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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	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 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Retinitis pigmentosa Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 6 Leber congenital amaurosis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 COG7 congenital disorder of glycosylation Abnormality of the nervous system Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	31 SubmittersRCV000001396 RCV000086298 RCV000531295 RCV000114202 RCV001073790 RCV000787813 RCV000515339 RCV001261607 RCV001276487 RCV001000092 RCV001002714 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV004798711 RCV003147273
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Retinitis pigmentosa Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 1 Retinal dystrophy Intellectual disability Joubert syndrome 5 CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV000988884 RCV001075828 RCV001255341 RCV001196010 RCV001731267 RCV001831503 RCV003460403
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Retinal dystrophy Blindness Nystagmus Central hypotonia Molar tooth sign on MRI Senior-Loken syndrome 6 Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related ciliopathy Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	22 SubmittersRCV000001402 RCV000001403 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV000415219 RCV000415120 RCV001002715 RCV001831504 RCV001046610 RCV003492281 RCV003466778 RCV003155008 RCV004975257
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Polycystic kidney disease Severe hydrocephalus Encephalocele Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis 10 Condition: not provided Retinal dystrophy Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003887847 RCV002496228 RCV003466779 RCV004732519
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)	SNV Germline	Chr3:121781772	Pathogenic	Senior-Loken syndrome 5 Nephronophthisis Retinal dystrophy Condition: not provided Renal dysplasia and retinal aplasia IQCB1-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115214	rs_121918244	12 SubmittersRCV000001904 RCV000230781 RCV000505099 RCV000681897 RCV001003059 RCV003398416 RCV003362658
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_001128178.3(NPHP1):c.1716+1G>T	SNV Germline	Chr2:110129185	Pathogenic/Likely pathogenic	Nephronophthisis 1 Nephronophthisis Joubert syndrome with renal defect Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA348086755	rs_1233478832	4 SubmittersRCV000003682 RCV001851623 RCV003466796 RCV005016232
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	SNV Germline	Chr2:110163048	Pathogenic	Nephronophthisis 1 Condition: not provided Nephronophthisis NPHP1-related disorder Joubert syndrome with renal defect Inborn genetic diseases Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116310	rs_121907899	14 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004018547 RCV005025001 RCV004814818
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	SNV Germline	Chr4:39231943	Pathogenic	Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Connective tissue disorder Renal dysplasia and retinal aplasia WDR19-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA199262	rs_387906980	10 SubmittersRCV000023681 RCV000169775 RCV001356848 RCV000987440 RCV001047050 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	11 SubmittersRCV000023757 RCV001075299 RCV000800060
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	SNV Germline	Chr3:121790166	Pathogenic	Senior-Loken syndrome 5 Leber congenital amaurosis Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA129461	rs_387907009	6 SubmittersRCV000023758 RCV000504719 RCV000462160
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Condition: not provided Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641
NM_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 Retinal dystrophy NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA220570	rs_189320299	7 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380 RCV004815000 RCV004734635
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	SNV Germline	Chr1:5867883	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Condition: not provided Kidney disorder Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA223178	rs_139767853	14 SubmittersRCV000081715 RCV000292444 RCV000331197 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 Retinal dystrophy Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA148749	rs_35641267	9 SubmittersRCV000081719 RCV000476917 RCV001096418 RCV001098156 RCV001528249 RCV004529858 RCV004815010 RCV005394345
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	SNV Germline	Chr12:88086456	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000402012 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227967	rs_62640581	9 SubmittersRCV000086289 RCV001199210 RCV002498466 RCV001216498 RCV001831897 RCV003467011
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	SNV Germline	Chr12:88083888	Pathogenic	Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227973	rs_62640574	6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related ciliopathy Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	SNV Germline	Chr12:88079219	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Kidney disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA150915	rs_61941020	18 SubmittersRCV000114201 RCV000336982 RCV000352237 RCV000399104 RCV000436165 RCV000292636 RCV000407985 RCV001084256 RCV001826782 RCV002294031 RCV003888506
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)	SNV Germline	Chr4:39218103	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13	Criteria Provided Conflicting Classifications	CA151406	rs_587777349	4 SubmittersRCV000115011 RCV001753491 RCV001854543 RCV001281114
