Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006642.5(SDCCAG8):c.740+356C>T	SNV Germline	Chr1:243305133	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA251367	rs_397515337	6 SubmittersRCV000000077 RCV000760978 RCV002265541 RCV002476900 RCV004532265
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)	SNV Germline	Chr1:243304716	Pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter	CA251368	rs_267607031	2 SubmittersRCV000000078 RCV003764499
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 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Retinitis pigmentosa Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome 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 Retinal dystrophy Meckel syndrome, type 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	27 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000515339 RCV001000092 RCV001002714 RCV000787813 RCV000531295 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV001073790 RCV001261607 RCV001276487 RCV003147273
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 1 Retinitis pigmentosa Joubert syndrome 5 Retinal dystrophy Intellectual disability CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	24 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000763315 RCV000988884 RCV000678535 RCV001196010 RCV001075828 RCV001255341 RCV001731267 RCV001831503 RCV003460403
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Blindness Central hypotonia Nystagmus Molar tooth sign on MRI Condition: not provided not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Retinal dystrophy CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	19 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001002715 RCV001046610 RCV001075829 RCV003155008 RCV001831504 RCV003466778 RCV003492281
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Severe hydrocephalus Polycystic kidney disease Encephalocele Leber congenital amaurosis Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	9 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001376372 RCV002496228 RCV001042869 RCV001781163 RCV003466779 RCV003887847
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)	SNV Germline	Chr3:121781772	Pathogenic	Senior-Loken syndrome 5 Nephronophthisis Condition: not provided Renal dysplasia and retinal aplasia Retinal dystrophy Inborn genetic diseases IQCB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115214	rs_121918244	12 SubmittersRCV000001904 RCV000230781 RCV000681897 RCV001003059 RCV000505099 RCV003362658 RCV003398416
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter)	SNV Germline	Chr3:121790133	Pathogenic	Senior-Loken syndrome 5	No Assertion Criteria Provided	CA115216	rs_121918245	1 SubmittersRCV000001908
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)	SNV Germline	Chr1:5887436	Pathogenic	Senior-Loken syndrome 4 Nephronophthisis	No Assertion Criteria Provided	CA116188	rs_137852922	2 SubmittersRCV000003573 RCV000234814
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)	SNV Germline	Chr1:5904788	Pathogenic	Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4	Criteria Provided Single Submitter	CA116190	rs_137852923	4 SubmittersRCV000003574 RCV000234826 RCV000735764
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	SNV Germline	Chr4:39231943	Pathogenic	Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided Connective tissue disorder Renal dysplasia and retinal aplasia WDR19-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA199262	rs_387906980	10 SubmittersRCV000023681 RCV000169775 RCV000987440 RCV001047050 RCV001356848 RCV002276570 RCV003324499 RCV004532400
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)	SNV Germline	Chr4:39268040	Pathogenic	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA342746	rs_387906981	3 SubmittersRCV000023682 RCV001857362
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)	SNV Germline	Chr3:121772659	Pathogenic	Senior-Loken syndrome 5 Retinal dystrophy Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA129459	rs_373909351	7 SubmittersRCV000023757 RCV001075299 RCV000800060
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	SNV Germline	Chr3:121790166	Pathogenic	Senior-Loken syndrome 5 Nephronophthisis Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA129461	rs_387907009	6 SubmittersRCV000023758 RCV000462160 RCV000504719
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	10 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002504949 RCV002285263 RCV003460645
NM_001128178.3(NPHP1):c.771+2C>T	SNV Germline	Chr2:110164686	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220570	rs_189320299	5 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	SNV Germline	Chr1:5867883	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 Condition: not provided Kidney disorder Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA223178	rs_139767853	13 SubmittersRCV000081715 RCV000331197 RCV000292444 RCV001093742 RCV001573175 RCV002294019 RCV002498430
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)	SNV Germline	Chr1:5863367	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA148749	rs_35641267	7 SubmittersRCV000081719 RCV000476917 RCV001096418 RCV001098156 RCV001528249 RCV004529858
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	SNV Germline	Chr12:88086456	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000366483 RCV000351974 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 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	CA227967	rs_62640581	7 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	8 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)	SNV Germline	Chr4:39218103	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Nephronophthisis 13 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA151406	rs_587777349	4 SubmittersRCV000115011 RCV001281114 RCV001753491 RCV001854543
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)	SNV Germline	Chr4:39274945	Pathogenic/Likely pathogenic	Nephronophthisis 13 Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72	Criteria Provided Multiple Submitters No Conflicts	CA151410	rs_587777351	6 SubmittersRCV000115013 RCV000788500 RCV001281118 RCV001854544 RCV002477273
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	SNV Germline	Chr4:39273029	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Condition: not provided Cranioectodermal dysplasia Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Leber congenital amaurosis Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA151412	rs_79436363	8 SubmittersRCV000115014 RCV000433622 RCV000754960 RCV000653250 RCV000850617 RCV001262101 RCV003224149 RCV003224150
NM_025132.4(WDR19):c.3565+1G>A	SNV Germline	Chr4:39273062	Pathogenic/Likely pathogenic	Senior-Loken syndrome 8 Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA151414	rs_587777352	8 SubmittersRCV000115015 RCV000516054 RCV000681868 RCV001212609 RCV001797626 RCV002277157
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Kidney disorder Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000266641 RCV000297299 RCV000262275 RCV000321698 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 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000279934 RCV000337209 RCV000375509 RCV000372128 RCV000459124 RCV000293222 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Kidney disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	7 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV002294038 RCV001812002
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Joubert syndrome 1 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001109949 RCV001109950 RCV001110732 RCV001110731 RCV001272010 RCV003888568
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	6 SubmittersRCV000144459 RCV002492522 RCV001384909 RCV003387770 RCV003467201 RCV003888575
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)	SNV Germline	Chr1:243344267	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA234901	rs_118064970	4 SubmittersRCV000153922 RCV001086622 RCV001099560 RCV001099561 RCV004532738
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 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000390170 RCV000373904 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV001110739 RCV001079764 RCV001109956 RCV001110741 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	14 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	SNV Germline	Chr1:5875036	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis Kidney disorder Cholestasis	Criteria Provided Conflicting Classifications	CA333575	rs_183885357	8 SubmittersRCV000153585 RCV000206662 RCV000986223 RCV001098462 RCV001084832 RCV002294050 RCV003447506
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	SNV Germline	Chr12:88060951	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	SNV Germline	Chr2:110178520	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA234415	rs_140446520	8 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)	SNV Germline	Chr3:121790112	Pathogenic	Condition: not provided Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA200804	rs_727503968	4 SubmittersRCV000174030 RCV000707207 RCV002250577
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)	SNV Germline	Chr4:39253208	Conflicting classifications of pathogenicity	not specified Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Connective tissue disorder Inborn genetic diseases WDR19-related disorder	Criteria Provided Conflicting Classifications	CA235263	rs_187546086	11 SubmittersRCV000154140 RCV000278329 RCV000317115 RCV000723861 RCV001083264 RCV002277304 RCV002516102 RCV004532742
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000344957 RCV000399776 RCV000291841 RCV000400108 RCV000346891 RCV001085341 RCV003888583
NM_001023570.4(IQCB1):c.264-2A>T	SNV Germline	Chr3:121826182	Pathogenic	Condition: not provided Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA203031	rs_727503969	3 SubmittersRCV000178818 RCV002514955 RCV004567175
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)	SNV Germline	Chr1:243271024	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA234899	rs_148818431	4 SubmittersRCV000153921 RCV000275041 RCV000330149 RCV000723734 RCV001085093
NM_025132.4(WDR19):c.1845T>C (p.Asn615=)	SNV Germline	Chr4:39228553	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA235261	rs_727504221	2 SubmittersRCV000154139 RCV002056049
NM_025132.4(WDR19):c.203T>A (p.Val68Asp)	SNV Germline	Chr4:39189694	Pathogenic	Senior-Loken syndrome 8	No Assertion Criteria Provided	CA199263	rs_786204852	1 SubmittersRCV000169776
NM_025132.4(WDR19):c.407-2A>G	SNV Germline	Chr4:39199476	Pathogenic	Senior-Loken syndrome 8	No Assertion Criteria Provided	CA199265	rs_374400438	1 SubmittersRCV000169777
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)	SNV Germline	Chr1:5863955	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA235731	rs_369162678	5 SubmittersRCV000171146 RCV000308383 RCV001093794 RCV000346948 RCV002478540
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)	SNV Germline	Chr1:5874542	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA235733	rs_373369949	4 SubmittersRCV000171147 RCV001058651 RCV004535163 RCV002485085
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)	SNV Germline	Chr4:39253193	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13	Criteria Provided Conflicting Classifications	CA236213	rs_751386429	3 SubmittersRCV000171376 RCV002515238 RCV003989482
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	SNV Germline	Chr2:110161690	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA239098	rs_371112962	4 SubmittersRCV000173662 RCV000305677 RCV000390136 RCV000353470 RCV001094562
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)	SNV Germline	Chr2:110161645	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications	CA239100	rs_794726975	3 SubmittersRCV000173663 RCV001852113 RCV002500458
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)	SNV Germline	Chr1:243344238	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA239877	rs_79762798	3 SubmittersRCV000174354 RCV001085070 RCV004539611
NM_001128178.3(NPHP1):c.1270-4C>T	SNV Germline	Chr2:110146839	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA240230	rs_151204566	8 SubmittersRCV000174670 RCV000230927 RCV001128802 RCV001128804 RCV001128803 RCV001699052
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)	SNV Germline	Chr1:5905763	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 not specified	Criteria Provided Conflicting Classifications	CA240343	rs_201903713	5 SubmittersRCV000174775 RCV000261125 RCV000316449 RCV001093920 RCV001698987
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Condition: not provided Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV000835406 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001084413 RCV001112002
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)	SNV Germline	Chr1:5890915	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Kidney disorder Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA334827	rs_148424288	10 SubmittersRCV000175205 RCV000204681 RCV000392070 RCV001573161 RCV002294061 RCV001093856
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)	SNV Germline	Chr1:5890969	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA240913	rs_191913664	9 SubmittersRCV000724060 RCV000986226 RCV001088494 RCV001100471 RCV004537377
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)	SNV Germline	Chr1:5874953	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA242083	rs_116606479	10 SubmittersRCV000261619 RCV000367814 RCV000723970 RCV001093746 RCV004537396
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 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	10 SubmittersRCV000176690 RCV000192651 RCV000660467 RCV001082205 RCV001111528 RCV001111529 RCV001113514 RCV001113515 RCV001275025 RCV004528939
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)	SNV Germline	Chr1:5864423	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA242973	rs_115488133	6 SubmittersRCV000176884 RCV000864161 RCV001099939 RCV001101945 RCV001753581 RCV004537416
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)	SNV Germline	Chr1:5978278	Conflicting classifications of pathogenicity	not specified Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA243432	rs_201065230	9 SubmittersRCV000177288 RCV000723456 RCV000764007 RCV001081496 RCV001097313 RCV001097312
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	SNV Germline	Chr12:88089407	Conflicting classifications of pathogenicity	not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome 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.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000320490 RCV000328615 RCV000364677 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 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV000179537 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV003227695 RCV003888636 RCV003488430 RCV004539683
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)	SNV Germline	Chr1:243308173	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA247688	rs_149359674	3 SubmittersRCV000180303 RCV001078537 RCV004537508
NM_006642.5(SDCCAG8):c.221-2A>G	SNV Germline	Chr1:243270976	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Multiple Submitters No Conflicts	CA209406	rs_797045946	2 SubmittersRCV000194923 RCV000760977
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)	SNV Germline	Chr1:243286332	Pathogenic	Senior-Loken syndrome 7 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA206745	rs_797045947	3 SubmittersRCV000193333 RCV001390072 RCV004530146
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)	SNV Germline	Chr1:243293111	Pathogenic/Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA207867	rs_797045948	4 SubmittersRCV000194004 RCV001731515 RCV002517977 RCV004530147
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)	SNV Germline	Chr1:243378748	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Condition: not provided SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA207762	rs_150646039	4 SubmittersRCV000193940 RCV000873932 RCV001558681 RCV004541252
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_015102.5(NPHP4):c.4114C>T (p.Leu1372=)	SNV Germline	Chr1:5863916	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 not specified	Criteria Provided Conflicting Classifications	CA337751	rs_374146357	6 SubmittersRCV000198249 RCV000407300 RCV000596396 RCV001093793 RCV001699062
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)	SNV Germline	Chr2:110123964	Conflicting classifications of pathogenicity	Nephronophthisis Condition: not provided Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect not specified Inborn genetic diseases Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA336743	rs_780427871	6 SubmittersRCV000196832 RCV000730183 RCV001128696 RCV001135698 RCV001128695 RCV002282034 RCV002517295 RCV002478707
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)	SNV Germline	Chr3:121772575	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 5 not specified Condition: not provided IQCB1-related disorder	Criteria Provided Conflicting Classifications	CA336283	rs_139468837	9 SubmittersRCV000196260 RCV000299620 RCV000351992 RCV001562096 RCV003947644
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	6 SubmittersRCV000201766 RCV000763310 RCV000598977 RCV001058542 RCV003468923
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Blindness Global developmental delay Condition: not provided Occipital encephalocele Cystic renal dysplasia Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	10 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	13 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Occipital encephalocele Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	14 SubmittersRCV000201563 RCV000502726 RCV000816913 RCV000763314 RCV001002937 RCV001030764 RCV001589085 RCV001529566 RCV003468919
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)	SNV Germline	Chr3:121772683	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Senior-Loken syndrome 5 Nephronophthisis IQCB1-related disorder	Criteria Provided Conflicting Classifications	CA348358	rs_140630401	6 SubmittersRCV000519668 RCV000787845 RCV001147493 RCV001082244 RCV003917846
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)	SNV Germline	Chr1:5890953	Conflicting classifications of pathogenicity	Nephronophthisis not specified Senior-Loken syndrome 4 Nephronophthisis 4 Atypical hemolytic-uremic syndrome Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA554238	rs_34248917	7 SubmittersRCV000233672 RCV000248287 RCV000364078 RCV001093858 RCV002294087 RCV003224236
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 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	2 SubmittersRCV000226860 RCV001109948 RCV001109944 RCV001109946 RCV001109945 RCV001109947
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis 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	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis 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_025132.4(WDR19):c.3918-6A>C	SNV Germline	Chr4:39278533	Conflicting classifications of pathogenicity	not specified Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA2892539	rs_199546190	3 SubmittersRCV000239256 RCV000877878 RCV001150826 RCV001144715
NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala)	SNV Germline	Chr2:238328705	Pathogenic	Senior-Loken syndrome 9	No Assertion Criteria Provided	CA10586343	rs_886037896	1 SubmittersRCV000240625
NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter)	SNV Germline	Chr2:238328794	Pathogenic	Senior-Loken syndrome 9 Condition: not provided	Criteria Provided Single Submitter	CA2198069	rs_765903345	2 SubmittersRCV000240637 RCV001854938
NM_015650.4(TRAF3IP1):c.1575+6T>G	SNV Germline	Chr2:238352956	Pathogenic	Senior-Loken syndrome 9	No Assertion Criteria Provided	CA10586344	rs_886037897	1 SubmittersRCV000240622
NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met)	SNV Germline	Chr2:238328704	Pathogenic	Senior-Loken syndrome 9	No Assertion Criteria Provided	CA10586345	rs_886037898	1 SubmittersRCV000240633
NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met)	SNV Germline	Chr2:238320713	Pathogenic	Senior-Loken syndrome 9	No Assertion Criteria Provided	CA10586346	rs_886037899	1 SubmittersRCV000240646
NM_006642.5(SDCCAG8):c.547-4T>G	SNV Germline	Chr1:243293087	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483344	rs_12080579	3 SubmittersRCV000242044 RCV001459481
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)	SNV Germline	Chr1:243316789	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483504	rs_6672843	2 SubmittersRCV000242555 RCV001042143
NM_015102.5(NPHP4):c.4141-11C>T	SNV Germline	Chr1:5863416	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553320	rs_139203183	3 SubmittersRCV000286079 RCV000377961 RCV001522225 RCV004529440
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)	SNV Germline	Chr1:5875098	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA553910	rs_35575973	4 SubmittersRCV000242359 RCV000291890 RCV000386368 RCV000726860 RCV001093848
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)	SNV Germline	Chr4:39216159	Conflicting classifications of pathogenicity	not specified Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA2891795	rs_199765304	4 SubmittersRCV000246087 RCV000302521 RCV000338763 RCV000952547 RCV001753728
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 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000402056 RCV000391752 RCV000514061 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 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis 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 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA6712524	rs_147371999	8 SubmittersRCV000254461 RCV001109701 RCV001109703 RCV001113718 RCV001113719 RCV001109702 RCV001572697 RCV001086907
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001113799 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001275038 RCV001311004
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)	SNV Germline	Chr4:39218060	Pathogenic/Likely pathogenic	Cranioectodermal dysplasia Senior-Loken syndrome 8	No Assertion Criteria Provided	CA10588960	rs_886039814	2 SubmittersRCV000256446 RCV000985142
NM_025132.4(WDR19):c.2363+1G>A	SNV Germline	Chr4:39234876	Pathogenic/Likely pathogenic	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72	Criteria Provided Multiple Submitters No Conflicts	CA10602914	rs_886041912	3 SubmittersRCV000320568 RCV001234299 RCV002494812
