	Chr12:88086400	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6711985	rs_377614744	3 SubmittersRCV000376492 RCV000869776 RCV000328955 RCV000271533 RCV004537749 RCV000306869 RCV000363839
NM_025114.4(CEP290):c.1623+10G>T	SNV Germline	Chr12:88118633	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712516	rs_377529198	2 SubmittersRCV000327713 RCV000287480 RCV000272744 RCV000981128 RCV000376587 RCV000382304
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	SNV Germline	Chr12:88130558	Conflicting classifications of pathogenicity	Joubert syndrome 5 Retinitis pigmentosa Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Meckel syndrome, type 4 not specified Retinal dystrophy Leber congenital amaurosis 10 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712768	rs_200063017	7 SubmittersRCV000263394 RCV000787814 RCV000637006 RCV001275046 RCV000373256 RCV000355828 RCV003330639 RCV003888725 RCV000316286 RCV004537752 RCV000285505
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	SNV Germline	Chr12:88130414	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Intellectual disability Leber congenital amaurosis CEP290-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712745	rs_202159966	8 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001109869 RCV001109866 RCV001109867 RCV001110658 RCV001252443 RCV001275045 RCV004530521 RCV004816652
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	SNV Germline	Chr12:88059914	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711461	rs_371833544	6 SubmittersRCV000417476 RCV000765111 RCV001276484 RCV001245037 RCV003889881
NM_025114.4(CEP290):c.1360-4T>G	SNV Germline	Chr12:88120280	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712563	rs_200328638	4 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	SNV Germline	Chr12:88117128	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712482	rs_201295052	8 SubmittersRCV000733432 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899 RCV001084047
NM_025114.4(CEP290):c.1910-11T>G	SNV Germline	Chr12:88114573	Pathogenic	Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA658656314	rs_1555220638	3 SubmittersRCV000515679 RCV003470596 RCV004800425
NM_025114.4(CEP290):c.4813-2A>G	SNV Germline	Chr12:88083232	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Retinal dystrophy Leber congenital amaurosis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome 5 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711850	rs_369523378	11 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071
NM_025114.4(CEP290):c.1066-1G>A	SNV Germline	Chr12:88125370	Pathogenic	not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber 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	CA241154824	rs_965522059	5 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	SNV Germline	Chr12:88114557	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977034	rs_1555220625	6 SubmittersRCV000519595 RCV001058827 RCV003155226 RCV003470660 RCV002497033
NM_025114.4(CEP290):c.6358-1G>A	SNV Germline	Chr12:88060995	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711506	rs_766670248	4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742
NM_025114.4(CEP290):c.384T>C (p.Asp128=)	SNV Germline	Chr12:88136700	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712816	rs_76267039	4 SubmittersRCV000550067 RCV001112627 RCV001112629 RCV001112628 RCV001110659 RCV001110660 RCV001821528 RCV003889921
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)	SNV Germline	Chr12:88060960	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 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.180+1G>A	SNV Germline	Chr12:88140955	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Condition: not provided Retinitis pigmentosa Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA6712897	rs_758593134	7 SubmittersRCV000542843 RCV000787558 RCV001091342 RCV001199655 RCV002289749 RCV002497107
NM_025114.4(CEP290):c.5012+2T>C	SNV Germline	Chr12:88083029	Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385992634	rs_1369768287	6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)	SNV Germline	Chr12:88058868	Pathogenic	Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Kidney disorder CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711432	rs_760540562	7 SubmittersRCV000596012 RCV000636987 RCV002294351 RCV002282253 RCV002250666 RCV002506412 RCV003459464
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)	SNV Germline	Chr12:88120207	Pathogenic/Likely pathogenic	Condition: not provided Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 CEP290-related disorder Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385980064	rs_1170451277	5 SubmittersRCV000627200 RCV000763316 RCV000779118 RCV000814304 RCV003465363
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)	SNV Germline	Chr12:88125357	Pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Leber congenital amaurosis Condition: not provided Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712624	rs_776645403	8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV003459522 RCV004732982
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)	SNV Germline	Chr12:88130553	Pathogenic	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Retinal dystrophy Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Inborn genetic diseases Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_772170760	6 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002499260 RCV002536346 RCV003465619
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)	SNV Germline	Chr12:88109070	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_201569048	7 SubmittersRCV000689950 RCV001115045 RCV001115042 RCV001115041 RCV001115043 RCV001115044 RCV001829910 RCV001756171 RCV002477547 RCV004026344 RCV004527741
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)	SNV Germline	Chr12:88111318	Pathogenic	Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Condition: not provided Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_753884599	6 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647 RCV004817947
NM_025114.4(CEP290):c.5587-1G>C	SNV Germline	Chr12:88077345	Pathogenic	Leber congenital amaurosis Retinal dystrophy Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		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 Familial aplasia of the vermis Nephronophthisis Joubert syndrome 1 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 Retinitis pigmentosa CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_778030031	6 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535 RCV004733054
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)	SNV Germline	Chr12:88118549	Pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts		rs_760415289	9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV002487758 RCV003467439 RCV004733051 RCV004818045
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)	SNV Germline	Chr12:88083854	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis Bardet-Biedl syndrome 14 Retinal dystrophy CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369451049	7 SubmittersRCV001244303 RCV001000093 RCV001830860 RCV003448352 RCV003889992 RCV004538167 RCV004029250
NM_025114.4(CEP290):c.2456A>T (p.Gln819Leu)	SNV Germline	Chr12:88109093	Likely pathogenic	Meckel syndrome, type 4	Criteria Provided Single Submitter		rs_1209421607	1 SubmittersRCV001000094
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)	SNV Germline	Chr12:88080244	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_375817905	5 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)	SNV Germline	Chr12:88111821	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_200454865	7 SubmittersRCV000860704 RCV001111807 RCV001112276 RCV001111804 RCV001111805 RCV001111806 RCV001275033 RCV001546810 RCV004538174
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)	SNV Germline	Chr12:88077862	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis	Criteria Provided Conflicting Classifications		rs_370464321	3 SubmittersRCV000868428 RCV001114240 RCV001114242 RCV001112881 RCV001112880 RCV001114241 RCV001273057