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)	SNV Germline	Chr4:39274945	Pathogenic/Likely pathogenic	Nephronophthisis 13 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided Cranioectodermal dysplasia 4 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA151410	rs_587777351	7 SubmittersRCV000115013 RCV001281118 RCV001854544 RCV000788500 RCV002477273
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	SNV Germline	Chr4:39273029	Pathogenic/Likely pathogenic	Senior-Loken syndrome 8 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4 Nephronophthisis 13 Leber congenital amaurosis WDR19-related disorder Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia Cranioectodermal dysplasia 4 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA151412	rs_79436363	11 SubmittersRCV000115014 RCV000433622 RCV000653250 RCV000850617 RCV003224150 RCV003224149 RCV001262101 RCV005250018 RCV005359057 RCV000754960 RCV005031600
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 Nephronophthisis 13 Connective tissue disorder Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA151414	rs_587777352	9 SubmittersRCV000115015 RCV000516054 RCV000681868 RCV001797626 RCV002277157 RCV001212609
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis Kidney disorder	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000262275 RCV000361419 RCV000297299 RCV000321698 RCV000475858 RCV000266641 RCV002505080 RCV001274128 RCV002294036
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000293222 RCV000337209 RCV000279934 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis Kidney disorder	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	8 SubmittersRCV000124248 RCV000319253 RCV000259368 RCV000354431 RCV000472139 RCV000267777 RCV000322977 RCV001812002 RCV001276489 RCV002294038
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel syndrome, type 4 Joubert syndrome 1 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000193732 RCV000132681 RCV001110731 RCV000988879 RCV001110732 RCV000490488 RCV001109949 RCV001109950 RCV001272010 RCV001083794 RCV003888568
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	7 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV005252766
NM_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 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA234901	rs_118064970	4 SubmittersRCV000153922 RCV001086622 RCV001099561 RCV001099560 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 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000373904 RCV000390170 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV001109956 RCV001110741 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Atypical hemolytic-uremic syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046 RCV004815226
NM_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 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	SNV Germline	Chr2:110178520	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Joubert syndrome with renal defect Condition: not provided Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA234415	rs_140446520	9 SubmittersRCV000153590 RCV000195676 RCV000372811 RCV000515315 RCV000338020 RCV001535425 RCV001094558 RCV004734720
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	5 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 Inborn genetic diseases WDR19-related disorder Connective tissue disorder	Criteria Provided Conflicting Classifications	CA235263	rs_187546086	11 SubmittersRCV000154140 RCV000278329 RCV000317115 RCV000723861 RCV001083264 RCV002516102 RCV004532742 RCV002277304
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000400108 RCV000291841 RCV000344957 RCV000399776 RCV000346891 RCV001085341 RCV003888583
NM_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 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	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 Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA235731	rs_369162678	5 SubmittersRCV000171146 RCV000308383 RCV000346948 RCV001093794 RCV002478540
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)	SNV Germline	Chr1:5874542	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 NPHP4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA235733	rs_373369949	5 SubmittersRCV000171147 RCV001058651 RCV002485085 RCV004535163 RCV004815267
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)	SNV Germline	Chr4:39253193	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Retinal dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72 Nephronophthisis 13	Criteria Provided Conflicting Classifications	CA236213	rs_751386429	5 SubmittersRCV000171376 RCV002515238 RCV004815270 RCV005031700 RCV003989482
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	SNV Germline	Chr2:110161690	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA239098	rs_371112962	4 SubmittersRCV000173662 RCV000353470 RCV000390136 RCV000305677 RCV001094562
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)	SNV Germline	Chr2:110161645	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Conflicting Classifications	CA239100	rs_794726975	3 SubmittersRCV000173663 RCV001852113 RCV002500458
NM_001023570.4(IQCB1):c.877-10G>A	SNV Germline	Chr3:121795576	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA239156	rs_371057369	4 SubmittersRCV000173719 RCV005025273 RCV001419219
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)	SNV Germline	Chr1:243344238	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 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 Senior-Loken syndrome 1 Joubert syndrome with renal defect Condition: not provided Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA240230	rs_151204566	8 SubmittersRCV000174670 RCV000230927 RCV001128803 RCV001128802 RCV001699052 RCV001128804
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 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV001084413 RCV001112002 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV000835406
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)	SNV Germline	Chr1:5890915	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA334827	rs_148424288	11 SubmittersRCV000175205 RCV000204681 RCV000392070 RCV001093856 RCV001573161 RCV002294061