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr12:88114536	Pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)	SNV Germline	Chr1:5947199	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Kidney disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA554665	rs_190940697	5 SubmittersRCV000357469 RCV000543369 RCV001100780 RCV001100781 RCV002294211 RCV003409400
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	SNV Germline	Chr12:88125343	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 not specified Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases Leber congenital amaurosis Condition: not provided Kidney disorder Retinitis pigmentosa Stuve-Wiedemann syndrome 2	Criteria Provided Conflicting Classifications	CA6712623	rs_201988582	14 SubmittersRCV000280320 RCV000342452 RCV000320212 RCV000354111 RCV000396707 RCV000374721 RCV000637003 RCV000714822 RCV001265795 RCV001275039 RCV001580478 RCV002294212 RCV001589313 RCV003319345
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	10 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV001380938
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 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113144 RCV001113143 RCV001114512 RCV001114513 RCV001697702
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)	SNV Germline	Chr1:5864374	Conflicting classifications of pathogenicity	Nephronophthisis 4 Condition: not provided Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553411	rs_778306754	4 SubmittersRCV000315514 RCV000353114 RCV000353952 RCV001484563 RCV004543006
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)	SNV Germline	Chr1:243293141	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483357	rs_143407309	6 SubmittersRCV000404550 RCV001087041 RCV001101445 RCV001101444 RCV004535320
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)	SNV Germline	Chr1:5909210	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 not specified Nephronophthisis 4 Senior-Loken syndrome 4 Inborn genetic diseases Nephronophthisis	Criteria Provided Conflicting Classifications	CA554499	rs_372565083	6 SubmittersRCV000343427 RCV000332355 RCV001093815 RCV003151009 RCV002487222 RCV002519168 RCV000277373
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	SNV Germline	Chr3:121828519	Pathogenic	Condition: not provided Leber congenital amaurosis Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA2567498	rs_201405662	7 SubmittersRCV000329866 RCV000504702 RCV001384418 RCV001535872
NM_025114.4(CEP290):c.4437+1G>A	SNV Germline	Chr12:88086038	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	9 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)	SNV Germline	Chr4:39245394	Conflicting classifications of pathogenicity	not specified Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2892155	rs_200266424	4 SubmittersRCV000391331 RCV000756917 RCV001089411 RCV002519250
NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser)	SNV Germline	Chr4:39240278	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892066	rs_199904529	4 SubmittersRCV000274698 RCV002519251 RCV001088018
NM_025132.4(WDR19):c.2715G>A (p.Lys905=)	SNV Germline	Chr4:39245438	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892166	rs_200339331	5 SubmittersRCV000271288 RCV001089412
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)	SNV Germline	Chr1:5905324	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554339	rs_372430727	7 SubmittersRCV000308350 RCV000363050 RCV000400262 RCV001093812 RCV004543090
NM_001128178.3(NPHP1):c.329+1G>A	SNV Germline	Chr2:110178422	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA1827444	rs_376974221	5 SubmittersRCV000351846 RCV001859657 RCV002494861 RCV003469241 RCV003492029
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)	SNV Germline	Chr2:110161604	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Condition: not provided Joubert syndrome with renal defect Nephronophthisis Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827170	rs_140469160	6 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)	SNV Germline	Chr4:39234873	Conflicting classifications of pathogenicity	not specified Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA2892056	rs_200133722	8 SubmittersRCV000286180 RCV000365966 RCV000399917 RCV001085843 RCV001701934 RCV002278307
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)	SNV Germline	Chr1:5952710	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554739	rs_201124357	5 SubmittersRCV000296994 RCV000324865 RCV000377050 RCV001093864 RCV004535409
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)	SNV Germline	Chr2:110163104	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827217	rs_114250691	5 SubmittersRCV000363080 RCV001084490 RCV000765499 RCV004535410
NM_015102.5(NPHP4):c.3168C>T (p.His1056=)	SNV Germline	Chr1:5874534	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA553773	rs_376351293	5 SubmittersRCV000307652 RCV000638102 RCV001100140 RCV001098357 RCV001726088
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)	SNV Germline	Chr1:5890913	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Condition: not provided Nephronophthisis Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554221	rs_199628481	4 SubmittersRCV000298397 RCV000296052 RCV000400933 RCV001093807 RCV004535429
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)	SNV Germline	Chr1:5880206	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA554073	rs_147588666	6 SubmittersRCV000334924 RCV000861203 RCV001102311 RCV001102312 RCV001354108 RCV002518104
NM_025114.4(CEP290):c.6645+1G>A	SNV Germline	Chr12:88059897	Conflicting classifications of pathogenicity	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 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_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)	SNV Germline	Chr1:5877257	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553978	rs_112206586	4 SubmittersRCV000284900 RCV000765251 RCV001086833 RCV004537620
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)	SNV Germline	Chr1:243271035	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483252	rs_140413256	4 SubmittersRCV000276217 RCV000389243 RCV000872197 RCV003224254 RCV004537662
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)	SNV Germline	Chr1:243293116	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Condition: not provided Senior-Loken syndrome 7 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483350	rs_150070966	5 SubmittersRCV000342454 RCV000522463 RCV000399034 RCV000763845 RCV004537663
NM_006642.5(SDCCAG8):c.*97G>A	SNV Germline	Chr1:243499882	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA10609951	rs_554190542	1 SubmittersRCV000353118 RCV000402375
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=)	SNV Germline	Chr1:5874891	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA553843	rs_762202268	2 SubmittersRCV000272007 RCV000329409 RCV003748219
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=)	SNV Germline	Chr1:5947158	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA10610219	rs_562484051	2 SubmittersRCV000313161 RCV000365411 RCV001363261
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=)	SNV Germline	Chr1:5865156	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA553478	rs_762953303	3 SubmittersRCV000287037 RCV000344394 RCV001850566 RCV002480081
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)	SNV Germline	Chr1:5865160	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided NPHP4-related disorder Nephronophthisis	Criteria Provided Conflicting Classifications	CA553479	rs_560944258	5 SubmittersRCV000290652 RCV000382692 RCV000729809 RCV004543176 RCV002059490
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)	SNV Germline	Chr1:5865213	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553494	rs_199925943	4 SubmittersRCV000312869 RCV000352075 RCV000595182 RCV001093796 RCV004543177
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)	SNV Germline	Chr2:110123893	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Condition: not provided Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1826844	rs_200631256	4 SubmittersRCV000310472 RCV000365164 RCV000401330 RCV000730798 RCV001094594 RCV004544604
NM_015102.5(NPHP4):c.1047C>T (p.Val349=)	SNV Germline	Chr1:5947176	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554656	rs_560597983	3 SubmittersRCV000273284 RCV000307384 RCV001436222 RCV004537681
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)	SNV Germline	Chr2:110143602	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis not specified Nephronophthisis 1 Condition: not provided NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827002	rs_149887461	7 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 RCV004544605
NM_015102.5(NPHP4):c.6C>T (p.Asn2=)	SNV Germline	Chr1:5986284	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA554968	rs_371472576	2 SubmittersRCV000267615 RCV000301621 RCV001406447
NM_006642.5(SDCCAG8):c.306+11A>G	SNV Germline	Chr1:243271074	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483265	rs_781456866	3 SubmittersRCV000281933 RCV000318325 RCV002487315
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)	SNV Germline	Chr1:243274584	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483285	rs_143226730	2 SubmittersRCV000282826 RCV000377375 RCV000872159
NM_006642.5(SDCCAG8):c.676-4A>G	SNV Germline	Chr1:243304709	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483400	rs_377256554	2 SubmittersRCV000288842 RCV000343855 RCV001493922
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=)	SNV Germline	Chr1:243344262	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483636	rs_759125934	2 SubmittersRCV000321346 RCV000380673 RCV003765736
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)	SNV Germline	Chr2:110169872	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827390	rs_143163969	2 SubmittersRCV000267804 RCV000315824 RCV000378671 RCV001487646
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)	SNV Germline	Chr1:5880168	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis not specified Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554063	rs_199875059	3 SubmittersRCV000330012 RCV000384597 RCV000593971 RCV001093852
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg)	SNV Germline	Chr1:5890912	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA554220	rs_373962831	3 SubmittersRCV000283252 RCV000338114 RCV000592408 RCV001379795
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)	SNV Germline	Chr1:5927682	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Inborn genetic diseases NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554528	rs_367686843	7 SubmittersRCV000289380 RCV000325654 RCV000592347 RCV001320330 RCV002494924 RCV004021448 RCV004544495
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)	SNV Germline	Chr1:5933253	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 not specified Condition: not provided Nephronophthisis Kidney disorder NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554598	rs_117898549	6 SubmittersRCV000340961 RCV000389927 RCV000523327 RCV000766889 RCV001257066 RCV002294254 RCV004537680
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=)	SNV Germline	Chr1:5865195	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553489	rs_375485412	3 SubmittersRCV000347891 RCV000401689 RCV001481274 RCV004537676
NM_015102.5(NPHP4):c.3645-15C>T	SNV Germline	Chr1:5865288	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA553511	rs_558429618	4 SubmittersRCV000263212 RCV000355588 RCV001699291 RCV002059491
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)	SNV Germline	Chr1:5866405	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553535	rs_374003717	5 SubmittersRCV000302018 RCV000359177 RCV000595577 RCV001093845 RCV004543178
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)	SNV Germline	Chr1:5904645	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 Condition: not provided NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554270	rs_200848754	5 SubmittersRCV000324605 RCV000379250 RCV001093915 RCV001706444 RCV004543179
NM_015102.5(NPHP4):c.1764-5C>T	SNV Germline	Chr1:5905488	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554372	rs_370899989	6 SubmittersRCV000264546 RCV000359321 RCV000595101 RCV001093860 RCV004537679
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=)	SNV Germline	Chr1:5905727	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554412	rs_753733095	2 SubmittersRCV000319687 RCV000355974 RCV001093919
NM_015102.5(NPHP4):c.136-12G>C	SNV Germline	Chr1:5978425	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA554920	rs_371432148	2 SubmittersRCV000347268 RCV000390158 RCV001454995
NM_015102.5(NPHP4):c.-90A>T	SNV Germline	Chr1:5992295	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA10611504	rs_527962872	1 SubmittersRCV000319568 RCV000371989
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)	SNV Germline	Chr2:110163106	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Nephronophthisis Joubert syndrome with renal defect Condition: not provided Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA1827219	rs_141763330	3 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)	SNV Germline	Chr3:121770531	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA2567043	rs_373762948	2 SubmittersRCV000353462 RCV002057823
NM_001023570.4(IQCB1):c.877-11C>T	SNV Germline	Chr3:121795577	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA2567259	rs_192296154	2 SubmittersRCV000321425 RCV001510260
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=)	SNV Germline	Chr3:121826096	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis IQCB1-related disorder	Criteria Provided Conflicting Classifications	CA2567463	rs_139299149	3 SubmittersRCV000395791 RCV002057826 RCV003957770
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=)	SNV Germline	Chr3:121799248	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA10616894	rs_886057828	2 SubmittersRCV000341381 RCV002523238
NM_001023570.4(IQCB1):c.1129+13A>G	SNV Germline	Chr3:121790060	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA2567196	rs_371443898	2 SubmittersRCV000271044 RCV002057824
NM_025132.4(WDR19):c.1173C>T (p.Asn391=)	SNV Germline	Chr4:39216134	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2891791	rs_777985189	3 SubmittersRCV000342172 RCV000393193 RCV003766008 RCV004530410
NM_025132.4(WDR19):c.1357-7G>A	SNV Germline	Chr4:39217976	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2891833	rs_377101599	3 SubmittersRCV000270771 RCV000365336 RCV000955100 RCV004530411
NM_025132.4(WDR19):c.3358+15C>T	SNV Germline	Chr4:39268106	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892343	rs_750722358	2 SubmittersRCV000303611 RCV000356095 RCV002057927
NM_025132.4(WDR19):c.198A>T (p.Gly66=)	SNV Germline	Chr4:39189689	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891563	rs_749815295	2 SubmittersRCV000347534 RCV000395136 RCV002520238
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)	SNV Germline	Chr4:39216209	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Spermatogenic failure 72 Nephronophthisis 13 Cranioectodermal dysplasia 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2891800	rs_772867899	4 SubmittersRCV000298705 RCV000400723 RCV001850849 RCV002480216 RCV004021962
NM_025132.4(WDR19):c.1839A>G (p.Leu613=)	SNV Germline	Chr4:39228547	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2891949	rs_201320006	2 SubmittersRCV000280416 RCV000374932 RCV000895575
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)	SNV Germline	Chr4:39266128	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 not specified Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA2892303	rs_371128500	6 SubmittersRCV000289800 RCV000347138 RCV001699383 RCV001726139 RCV001519086 RCV002278579
NM_025132.4(WDR19):c.6+5A>G	SNV Germline	Chr4:39182568	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2891496	rs_201198839	2 SubmittersRCV000292560 RCV000386870 RCV002057925
NM_025132.4(WDR19):c.523-3T>C	SNV Germline	Chr4:39203639	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2891656	rs_747603843	5 SubmittersRCV000308025 RCV000344185 RCV000531768 RCV001700077 RCV004544650
NM_025132.4(WDR19):c.1249+9A>G	SNV Germline	Chr4:39216219	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Cranioectodermal dysplasia Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA2891801	rs_201377206	3 SubmittersRCV000353502 RCV000401556 RCV000878418 RCV002278577
NM_025132.4(WDR19):c.1932G>A (p.Thr644=)	SNV Germline	Chr4:39228640	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA10620972	rs_886059398	2 SubmittersRCV000335670 RCV000397851 RCV002523470
NM_025132.4(WDR19):c.1134+13T>G	SNV Germline	Chr4:39216026	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2891781	rs_374615138	2 SubmittersRCV000286504 RCV000380856 RCV002057926
NM_025132.4(WDR19):c.2364-15T>C	SNV Germline	Chr4:39240262	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892063	rs_771036360	2 SubmittersRCV000266893 RCV000324388 RCV001429588
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)	SNV Germline	Chr4:39268016	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Retinal dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892327	rs_769329045	3 SubmittersRCV000341521 RCV000390270 RCV001074268 RCV001413120
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)	SNV Germline	Chr4:39274909	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892440	rs_201597047	5 SubmittersRCV000288576 RCV000385239 RCV000488404 RCV001083150 RCV004530412
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	SNV Germline	Chr12:88087887	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Kidney disorder Leber congenital amaurosis Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712028	rs_181121175	8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001085312 RCV002294263 RCV001273074 RCV003888722 RCV004537751
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	SNV Germline	Chr12:88118717	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA6712526	rs_752942122	3 SubmittersRCV000299546 RCV000335728 RCV000398619 RCV000305920 RCV000728042 RCV001079199 RCV000360538
NM_025114.4(CEP290):c.-41C>T	SNV Germline	Chr12:88141913	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA10633653	rs_759820573	3 SubmittersRCV000281237 RCV000330322 RCV000338378 RCV000372028 RCV000387258 RCV000422198 RCV004537755
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	SNV Germline	Chr12:88049259	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711281	rs_765709669	3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747
NM_025114.4(CEP290):c.7209+7T>G	SNV Germline	Chr12:88050347	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6711328	rs_745813087	3 SubmittersRCV000283328 RCV000322071 RCV000270876 RCV000380635 RCV000729391 RCV000323734 RCV001409432
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	SNV Germline	Chr12:88071872	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA6711648	rs_746949236	3 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200
NM_025114.4(CEP290):c.3574-15T>A	SNV Germline	Chr12:88089502	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712114	rs_565414938	2 SubmittersRCV000272452 RCV000321121 RCV000324529 RCV000267083 RCV000378166 RCV001513375
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr12:88111737	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Condition: not provided Microcephaly Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712389	rs_375038986	6 SubmittersRCV000310425 RCV000307295 RCV000365084 RCV000371328 RCV000400672 RCV001562789 RCV001252733 RCV000861492 RCV002467728 RCV003888723
NM_025114.4(CEP290):c.54G>A (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA10638700	rs_886049885	2 SubmittersRCV000295236 RCV000325527 RCV000382505 RCV000386249 RCV001421212 RCV000352716
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	SNV Germline	Chr12:88050377	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Condition: not provided not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711331	rs_189556433	7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721
NM_025114.4(CEP290):c.5709+12A>G	SNV Germline	Chr12:88077210	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6711673	rs_371010287	2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	SNV Germline	Chr12:88087823	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 not specified Leber congenital amaurosis Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712022	rs_143152287	4 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001273072 RCV001347081
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 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Retinal dystrophy Condition: not provided Leber congenital amaurosis Inborn genetic diseases Retinitis pigmentosa CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712084	rs_139998038	10 SubmittersRCV000276434 RCV000289191 RCV000333827 RCV000327895 RCV000381363 RCV000557002 RCV001074452 RCV001555535 RCV001273076 RCV002520840 RCV001590930 RCV004544543
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	SNV Germline	Chr12:88106876	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 not specified Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712296	rs_776360559	4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	SNV Germline	Chr12:88115099	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712437	rs_199747962	5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV002461069 RCV000860718 RCV001833458 RCV002467729
NM_025114.4(CEP290):c.-33G>T	SNV Germline	Chr12:88141905	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 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	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711985	rs_377614744	3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749
NM_025114.4(CEP290):c.1623+10G>T	SNV Germline	Chr12:88118633	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA6712516	rs_377529198	2 SubmittersRCV000272744 RCV000287480 RCV000376587 RCV000382304 RCV000981128 RCV000327713
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	SNV Germline	Chr12:88130558	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Retinitis pigmentosa Leber congenital amaurosis not specified Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712768	rs_200063017	7 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752
NM_025114.4(CEP290):c.-38G>C	SNV Germline	Chr12:88141910	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA10643431	rs_886049886	2 SubmittersRCV000269659 RCV000277677 RCV000326938 RCV000366586 RCV000388544 RCV004537754