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)	SNV Germline	Chr12:88080281	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 CEP290-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_757738553	4 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110312 RCV001110314 RCV001110313 RCV004538287 RCV004797884
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)	SNV Germline	Chr12:88102956	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_546463648	4 SubmittersRCV000868237 RCV001113520 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV004540210
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)	SNV Germline	Chr12:88106854	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis Kidney disorder Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_147362398	6 SubmittersRCV000864755 RCV001111623 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001275029 RCV002294390 RCV003889993 RCV004538226
NM_025114.4(CEP290):c.6358-5C>T	SNV Germline	Chr12:88060999	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Leber congenital amaurosis Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_372986399	4 SubmittersRCV000915534 RCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001272014 RCV001114082 RCV004533513
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)	SNV Germline	Chr12:88130309	Pathogenic/Likely pathogenic	Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_763473957	3 SubmittersRCV002286795 RCV004569838 RCV000994957
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)	SNV Germline	Chr12:88129717	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_45502896	4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577
NM_025114.4(CEP290):c.297+1G>A	SNV Germline	Chr12:88139144	Pathogenic	Leber congenital amaurosis 10 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome 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		rs_878853360	3 SubmittersRCV001029956 RCV001380322 RCV002479228
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)	SNV Germline	Chr12:88111263	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_199583200	5 SubmittersRCV001057249 RCV001111727 RCV001111723 RCV001111725 RCV001111724 RCV001111726 RCV001562596 RCV001832517 RCV004536115
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)	SNV Germline	Chr12:88136717	Pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_770126103	5 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003462577 RCV003228800
NM_025114.4(CEP290):c.1624-5T>G	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications		rs_142742071	3 SubmittersRCV001064972 RCV001827420 RCV002468139
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)	SNV Germline	Chr12:88109135	Pathogenic/Likely pathogenic	Retinal dystrophy Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts		rs_762633090	5 SubmittersRCV001075311 RCV001243657 RCV001836118 RCV003469278 RCV003331040
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)	SNV Germline	Chr12:88141306	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Retinal dystrophy CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_368984997	5 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004813738 RCV004536141
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)	SNV Germline	Chr12:88071822	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications		rs_752046733	2 SubmittersRCV001112803 RCV001462557 RCV001112804 RCV001112805 RCV001112806 RCV001112807
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)	SNV Germline	Chr12:88077324	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications		rs_777353443	2 SubmittersRCV001110125 RCV001110126 RCV001110127 RCV001110129 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 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications		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 Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_200587974	6 SubmittersRCV001109863 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV001109864 RCV001109865 RCV001113893 RCV003227912 RCV004538332
NM_025114.4(CEP290):c.54G>C (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications		rs_886049885	2 SubmittersRCV001112728 RCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001502187
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	SNV Germline	Chr12:88089250	Pathogenic	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Bardet-Biedl syndrome 14 Leber congenital amaurosis Condition: not provided Meckel syndrome, type 4 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_1412133967	10 SubmittersRCV001222226 RCV002283532 RCV001828771 RCV001529282 RCV004546619 RCV004813908
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)	SNV Germline	Chr12:88093839	Pathogenic/Likely pathogenic	Familial aplasia of the vermis 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 Multiple Submitters No Conflicts		rs_886042467	2 SubmittersRCV001237935 RCV002504334
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)	SNV Germline	Chr12:88054359	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Bardet-Biedl syndrome 14 Condition: not provided Leber congenital amaurosis Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Retinal dystrophy CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200969981	10 SubmittersRCV001243915 RCV004577955 RCV001354642 RCV001835188 RCV002480820 RCV004813996 RCV004538510 RCV004609704
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)	SNV Germline	Chr12:88071420	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_562477272	6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)	SNV Germline	Chr12:88121121	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_189280108	6 SubmittersRCV001244829 RCV001835216 RCV002504354 RCV004538514 RCV004720814 RCV004978200
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)	SNV Germline	Chr11:125097716	Likely pathogenic	Familial aplasia of the vermis Meckel syndrome, type 4 Joubert syndrome 39	Criteria Provided Single Submitter		rs_141744337	3 SubmittersRCV001263490 RCV001263493 RCV001729826
NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter)	SNV Germline	Chr11:125101239	Pathogenic	Meckel syndrome, type 4	No Assertion Criteria Provided		rs_758805438	1 SubmittersRCV001263492
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	SNV Germline	Chr12:88049300	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts		rs_1374014119	2 SubmittersRCV001384498 RCV002493927
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)	SNV Germline	Chr12:88087884	Pathogenic	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Condition: not provided CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_779645669	5 SubmittersRCV001381486 RCV001836389 RCV002476720 RCV003156344 RCV004733280
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)	SNV Unknown	Chr12:88096906	Likely pathogenic	Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Single Submitter		rs_2137423759	1 SubmittersRCV001535856
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)	SNV Germline	Chr12:88129834	Pathogenic	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2138086844	5 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860 RCV004782757
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)	SNV Germline	Chr12:88050365	Pathogenic/Likely pathogenic	CEP290-related disorder Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_1478582091	4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936
NM_025114.4(CEP290):c.102+2T>G	SNV Germline	Chr12:88141204	Likely pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_763226787	5 SubmittersRCV002027685 RCV002498073 RCV003226528 RCV003471280
NM_025114.4(CEP290):c.1359+1G>A	SNV Germline	Chr12:88120996	Likely pathogenic	Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_935130451	3 SubmittersRCV002017506 RCV002507780 RCV003471253
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)	SNV Germline	Chr12:88111311	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003780009 RCV004796843