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)	SNV Germline	Chr1:5890969	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA240913	rs_191913664	10 SubmittersRCV000724060 RCV000986226 RCV001100471 RCV001088494 RCV004537377 RCV005025279
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)	SNV Germline	Chr1:5874953	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA242083	rs_116606479	10 SubmittersRCV000261619 RCV001093746 RCV000367814 RCV000723970 RCV004537396
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	SNV Germline	Chr12:88102849	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis not specified Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Retinal dystrophy Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	11 SubmittersRCV000176690 RCV000660467 RCV001113515 RCV001082205 RCV000192651 RCV001111528 RCV001111529 RCV001275025 RCV004816280 RCV001113514 RCV004528939
NM_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 Senior-Loken syndrome 4 Nephronophthisis 4 Condition: not provided Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA243432	rs_201065230	11 SubmittersRCV000177288 RCV000764007 RCV000723456 RCV001097312 RCV001081496 RCV001097313 RCV004732745
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	SNV Germline	Chr12:88089407	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000400157 RCV000300808 RCV000335768 RCV000348352 RCV001699223 RCV000198308 RCV001826899 RCV000401126 RCV004528944
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Retinal dystrophy Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	11 SubmittersRCV001036300 RCV000523279 RCV001826904 RCV004816287 RCV002222427 RCV001376454 RCV003468864 RCV005003531
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000364677 RCV000328615 RCV000268862 RCV001082773 RCV001832019 RCV003352794 RCV004528947 RCV000265423 RCV000320490 RCV000712032
NM_001128178.3(NPHP1):c.330-4G>A	SNV Germline	Chr2:110170002	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA245909	rs_774162169	4 SubmittersRCV000178744 RCV003586162 RCV005025286 RCV004539674
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Condition: not provided not specified CEP290-related disorder Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV001085617 RCV001112634 RCV000179537 RCV003488430 RCV004539683 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	13 SubmittersRCV000724859 RCV000179538 RCV001275047 RCV001526756 RCV005008108 RCV001082749 RCV004537490 RCV005305978
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)	SNV Germline	Chr1:243308173	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA247688	rs_149359674	3 SubmittersRCV000180303 RCV001078537 RCV004537508
NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter)	SNV Germline	Chr3:121797177	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA203724	rs_794727964	3 SubmittersRCV000180543 RCV005089901 RCV005025289
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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA207867	rs_797045948	5 SubmittersRCV000194004 RCV001731515 RCV002517977 RCV004530147 RCV004767133
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)	SNV Germline	Chr1:243378748	Conflicting classifications of pathogenicity	not specified Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA207762	rs_150646039	4 SubmittersRCV000193940 RCV001558681 RCV000873932 RCV004541252
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	SNV Germline	Chr12:88086450	Likely pathogenic	Leber congenital amaurosis 10 Bardet-Biedl syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	No Assertion Criteria Provided	CA347348	rs_797044604	1 SubmittersRCV000192446
NM_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 Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 not specified Inborn genetic diseases Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1	Criteria Provided Conflicting Classifications	CA336743	rs_780427871	6 SubmittersRCV000196832 RCV000730183 RCV001128695 RCV001128696 RCV001135698 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.5932C>T (p.Arg1978Ter)	SNV Germline	Chr12:88071373	Pathogenic	Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis 10 Retinal dystrophy Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277735	rs_371525247	8 SubmittersRCV000201627 RCV000598256 RCV003468924 RCV001382359 RCV004798806 RCV004816348 RCV005003554
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	9 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005623073 RCV005361163
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Cystic renal dysplasia Occipital encephalocele Blindness Global developmental delay Condition: not provided Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis Inborn genetic diseases Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	12 SubmittersRCV000201672 RCV000626966 RCV000414892 RCV000493605 RCV000763311 RCV001271568 RCV002519581 RCV000806654 RCV004732783 RCV003462354 RCV004816347
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	14 SubmittersRCV000201597 RCV000521437 RCV001828040 RCV001036850 RCV003155122 RCV002250594 RCV003468926 RCV002485329 RCV004816349
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Occipital encephalocele Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Condition: not provided Leber congenital amaurosis 10 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	16 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001030764 RCV001002937 RCV000816913 RCV001529566 RCV001589085 RCV004732782 RCV003468919
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)	SNV Germline	Chr12:88111226	Conflicting classifications of pathogenicity	Joubert syndrome 5 Retinal dystrophy Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277728	rs_748034744	5 SubmittersRCV000201605 RCV001074504 RCV001471584 RCV005003555 RCV004975329