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	SNV Germline	Chr12:88130414	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability Joubert syndrome 5 Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712745	rs_202159966	7 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001110658 RCV001109869 RCV001275045 RCV001252443 RCV001109866 RCV001109867 RCV004530521
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	SNV Germline	Chr12:88059914	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711461	rs_371833544	6 SubmittersRCV000417476 RCV000765111 RCV001245037 RCV001276484 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 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712482	rs_201295052	8 SubmittersRCV000733432 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)	SNV Germline	Chr4:39244515	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 not specified WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892126	rs_201963605	6 SubmittersRCV000486591 RCV001146437 RCV001078579 RCV001146438 RCV001821402 RCV004535530
NM_025114.4(CEP290):c.4813-2A>G	SNV Germline	Chr12:88083232	Pathogenic/Likely pathogenic	Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Retinal dystrophy Leber congenital amaurosis Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 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_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)	SNV Germline	Chr1:243308026	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Condition: not provided Kidney disorder SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483446	rs_201869920	7 SubmittersRCV000504492 RCV000704873 RCV001095982 RCV001095981 RCV001700134 RCV002294338 RCV004535620
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)	SNV Germline	Chr4:39255854	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Condition: not provided Connective tissue disorder WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892240	rs_201354264	7 SubmittersRCV000500098 RCV000951959 RCV001149215 RCV001149216 RCV001532019 RCV002279282 RCV004541573
NM_025114.4(CEP290):c.1066-1G>A	SNV Germline	Chr12:88125370	Pathogenic	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241154824	rs_965522059	4 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)	SNV Germline	Chr4:39268041	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72	Criteria Provided Conflicting Classifications	CA2892335	rs_567310076	3 SubmittersRCV001227801 RCV001811019 RCV002481645
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)	SNV Germline	Chr4:39205726	Pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA2891724	rs_377160857	3 SubmittersRCV000516052 RCV001851417
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)	SNV Germline	Chr4:39224887	Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA356631901	rs_1215108056	3 SubmittersRCV000516069 RCV001316218
NM_025132.4(WDR19):c.3484-2A>C	SNV Germline	Chr4:39272978	Likely pathogenic	Type IV short rib polydactyly syndrome Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA356647016	rs_1553918403	3 SubmittersRCV000515847 RCV001851418
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)	SNV Germline	Chr3:121772566	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 5 Nephronophthisis IQCB1-related disorder	Criteria Provided Conflicting Classifications	CA2567069	rs_779858591	5 SubmittersRCV000521100 RCV001331479 RCV001851495 RCV003935382
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	SNV Germline	Chr12:88114557	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977034	rs_1555220625	6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)	SNV Germline	Chr1:243489095	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483825	rs_191821211	2 SubmittersRCV000554480 RCV001099654 RCV001097855
NM_025114.4(CEP290):c.6358-1G>A	SNV Germline	Chr12:88060995	Likely pathogenic	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	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	Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712816	rs_76267039	4 SubmittersRCV001110659 RCV001110660 RCV001112628 RCV001821528 RCV000550067 RCV001112627 RCV001112629 RCV003889921
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)	SNV Germline	Chr12:88060960	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6711500	rs_184323010	4 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187
NM_025114.4(CEP290):c.180+1G>A	SNV Germline	Chr12:88140955	Pathogenic/Likely pathogenic	Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Condition: not provided Meckel syndrome, type 4 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA6712897	rs_758593134	7 SubmittersRCV000542843 RCV000787558 RCV001199655 RCV001091342 RCV002289749 RCV002497107
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter)	SNV Germline	Chr1:243415802	Pathogenic/Likely pathogenic	Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Multiple Submitters No Conflicts	CA345667298	rs_1286714661	2 SubmittersRCV000579189 RCV002530371
NM_025114.4(CEP290):c.5012+2T>C	SNV Germline	Chr12:88083029	Likely pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385992634	rs_1369768287	6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003465334 RCV003485612
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)	SNV Germline	Chr12:88058868	Pathogenic	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Kidney disorder CEP290-related disorder Leber congenital amaurosis 10 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	CA6711432	rs_760540562	7 SubmittersRCV000596012 RCV000636987 RCV002294351 RCV002282253 RCV002250666 RCV002506412 RCV003459464
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)	SNV Germline	Chr1:5904749	Pathogenic	Condition: not provided Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 NPHP4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA17124406	rs_1025515771	4 SubmittersRCV000594142 RCV001381479 RCV002497256 RCV004530676
NM_001128178.3(NPHP1):c.772-5T>C	SNV Germline	Chr2:110163140	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827225	rs_201478764	3 SubmittersRCV000592386 RCV001134447 RCV001134448 RCV001134446 RCV003748247
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)	SNV Germline	Chr1:5904731	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554298	rs_547495754	4 SubmittersRCV000596610 RCV001002694 RCV001416064 RCV002286526
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)	SNV Germline	Chr1:5867795	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA553621	rs_371527260	3 SubmittersRCV000594476 RCV001305765 RCV002497261
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)	SNV Germline	Chr1:5904739	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554299	rs_375416303	4 SubmittersRCV000595006 RCV000862361 RCV001097015 RCV001097016 RCV004543360
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)	SNV Germline	Chr1:5873275	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA553715	rs_41280798	4 SubmittersRCV000597836 RCV000638099 RCV000765245 RCV001096629
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)	SNV Germline	Chr1:5867848	Conflicting classifications of pathogenicity	Condition: not provided NPHP4-related disorder Nephronophthisis Retinal dystrophy Nephronophthisis 4 Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA553638	rs_375836844	6 SubmittersRCV000595557 RCV000778988 RCV001055295 RCV001074439 RCV001335698 RCV002476329
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)	SNV Germline	Chr1:5874527	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA553770	rs_202004152	10 SubmittersRCV000592906 RCV000765247 RCV001054486 RCV001098354 RCV001098353
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)	SNV Germline	Chr1:5948160	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA554706	rs_527701970	3 SubmittersRCV000593557 RCV001100782 RCV001100783 RCV001509677
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)	SNV Germline	Chr3:121781790	Pathogenic	Renal dysplasia and retinal aplasia Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA82725920	rs_866982675	3 SubmittersRCV000615076 RCV002529304 RCV004568321
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)	SNV Germline	Chr12:88120207	Pathogenic/Likely pathogenic	Condition: not provided Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 CEP290-related disorder Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome 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 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712624	rs_776645403	7 SubmittersRCV000636983 RCV000763317 RCV001356853 RCV001274130 RCV003459522
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)	SNV Germline	Chr4:39225027	Pathogenic/Likely pathogenic	Cranioectodermal dysplasia Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Multiple Submitters No Conflicts		rs_771148519	3 SubmittersRCV000754959 RCV002499193 RCV003106018
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)	SNV Germline	Chr3:121790208	Pathogenic	Retinal dystrophy Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts		rs_1189889920	3 SubmittersRCV000678581 RCV001855625 RCV003465543
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)	SNV Germline	Chr1:5986157	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Senior-Loken syndrome 4	Criteria Provided Multiple Submitters No Conflicts		rs_370210428	4 SubmittersRCV000681812 RCV001237139 RCV003453402
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)	SNV Germline	Chr4:39185733	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications		rs_1237494778	4 SubmittersRCV000681867 RCV001074270 RCV001212612 RCV003319401
NM_006642.5(SDCCAG8):c.546+1G>A	SNV Germline	Chr1:243286398	Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_756907665	2 SubmittersRCV000685971 RCV004535707
NM_001128178.3(NPHP1):c.1761+5A>C	SNV Germline	Chr2:110125632	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications		rs_201030203	3 SubmittersRCV000685833 RCV001128700 RCV001128701 RCV001128702 RCV004544942
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	SNV Germline	Chr2:110161686	Pathogenic	Nephronophthisis Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts		rs_765263671	4 SubmittersRCV000702943 RCV001200637 RCV002507229 RCV003472242
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)	SNV Germline	Chr3:121772620	Pathogenic	Nephronophthisis Retinal dystrophy Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts		rs_1280238814	3 SubmittersRCV000689770 RCV001075298 RCV003459679
NM_025132.4(WDR19):c.1982+2T>C	SNV Germline	Chr4:39228692	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter		rs_780847651	1 SubmittersRCV000688346
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)	SNV Germline	Chr12:88130553	Pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy Leber congenital amaurosis Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 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	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Condition: not provided Senior-Loken syndrome 6 Leber congenital amaurosis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201569048	7 SubmittersRCV000689950 RCV001115042 RCV001115044 RCV001115041 RCV001115043 RCV001756171 RCV001115045 RCV001829910 RCV002477547 RCV004527741 RCV004026344
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)	SNV Germline	Chr12:88111318	Pathogenic	Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_753884599	5 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)	SNV Germline	Chr1:243270236	Pathogenic	Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter		rs_756518004	2 SubmittersRCV000723068 RCV001868922
NM_015102.5(NPHP4):c.2485+9C>A	SNV Germline	Chr1:5887277	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications		rs_200952409	3 SubmittersRCV000729591 RCV001087806 RCV001102315 RCV001102316
NM_015102.5(NPHP4):c.870C>T (p.Gly290=)	SNV Germline	Chr1:5948192	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications		rs_749844096	3 SubmittersRCV000729600 RCV001359189 RCV002499350
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)	SNV Germline	Chr1:5874528	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 not specified	Criteria Provided Conflicting Classifications		rs_374354239	5 SubmittersRCV000730710 RCV001084823 RCV001098356 RCV001098355 RCV001700454
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)	SNV Germline	Chr2:110169913	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts		rs_1349732291	3 SubmittersRCV000730826 RCV002493328 RCV003748273
NM_015102.5(NPHP4):c.2931G>A (p.Thr977=)	SNV Germline	Chr1:5874987	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications		rs_756370084	3 SubmittersRCV000731576 RCV001312906 RCV002493336
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)	SNV Germline	Chr1:5927733	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Multiple Submitters No Conflicts		rs_1210874691	3 SubmittersRCV000731877 RCV000796841 RCV002485904
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp)	SNV Germline	Chr1:5880212	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1233207932	4 SubmittersRCV000732748 RCV001238590 RCV002477718 RCV004027044
NM_015102.5(NPHP4):c.619C>T (p.Leu207=)	SNV Germline	Chr1:5961848	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis	Criteria Provided Conflicting Classifications		rs_765514910	3 SubmittersRCV000735118 RCV002507312 RCV002535417
NM_001128178.3(NPHP1):c.771+3G>A	SNV Germline	Chr2:110164685	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications		rs_1365022834	3 SubmittersRCV000735157 RCV002507313 RCV002535419
NM_025132.4(WDR19):c.1030C>G (p.His344Asp)	SNV Germline	Chr4:39215909	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_76599296	3 SubmittersRCV000756915 RCV001087115 RCV002279517
NM_025132.4(WDR19):c.2577G>A (p.Ala859=)	SNV Germline	Chr4:39244484	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications		rs_753596825	3 SubmittersRCV000756914 RCV001146436 RCV001146435 RCV001483312
NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu)	SNV Germline	Chr4:39274949	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided	Criteria Provided Conflicting Classifications		rs_141039852	2 SubmittersRCV001079233 RCV001811471
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)	SNV Germline	Chr4:39205191	Conflicting classifications of pathogenicity	WDR19-related disorder Retinal dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications		rs_751290509	7 SubmittersRCV000779440 RCV001074152 RCV001387309 RCV001701316 RCV002225117
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter)	SNV Germline	Chr4:39255958	Conflicting classifications of pathogenicity	WDR19-related disorder Senior-Loken syndrome 8 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications		rs_748174246	3 SubmittersRCV000779442 RCV001281117 RCV001856174
NM_006642.5(SDCCAG8):c.220+2T>C	SNV Germline	Chr1:243270259	Conflicting classifications of pathogenicity	SDCCAG8-related disorder Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications		rs_757796329	2 SubmittersRCV000778231 RCV001378522
NM_006642.5(SDCCAG8):c.675+1G>A	SNV Germline	Chr1:243293220	Conflicting classifications of pathogenicity	SDCCAG8-related disorder Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications		rs_1022080658	2 SubmittersRCV000778232 RCV002535630
NM_025114.4(CEP290):c.5587-1G>C	SNV Germline	Chr12:88077345	Pathogenic	Leber congenital amaurosis Retinal dystrophy Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_968692633	9 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)	SNV Germline	Chr1:5867887	Pathogenic/Likely pathogenic	Nephronophthisis Nephronophthisis 4 Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Multiple Submitters No Conflicts		rs_758275952	3 SubmittersRCV000792272 RCV001730711 RCV002487641
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)	SNV Germline	Chr12:88071859	Pathogenic/Likely pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 1 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts		rs_778030031	5 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)	SNV Germline	Chr12:88118549	Pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_760415289	7 SubmittersRCV000810414 RCV001274127 RCV001091339 RCV002487758 RCV003467439
NM_006642.5(SDCCAG8):c.307-1G>A	SNV Germline	Chr1:243274542	Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter		rs_1460888769	1 SubmittersRCV000804204
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)	SNV Germline	Chr1:5873300	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications		rs_187149431	2 SubmittersRCV000864108 RCV001096630 RCV001096631
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=)	SNV Germline	Chr1:5877129	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications		rs_199875603	3 SubmittersRCV000861363 RCV001102216 RCV001102217 RCV004540153
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)	SNV Germline	Chr1:5986283	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Retinal dystrophy Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications		rs_145078518	4 SubmittersRCV001099065 RCV000861300 RCV001075647 RCV001099064 RCV004538177
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)	SNV Germline	Chr3:121797212	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 5 Condition: not provided IQCB1-related disorder	Criteria Provided Conflicting Classifications		rs_199959360	5 SubmittersRCV000861997 RCV001144731 RCV001701452 RCV003908168
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)	SNV Germline	Chr12:88080244	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 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	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis Meckel syndrome, type 4 Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_200454865	7 SubmittersRCV000860704 RCV001112276 RCV001111804 RCV001111805 RCV001111806 RCV001275033 RCV001111807 RCV001546810 RCV004538174
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=)	SNV Germline	Chr1:5874597	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_151151838	4 SubmittersRCV000866116 RCV001100144 RCV001100143 RCV001700474 RCV001726351
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 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis	Criteria Provided Conflicting Classifications		rs_370464321	3 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)	SNV Germline	Chr12:88080281	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 CEP290-related disorder Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications		rs_757738553	3 SubmittersRCV001110312 RCV001110314 RCV001110313 RCV004538287 RCV000869753 RCV001110315 RCV001110316
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)	SNV Germline	Chr12:88102956	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications		rs_546463648	4 SubmittersRCV001113520 RCV001275027 RCV004540210 RCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)	SNV Germline	Chr12:88106854	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Leber congenital amaurosis Kidney disorder Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_147362398	6 SubmittersRCV000864755 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001111623 RCV001275029 RCV002294390 RCV003889993 RCV004538226
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)	SNV Germline	Chr1:243307992	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications		rs_138449445	2 SubmittersRCV000873954 RCV001095980 RCV001095979
NM_006642.5(SDCCAG8):c.1474-6C>T	SNV Germline	Chr1:243378715	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications		rs_376414138	5 SubmittersRCV000873379 RCV001099562 RCV001101536 RCV001701459
NM_025132.4(WDR19):c.1566C>T (p.Pro522=)	SNV Germline	Chr4:39224970	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications		rs_200692490	2 SubmittersRCV000951175 RCV001144396 RCV001150486
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)	SNV Germline	Chr4:39245425	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Connective tissue disorder Condition: not provided WDR19-related disorder	Criteria Provided Conflicting Classifications		rs_76326086	5 SubmittersRCV000949194 RCV002279655 RCV003106084 RCV004543559
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 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis Leber congenital amaurosis 10 CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_372986399	4 SubmittersRCV000915534 RCV001110040 RCV001114082 RCV001110041 RCV001110042 RCV001272014 RCV001110043 RCV004533513
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)	SNV Germline	Chr4:39228355	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications		rs_190192706	2 SubmittersRCV000981651 RCV001146290 RCV001146291
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)	SNV Germline	Chr1:5874988	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4	Criteria Provided Conflicting Classifications		rs_569364202	3 SubmittersRCV001002718 RCV001442994 RCV002279703
NM_001023570.4(IQCB1):c.488-1G>A	SNV Germline	Chr3:121807444	Pathogenic	Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts		rs_779696701	3 SubmittersRCV001002717
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)	SNV Germline	Chr12:88129717	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 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 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_878853360	3 SubmittersRCV001029956 RCV001380322 RCV002479228
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)	SNV Germline	Chr1:243304733	Pathogenic/Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_772544112	3 SubmittersRCV001049952 RCV002469330
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln)	SNV Germline	Chr1:243344287	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 not specified Kidney disorder SDCCAG8-related disorder	Criteria Provided Conflicting Classifications		rs_556191085	4 SubmittersRCV001049051 RCV001819763 RCV002294436 RCV004528356
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)	SNV Germline	Chr1:243417986	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter		rs_2080721288	1 SubmittersRCV001040226
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=)	SNV Germline	Chr1:5877192	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications		rs_576473519	3 SubmittersRCV001049173 RCV002489608 RCV004536094
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)	SNV Germline	Chr2:110123939	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts		rs_1311042980	3 SubmittersRCV001059818 RCV003467802 RCV002497439
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)	SNV Germline	Chr2:110165137	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts		rs_753517219	3 SubmittersRCV001039504 RCV002505566 RCV003461446
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)	SNV Germline	Chr3:121772658	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_778777318	4 SubmittersRCV001041746 RCV001147492 RCV003243418