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

SNV
Germline

Chr12:88077263

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

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

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

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

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

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

SNV
Germline

Chr12:88083936

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

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

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

SNV
Germline

Chr12:88130324

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003466779 RCV002496228 RCV003887847 RCV004732519

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787812 RCV000787559 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
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA144391

rs_386834153

9 SubmittersRCV000050147 RCV001091341 RCV001053674 RCV001274137 RCV003466923 RCV004760362 RCV004814991

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

SNV
Germline

Chr12:88086456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000307654 RCV000351974 RCV000402012 RCV000366483 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298 RCV000082249

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

SNV
Germline

Chr12:88089247

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227967

rs_62640581

8 SubmittersRCV000086289 RCV001216498 RCV001199210 RCV001831897 RCV002498466 RCV003467011

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

SNV
Germline

Chr12:88079219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150915

rs_61941020

18 SubmittersRCV000336982 RCV000292636 RCV000352237 RCV000399104 RCV000407985 RCV000436165 RCV001084256 RCV001826782 RCV002294031 RCV003888506 RCV000114201

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000266641 RCV000262275 RCV000321698 RCV000297299 RCV000361419 RCV000475858 RCV001274128 RCV002294036 RCV002505080

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

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000279934 RCV000293222 RCV000372128 RCV000337209 RCV000375509 RCV000459124 RCV001271579 RCV001812001 RCV002294037

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

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

8 SubmittersRCV000124248 RCV000267777 RCV000259368 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV001812002 RCV002294038