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279529	rs_863225186	5 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)	SNV Germline	Chr3:121772683	Conflicting classifications of pathogenicity	Nephronophthisis Condition: not provided IQCB1-related disorder Retinitis pigmentosa Senior-Loken syndrome 5	Criteria Provided Conflicting Classifications	CA348358	rs_140630401	8 SubmittersRCV001082244 RCV000519668 RCV003917846 RCV000787845 RCV001147493
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829
NM_025114.4(CEP290):c.297+1G>T	SNV Germline	Chr12:88139144	Pathogenic/Likely pathogenic	Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA10581686	rs_878853360	7 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003469116 RCV003155133 RCV005003571
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)	SNV Germline	Chr1:5890953	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 Atypical hemolytic-uremic syndrome Bardet-Biedl syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA554238	rs_34248917	8 SubmittersRCV000248287 RCV000364078 RCV000233672 RCV001093858 RCV002294087 RCV003224236 RCV004713425
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys)	SNV Germline	Chr1:5927714	Conflicting classifications of pathogenicity	Nephronophthisis Condition: not provided Nephronophthisis 4 Senior-Loken syndrome 4 Inborn genetic diseases NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554537	rs_371819898	5 SubmittersRCV000233283 RCV000728565 RCV002487080 RCV002516328 RCV004529410
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)	SNV Germline	Chr12:88055666	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109948 RCV001109944 RCV001109946 RCV004725118
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711827	rs_371582975	4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	SNV Germline	Chr12:88107031	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712316	rs_764963626	8 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413
NM_025132.4(WDR19):c.3918-6A>C	SNV Germline	Chr4:39278533	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892539	rs_199546190	3 SubmittersRCV000239256 RCV000877878 RCV001144715 RCV001150826
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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications	CA1483504	rs_6672843	3 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 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA2891795	rs_199765304	4 SubmittersRCV000246087 RCV000338763 RCV000302521 RCV000952547 RCV001753728
NM_025132.4(WDR19):c.1629A>G (p.Pro543=)	SNV Germline	Chr4:39225033	Conflicting classifications of pathogenicity	not specified Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891894	rs_776659376	3 SubmittersRCV000249693 RCV005243176 RCV005213243
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	SNV Germline	Chr12:88077777	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Condition: not provided Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	11 SubmittersRCV000246283 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV000297940 RCV000338834 RCV000342377 RCV001828148
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	SNV Germline	Chr12:88083853	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6711863	rs_201614215	8 SubmittersRCV000243671 RCV000270848 RCV000383188 RCV000860688 RCV000283968 RCV000328558 RCV000338967 RCV001833282 RCV001546981
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)	SNV Germline	Chr12:88118525	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6712494	rs_561018129	5 SubmittersRCV000249364 RCV001241555 RCV001195819 RCV005008220 RCV005318354
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	SNV Germline	Chr12:88118708	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712524	rs_147371999	8 SubmittersRCV000254461 RCV001086907 RCV001109701 RCV001109703 RCV001572697 RCV001113718 RCV001113719 RCV001109702
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Condition: not provided Leber congenital amaurosis 10 Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001311004 RCV001113799 RCV001275038 RCV001109774 RCV001113800 RCV001113801 RCV001113802
NM_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 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Multiple Submitters No Conflicts	CA10602914	rs_886041912	4 SubmittersRCV000320568 RCV001234299 RCV005235249 RCV002494812
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr12:88114536	Pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV002500965 RCV001833301 RCV003463734
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)	SNV Germline	Chr1:5947199	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 not specified Condition: not provided Senior-Loken syndrome 4 Kidney disorder	Criteria Provided Conflicting Classifications	CA554665	rs_190940697	5 SubmittersRCV000543369 RCV001100780 RCV000357469 RCV003409400 RCV001100781 RCV002294211
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	SNV Germline	Chr12:88125343	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 4 CEP290-related disorder Inborn genetic diseases Leber congenital amaurosis not specified Condition: not provided Kidney disorder Stuve-Wiedemann syndrome 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA6712623	rs_201988582	14 SubmittersRCV000280320 RCV000342452 RCV000396707 RCV000320212 RCV000637003 RCV000374721 RCV000714822 RCV001265795 RCV001275039 RCV000354111 RCV001580478 RCV002294212 RCV003319345 RCV001589313
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002479997 RCV001380938 RCV003447521 RCV003469220 RCV002222465 RCV004816477
NM_025114.4(CEP290):c.181-2A>G	SNV Germline	Chr12:88139566	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA10604124	rs_886042359	4 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	SNV Germline	Chr12:88084814	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702 RCV001113144
NM_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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483357	rs_143407309	6 SubmittersRCV000404550 RCV001101445 RCV001087041 RCV001101444 RCV004535320