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)	SNV Germline	Chr12:88111263	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 10 Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_199583200	5 SubmittersRCV001057249 RCV001111724 RCV001111726 RCV001111727 RCV001562596 RCV001832517 RCV001111723 RCV001111725 RCV004536115
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)	SNV Germline	Chr12:88136717	Pathogenic	Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_770126103	5 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003462577 RCV003228800
NM_025132.4(WDR19):c.961+2T>C	SNV Germline	Chr4:39214673	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Spermatogenic failure 72	Criteria Provided Multiple Submitters No Conflicts		rs_1728876351	2 SubmittersRCV001043448 RCV002481903
NM_025114.4(CEP290):c.1624-5T>G	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications		rs_142742071	3 SubmittersRCV001064972 RCV001827420 RCV002468139
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)	SNV Germline	Chr12:88141306	Pathogenic/Likely pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_368984997	4 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004536141
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=)	SNV Germline	Chr1:5877237	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Conflicting Classifications		rs_974196549	2 SubmittersRCV001098575 RCV001098576 RCV002556006
NM_015102.5(NPHP4):c.2490C>T (p.His830=)	SNV Germline	Chr1:5880235	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis	Criteria Provided Conflicting Classifications		rs_549982601	2 SubmittersRCV001102313 RCV001102314 RCV001397878
NM_006642.5(SDCCAG8):c.420+12A>G	SNV Germline	Chr1:243274668	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications		rs_2068379887	2 SubmittersRCV001099443 RCV001099442 RCV003769063
NM_006642.5(SDCCAG8):c.741-7T>C	SNV Germline	Chr1:243307982	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications		rs_755931555	2 SubmittersRCV001095977 RCV001095978 RCV002554887
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)	SNV Germline	Chr12:88071822	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications		rs_752046733	2 SubmittersRCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001112803 RCV001462557
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)	SNV Germline	Chr12:88077324	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications		rs_777353443	2 SubmittersRCV001110128 RCV001110127 RCV001110125 RCV001110126 RCV001110129 RCV002067798
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)	SNV Germline	Chr12:88089344	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications		rs_1159465602	2 SubmittersRCV001113347 RCV001113346 RCV001114719 RCV001114717 RCV001114718 RCV001400067
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)	SNV Germline	Chr12:88129875	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_200587974	6 SubmittersRCV001109862 RCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001244757 RCV001279936 RCV002497520 RCV003227912 RCV004538332
NM_025114.4(CEP290):c.54G>C (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications		rs_886049885	2 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187
NM_001128178.3(NPHP1):c.*194T>C	SNV Germline	Chr2:110123597	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1	Criteria Provided Conflicting Classifications		rs_189472793	1 SubmittersRCV001135697 RCV001135695 RCV001135696
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)	SNV Germline	Chr2:110178512	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Nephronophthisis NPHP1-related disorder	Criteria Provided Conflicting Classifications		rs_767719020	3 SubmittersRCV001136002 RCV001136003 RCV001136004 RCV001412525 RCV004545078
NM_001128178.3(NPHP1):c.1716+15T>C	SNV Germline	Chr2:110129171	Conflicting classifications of pathogenicity	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications		rs_368590150	2 SubmittersRCV001131331 RCV001131332 RCV001134326 RCV001856698
NM_001128178.3(NPHP1):c.771+178C>T	SNV Germline	Chr2:110164510	Conflicting classifications of pathogenicity	Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Conflicting Classifications		rs_767903893	2 SubmittersRCV001134449 RCV001134450 RCV001134451 RCV001481343
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)	SNV Germline	Chr3:121770486	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications		rs_1399676175	2 SubmittersRCV001146576 RCV002070777
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)	SNV Germline	Chr3:121781760	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications		rs_147708058	2 SubmittersRCV001147494 RCV002032375
NM_025132.4(WDR19):c.822T>C (p.His274=)	SNV Germline	Chr4:39205668	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications		rs_750215526	2 SubmittersRCV001144283 RCV001144284 RCV002070740
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)	SNV Germline	Chr4:39240299	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided WDR19-related disorder	Criteria Provided Conflicting Classifications		rs_187332731	4 SubmittersRCV001144508 RCV001144507 RCV001437182 RCV003142079 RCV004538367
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)	SNV Germline	Chr4:39255888	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications		rs_761990492	2 SubmittersRCV001150719 RCV001150720 RCV002557249
NM_025132.4(WDR19):c.3483+11T>C	SNV Germline	Chr4:39270111	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications		rs_766475725	2 SubmittersRCV001149320 RCV001149321 RCV001402985
NM_025132.4(WDR19):c.3484-15T>C	SNV Germline	Chr4:39272965	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications		rs_376870184	2 SubmittersRCV001149322 RCV001149323 RCV002070811
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)	SNV Germline	Chr1:5986278	Pathogenic/Likely pathogenic	Senior-Loken syndrome 4 Kidney disorder Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts		rs_780905861	3 SubmittersRCV001197495 RCV002294447 RCV003117841
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)	SNV Germline	Chr3:121797132	Pathogenic/Likely pathogenic	Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts		rs_1949225959	2 SubmittersRCV001212634 RCV003462714
NM_006642.5(SDCCAG8):c.221-1G>A	SNV Germline	Chr1:243270977	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter		rs_2068036602	1 SubmittersRCV001207765
NM_001128178.3(NPHP1):c.771+169G>T	SNV Germline	Chr2:110164519	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Joubert syndrome and related disorders	Criteria Provided Conflicting Classifications		rs_150520157	4 SubmittersRCV001203841 RCV001535975 RCV003462683 RCV003226442
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)	SNV Germline	Chr4:39189766	Pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter		rs_926405916	1 SubmittersRCV001235420
NM_025132.4(WDR19):c.1479T>C (p.Asp493=)	SNV Germline	Chr4:39218105	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 WDR19-related disorder	Criteria Provided Conflicting Classifications		rs_1207013785	2 SubmittersRCV001229171 RCV004545134
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)	SNV Germline	Chr12:88093839	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts		rs_886042467	2 SubmittersRCV001237935 RCV002504334
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=)	SNV Germline	Chr1:243256239	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications		rs_764668676	2 SubmittersRCV001245263 RCV004538516
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)	SNV Germline	Chr12:88054359	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications		rs_200969981	8 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004538510 RCV004577955
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)	SNV Germline	Chr12:88071420	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications		rs_562477272	6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)	SNV Germline	Chr4:39253157	Likely pathogenic	Senior-Loken syndrome 8 Saldino-Mainzer syndrome Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter		rs_766616967	3 SubmittersRCV001281116 RCV001290088 RCV002251761
NM_025132.4(WDR19):c.2646-2A>G	SNV Germline	Chr4:39245367	Likely pathogenic	Inborn genetic diseases Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts		rs_890152763	2 SubmittersRCV001265913 RCV001880103
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro)	SNV Germline	Chr4:39253920	Conflicting classifications of pathogenicity	Inborn genetic diseases Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications		rs_1733504639	2 SubmittersRCV001265914 RCV001880104
NM_025132.4(WDR19):c.1778-1G>A	SNV Germline	Chr4:39228485	Likely pathogenic	Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts		rs_1730515128	2 SubmittersRCV001812343 RCV001871671
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)	SNV Germline	Chr1:243274633	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_768207230	2 SubmittersRCV002932081 RCV002932082
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)	SNV Germline	Chr4:39244290	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Spermatogenic failure 72 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications		rs_138364911	2 SubmittersRCV001313901 RCV002476453
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)	SNV Germline	Chr2:110131733	Pathogenic	Joubert syndrome with renal defect Nephronophthisis Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_547352656	3 SubmittersRCV001332330 RCV001382647 RCV001536104
NM_006642.5(SDCCAG8):c.1985+1G>T	SNV Germline	Chr1:243426559	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_752046196	2 SubmittersRCV001998335 RCV004529074
NM_025132.4(WDR19):c.3184-2A>C	SNV Germline	Chr4:39266061	Pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Renal dysplasia and retinal aplasia	Criteria Provided Multiple Submitters No Conflicts		rs_1020915921	2 SubmittersRCV001970776 RCV003324579
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)	SNV Germline	Chr2:110123818	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications		rs_151120697	2 SubmittersRCV001371820 RCV002488174
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter)	SNV Germline	Chr3:121808990	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter		rs_2108595322	1 SubmittersRCV001376428
NM_006642.5(SDCCAG8):c.547-1G>A	SNV Germline	Chr1:243293090	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter		rs_2070433656	1 SubmittersRCV001377051
NM_025132.4(WDR19):c.1357-2A>T	SNV Germline	Chr4:39217981	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter		rs_1221444922	1 SubmittersRCV001377034
NM_025132.4(WDR19):c.1479+2T>C	SNV Germline	Chr4:39218107	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter		rs_756329385	1 SubmittersRCV001379131
NM_025132.4(WDR19):c.3262-2A>G	SNV Germline	Chr4:39267993	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter		rs_753291151	1 SubmittersRCV001379466
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)	SNV Germline	Chr1:243308032	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Multiple Submitters No Conflicts		rs_149038104	2 SubmittersRCV001382396
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)	SNV Germline	Chr1:243330618	Pathogenic/Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Multiple Submitters No Conflicts		rs_964673995	2 SubmittersRCV001384058
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter)	SNV Germline	Chr4:39194641	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter		rs_778039192	1 SubmittersRCV001383659
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	SNV Germline	Chr12:88049300	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14	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	Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Condition: not provided Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_779645669	4 SubmittersRCV001381486 RCV001836389 RCV003156344 RCV002476720
NM_015102.5(NPHP4):c.3644+1G>T	SNV Germline	Chr1:5866372	Pathogenic/Likely pathogenic	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts		rs_756111113	2 SubmittersRCV001536003 RCV001882599
NM_015102.5(NPHP4):c.1504-1G>A	SNV Unknown	Chr1:5907223	Likely pathogenic	Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Single Submitter		rs_1204924769	1 SubmittersRCV001535885
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 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_2138086844	4 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)	SNV Germline	Chr4:39244311	Pathogenic/Likely pathogenic	Cone dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Multiple Submitters No Conflicts		rs_775181779	3 SubmittersRCV001591895 RCV002501946 RCV002571163
NM_006642.5(SDCCAG8):c.1356+1G>C	SNV Germline	Chr1:243341174	Likely pathogenic	Bardet-Biedl syndrome Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Multiple Submitters No Conflicts		rs_2147782314	2 SubmittersRCV001779472 RCV002541103
NM_001023570.4(IQCB1):c.767-2A>G	SNV Germline	Chr3:121797229	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter		rs_2108566215	1 SubmittersRCV001808054
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)	SNV Germline	Chr12:88050365	Pathogenic/Likely pathogenic	CEP290-related disorder Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_1478582091	4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936
NM_025132.4(WDR19):c.3483+1G>C	SNV Germline	Chr4:39270101	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter		rs_2109497413	1 SubmittersRCV002024085
NM_025114.4(CEP290):c.102+2T>G	SNV Germline	Chr12:88141204	Likely pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_763226787	4 SubmittersRCV002027685 RCV003226528 RCV002498073 RCV003471280
NM_025132.4(WDR19):c.717-1G>C	SNV Germline	Chr4:39205562	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter		rs_2109300967	1 SubmittersRCV002010585
NM_025132.4(WDR19):c.3184-2A>G	SNV Germline	Chr4:39266061	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter		rs_1020915921	1 SubmittersRCV002050681
NM_006642.5(SDCCAG8):c.1745-2A>G	SNV Germline	Chr1:243417966	Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter		rs_1442457872	1 SubmittersRCV002047017
NM_025114.4(CEP290):c.1359+1G>A	SNV Germline	Chr12:88120996	Likely pathogenic	Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts		rs_935130451	3 SubmittersRCV002017506 RCV002507780 RCV003471253
NM_001128178.3(NPHP1):c.729-2A>G	SNV Germline	Chr2:110164732	Likely pathogenic	Nephronophthisis Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts		rs_773781058	3 SubmittersRCV002011188 RCV002492327 RCV003471256
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)	SNV Germline	Chr4:39278635	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications		rs_763555032	2 SubmittersRCV001910564 RCV002484542
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter)	SNV Germline	Chr4:39199512	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 WDR19-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1273811425	2 SubmittersRCV002007147 RCV004542198
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)	SNV Germline	Chr1:243271007	Pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter		rs_201658593	1 SubmittersRCV001932690
NM_001023570.4(IQCB1):c.588-2A>G	SNV Germline	Chr3:121799376	Likely pathogenic	Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts		rs_1250919247	2 SubmittersRCV002027849 RCV003471283
NM_025132.4(WDR19):c.234C>A (p.Cys78Ter)	SNV Germline	Chr4:39189725	Pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter		rs_1232301082	1 SubmittersRCV001946837
NM_001128178.3(NPHP1):c.143+1G>C	SNV Germline	Chr2:110201420	Likely pathogenic	Nephronophthisis Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts		rs_745806504	3 SubmittersRCV001970457 RCV002497908 RCV003471207
NM_025132.4(WDR19):c.1778-2A>C	SNV Germline	Chr4:39228484	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter		rs_1730514795	1 SubmittersRCV002029683
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)	SNV Germline	Chr2:110168477	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_373951297	3 SubmittersRCV002049316 RCV002489940 RCV002545704
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)	SNV Germline	Chr3:121781820	Pathogenic	Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts		rs_867772426	2 SubmittersRCV001956492 RCV003475250
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)	SNV Germline	Chr2:110131704	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications		rs_1266229950	2 SubmittersRCV001984761 RCV002484661
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)	SNV Germline	Chr4:39268052	Pathogenic/Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Multiple Submitters No Conflicts		rs_1401145684	2 SubmittersRCV001890451 RCV002503474
NM_025132.4(WDR19):c.890+1G>T	SNV Germline	Chr4:39205737	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter		rs_1338996032	1 SubmittersRCV001978430
NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys)	SNV Germline	Chr4:39224887	Pathogenic	Senior-Loken syndrome 8	No Assertion Criteria Provided		rs_1215108056	1 SubmittersRCV002248393
NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)	SNV Germline	Chr4:39205595	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV002585060
NM_006642.5(SDCCAG8):c.1068+1G>A	SNV Germline	Chr1:243316894	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter			1 SubmittersRCV002651436
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)	SNV Germline	Chr1:243256219	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter			1 SubmittersRCV002602013
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)	SNV Germline	Chr1:243286374	Pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV002587370
NM_006642.5(SDCCAG8):c.420+1G>C	SNV Germline	Chr1:243274657	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter			1 SubmittersRCV002775143
NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)	SNV Germline	Chr4:39278539	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002770803 RCV003434508
NM_006642.5(SDCCAG8):c.1853+2T>A	SNV Germline	Chr1:243418078	Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV002811519
NM_006642.5(SDCCAG8):c.1617-1G>A	SNV Germline	Chr1:243415701	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter			1 SubmittersRCV002796068
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)	SNV Germline	Chr1:243308097	Pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV002842727
NM_025132.4(WDR19):c.3483+1G>A	SNV Germline	Chr4:39270101	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV002889379
NM_025132.4(WDR19):c.1983-2A>C	SNV Germline	Chr4:39231795	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV002876098
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)	SNV Germline	Chr4:39203645	Pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter			1 SubmittersRCV002903042
NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)	SNV Germline	Chr4:39244496	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV003013147
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)	SNV Germline	Chr3:121781821	Pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003330255
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)	SNV Germline	Chr1:243308110	Pathogenic/Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003778259 RCV004529261
NM_001023570.4(IQCB1):c.263+1G>T	SNV Unknown	Chr3:121828469	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003461749
NM_001023570.4(IQCB1):c.100+1G>A	SNV Unknown	Chr3:121828860	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003461750
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)	SNV Unknown	Chr3:121790178	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003469865
NM_001023570.4(IQCB1):c.488-2A>G	SNV Unknown	Chr3:121807445	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003469866
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)	SNV Unknown	Chr3:121807354	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003461751
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)	SNV Unknown	Chr3:121790151	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003469868
NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)	SNV Unknown	Chr3:121808922	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003461752
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)	SNV Unknown	Chr3:121828582	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV003461754
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)	SNV Germline	Chr3:121807438	Pathogenic	Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003749071 RCV004573275
NM_025132.4(WDR19):c.716+1G>C	SNV Germline	Chr4:39205267	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV003786262
NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)	SNV Germline	Chr4:39224938	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV003789506
NM_025132.4(WDR19):c.2364-2A>G	SNV Germline	Chr4:39240275	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV003799591
NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)	SNV Germline	Chr4:39234789	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV003805473
NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)	SNV Germline	Chr4:39234788	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV003805719
NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)	SNV Germline	Chr4:39253187	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV003806265
NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)	SNV Germline	Chr4:39253188	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter			1 SubmittersRCV003797459
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)	SNV Germline	Chr1:243308035	Pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003812502
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)	SNV Germline	Chr3:121828861	Pathogenic/Likely pathogenic	Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003811074 RCV004573339
NM_001023570.4(IQCB1):c.814C>T (p.Gln272Ter)	SNV Unknown	Chr3:121797180	Pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV004576754
NM_001023570.4(IQCB1):c.1342C>T (p.Gln448Ter)	SNV Unknown	Chr3:121781811	Pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV004576756
NM_001023570.4(IQCB1):c.1129+1G>A	SNV Unknown	Chr3:121790072	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV004576759
NM_001023570.4(IQCB1):c.986+1G>T	SNV Unknown	Chr3:121795456	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV004576761
NM_001023570.4(IQCB1):c.487+1G>A	SNV Unknown	Chr3:121808915	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV004576763
NM_001023570.4(IQCB1):c.1568-2A>G	SNV Unknown	Chr3:121770576	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter			1 SubmittersRCV004576764