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

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

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

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

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

6 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003467201 RCV003387770 RCV003888575

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

SNV
Germline

Chr12:88086443

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

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

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

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV004528882 RCV001110739 RCV003298162 RCV001079764 RCV001110738 RCV001110740 RCV001818343 RCV001109956 RCV001110741

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

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

16 SubmittersRCV001110567 RCV001110568 RCV001110569 RCV004815226 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001275040 RCV002294046 RCV000152980 RCV001110570

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

SNV
Germline

Chr12:88060951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV001114077 RCV001114078 RCV001114079 RCV001252445 RCV001114081 RCV001272012 RCV000224947 RCV001082043 RCV001114080

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

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000399776 RCV000291841 RCV000346891 RCV000400108 RCV000344957 RCV001085341 RCV003888583

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

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV000835406 RCV001084413 RCV001112003 RCV001112004 RCV001112005 RCV001112002 RCV001112006

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

SNV
Germline

Chr12:88102849

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

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

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

SNV
Germline

Chr12:88089407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944

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

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

10 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864 RCV004816287

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

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

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

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

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 6
Familial aplasia of the vermis
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 10
Meckel syndrome, type 4
Joubert syndrome 5
Retinal dystrophy
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

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

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

SNV
Germline

Chr12:88086450

Likely pathogenic

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

No Assertion Criteria Provided

CA347348

rs_797044604

1 SubmittersRCV000192446

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

SNV
Germline

Chr12:88079112

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

7 SubmittersRCV000201766 RCV000763310 RCV001058542 RCV000598977 RCV003468923 RCV004732784

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

SNV
Germline

Chr12:88083161

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

12 SubmittersRCV000414892 RCV000493605 RCV000201672 RCV000806654 RCV000763311 RCV000626966 RCV001271568 RCV003462354 RCV004816347 RCV002519581 RCV004732783

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

SNV
Germline

Chr12:88084768

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

14 SubmittersRCV000521437 RCV000201597 RCV001036850 RCV002250594 RCV002485329 RCV001828040 RCV003468926 RCV003155122 RCV004816349

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

SNV
Germline

Chr12:88086083

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

16 SubmittersRCV000201563 RCV001002937 RCV000502726 RCV000763314 RCV000816913 RCV001529566 RCV001589085 RCV001030764 RCV003468919 RCV004732782

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

SNV
Germline

Chr12:88118642

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279529

rs_863225186

4 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922

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

SNV
Germline

Chr12:88130283

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279451

rs_863225185

4 SubmittersRCV000201653 RCV000503197 RCV003159108 RCV002519580

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

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

7 SubmittersRCV000224686 RCV000244417 RCV001109951 RCV001518146 RCV001109952 RCV001109954 RCV001109953 RCV001109955 RCV004529386

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

SNV
Germline

Chr12:88117076

Pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
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

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV003463626 RCV001389936 RCV000522611 RCV001274126 RCV002500754 RCV004532829

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

SNV
Germline

Chr12:88139144

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581686

rs_878853360

6 SubmittersRCV000225517 RCV001223284 RCV003469116 RCV001782716 RCV001833239 RCV003155133

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

SNV
Germline

Chr12:88055666

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

3 SubmittersRCV000226860 RCV001109944 RCV001109946 RCV001109945 RCV001109947 RCV001109948 RCV004725118

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

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711827

rs_371582975

4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415

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

SNV
Germline

Chr12:88107031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712316

rs_764963626

7 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413

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

SNV
Germline

Chr12:88077777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV001828148

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

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000270848 RCV000283968 RCV000328558 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282

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

SNV
Germline

Chr12:88118708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001113718 RCV001113719 RCV001086907 RCV001109702 RCV001109701 RCV001109703 RCV001572697

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

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001113799 RCV001275038 RCV001311004

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

SNV
Germline

Chr12:88114536

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000636991 RCV000313260 RCV001199213 RCV001075417 RCV001833301 RCV003463734 RCV002500965

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

SNV
Germline

Chr12:88125343

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

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

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

SNV
Germline

Chr12:88106770

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV001380938 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV004816477

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

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113143 RCV001114512 RCV001114513 RCV001113144 RCV001113145 RCV001697702

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

SNV
Germline

Chr12:88086038

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000473837 RCV000498064 RCV000779117 RCV000763313 RCV001271571

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

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

10 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606

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

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

8 SubmittersRCV000389733 RCV000345714 RCV000400374 RCV001273074 RCV000288370 RCV002294263 RCV000291084 RCV003888722 RCV004537751 RCV000548918 RCV001085312