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)	SNV Germline	Chr1:5909210	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 Inborn genetic diseases not specified Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA554499	rs_372565083	7 SubmittersRCV000277373 RCV000332355 RCV000343427 RCV001093815 RCV002519168 RCV003151009 RCV002487222
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	Condition: not provided CEP290-related disorder Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	9 SubmittersRCV000498064 RCV000779117 RCV000473837 RCV000763313 RCV001271571
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)	SNV Germline	Chr4:39245394	Conflicting classifications of pathogenicity	not specified Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Inborn genetic diseases WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892155	rs_200266424	5 SubmittersRCV000391331 RCV000756917 RCV001089411 RCV002519250 RCV004734931
NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser)	SNV Germline	Chr4:39240278	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Inborn genetic diseases WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892066	rs_199904529	5 SubmittersRCV000274698 RCV001088018 RCV002519251 RCV004734932
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 Condition: not provided Senior-Loken syndrome 4 NPHP4-related disorder Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554339	rs_372430727	7 SubmittersRCV000308350 RCV000400262 RCV000363050 RCV004543090 RCV001093812
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 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 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 Retinal dystrophy NPHP4-related disorder Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554739	rs_201124357	7 SubmittersRCV000296994 RCV000324865 RCV000377050 RCV001093864 RCV004816508 RCV004535409 RCV005396895
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)	SNV Germline	Chr2:110163104	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis Retinal dystrophy NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827217	rs_114250691	6 SubmittersRCV000363080 RCV000765499 RCV001084490 RCV004816513 RCV004535410
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)	SNV Germline	Chr2:110124038	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Inborn genetic diseases NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1826867	rs_201460699	6 SubmittersRCV000303839 RCV001067121 RCV005415563 RCV004021253 RCV004734940
NM_015102.5(NPHP4):c.3168C>T (p.His1056=)	SNV Germline	Chr1:5874534	Conflicting classifications of pathogenicity	not specified Condition: not provided Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA553773	rs_376351293	7 SubmittersRCV000307652 RCV001726088 RCV001100140 RCV000638102 RCV001098357
NM_015102.5(NPHP4):c.1048G>A (p.Gly350Ser)	SNV Germline	Chr1:5947175	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA554655	rs_377155892	4 SubmittersRCV000362398 RCV000793846 RCV005025435 RCV004955386
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)	SNV Germline	Chr1:5890913	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554221	rs_199628481	4 SubmittersRCV000296052 RCV000298397 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 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711459	rs_201218801	11 SubmittersRCV002467720 RCV005355616 RCV001331377 RCV000454208 RCV001833396 RCV000497486 RCV000801486 RCV002522012 RCV003463776 RCV004537606
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)	SNV Germline	Chr12:88059985	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711473	rs_772603458	7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997
NM_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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA553978	rs_112206586	6 SubmittersRCV000284900 RCV000765251 RCV001086833 RCV004537620 RCV004955395
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 SDCCAG8-related disorder Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA1483252	rs_140413256	5 SubmittersRCV000276217 RCV000872197 RCV000389243 RCV004537662 RCV005425924 RCV003224254
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)	SNV Germline	Chr1:243270994	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483244	rs_146474568	5 SubmittersRCV000310366 RCV000365007 RCV000532918 RCV005425923 RCV004537661
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)	SNV Germline	Chr1:243293116	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483350	rs_150070966	5 SubmittersRCV000342454 RCV000399034 RCV000763845 RCV000522463 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 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA10610219	rs_562484051	3 SubmittersRCV000313161 RCV000365411 RCV001363261 RCV004732835
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=)	SNV Germline	Chr1:5865156	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 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 Condition: not provided Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553479	rs_560944258	5 SubmittersRCV000290652 RCV000729809 RCV000382692 RCV002059490 RCV004543176
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)	SNV Germline	Chr1:5865213	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Condition: not provided NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553494	rs_199925943	4 SubmittersRCV000312869 RCV000352075 RCV001093796 RCV000595182 RCV004543177
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 not specified Joubert syndrome with renal defect Nephronophthisis Condition: not provided Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827002	rs_149887461	7 SubmittersRCV000261599 RCV000591051 RCV000319080 RCV000385395 RCV001549752 RCV001094595 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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	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 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483400	rs_377256554	3 SubmittersRCV000288842 RCV000343855 RCV001493922 RCV004734953