SNV
Germline

Chr1:243305133

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA251367

rs_397515337

6 SubmittersRCV000000077 RCV000760978 RCV002265541 RCV002476900 RCV004532265

NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)

SNV
Germline

Chr1:243304716

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA251368

rs_267607031

2 SubmittersRCV000000078 RCV003764499

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

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

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

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

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

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

SNV
Germline

Chr12:88083936

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

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

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

SNV
Germline

Chr12:88130324

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

9 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001376372 RCV002496228 RCV001042869 RCV001781163 RCV003466779 RCV003887847

NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)

SNV
Germline

Chr3:121781772

Pathogenic

Senior-Loken syndrome 5
Nephronophthisis
Condition: not provided
Renal dysplasia and retinal aplasia
Retinal dystrophy
Inborn genetic diseases
IQCB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115214

rs_121918244

12 SubmittersRCV000001904 RCV000230781 RCV000681897 RCV001003059 RCV000505099 RCV003362658 RCV003398416

NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr3:121790133

Pathogenic

Senior-Loken syndrome 5

No Assertion Criteria Provided

CA115216

rs_121918245

1 SubmittersRCV000001908

NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)

SNV
Germline

Chr1:5887436

Pathogenic

Senior-Loken syndrome 4
Nephronophthisis

No Assertion Criteria Provided

CA116188

rs_137852922

2 SubmittersRCV000003573 RCV000234814

NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)

SNV
Germline

Chr1:5904788

Pathogenic

Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4

Criteria Provided
Single Submitter

CA116190

rs_137852923

4 SubmittersRCV000003574 RCV000234826 RCV000735764

NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)

SNV
Germline

Chr4:39231943

Pathogenic

Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided
Connective tissue disorder
Renal dysplasia and retinal aplasia
WDR19-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA199262

rs_387906980

10 SubmittersRCV000023681 RCV000169775 RCV000987440 RCV001047050 RCV001356848 RCV002276570 RCV003324499 RCV004532400

NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)

SNV
Germline

Chr4:39268040

Pathogenic

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA342746

rs_387906981

3 SubmittersRCV000023682 RCV001857362

NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)

SNV
Germline

Chr3:121772659

Pathogenic

Senior-Loken syndrome 5
Retinal dystrophy
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA129459

rs_373909351

7 SubmittersRCV000023757 RCV001075299 RCV000800060

NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)

SNV
Germline

Chr3:121790166

Pathogenic

Senior-Loken syndrome 5
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA129461

rs_387907009

6 SubmittersRCV000023758 RCV000462160 RCV000504719

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

SNV
Germline

Chr12:88114488

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

10 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002504949 RCV002285263 RCV003460645

NM_001128178.3(NPHP1):c.771+2C>T

SNV
Germline

Chr2:110164686

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220570

rs_189320299

5 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380

NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)

SNV
Germline

Chr1:5867883

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4
Condition: not provided
Kidney disorder
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA223178

rs_139767853

13 SubmittersRCV000081715 RCV000331197 RCV000292444 RCV001093742 RCV001573175 RCV002294019 RCV002498430

NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)

SNV
Germline

Chr1:5863367

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA148749

rs_35641267

7 SubmittersRCV000081719 RCV000476917 RCV001096418 RCV001098156 RCV001528249 RCV004529858

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

SNV
Germline

Chr12:88086456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000366483 RCV000351974 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298

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

SNV
Germline

Chr12:88089247

Pathogenic

Condition: not provided
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis
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

CA227967

rs_62640581

7 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011

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

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

8 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014

NM_025132.4(WDR19):c.1477G>C (p.Asp493His)

SNV
Germline

Chr4:39218103

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Nephronophthisis 13
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA151406

rs_587777349

4 SubmittersRCV000115011 RCV001281114 RCV001753491 RCV001854543

NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)

SNV
Germline

Chr4:39274945

Pathogenic/Likely pathogenic

Nephronophthisis 13
Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Criteria Provided
Multiple Submitters
No Conflicts

CA151410

rs_587777351

6 SubmittersRCV000115013 RCV000788500 RCV001281118 RCV001854544 RCV002477273

NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)

SNV
Germline

Chr4:39273029

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Condition: not provided
Cranioectodermal dysplasia
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Leber congenital amaurosis
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

CA151412

rs_79436363

8 SubmittersRCV000115014 RCV000433622 RCV000754960 RCV000653250 RCV000850617 RCV001262101 RCV003224149 RCV003224150

NM_025132.4(WDR19):c.3565+1G>A

SNV
Germline

Chr4:39273062

Pathogenic/Likely pathogenic

Senior-Loken syndrome 8
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Connective tissue disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA151414

rs_587777352

8 SubmittersRCV000115015 RCV000516054 RCV000681868 RCV001212609 RCV001797626 RCV002277157

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000266641 RCV000297299 RCV000262275 RCV000321698 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
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000279934 RCV000337209 RCV000375509 RCV000372128 RCV000459124 RCV000293222 RCV001271579 RCV001812001 RCV002294037

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

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

7 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV002294038 RCV001812002

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

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

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

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

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

6 SubmittersRCV000144459 RCV002492522 RCV001384909 RCV003387770 RCV003467201 RCV003888575

NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)

SNV
Germline

Chr1:243344267

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA234901

rs_118064970

4 SubmittersRCV000153922 RCV001086622 RCV001099560 RCV001099561 RCV004532738

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

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

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

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

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV001110739 RCV001079764 RCV001109956 RCV001110741 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882

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

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

14 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046

NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)

SNV
Germline

Chr1:5875036

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
Kidney disorder
Cholestasis

Criteria Provided
Conflicting Classifications

CA333575

rs_183885357

8 SubmittersRCV000153585 RCV000206662 RCV000986223 RCV001098462 RCV001084832 RCV002294050 RCV003447506

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

SNV
Germline

Chr12:88060951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445

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

SNV
Germline

Chr2:110178520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234415

rs_140446520

8 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425

NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr3:121790112

Pathogenic

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA200804

rs_727503968

4 SubmittersRCV000174030 RCV000707207 RCV002250577

NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)

SNV
Germline

Chr4:39253208

Conflicting classifications of pathogenicity

not specified
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Connective tissue disorder
Inborn genetic diseases
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA235263

rs_187546086

11 SubmittersRCV000154140 RCV000278329 RCV000317115 RCV000723861 RCV001083264 RCV002277304 RCV002516102 RCV004532742

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

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000344957 RCV000399776 RCV000291841 RCV000400108 RCV000346891 RCV001085341 RCV003888583

NM_001023570.4(IQCB1):c.264-2A>T

SNV
Germline

Chr3:121826182

Pathogenic

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA203031

rs_727503969

3 SubmittersRCV000178818 RCV002514955 RCV004567175

NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)

SNV
Germline

Chr1:243271024

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA234899

rs_148818431

4 SubmittersRCV000153921 RCV000275041 RCV000330149 RCV000723734 RCV001085093

NM_025132.4(WDR19):c.1845T>C (p.Asn615=)

SNV
Germline

Chr4:39228553

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA235261

rs_727504221

2 SubmittersRCV000154139 RCV002056049

NM_025132.4(WDR19):c.203T>A (p.Val68Asp)

SNV
Germline

Chr4:39189694

Pathogenic

Senior-Loken syndrome 8

No Assertion Criteria Provided

CA199263

rs_786204852

1 SubmittersRCV000169776

NM_025132.4(WDR19):c.407-2A>G

SNV
Germline

Chr4:39199476

Pathogenic

Senior-Loken syndrome 8

No Assertion Criteria Provided

CA199265

rs_374400438

1 SubmittersRCV000169777

NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)

SNV
Germline

Chr1:5863955

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA235731

rs_369162678

5 SubmittersRCV000171146 RCV000308383 RCV001093794 RCV000346948 RCV002478540

NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)

SNV
Germline

Chr1:5874542

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA235733

rs_373369949

4 SubmittersRCV000171147 RCV001058651 RCV004535163 RCV002485085

NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)

SNV
Germline

Chr4:39253193

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13

Criteria Provided
Conflicting Classifications

CA236213

rs_751386429

3 SubmittersRCV000171376 RCV002515238 RCV003989482

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

SNV
Germline

Chr2:110161690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239098

rs_371112962

4 SubmittersRCV000173662 RCV000305677 RCV000390136 RCV000353470 RCV001094562

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

SNV
Germline

Chr2:110161645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239100

rs_794726975

3 SubmittersRCV000173663 RCV001852113 RCV002500458

NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)

SNV
Germline

Chr1:243344238

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA239877

rs_79762798

3 SubmittersRCV000174354 RCV001085070 RCV004539611

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

SNV
Germline

Chr2:110146839

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240230

rs_151204566

8 SubmittersRCV000174670 RCV000230927 RCV001128802 RCV001128804 RCV001128803 RCV001699052

NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)

SNV
Germline

Chr1:5905763

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4
not specified

Criteria Provided
Conflicting Classifications

CA240343

rs_201903713

5 SubmittersRCV000174775 RCV000261125 RCV000316449 RCV001093920 RCV001698987

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

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV000835406 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001084413 RCV001112002

NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)

SNV
Germline

Chr1:5890915

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Kidney disorder
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA334827

rs_148424288

10 SubmittersRCV000175205 RCV000204681 RCV000392070 RCV001573161 RCV002294061 RCV001093856

NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)

SNV
Germline

Chr1:5890969

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 4
Nephronophthisis
Senior-Loken syndrome 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA240913

rs_191913664

9 SubmittersRCV000724060 RCV000986226 RCV001088494 RCV001100471 RCV004537377

NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)

SNV
Germline

Chr1:5874953

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA242083

rs_116606479

10 SubmittersRCV000261619 RCV000367814 RCV000723970 RCV001093746 RCV004537396

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

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

10 SubmittersRCV000176690 RCV000192651 RCV000660467 RCV001082205 RCV001111528 RCV001111529 RCV001113514 RCV001113515 RCV001275025 RCV004528939

NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)

SNV
Germline

Chr1:5864423

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA242973

rs_115488133

6 SubmittersRCV000176884 RCV000864161 RCV001099939 RCV001101945 RCV001753581 RCV004537416

NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)

SNV
Germline

Chr1:5978278

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA243432

rs_201065230

9 SubmittersRCV000177288 RCV000723456 RCV000764007 RCV001081496 RCV001097313 RCV001097312

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

SNV
Germline

Chr12:88089407

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
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.5322C>T (p.Leu1774=)

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000320490 RCV000328615 RCV000364677 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
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinal dystrophy
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

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

NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)

SNV
Germline

Chr1:243308173

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA247688

rs_149359674

3 SubmittersRCV000180303 RCV001078537 RCV004537508

NM_006642.5(SDCCAG8):c.221-2A>G

SNV
Germline

Chr1:243270976

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA209406

rs_797045946

2 SubmittersRCV000194923 RCV000760977

NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)

SNV
Germline

Chr1:243286332

Pathogenic

Senior-Loken syndrome 7
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA206745

rs_797045947

3 SubmittersRCV000193333 RCV001390072 RCV004530146

NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)

SNV
Germline

Chr1:243293111

Pathogenic/Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA207867

rs_797045948

4 SubmittersRCV000194004 RCV001731515 RCV002517977 RCV004530147

NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)

SNV
Germline

Chr1:243378748

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Condition: not provided
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA207762

rs_150646039

4 SubmittersRCV000193940 RCV000873932 RCV001558681 RCV004541252

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_015102.5(NPHP4):c.4114C>T (p.Leu1372=)

SNV
Germline

Chr1:5863916

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4
not specified

Criteria Provided
Conflicting Classifications

CA337751

rs_374146357

6 SubmittersRCV000198249 RCV000407300 RCV000596396 RCV001093793 RCV001699062

NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)

SNV
Germline

Chr2:110123964

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA336743

rs_780427871

6 SubmittersRCV000196832 RCV000730183 RCV001128696 RCV001135698 RCV001128695 RCV002282034 RCV002517295 RCV002478707

NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)

SNV
Germline

Chr3:121772575

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 5
not specified
Condition: not provided
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA336283

rs_139468837

9 SubmittersRCV000196260 RCV000299620 RCV000351992 RCV001562096 RCV003947644

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

SNV
Germline

Chr12:88079112

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

6 SubmittersRCV000201766 RCV000763310 RCV000598977 RCV001058542 RCV003468923

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

SNV
Germline

Chr12:88083161

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

10 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354

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

SNV
Germline

Chr12:88084768

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

13 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926

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

SNV
Germline

Chr12:88086083

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

14 SubmittersRCV000201563 RCV000502726 RCV000816913 RCV000763314 RCV001002937 RCV001030764 RCV001589085 RCV001529566 RCV003468919

NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)

SNV
Germline

Chr3:121772683

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA348358

rs_140630401

6 SubmittersRCV000519668 RCV000787845 RCV001147493 RCV001082244 RCV003917846

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

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386

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

SNV
Germline

Chr12:88117076

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829

NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)

SNV
Germline

Chr1:5890953

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Senior-Loken syndrome 4
Nephronophthisis 4
Atypical hemolytic-uremic syndrome
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA554238

rs_34248917

7 SubmittersRCV000233672 RCV000248287 RCV000364078 RCV001093858 RCV002294087 RCV003224236

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

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

2 SubmittersRCV000226860 RCV001109948 RCV001109944 RCV001109946 RCV001109945 RCV001109947

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

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
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

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
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_025132.4(WDR19):c.3918-6A>C

SNV
Germline

Chr4:39278533

Conflicting classifications of pathogenicity

not specified
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

CA2892539

rs_199546190

3 SubmittersRCV000239256 RCV000877878 RCV001150826 RCV001144715

NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala)

SNV
Germline

Chr2:238328705

Pathogenic

Senior-Loken syndrome 9

No Assertion Criteria Provided

CA10586343

rs_886037896

1 SubmittersRCV000240625

NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter)

SNV
Germline

Chr2:238328794

Pathogenic

Senior-Loken syndrome 9
Condition: not provided

Criteria Provided
Single Submitter

CA2198069

rs_765903345

2 SubmittersRCV000240637 RCV001854938

NM_015650.4(TRAF3IP1):c.1575+6T>G

SNV
Germline

Chr2:238352956

Pathogenic

Senior-Loken syndrome 9

No Assertion Criteria Provided

CA10586344

rs_886037897

1 SubmittersRCV000240622

NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met)

SNV
Germline

Chr2:238328704

Pathogenic

Senior-Loken syndrome 9

No Assertion Criteria Provided

CA10586345

rs_886037898

1 SubmittersRCV000240633

NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met)

SNV
Germline

Chr2:238320713

Pathogenic

Senior-Loken syndrome 9

No Assertion Criteria Provided

CA10586346

rs_886037899

1 SubmittersRCV000240646

NM_006642.5(SDCCAG8):c.547-4T>G

SNV
Germline

Chr1:243293087

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483344

rs_12080579

3 SubmittersRCV000242044 RCV001459481

NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)

SNV
Germline

Chr1:243316789

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483504

rs_6672843

2 SubmittersRCV000242555 RCV001042143

NM_015102.5(NPHP4):c.4141-11C>T

SNV
Germline

Chr1:5863416

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553320

rs_139203183

3 SubmittersRCV000286079 RCV000377961 RCV001522225 RCV004529440

NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)

SNV
Germline

Chr1:5875098

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA553910

rs_35575973

4 SubmittersRCV000242359 RCV000291890 RCV000386368 RCV000726860 RCV001093848

NM_025132.4(WDR19):c.1198C>T (p.Leu400=)

SNV
Germline

Chr4:39216159

Conflicting classifications of pathogenicity

not specified
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2891795

rs_199765304

4 SubmittersRCV000246087 RCV000302521 RCV000338763 RCV000952547 RCV001753728

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
Senior-Loken syndrome 6
Meckel syndrome, type 4
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000402056 RCV000391752 RCV000514061 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
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
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
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001109701 RCV001109703 RCV001113718 RCV001113719 RCV001109702 RCV001572697 RCV001086907

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

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001113799 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001275038 RCV001311004

NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)

SNV
Germline

Chr4:39218060

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia
Senior-Loken syndrome 8

No Assertion Criteria Provided

CA10588960

rs_886039814

2 SubmittersRCV000256446 RCV000985142

NM_025132.4(WDR19):c.2363+1G>A

SNV
Germline

Chr4:39234876

Pathogenic/Likely pathogenic

Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Criteria Provided
Multiple Submitters
No Conflicts

CA10602914

rs_886041912

3 SubmittersRCV000320568 RCV001234299 RCV002494812

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

SNV
Germline

Chr12:88114536

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734

NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)

SNV
Germline

Chr1:5947199

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Kidney disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA554665

rs_190940697

5 SubmittersRCV000357469 RCV000543369 RCV001100780 RCV001100781 RCV002294211 RCV003409400

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

SNV
Germline

Chr12:88125343

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

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

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

SNV
Germline

Chr12:88106770

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

10 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV001380938

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

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113144 RCV001113143 RCV001114512 RCV001114513 RCV001697702

NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)

SNV
Germline

Chr1:5864374

Conflicting classifications of pathogenicity

Nephronophthisis 4
Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553411

rs_778306754

4 SubmittersRCV000315514 RCV000353114 RCV000353952 RCV001484563 RCV004543006

NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)

SNV
Germline

Chr1:243293141

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483357

rs_143407309

6 SubmittersRCV000404550 RCV001087041 RCV001101445 RCV001101444 RCV004535320

NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)

SNV
Germline

Chr1:5909210

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
not specified
Nephronophthisis 4
Senior-Loken syndrome 4
Inborn genetic diseases
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554499

rs_372565083

6 SubmittersRCV000343427 RCV000332355 RCV001093815 RCV003151009 RCV002487222 RCV002519168 RCV000277373

NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)

SNV
Germline

Chr3:121828519

Pathogenic

Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA2567498

rs_201405662

7 SubmittersRCV000329866 RCV000504702 RCV001384418 RCV001535872

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

SNV
Germline

Chr12:88086038

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571

NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)

SNV
Germline

Chr4:39245394

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2892155

rs_200266424

4 SubmittersRCV000391331 RCV000756917 RCV001089411 RCV002519250

NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser)

SNV
Germline

Chr4:39240278

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892066

rs_199904529

4 SubmittersRCV000274698 RCV002519251 RCV001088018

NM_025132.4(WDR19):c.2715G>A (p.Lys905=)

SNV
Germline

Chr4:39245438

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2892166

rs_200339331

5 SubmittersRCV000271288 RCV001089412

NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)

SNV
Germline

Chr1:5905324

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554339

rs_372430727

7 SubmittersRCV000308350 RCV000363050 RCV000400262 RCV001093812 RCV004543090

NM_001128178.3(NPHP1):c.329+1G>A

SNV
Germline

Chr2:110178422

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1827444

rs_376974221

5 SubmittersRCV000351846 RCV001859657 RCV002494861 RCV003469241 RCV003492029

NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)

SNV
Germline

Chr2:110161604

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827170

rs_140469160

6 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382

NM_025132.4(WDR19):c.2361C>T (p.Phe787=)

SNV
Germline

Chr4:39234873

Conflicting classifications of pathogenicity

not specified
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2892056

rs_200133722

8 SubmittersRCV000286180 RCV000365966 RCV000399917 RCV001085843 RCV001701934 RCV002278307

NM_015102.5(NPHP4):c.800A>T (p.His267Leu)

SNV
Germline

Chr1:5952710

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554739

rs_201124357

5 SubmittersRCV000296994 RCV000324865 RCV000377050 RCV001093864 RCV004535409

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

SNV
Germline

Chr2:110163104

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827217

rs_114250691

5 SubmittersRCV000363080 RCV001084490 RCV000765499 RCV004535410

NM_015102.5(NPHP4):c.3168C>T (p.His1056=)

SNV
Germline

Chr1:5874534

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA553773

rs_376351293

5 SubmittersRCV000307652 RCV000638102 RCV001100140 RCV001098357 RCV001726088

NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)

SNV
Germline

Chr1:5890913

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554221

rs_199628481

4 SubmittersRCV000298397 RCV000296052 RCV000400933 RCV001093807 RCV004535429

NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)

SNV
Germline

Chr1:5880206

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA554073

rs_147588666

6 SubmittersRCV000334924 RCV000861203 RCV001102311 RCV001102312 RCV001354108 RCV002518104

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

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

Joubert syndrome 5
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
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_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)

SNV
Germline

Chr1:5877257

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553978

rs_112206586

4 SubmittersRCV000284900 RCV000765251 RCV001086833 RCV004537620

NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)

SNV
Germline

Chr1:243271035

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483252

rs_140413256

4 SubmittersRCV000276217 RCV000389243 RCV000872197 RCV003224254 RCV004537662

NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)

SNV
Germline

Chr1:243293116

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Condition: not provided
Senior-Loken syndrome 7
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483350

rs_150070966

5 SubmittersRCV000342454 RCV000522463 RCV000399034 RCV000763845 RCV004537663

NM_006642.5(SDCCAG8):c.*97G>A

SNV
Germline

Chr1:243499882

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA10609951

rs_554190542

1 SubmittersRCV000353118 RCV000402375

NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=)

SNV
Germline

Chr1:5874891

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553843

rs_762202268

2 SubmittersRCV000272007 RCV000329409 RCV003748219

NM_015102.5(NPHP4):c.1065G>A (p.Ala355=)

SNV
Germline

Chr1:5947158

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10610219

rs_562484051

2 SubmittersRCV000313161 RCV000365411 RCV001363261

NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=)

SNV
Germline

Chr1:5865156

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA553478

rs_762953303

3 SubmittersRCV000287037 RCV000344394 RCV001850566 RCV002480081

NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)

SNV
Germline

Chr1:5865160

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
NPHP4-related disorder
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553479

rs_560944258

5 SubmittersRCV000290652 RCV000382692 RCV000729809 RCV004543176 RCV002059490

NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)

SNV
Germline

Chr1:5865213

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553494

rs_199925943

4 SubmittersRCV000312869 RCV000352075 RCV000595182 RCV001093796 RCV004543177

NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)

SNV
Germline

Chr2:110123893

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1826844

rs_200631256

4 SubmittersRCV000310472 RCV000365164 RCV000401330 RCV000730798 RCV001094594 RCV004544604

NM_015102.5(NPHP4):c.1047C>T (p.Val349=)

SNV
Germline

Chr1:5947176

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554656

rs_560597983

3 SubmittersRCV000273284 RCV000307384 RCV001436222 RCV004537681

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

SNV
Germline

Chr2:110143602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827002

rs_149887461

7 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 RCV004544605

NM_015102.5(NPHP4):c.6C>T (p.Asn2=)

SNV
Germline

Chr1:5986284

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554968

rs_371472576

2 SubmittersRCV000267615 RCV000301621 RCV001406447

NM_006642.5(SDCCAG8):c.306+11A>G

SNV
Germline

Chr1:243271074

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483265

rs_781456866

3 SubmittersRCV000281933 RCV000318325 RCV002487315

NM_006642.5(SDCCAG8):c.348C>T (p.His116=)

SNV
Germline

Chr1:243274584

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483285

rs_143226730

2 SubmittersRCV000282826 RCV000377375 RCV000872159

NM_006642.5(SDCCAG8):c.676-4A>G

SNV
Germline

Chr1:243304709

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483400

rs_377256554

2 SubmittersRCV000288842 RCV000343855 RCV001493922

NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=)

SNV
Germline

Chr1:243344262

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483636

rs_759125934

2 SubmittersRCV000321346 RCV000380673 RCV003765736

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

SNV
Germline

Chr2:110169872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827390

rs_143163969

2 SubmittersRCV000267804 RCV000315824 RCV000378671 RCV001487646

NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)

SNV
Germline

Chr1:5880168

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
not specified
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554063

rs_199875059

3 SubmittersRCV000330012 RCV000384597 RCV000593971 RCV001093852

NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg)

SNV
Germline

Chr1:5890912

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554220

rs_373962831

3 SubmittersRCV000283252 RCV000338114 RCV000592408 RCV001379795

NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)

SNV
Germline

Chr1:5927682

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Inborn genetic diseases
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554528

rs_367686843

7 SubmittersRCV000289380 RCV000325654 RCV000592347 RCV001320330 RCV002494924 RCV004021448 RCV004544495

NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)

SNV
Germline

Chr1:5933253

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
not specified
Condition: not provided
Nephronophthisis
Kidney disorder
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554598

rs_117898549

6 SubmittersRCV000340961 RCV000389927 RCV000523327 RCV000766889 RCV001257066 RCV002294254 RCV004537680

NM_015102.5(NPHP4):c.3723C>T (p.Val1241=)

SNV
Germline

Chr1:5865195

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553489

rs_375485412

3 SubmittersRCV000347891 RCV000401689 RCV001481274 RCV004537676

NM_015102.5(NPHP4):c.3645-15C>T

SNV
Germline

Chr1:5865288

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553511

rs_558429618

4 SubmittersRCV000263212 RCV000355588 RCV001699291 RCV002059491

NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)

SNV
Germline

Chr1:5866405

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553535

rs_374003717

5 SubmittersRCV000302018 RCV000359177 RCV000595577 RCV001093845 RCV004543178

NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)

SNV
Germline

Chr1:5904645

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4
Condition: not provided
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554270

rs_200848754

5 SubmittersRCV000324605 RCV000379250 RCV001093915 RCV001706444 RCV004543179

NM_015102.5(NPHP4):c.1764-5C>T

SNV
Germline

Chr1:5905488

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554372

rs_370899989

6 SubmittersRCV000264546 RCV000359321 RCV000595101 RCV001093860 RCV004537679

NM_015102.5(NPHP4):c.1668C>T (p.Thr556=)

SNV
Germline

Chr1:5905727

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554412

rs_753733095

2 SubmittersRCV000319687 RCV000355974 RCV001093919

NM_015102.5(NPHP4):c.136-12G>C

SNV
Germline

Chr1:5978425

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554920

rs_371432148

2 SubmittersRCV000347268 RCV000390158 RCV001454995

NM_015102.5(NPHP4):c.-90A>T

SNV
Germline

Chr1:5992295

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA10611504

rs_527962872

1 SubmittersRCV000319568 RCV000371989

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

SNV
Germline

Chr2:110163106

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827219

rs_141763330

3 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593

NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)

SNV
Germline

Chr3:121770531

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2567043

rs_373762948

2 SubmittersRCV000353462 RCV002057823

NM_001023570.4(IQCB1):c.877-11C>T

SNV
Germline

Chr3:121795577

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2567259

rs_192296154

2 SubmittersRCV000321425 RCV001510260

NM_001023570.4(IQCB1):c.348A>G (p.Leu116=)

SNV
Germline

Chr3:121826096

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA2567463

rs_139299149

3 SubmittersRCV000395791 RCV002057826 RCV003957770

NM_001023570.4(IQCB1):c.714T>C (p.Ala238=)

SNV
Germline

Chr3:121799248

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10616894

rs_886057828

2 SubmittersRCV000341381 RCV002523238

NM_001023570.4(IQCB1):c.1129+13A>G

SNV
Germline

Chr3:121790060

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2567196

rs_371443898

2 SubmittersRCV000271044 RCV002057824

NM_025132.4(WDR19):c.1173C>T (p.Asn391=)

SNV
Germline

Chr4:39216134

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2891791

rs_777985189

3 SubmittersRCV000342172 RCV000393193 RCV003766008 RCV004530410

NM_025132.4(WDR19):c.1357-7G>A

SNV
Germline

Chr4:39217976

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2891833

rs_377101599

3 SubmittersRCV000270771 RCV000365336 RCV000955100 RCV004530411

NM_025132.4(WDR19):c.3358+15C>T

SNV
Germline

Chr4:39268106

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892343

rs_750722358

2 SubmittersRCV000303611 RCV000356095 RCV002057927

NM_025132.4(WDR19):c.198A>T (p.Gly66=)

SNV
Germline

Chr4:39189689

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2891563

rs_749815295

2 SubmittersRCV000347534 RCV000395136 RCV002520238

NM_025132.4(WDR19):c.1248T>C (p.Asn416=)

SNV
Germline

Chr4:39216209

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia
Jeune thoracic dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13
Cranioectodermal dysplasia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2891800

rs_772867899

4 SubmittersRCV000298705 RCV000400723 RCV001850849 RCV002480216 RCV004021962

NM_025132.4(WDR19):c.1839A>G (p.Leu613=)

SNV
Germline

Chr4:39228547

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2891949

rs_201320006

2 SubmittersRCV000280416 RCV000374932 RCV000895575

NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)