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

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000360538 RCV000728042 RCV000305920 RCV000335728 RCV000398619 RCV000299546 RCV001079199

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

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000338378 RCV000422198 RCV000330322 RCV000372028 RCV000387258 RCV004537755

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

SNV
Germline

Chr12:88049259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000339178 RCV000401265 RCV001410302 RCV000280658 RCV004537747 RCV000286608 RCV000378693

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

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000323734 RCV000270876 RCV001409432 RCV000322071 RCV000283328 RCV000729391 RCV000380635

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

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

3 SubmittersRCV000391502 RCV000603796 RCV000339249 RCV000303118 RCV000398921 RCV000347524 RCV001341200

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

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000272452 RCV000267083 RCV001513375 RCV000378166 RCV000321121 RCV000324529

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

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

8 SubmittersRCV000371328 RCV000365084 RCV000307295 RCV000861492 RCV003888723 RCV002467728 RCV004732842 RCV000310425 RCV001252733 RCV001562789 RCV000400672

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000352716 RCV000325527 RCV001421212 RCV000382505 RCV000386249

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

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000374397 RCV000465588 RCV000335271 RCV001700050 RCV003888721 RCV000282628 RCV000295385 RCV001276480 RCV001545810 RCV000400288

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

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000355216 RCV002056336 RCV000304102 RCV000354211

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

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

5 SubmittersRCV000268181 RCV000360821 RCV000303676 RCV001347081 RCV000316272 RCV004732840 RCV000603267 RCV000354663 RCV001273072

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
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

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

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

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV000337086 RCV000350122 RCV004544544

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

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000860718 RCV001833458 RCV000351341 RCV002467729 RCV002461069 RCV000315150 RCV000390499 RCV000357069

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

SNV
Germline

Chr12:88141905

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV000402356 RCV001642965

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

SNV
Germline

Chr12:88086400

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000376492 RCV000869776 RCV000328955 RCV000271533 RCV004537749 RCV000306869 RCV000363839

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

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000327713 RCV000287480 RCV000272744 RCV000981128 RCV000376587 RCV000382304

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

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

7 SubmittersRCV000263394 RCV000787814 RCV000637006 RCV001275046 RCV000373256 RCV000355828 RCV003330639 RCV003888725 RCV000316286 RCV004537752 RCV000285505

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

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

8 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001109869 RCV001109866 RCV001109867 RCV001110658 RCV001252443 RCV001275045 RCV004530521 RCV004816652

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

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV000417476 RCV000765111 RCV001276484 RCV001245037 RCV003889881

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

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

4 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886

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

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899 RCV001084047

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

SNV
Germline

Chr12:88114573

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA658656314

rs_1555220638

3 SubmittersRCV000515679 RCV003470596 RCV004800425

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

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

11 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071

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

SNV
Germline

Chr12:88125370

Pathogenic

not specified
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber 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

CA241154824

rs_965522059

5 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914

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

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV003155226 RCV003470660 RCV002497033

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

SNV
Germline

Chr12:88060995

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742

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

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV000550067 RCV001112627 RCV001112629 RCV001112628 RCV001110659 RCV001110660 RCV001821528 RCV003889921

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

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
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.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV000542843 RCV000787558 RCV001091342 RCV001199655 RCV002289749 RCV002497107

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

SNV
Germline

Chr12:88083029

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334

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

SNV
Germline

Chr12:88058868

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002294351 RCV002282253 RCV002250666 RCV002506412 RCV003459464

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

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000763316 RCV000779118 RCV000814304 RCV003465363

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

SNV
Germline

Chr12:88125357

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV003459522 RCV004732982

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

SNV
Germline

Chr12:88130553

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_772170760

6 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002499260 RCV002536346 RCV003465619

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

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201569048

7 SubmittersRCV000689950 RCV001115045 RCV001115042 RCV001115041 RCV001115043 RCV001115044 RCV001829910 RCV001756171 RCV002477547 RCV004026344 RCV004527741

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

SNV
Germline

Chr12:88111318

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753884599

6 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647 RCV004817947

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

SNV
Germline

Chr12:88077345

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_778030031

6 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535 RCV004733054

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

SNV
Germline

Chr12:88118549

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760415289

9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV002487758 RCV003467439 RCV004733051 RCV004818045

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

SNV
Germline

Chr12:88083854

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Retinal dystrophy
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369451049