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 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications	CA1483636	rs_759125934	2 SubmittersRCV000321346 RCV000380673 RCV003765736
NM_001128178.3(NPHP1):c.771+89A>G	SNV Germline	Chr2:110164599	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Nephronophthisis Senior-Loken syndrome 1 Condition: not provided Nephronophthisis 1 Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Inborn genetic diseases NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827267	rs_139787582	8 SubmittersRCV000290000 RCV000325159 RCV000381986 RCV000732923 RCV001094596 RCV002487460 RCV004649130 RCV004735468
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)	SNV Germline	Chr2:110169872	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827390	rs_143163969	2 SubmittersRCV000267804 RCV000378671 RCV000315824 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	Senior-Loken syndrome 4 Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA554220	rs_373962831	3 SubmittersRCV000338114 RCV000592408 RCV001379795
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 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1827219	rs_141763330	5 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593 RCV004816571
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)	SNV Germline	Chr2:110165111	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Conflicting Classifications	CA10611873	rs_886054755	2 SubmittersRCV000300890 RCV000335771 RCV000399200 RCV005090514
NM_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	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 WDR19-related disorder Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2891791	rs_777985189	3 SubmittersRCV000393193 RCV000342172 RCV004530410 RCV003766008
NM_025132.4(WDR19):c.1357-7G>A	SNV Germline	Chr4:39217976	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 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 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	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 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	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 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Spermatogenic failure 72 Nephronophthisis 13 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2891800	rs_772867899	4 SubmittersRCV000298705 RCV000400723 RCV002480216 RCV001850849 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 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	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 Connective tissue disorder Condition: not provided not specified Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892303	rs_371128500	6 SubmittersRCV000289800 RCV000347138 RCV002278579 RCV001726139 RCV001699383 RCV001519086
NM_025132.4(WDR19):c.6+5A>G	SNV Germline	Chr4:39182568	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891496	rs_201198839	2 SubmittersRCV000292560 RCV002057925 RCV000386870
NM_025132.4(WDR19):c.1249+9A>G	SNV Germline	Chr4:39216219	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Cranioectodermal dysplasia Connective tissue disorder Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891801	rs_201377206	3 SubmittersRCV000353502 RCV000401556 RCV002278577 RCV000878418
NM_025132.4(WDR19):c.1932G>A (p.Thr644=)	SNV Germline	Chr4:39228640	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA10620972	rs_886059398	2 SubmittersRCV000335670 RCV002523470 RCV000397851
NM_025132.4(WDR19):c.1134+13T>G	SNV Germline	Chr4:39216026	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	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 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	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	Asphyxiating thoracic dystrophy 5 Retinal dystrophy Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892327	rs_769329045	3 SubmittersRCV000390270 RCV001074268 RCV000341521 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 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892440	rs_201597047	6 SubmittersRCV000288576 RCV000385239 RCV000488404 RCV001083150 RCV004530412 RCV005398477
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	SNV Germline	Chr12:88087887	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Kidney disorder Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712028	rs_181121175	8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001273074 RCV001085312 RCV002294263 RCV003888722 RCV004537751
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	SNV Germline	Chr12:88118717	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712526	rs_752942122	3 SubmittersRCV000305920 RCV000299546 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199
NM_025114.4(CEP290):c.-41C>T	SNV Germline	Chr12:88141913	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 not specified Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA10633653	rs_759820573	3 SubmittersRCV000281237 RCV000330322 RCV000372028 RCV000338378 RCV000422198 RCV000387258 RCV004537755
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	SNV Germline	Chr12:88049259	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711281	rs_765709669	3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747
NM_025114.4(CEP290):c.7209+7T>G	SNV Germline	Chr12:88050347	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711328	rs_745813087	3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 RCV001409432
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	SNV Germline	Chr12:88071872	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711648	rs_746949236	4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)	SNV Germline	Chr12:88087910	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10638682	rs_548558619	7 SubmittersRCV000303931 RCV000339034 RCV000361178 RCV000391345 RCV000398556 RCV001590929 RCV001242966 RCV001835779 RCV002487370 RCV004544542 RCV005540054