SNV
Germline

Chr4:39266128

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
not specified
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2892303

rs_371128500

6 SubmittersRCV000289800 RCV000347138 RCV001699383 RCV001726139 RCV001519086 RCV002278579

NM_025132.4(WDR19):c.6+5A>G

SNV
Germline

Chr4:39182568

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2891496

rs_201198839

2 SubmittersRCV000292560 RCV000386870 RCV002057925

NM_025132.4(WDR19):c.523-3T>C

SNV
Germline

Chr4:39203639

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Condition: not provided
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2891656

rs_747603843

5 SubmittersRCV000308025 RCV000344185 RCV000531768 RCV001700077 RCV004544650

NM_025132.4(WDR19):c.1249+9A>G

SNV
Germline

Chr4:39216219

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Cranioectodermal dysplasia
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2891801

rs_201377206

3 SubmittersRCV000353502 RCV000401556 RCV000878418 RCV002278577

NM_025132.4(WDR19):c.1932G>A (p.Thr644=)

SNV
Germline

Chr4:39228640

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA10620972

rs_886059398

2 SubmittersRCV000335670 RCV000397851 RCV002523470

NM_025132.4(WDR19):c.1134+13T>G

SNV
Germline

Chr4:39216026

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2891781

rs_374615138

2 SubmittersRCV000286504 RCV000380856 RCV002057926

NM_025132.4(WDR19):c.2364-15T>C

SNV
Germline

Chr4:39240262

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892063

rs_771036360

2 SubmittersRCV000266893 RCV000324388 RCV001429588

NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)

SNV
Germline

Chr4:39268016

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Retinal dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892327

rs_769329045

3 SubmittersRCV000341521 RCV000390270 RCV001074268 RCV001413120

NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)

SNV
Germline

Chr4:39274909

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2892440

rs_201597047

5 SubmittersRCV000288576 RCV000385239 RCV000488404 RCV001083150 RCV004530412

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

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

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

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

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000299546 RCV000335728 RCV000398619 RCV000305920 RCV000728042 RCV001079199 RCV000360538

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

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000330322 RCV000338378 RCV000372028 RCV000387258 RCV000422198 RCV004537755

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

SNV
Germline

Chr12:88049259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747

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

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000283328 RCV000322071 RCV000270876 RCV000380635 RCV000729391 RCV000323734 RCV001409432

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

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

3 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200

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

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000272452 RCV000321121 RCV000324529 RCV000267083 RCV000378166 RCV001513375

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

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

6 SubmittersRCV000310425 RCV000307295 RCV000365084 RCV000371328 RCV000400672 RCV001562789 RCV001252733 RCV000861492 RCV002467728 RCV003888723

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000382505 RCV000386249 RCV001421212 RCV000352716

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

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721

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

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336

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

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

4 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001273072 RCV001347081

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

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

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

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

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544

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

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV002461069 RCV000860718 RCV001833458 RCV002467729

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

SNV
Germline

Chr12:88141905

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749

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

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000272744 RCV000287480 RCV000376587 RCV000382304 RCV000981128 RCV000327713

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

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

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

NM_025114.4(CEP290):c.-38G>C

SNV
Germline

Chr12:88141910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10643431

rs_886049886

2 SubmittersRCV000269659 RCV000277677 RCV000326938 RCV000366586 RCV000388544 RCV004537754

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

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

7 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001110658 RCV001109869 RCV001275045 RCV001252443 RCV001109866 RCV001109867 RCV004530521

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

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV000417476 RCV000765111 RCV001245037 RCV001276484 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
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899

NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)

SNV
Germline

Chr4:39244515

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
not specified
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2892126

rs_201963605

6 SubmittersRCV000486591 RCV001146437 RCV001078579 RCV001146438 RCV001821402 RCV004535530

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

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy
Leber congenital amaurosis
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
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_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)

SNV
Germline

Chr1:243308026

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Condition: not provided
Kidney disorder
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483446

rs_201869920

7 SubmittersRCV000504492 RCV000704873 RCV001095982 RCV001095981 RCV001700134 RCV002294338 RCV004535620

NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)

SNV
Germline

Chr4:39255854

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Condition: not provided
Connective tissue disorder
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2892240

rs_201354264

7 SubmittersRCV000500098 RCV000951959 RCV001149215 RCV001149216 RCV001532019 RCV002279282 RCV004541573

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

SNV
Germline

Chr12:88125370

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

4 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093

NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)

SNV
Germline

Chr4:39268041

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Criteria Provided
Conflicting Classifications

CA2892335

rs_567310076

3 SubmittersRCV001227801 RCV001811019 RCV002481645

NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)

SNV
Germline

Chr4:39205726

Pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA2891724

rs_377160857

3 SubmittersRCV000516052 RCV001851417

NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)

SNV
Germline

Chr4:39224887

Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA356631901

rs_1215108056

3 SubmittersRCV000516069 RCV001316218

NM_025132.4(WDR19):c.3484-2A>C

SNV
Germline

Chr4:39272978

Likely pathogenic

Type IV short rib polydactyly syndrome
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA356647016

rs_1553918403

3 SubmittersRCV000515847 RCV001851418

NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)

SNV
Germline

Chr3:121772566

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA2567069

rs_779858591

5 SubmittersRCV000521100 RCV001331479 RCV001851495 RCV003935382

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

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660

NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)

SNV
Germline

Chr1:243489095

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483825

rs_191821211

2 SubmittersRCV000554480 RCV001099654 RCV001097855

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

SNV
Germline

Chr12:88060995

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV001110659 RCV001110660 RCV001112628 RCV001821528 RCV000550067 RCV001112627 RCV001112629 RCV003889921

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

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711500

rs_184323010

4 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187

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

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV000542843 RCV000787558 RCV001199655 RCV001091342 RCV002289749 RCV002497107

NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter)

SNV
Germline

Chr1:243415802

Pathogenic/Likely pathogenic

Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA345667298

rs_1286714661

2 SubmittersRCV000579189 RCV002530371

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

SNV
Germline

Chr12:88083029

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003465334 RCV003485612

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

SNV
Germline

Chr12:88058868

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Kidney disorder
CEP290-related disorder
Leber congenital amaurosis 10
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

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002294351 RCV002282253 RCV002250666 RCV002506412 RCV003459464

NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)

SNV
Germline

Chr1:5904749

Pathogenic

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
NPHP4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA17124406

rs_1025515771

4 SubmittersRCV000594142 RCV001381479 RCV002497256 RCV004530676

NM_001128178.3(NPHP1):c.772-5T>C

SNV
Germline

Chr2:110163140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827225

rs_201478764

3 SubmittersRCV000592386 RCV001134447 RCV001134448 RCV001134446 RCV003748247

NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)

SNV
Germline

Chr1:5904731

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554298

rs_547495754

4 SubmittersRCV000596610 RCV001002694 RCV001416064 RCV002286526

NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)

SNV
Germline

Chr1:5867795

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA553621

rs_371527260

3 SubmittersRCV000594476 RCV001305765 RCV002497261

NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)

SNV
Germline

Chr1:5904739

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554299

rs_375416303

4 SubmittersRCV000595006 RCV000862361 RCV001097015 RCV001097016 RCV004543360

NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)

SNV
Germline

Chr1:5873275

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA553715

rs_41280798

4 SubmittersRCV000597836 RCV000638099 RCV000765245 RCV001096629

NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)

SNV
Germline

Chr1:5867848

Conflicting classifications of pathogenicity

Condition: not provided
NPHP4-related disorder
Nephronophthisis
Retinal dystrophy
Nephronophthisis 4
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA553638

rs_375836844

6 SubmittersRCV000595557 RCV000778988 RCV001055295 RCV001074439 RCV001335698 RCV002476329

NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)

SNV
Germline

Chr1:5874527

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA553770

rs_202004152

10 SubmittersRCV000592906 RCV000765247 RCV001054486 RCV001098354 RCV001098353

NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)

SNV
Germline

Chr1:5948160

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554706

rs_527701970

3 SubmittersRCV000593557 RCV001100782 RCV001100783 RCV001509677

NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)

SNV
Germline

Chr3:121781790

Pathogenic

Renal dysplasia and retinal aplasia
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA82725920

rs_866982675

3 SubmittersRCV000615076 RCV002529304 RCV004568321

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

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

7 SubmittersRCV000636983 RCV000763317 RCV001356853 RCV001274130 RCV003459522

NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)

SNV
Germline

Chr4:39225027

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_771148519

3 SubmittersRCV000754959 RCV002499193 RCV003106018

NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)

SNV
Germline

Chr3:121790208

Pathogenic

Retinal dystrophy
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1189889920

3 SubmittersRCV000678581 RCV001855625 RCV003465543

NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)

SNV
Germline

Chr1:5986157

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_370210428

4 SubmittersRCV000681812 RCV001237139 RCV003453402

NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)

SNV
Germline

Chr4:39185733

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

rs_1237494778

4 SubmittersRCV000681867 RCV001074270 RCV001212612 RCV003319401

NM_006642.5(SDCCAG8):c.546+1G>A

SNV
Germline

Chr1:243286398

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_756907665

2 SubmittersRCV000685971 RCV004535707

NM_001128178.3(NPHP1):c.1761+5A>C

SNV
Germline

Chr2:110125632

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

rs_201030203

3 SubmittersRCV000685833 RCV001128700 RCV001128701 RCV001128702 RCV004544942

NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)

SNV
Germline

Chr2:110161686

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_765263671

4 SubmittersRCV000702943 RCV001200637 RCV002507229 RCV003472242

NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)

SNV
Germline

Chr3:121772620

Pathogenic

Nephronophthisis
Retinal dystrophy
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1280238814

3 SubmittersRCV000689770 RCV001075298 RCV003459679

NM_025132.4(WDR19):c.1982+2T>C

SNV
Germline

Chr4:39228692

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

rs_780847651

1 SubmittersRCV000688346

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

SNV
Germline

Chr12:88130553

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

rs_201569048

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

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

SNV
Germline

Chr12:88111318

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753884599

5 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647

NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)

SNV
Germline

Chr1:243270236

Pathogenic

Condition: not provided
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

rs_756518004

2 SubmittersRCV000723068 RCV001868922

NM_015102.5(NPHP4):c.2485+9C>A

SNV
Germline

Chr1:5887277

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

rs_200952409

3 SubmittersRCV000729591 RCV001087806 RCV001102315 RCV001102316

NM_015102.5(NPHP4):c.870C>T (p.Gly290=)

SNV
Germline

Chr1:5948192

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

rs_749844096

3 SubmittersRCV000729600 RCV001359189 RCV002499350

NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)

SNV
Germline

Chr1:5874528

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
not specified

Criteria Provided
Conflicting Classifications

rs_374354239

5 SubmittersRCV000730710 RCV001084823 RCV001098356 RCV001098355 RCV001700454

NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)

SNV
Germline

Chr2:110169913

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1349732291

3 SubmittersRCV000730826 RCV002493328 RCV003748273

NM_015102.5(NPHP4):c.2931G>A (p.Thr977=)

SNV
Germline

Chr1:5874987

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

rs_756370084

3 SubmittersRCV000731576 RCV001312906 RCV002493336

NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)

SNV
Germline

Chr1:5927733

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1210874691

3 SubmittersRCV000731877 RCV000796841 RCV002485904

NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp)

SNV
Germline

Chr1:5880212

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1233207932

4 SubmittersRCV000732748 RCV001238590 RCV002477718 RCV004027044

NM_015102.5(NPHP4):c.619C>T (p.Leu207=)

SNV
Germline

Chr1:5961848

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_765514910

3 SubmittersRCV000735118 RCV002507312 RCV002535417

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

SNV
Germline

Chr2:110164685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1365022834

3 SubmittersRCV000735157 RCV002507313 RCV002535419

NM_025132.4(WDR19):c.1030C>G (p.His344Asp)

SNV
Germline

Chr4:39215909

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_76599296

3 SubmittersRCV000756915 RCV001087115 RCV002279517

NM_025132.4(WDR19):c.2577G>A (p.Ala859=)

SNV
Germline

Chr4:39244484

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

rs_753596825

3 SubmittersRCV000756914 RCV001146436 RCV001146435 RCV001483312

NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu)

SNV
Germline

Chr4:39274949

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141039852

2 SubmittersRCV001079233 RCV001811471

NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)

SNV
Germline

Chr4:39205191

Conflicting classifications of pathogenicity

WDR19-related disorder
Retinal dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

rs_751290509

7 SubmittersRCV000779440 RCV001074152 RCV001387309 RCV001701316 RCV002225117

NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter)

SNV
Germline

Chr4:39255958

Conflicting classifications of pathogenicity

WDR19-related disorder
Senior-Loken syndrome 8
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

rs_748174246

3 SubmittersRCV000779442 RCV001281117 RCV001856174

NM_006642.5(SDCCAG8):c.220+2T>C

SNV
Germline

Chr1:243270259

Conflicting classifications of pathogenicity

SDCCAG8-related disorder
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

rs_757796329

2 SubmittersRCV000778231 RCV001378522

NM_006642.5(SDCCAG8):c.675+1G>A

SNV
Germline

Chr1:243293220

Conflicting classifications of pathogenicity

SDCCAG8-related disorder
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

rs_1022080658

2 SubmittersRCV000778232 RCV002535630

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

SNV
Germline

Chr12:88077345

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_968692633

9 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318

NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr1:5867887

Pathogenic/Likely pathogenic

Nephronophthisis
Nephronophthisis 4
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_758275952

3 SubmittersRCV000792272 RCV001730711 RCV002487641

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

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_778030031

5 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535

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

SNV
Germline

Chr12:88118549

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760415289

7 SubmittersRCV000810414 RCV001274127 RCV001091339 RCV002487758 RCV003467439

NM_006642.5(SDCCAG8):c.307-1G>A

SNV
Germline

Chr1:243274542

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

rs_1460888769

1 SubmittersRCV000804204

NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)

SNV
Germline

Chr1:5873300

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

rs_187149431

2 SubmittersRCV000864108 RCV001096630 RCV001096631

NM_015102.5(NPHP4):c.2781C>T (p.Ala927=)

SNV
Germline

Chr1:5877129

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_199875603

3 SubmittersRCV000861363 RCV001102216 RCV001102217 RCV004540153

NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)

SNV
Germline

Chr1:5986283

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Retinal dystrophy
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_145078518

4 SubmittersRCV001099065 RCV000861300 RCV001075647 RCV001099064 RCV004538177

NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)

SNV
Germline

Chr3:121797212

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 5
Condition: not provided
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

rs_199959360

5 SubmittersRCV000861997 RCV001144731 RCV001701452 RCV003908168

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

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

rs_200454865

7 SubmittersRCV000860704 RCV001112276 RCV001111804 RCV001111805 RCV001111806 RCV001275033 RCV001111807 RCV001546810 RCV004538174

NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=)

SNV
Germline

Chr1:5874597

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_151151838

4 SubmittersRCV000866116 RCV001100144 RCV001100143 RCV001700474 RCV001726351

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

Criteria Provided
Conflicting Classifications

rs_370464321

3 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057

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

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_757738553

3 SubmittersRCV001110312 RCV001110314 RCV001110313 RCV004538287 RCV000869753 RCV001110315 RCV001110316

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

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_546463648

4 SubmittersRCV001113520 RCV001275027 RCV004540210 RCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519

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

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_147362398

6 SubmittersRCV000864755 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001111623 RCV001275029 RCV002294390 RCV003889993 RCV004538226

NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)

SNV
Germline

Chr1:243307992

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

rs_138449445

2 SubmittersRCV000873954 RCV001095980 RCV001095979

NM_006642.5(SDCCAG8):c.1474-6C>T

SNV
Germline

Chr1:243378715

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376414138

5 SubmittersRCV000873379 RCV001099562 RCV001101536 RCV001701459

NM_025132.4(WDR19):c.1566C>T (p.Pro522=)

SNV
Germline

Chr4:39224970

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

rs_200692490

2 SubmittersRCV000951175 RCV001144396 RCV001150486

NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)

SNV
Germline

Chr4:39245425

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Connective tissue disorder
Condition: not provided
WDR19-related disorder

Criteria Provided
Conflicting Classifications

rs_76326086

5 SubmittersRCV000949194 RCV002279655 RCV003106084 RCV004543559

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

Criteria Provided
Conflicting Classifications

rs_372986399

4 SubmittersRCV000915534 RCV001110040 RCV001114082 RCV001110041 RCV001110042 RCV001272014 RCV001110043 RCV004533513

NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)

SNV
Germline

Chr4:39228355

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

rs_190192706

2 SubmittersRCV000981651 RCV001146290 RCV001146291

NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)

SNV
Germline

Chr1:5874988

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

rs_569364202

3 SubmittersRCV001002718 RCV001442994 RCV002279703

NM_001023570.4(IQCB1):c.488-1G>A

SNV
Germline

Chr3:121807444

Pathogenic

Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_779696701

3 SubmittersRCV001002717

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

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)