7 SubmittersRCV001244303 RCV001000093 RCV001830860 RCV003448352 RCV003889992 RCV004538167 RCV004029250

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

SNV
Germline

Chr12:88109093

Likely pathogenic

Meckel syndrome, type 4

Criteria Provided
Single Submitter

rs_1209421607

1 SubmittersRCV001000094

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

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_375817905

5 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193

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

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200454865

7 SubmittersRCV000860704 RCV001111807 RCV001112276 RCV001111804 RCV001111805 RCV001111806 RCV001275033 RCV001546810 RCV004538174

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

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370464321

3 SubmittersRCV000868428 RCV001114240 RCV001114242 RCV001112881 RCV001112880 RCV001114241 RCV001273057

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

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_757738553

4 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110312 RCV001110314 RCV001110313 RCV004538287 RCV004797884

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

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_546463648

4 SubmittersRCV000868237 RCV001113520 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV004540210

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

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_147362398

6 SubmittersRCV000864755 RCV001111623 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001275029 RCV002294390 RCV003889993 RCV004538226

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

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372986399

4 SubmittersRCV000915534 RCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001272014 RCV001114082 RCV004533513

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

SNV
Germline

Chr12:88130309

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_763473957

3 SubmittersRCV002286795 RCV004569838 RCV000994957

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

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_45502896

4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577

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

SNV
Germline

Chr12:88139144

Pathogenic

Leber congenital amaurosis 10
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
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

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

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

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199583200

5 SubmittersRCV001057249 RCV001111727 RCV001111723 RCV001111725 RCV001111724 RCV001111726 RCV001562596 RCV001832517 RCV004536115

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

SNV
Germline

Chr12:88136717

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770126103

5 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003462577 RCV003228800

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

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

SNV
Germline

Chr12:88109135

Pathogenic/Likely pathogenic

Retinal dystrophy
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_762633090

5 SubmittersRCV001075311 RCV001243657 RCV001836118 RCV003469278 RCV003331040

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

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_368984997

5 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004813738 RCV004536141

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

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752046733

2 SubmittersRCV001112803 RCV001462557 RCV001112804 RCV001112805 RCV001112806 RCV001112807

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

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_777353443

2 SubmittersRCV001110125 RCV001110126 RCV001110127 RCV001110129 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
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_200587974

6 SubmittersRCV001109863 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV001109864 RCV001109865 RCV001113893 RCV003227912 RCV004538332

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_886049885

2 SubmittersRCV001112728 RCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001502187

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

SNV
Germline

Chr12:88089250

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1412133967

10 SubmittersRCV001222226 RCV002283532 RCV001828771 RCV001529282 RCV004546619 RCV004813908

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

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
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
Multiple Submitters
No Conflicts

rs_886042467

2 SubmittersRCV001237935 RCV002504334

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

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200969981

10 SubmittersRCV001243915 RCV004577955 RCV001354642 RCV001835188 RCV002480820 RCV004813996 RCV004538510 RCV004609704

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

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524

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

SNV
Germline

Chr12:88121121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_189280108

6 SubmittersRCV001244829 RCV001835216 RCV002504354 RCV004538514 RCV004720814 RCV004978200

NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)

SNV
Germline

Chr11:125097716

Likely pathogenic

Familial aplasia of the vermis
Meckel syndrome, type 4
Joubert syndrome 39

Criteria Provided
Single Submitter

rs_141744337

3 SubmittersRCV001263490 RCV001263493 RCV001729826

NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr11:125101239

Pathogenic

Meckel syndrome, type 4

No Assertion Criteria Provided

rs_758805438

1 SubmittersRCV001263492

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

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1374014119

2 SubmittersRCV001384498 RCV002493927

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

SNV
Germline

Chr12:88087884

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_779645669

5 SubmittersRCV001381486 RCV001836389 RCV002476720 RCV003156344 RCV004733280

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

SNV
Unknown

Chr12:88096906

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2137423759

1 SubmittersRCV001535856

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

SNV
Germline

Chr12:88129834

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138086844

5 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860 RCV004782757

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

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936

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

SNV
Germline

Chr12:88141204

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_763226787

5 SubmittersRCV002027685 RCV002498073 RCV003226528 RCV003471280

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

SNV
Germline

Chr12:88120996

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_935130451

3 SubmittersRCV002017506 RCV002507780 RCV003471253

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

SNV
Germline

Chr12:88111311

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003780009 RCV004796843