NM_025114.4(CEP290):c.3574-15T>A	SNV Germline	Chr12:88089502	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712114	rs_565414938	2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr12:88111737	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided Microcephaly Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712389	rs_375038986	9 SubmittersRCV000307295 RCV000310425 RCV000371328 RCV000365084 RCV000400672 RCV000861492 RCV001562789 RCV001252733 RCV002467728 RCV003888723 RCV004732842 RCV005003631
NM_025114.4(CEP290):c.54G>A (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA10638700	rs_886049885	2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	SNV Germline	Chr12:88050377	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711331	rs_189556433	7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721
NM_025114.4(CEP290):c.5709+12A>G	SNV Germline	Chr12:88077210	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711673	rs_371010287	2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	SNV Germline	Chr12:88087823	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712022	rs_143152287	5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001347081 RCV001273072 RCV004732840
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	SNV Germline	Chr12:88089271	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided Retinitis pigmentosa Retinal dystrophy Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712084	rs_139998038	11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001273076 RCV001555535 RCV001590930 RCV001074452 RCV002520840 RCV004544543
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	SNV Germline	Chr12:88106876	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712296	rs_776360559	4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	SNV Germline	Chr12:88115099	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712437	rs_199747962	5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002461069 RCV002467729
NM_025114.4(CEP290):c.-33G>T	SNV Germline	Chr12:88141905	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA10642542	rs_139415563	2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV001642965 RCV000402356
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)	SNV Germline	Chr12:88086400	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711985	rs_377614744	3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749
NM_025114.4(CEP290):c.1623+10G>T	SNV Germline	Chr12:88118633	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712516	rs_377529198	2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	SNV Germline	Chr12:88130558	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinitis pigmentosa Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis not specified CEP290-related disorder Retinal dystrophy CEP290-related ciliopathy	Criteria Provided Conflicting Classifications	CA6712768	rs_200063017	8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000787814 RCV000637006 RCV001275046 RCV003330639 RCV004537752 RCV003888725 RCV005355635
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	SNV Germline	Chr12:88131209	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712782	rs_757641323	9 SubmittersRCV000414162 RCV000552078 RCV002470852 RCV005010313 RCV000999862 RCV005540072 RCV003463818
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)	SNV Germline	Chr12:88102888	Pathogenic/Likely pathogenic	Central hypotonia Nystagmus Molar tooth sign on MRI Blindness Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA16043473	rs_1057518822	4 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	SNV Germline	Chr12:88130414	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Intellectual disability CEP290-related disorder Retinal dystrophy Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712745	rs_202159966	9 SubmittersRCV000428640 RCV001109866 RCV001109867 RCV001109868 RCV001110658 RCV001275045 RCV000809280 RCV001109869 RCV001252443 RCV004530521 RCV004816652 RCV005010318
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	SNV Germline	Chr12:88059914	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711461	rs_371833544	6 SubmittersRCV001245037 RCV000765111 RCV000417476 RCV001276484 RCV003889881
NM_025114.4(CEP290):c.1360-4T>G	SNV Germline	Chr12:88120280	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712563	rs_200328638	4 SubmittersRCV001112007 RCV001112009 RCV001112452 RCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV002510886
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	SNV Germline	Chr12:88117128	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 10 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712482	rs_201295052	8 SubmittersRCV000733432 RCV001111899 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)	SNV Germline	Chr4:39244515	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 not specified Asphyxiating thoracic dystrophy 5 WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892126	rs_201963605	6 SubmittersRCV000486591 RCV001078579 RCV001146438 RCV001821402 RCV001146437 RCV004535530
NM_025114.4(CEP290):c.4813-2A>G	SNV Germline	Chr12:88083232	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6711850	rs_369523378	12 SubmittersRCV000687629 RCV001075395 RCV000498458 RCV001535842 RCV002248731 RCV003464071 RCV001271569 RCV002222534
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)	SNV Germline	Chr1:243308026	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 not specified Senior-Loken syndrome 7 SDCCAG8-related disorder Bardet-Biedl syndrome 16 Condition: not provided Kidney disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1483446	rs_201869920	9 SubmittersRCV000704873 RCV000504492 RCV001095982 RCV004535620 RCV001095981 RCV001700134 RCV002294338 RCV004817723
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)	SNV Germline	Chr4:39255854	Conflicting classifications of pathogenicity	not specified Condition: not provided Connective tissue disorder Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 WDR19-related disorder Spermatogenic failure 72 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13	Criteria Provided Conflicting Classifications	CA2892240	rs_201354264	8 SubmittersRCV000500098 RCV001532019 RCV002279282 RCV000951959 RCV001149215 RCV001149216 RCV004541573 RCV005398722