SNV
Germline

Chr1:243304733

Pathogenic/Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_772544112

3 SubmittersRCV001049952 RCV002469330

NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln)

SNV
Germline

Chr1:243344287

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
not specified
Kidney disorder
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

rs_556191085

4 SubmittersRCV001049051 RCV001819763 RCV002294436 RCV004528356

NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)

SNV
Germline

Chr1:243417986

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

rs_2080721288

1 SubmittersRCV001040226

NM_015102.5(NPHP4):c.2718C>T (p.Arg906=)

SNV
Germline

Chr1:5877192

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_576473519

3 SubmittersRCV001049173 RCV002489608 RCV004536094

NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)

SNV
Germline

Chr2:110123939

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1311042980

3 SubmittersRCV001059818 RCV003467802 RCV002497439

NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr2:110165137

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753517219

3 SubmittersRCV001039504 RCV002505566 RCV003461446

NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr3:121772658

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_778777318

4 SubmittersRCV001041746 RCV001147492 RCV003243418

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

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199583200

5 SubmittersRCV001057249 RCV001111724 RCV001111726 RCV001111727 RCV001562596 RCV001832517 RCV001111723 RCV001111725 RCV004536115

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

SNV
Germline

Chr12:88136717

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770126103

5 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003462577 RCV003228800

NM_025132.4(WDR19):c.961+2T>C

SNV
Germline

Chr4:39214673

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Spermatogenic failure 72

Criteria Provided
Multiple Submitters
No Conflicts

rs_1728876351

2 SubmittersRCV001043448 RCV002481903

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

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

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_368984997

4 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004536141

NM_015102.5(NPHP4):c.2673A>G (p.Leu891=)

SNV
Germline

Chr1:5877237

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_974196549

2 SubmittersRCV001098575 RCV001098576 RCV002556006

NM_015102.5(NPHP4):c.2490C>T (p.His830=)

SNV
Germline

Chr1:5880235

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_549982601

2 SubmittersRCV001102313 RCV001102314 RCV001397878

NM_006642.5(SDCCAG8):c.420+12A>G

SNV
Germline

Chr1:243274668

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

rs_2068379887

2 SubmittersRCV001099443 RCV001099442 RCV003769063

NM_006642.5(SDCCAG8):c.741-7T>C

SNV
Germline

Chr1:243307982

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

rs_755931555

2 SubmittersRCV001095977 RCV001095978 RCV002554887

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

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752046733

2 SubmittersRCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001112803 RCV001462557

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

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_777353443

2 SubmittersRCV001110128 RCV001110127 RCV001110125 RCV001110126 RCV001110129 RCV002067798

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

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1159465602

2 SubmittersRCV001113347 RCV001113346 RCV001114719 RCV001114717 RCV001114718 RCV001400067

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

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200587974

6 SubmittersRCV001109862 RCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001244757 RCV001279936 RCV002497520 RCV003227912 RCV004538332

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_886049885

2 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187

NM_001128178.3(NPHP1):c.*194T>C

SNV
Germline

Chr2:110123597

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_189472793

1 SubmittersRCV001135697 RCV001135695 RCV001135696

NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)

SNV
Germline

Chr2:110178512

Conflicting classifications of pathogenicity

Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

rs_767719020

3 SubmittersRCV001136002 RCV001136003 RCV001136004 RCV001412525 RCV004545078

NM_001128178.3(NPHP1):c.1716+15T>C

SNV
Germline

Chr2:110129171

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_368590150

2 SubmittersRCV001131331 RCV001131332 RCV001134326 RCV001856698

NM_001128178.3(NPHP1):c.771+178C>T

SNV
Germline

Chr2:110164510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_767903893

2 SubmittersRCV001134449 RCV001134450 RCV001134451 RCV001481343

NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)

SNV
Germline

Chr3:121770486

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1399676175

2 SubmittersRCV001146576 RCV002070777

NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)

SNV
Germline

Chr3:121781760

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_147708058

2 SubmittersRCV001147494 RCV002032375

NM_025132.4(WDR19):c.822T>C (p.His274=)

SNV
Germline

Chr4:39205668

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

rs_750215526

2 SubmittersRCV001144283 RCV001144284 RCV002070740

NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)

SNV
Germline

Chr4:39240299

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided
WDR19-related disorder

Criteria Provided
Conflicting Classifications

rs_187332731

4 SubmittersRCV001144508 RCV001144507 RCV001437182 RCV003142079 RCV004538367

NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)

SNV
Germline

Chr4:39255888

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

rs_761990492

2 SubmittersRCV001150719 RCV001150720 RCV002557249

NM_025132.4(WDR19):c.3483+11T>C

SNV
Germline

Chr4:39270111

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

rs_766475725

2 SubmittersRCV001149320 RCV001149321 RCV001402985

NM_025132.4(WDR19):c.3484-15T>C

SNV
Germline

Chr4:39272965

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

rs_376870184

2 SubmittersRCV001149322 RCV001149323 RCV002070811

NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)

SNV
Germline

Chr1:5986278

Pathogenic/Likely pathogenic

Senior-Loken syndrome 4
Kidney disorder
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_780905861

3 SubmittersRCV001197495 RCV002294447 RCV003117841

NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)

SNV
Germline

Chr3:121797132

Pathogenic/Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1949225959

2 SubmittersRCV001212634 RCV003462714

NM_006642.5(SDCCAG8):c.221-1G>A

SNV
Germline

Chr1:243270977

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

rs_2068036602

1 SubmittersRCV001207765

NM_001128178.3(NPHP1):c.771+169G>T

SNV
Germline

Chr2:110164519

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Joubert syndrome and related disorders

Criteria Provided
Conflicting Classifications

rs_150520157

4 SubmittersRCV001203841 RCV001535975 RCV003462683 RCV003226442

NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)

SNV
Germline

Chr4:39189766

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

rs_926405916

1 SubmittersRCV001235420

NM_025132.4(WDR19):c.1479T>C (p.Asp493=)

SNV
Germline

Chr4:39218105

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
WDR19-related disorder

Criteria Provided
Conflicting Classifications

rs_1207013785

2 SubmittersRCV001229171 RCV004545134

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

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_886042467

2 SubmittersRCV001237935 RCV002504334

NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=)

SNV
Germline

Chr1:243256239

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

rs_764668676

2 SubmittersRCV001245263 RCV004538516

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

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200969981

8 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004538510 RCV004577955

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

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524

NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)

SNV
Germline

Chr4:39253157

Likely pathogenic

Senior-Loken syndrome 8
Saldino-Mainzer syndrome
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

rs_766616967

3 SubmittersRCV001281116 RCV001290088 RCV002251761

NM_025132.4(WDR19):c.2646-2A>G

SNV
Germline

Chr4:39245367

Likely pathogenic

Inborn genetic diseases
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_890152763

2 SubmittersRCV001265913 RCV001880103

NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro)

SNV
Germline

Chr4:39253920

Conflicting classifications of pathogenicity

Inborn genetic diseases
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

rs_1733504639

2 SubmittersRCV001265914 RCV001880104

NM_025132.4(WDR19):c.1778-1G>A

SNV
Germline

Chr4:39228485

Likely pathogenic

Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1730515128

2 SubmittersRCV001812343 RCV001871671

NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)

SNV
Germline

Chr1:243274633

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_768207230

2 SubmittersRCV002932081 RCV002932082

NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)

SNV
Germline

Chr4:39244290

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

rs_138364911

2 SubmittersRCV001313901 RCV002476453

NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)

SNV
Germline

Chr2:110131733

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_547352656

3 SubmittersRCV001332330 RCV001382647 RCV001536104

NM_006642.5(SDCCAG8):c.1985+1G>T

SNV
Germline

Chr1:243426559

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_752046196

2 SubmittersRCV001998335 RCV004529074

NM_025132.4(WDR19):c.3184-2A>C

SNV
Germline

Chr4:39266061

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Renal dysplasia and retinal aplasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1020915921

2 SubmittersRCV001970776 RCV003324579

NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)

SNV
Germline

Chr2:110123818

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_151120697

2 SubmittersRCV001371820 RCV002488174

NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter)

SNV
Germline

Chr3:121808990

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

rs_2108595322

1 SubmittersRCV001376428

NM_006642.5(SDCCAG8):c.547-1G>A

SNV
Germline

Chr1:243293090

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

rs_2070433656

1 SubmittersRCV001377051

NM_025132.4(WDR19):c.1357-2A>T

SNV
Germline

Chr4:39217981

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

rs_1221444922

1 SubmittersRCV001377034

NM_025132.4(WDR19):c.1479+2T>C

SNV
Germline

Chr4:39218107

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

rs_756329385

1 SubmittersRCV001379131

NM_025132.4(WDR19):c.3262-2A>G

SNV
Germline

Chr4:39267993

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

rs_753291151

1 SubmittersRCV001379466

NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)

SNV
Germline

Chr1:243308032

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

rs_149038104

2 SubmittersRCV001382396

NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)

SNV
Germline

Chr1:243330618

Pathogenic/Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

rs_964673995

2 SubmittersRCV001384058

NM_025132.4(WDR19):c.388C>T (p.Arg130Ter)

SNV
Germline

Chr4:39194641

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

rs_778039192

1 SubmittersRCV001383659

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

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_779645669

4 SubmittersRCV001381486 RCV001836389 RCV003156344 RCV002476720

NM_015102.5(NPHP4):c.3644+1G>T

SNV
Germline

Chr1:5866372

Pathogenic/Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_756111113

2 SubmittersRCV001536003 RCV001882599

NM_015102.5(NPHP4):c.1504-1G>A

SNV
Unknown

Chr1:5907223

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

rs_1204924769

1 SubmittersRCV001535885

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138086844

4 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860

NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)

SNV
Germline

Chr4:39244311

Pathogenic/Likely pathogenic

Cone dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_775181779

3 SubmittersRCV001591895 RCV002501946 RCV002571163

NM_006642.5(SDCCAG8):c.1356+1G>C

SNV
Germline

Chr1:243341174

Likely pathogenic

Bardet-Biedl syndrome
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147782314

2 SubmittersRCV001779472 RCV002541103

NM_001023570.4(IQCB1):c.767-2A>G

SNV
Germline

Chr3:121797229

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

rs_2108566215

1 SubmittersRCV001808054

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

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936

NM_025132.4(WDR19):c.3483+1G>C

SNV
Germline

Chr4:39270101

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

rs_2109497413

1 SubmittersRCV002024085

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

SNV
Germline

Chr12:88141204

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_763226787

4 SubmittersRCV002027685 RCV003226528 RCV002498073 RCV003471280

NM_025132.4(WDR19):c.717-1G>C

SNV
Germline

Chr4:39205562

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

rs_2109300967

1 SubmittersRCV002010585

NM_025132.4(WDR19):c.3184-2A>G

SNV
Germline

Chr4:39266061

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

rs_1020915921

1 SubmittersRCV002050681

NM_006642.5(SDCCAG8):c.1745-2A>G

SNV
Germline

Chr1:243417966

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

rs_1442457872

1 SubmittersRCV002047017

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

SNV
Germline

Chr12:88120996

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_935130451

3 SubmittersRCV002017506 RCV002507780 RCV003471253

NM_001128178.3(NPHP1):c.729-2A>G

SNV
Germline

Chr2:110164732

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_773781058

3 SubmittersRCV002011188 RCV002492327 RCV003471256

NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)

SNV
Germline

Chr4:39278635

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

rs_763555032

2 SubmittersRCV001910564 RCV002484542

NM_025132.4(WDR19):c.441G>A (p.Trp147Ter)

SNV
Germline

Chr4:39199512

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
WDR19-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1273811425

2 SubmittersRCV002007147 RCV004542198

NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr1:243271007

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

rs_201658593

1 SubmittersRCV001932690

NM_001023570.4(IQCB1):c.588-2A>G

SNV
Germline

Chr3:121799376

Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1250919247

2 SubmittersRCV002027849 RCV003471283

NM_025132.4(WDR19):c.234C>A (p.Cys78Ter)

SNV
Germline

Chr4:39189725

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

rs_1232301082

1 SubmittersRCV001946837

NM_001128178.3(NPHP1):c.143+1G>C

SNV
Germline

Chr2:110201420

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_745806504

3 SubmittersRCV001970457 RCV002497908 RCV003471207

NM_025132.4(WDR19):c.1778-2A>C

SNV
Germline

Chr4:39228484

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

rs_1730514795

1 SubmittersRCV002029683

NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)

SNV
Germline

Chr2:110168477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373951297

3 SubmittersRCV002049316 RCV002489940 RCV002545704

NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)

SNV
Germline

Chr3:121781820

Pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_867772426

2 SubmittersRCV001956492 RCV003475250

NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)

SNV
Germline

Chr2:110131704

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1266229950

2 SubmittersRCV001984761 RCV002484661

NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)

SNV
Germline

Chr4:39268052

Pathogenic/Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1401145684

2 SubmittersRCV001890451 RCV002503474

NM_025132.4(WDR19):c.890+1G>T

SNV
Germline

Chr4:39205737

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

rs_1338996032

1 SubmittersRCV001978430

NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys)

SNV
Germline

Chr4:39224887

Pathogenic

Senior-Loken syndrome 8

No Assertion Criteria Provided

rs_1215108056

1 SubmittersRCV002248393

NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)

SNV
Germline

Chr4:39205595

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV002585060

NM_006642.5(SDCCAG8):c.1068+1G>A

SNV
Germline

Chr1:243316894

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV002651436

NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)

SNV
Germline

Chr1:243256219

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV002602013

NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)

SNV
Germline

Chr1:243286374

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV002587370

NM_006642.5(SDCCAG8):c.420+1G>C

SNV
Germline

Chr1:243274657

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV002775143

NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)

SNV
Germline

Chr4:39278539

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002770803 RCV003434508

NM_006642.5(SDCCAG8):c.1853+2T>A

SNV
Germline

Chr1:243418078

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV002811519

NM_006642.5(SDCCAG8):c.1617-1G>A

SNV
Germline

Chr1:243415701

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV002796068

NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)

SNV
Germline

Chr1:243308097

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV002842727

NM_025132.4(WDR19):c.3483+1G>A

SNV
Germline

Chr4:39270101

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV002889379

NM_025132.4(WDR19):c.1983-2A>C

SNV
Germline

Chr4:39231795

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV002876098

NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr4:39203645

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV002903042

NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)

SNV
Germline

Chr4:39244496

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV003013147

NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)

SNV
Germline

Chr3:121781821

Pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003330255

NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr1:243308110

Pathogenic/Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003778259 RCV004529261

NM_001023570.4(IQCB1):c.263+1G>T

SNV
Unknown

Chr3:121828469

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003461749

NM_001023570.4(IQCB1):c.100+1G>A

SNV
Unknown

Chr3:121828860

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003461750

NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)

SNV
Unknown

Chr3:121790178

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003469865

NM_001023570.4(IQCB1):c.488-2A>G

SNV
Unknown

Chr3:121807445

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003469866

NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)

SNV
Unknown

Chr3:121807354

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003461751

NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)

SNV
Unknown

Chr3:121790151

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003469868

NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)

SNV
Unknown

Chr3:121808922

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003461752

NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)

SNV
Unknown

Chr3:121828582

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003461754

NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr3:121807438

Pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003749071 RCV004573275

NM_025132.4(WDR19):c.716+1G>C

SNV
Germline

Chr4:39205267

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV003786262

NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)

SNV
Germline

Chr4:39224938

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV003789506

NM_025132.4(WDR19):c.2364-2A>G

SNV
Germline

Chr4:39240275

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV003799591

NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)

SNV
Germline

Chr4:39234789

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV003805473

NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)

SNV
Germline

Chr4:39234788

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV003805719

NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)

SNV
Germline

Chr4:39253187

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV003806265

NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)

SNV
Germline

Chr4:39253188

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV003797459

NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr1:243308035

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003812502

NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)

SNV
Germline

Chr3:121828861

Pathogenic/Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003811074 RCV004573339

NM_001023570.4(IQCB1):c.814C>T (p.Gln272Ter)

SNV
Unknown

Chr3:121797180

Pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004576754

NM_001023570.4(IQCB1):c.1342C>T (p.Gln448Ter)

SNV
Unknown

Chr3:121781811

Pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004576756

NM_001023570.4(IQCB1):c.1129+1G>A

SNV
Unknown

Chr3:121790072

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004576759

NM_001023570.4(IQCB1):c.986+1G>T

SNV
Unknown

Chr3:121795456

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004576761

NM_001023570.4(IQCB1):c.487+1G>A

SNV
Unknown

Chr3:121808915

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004576763

NM_001023570.4(IQCB1):c.1568-2A>G

SNV
Unknown

Chr3:121770576

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004576764