NM_025114.4(CEP290):c.1066-1G>A	SNV Germline	Chr12:88125370	Pathogenic	not specified Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA241154824	rs_965522059	6 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)	SNV Germline	Chr4:39268041	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Spermatogenic failure 72 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2892335	rs_567310076	4 SubmittersRCV002481645 RCV001227801 RCV001811019 RCV004965520
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)	SNV Germline	Chr4:39205663	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Spermatogenic failure 72	Criteria Provided Conflicting Classifications	CA2891712	rs_375644378	4 SubmittersRCV000515807 RCV001204687 RCV002476032
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)	SNV Germline	Chr4:39205726	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Spermatogenic failure 72	Criteria Provided Multiple Submitters No Conflicts	CA2891724	rs_377160857	4 SubmittersRCV000516052 RCV001851417 RCV005034058
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)	SNV Germline	Chr4:39224887	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 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter	CA356647016	rs_1553918403	3 SubmittersRCV000515847 RCV001851418
NM_025132.4(WDR19):c.3716+1G>A	SNV Germline	Chr4:39274959	Likely pathogenic	Jeune thoracic dystrophy Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Spermatogenic failure 72 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA356651027	rs_1191056931	3 SubmittersRCV000515837 RCV005034059
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 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2567069	rs_779858591	6 SubmittersRCV000521100 RCV001331479 RCV001851495 RCV003935382 RCV004817754
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	SNV Germline	Chr12:88114557	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977034	rs_1555220625	6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)	SNV Germline	Chr1:243489095	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483825	rs_191821211	2 SubmittersRCV000554480 RCV001099654 RCV001097855
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)	SNV Germline	Chr4:39232258	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892033	rs_144335584	3 SubmittersRCV000542232 RCV001150601 RCV001150602 RCV005398865
NM_025114.4(CEP290):c.6358-1G>A	SNV Germline	Chr12:88060995	Likely pathogenic	Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711506	rs_766670248	4 SubmittersRCV001276485 RCV000555880 RCV002491001 RCV003470742
NM_025114.4(CEP290):c.384T>C (p.Asp128=)	SNV Germline	Chr12:88136700	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712816	rs_76267039	4 SubmittersRCV000550067 RCV001110659 RCV001110660 RCV001112627 RCV001112629 RCV001112628 RCV001821528 RCV003889921
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)	SNV Germline	Chr12:88060960	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711500	rs_184323010	5 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187 RCV004732937
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)	SNV Germline	Chr12:88121157	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712602	rs_773578133	4 SubmittersRCV000526103 RCV000839270 RCV005010500 RCV004537946
NM_025114.4(CEP290):c.180+1G>A	SNV Germline	Chr12:88140955	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712897	rs_758593134	7 SubmittersRCV001091342 RCV001199655 RCV000787558 RCV000542843 RCV002289749 RCV002497107
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter)	SNV Germline	Chr1:243415802	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA345667298	rs_1286714661	4 SubmittersRCV000579189 RCV002530371 RCV004735634 RCV004767416
NM_025114.4(CEP290):c.5012+2T>C	SNV Germline	Chr12:88083029	Likely pathogenic	Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385992634	rs_1369768287	6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)	SNV Germline	Chr12:88058868	Pathogenic	Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related disorder Leber congenital amaurosis 10 Kidney disorder Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711432	rs_760540562	7 SubmittersRCV000596012 RCV000636987 RCV002282253 RCV002250666 RCV002294351 RCV002506412 RCV003459464
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)	SNV Germline	Chr1:5904749	Pathogenic	Condition: not provided Nephronophthisis NPHP4-related disorder Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Multiple Submitters No Conflicts	CA17124406	rs_1025515771	4 SubmittersRCV000594142 RCV001381479 RCV004530676 RCV002497256
NM_001128178.3(NPHP1):c.772-5T>C	SNV Germline	Chr2:110163140	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827225	rs_201478764	3 SubmittersRCV000592386 RCV001134446 RCV001134448 RCV001134447 RCV003748247
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)	SNV Germline	Chr1:5904731	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554298	rs_547495754	6 SubmittersRCV001002694 RCV000596610 RCV002286526 RCV001416064 RCV004732955
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)	SNV Germline	Chr1:5867795	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553621	rs_371527260	4 SubmittersRCV000594476 RCV001305765 RCV002497261 RCV004732957
NM_015102.5(NPHP4):c.280-5T>G	SNV Germline	Chr1:5969264	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA17126050	rs_908276068	3 SubmittersRCV000592053 RCV001045846 RCV002491199
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)	SNV Germline	Chr1:5904739	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554299	rs_375416303	4 SubmittersRCV000595006 RCV001097015 RCV001097016 RCV000862361 RCV004543360
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)	SNV Germline	Chr1:5873275	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Condition: not provided Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA553715	rs_41280798	4 SubmittersRCV000638099 RCV000765245 RCV000597836 RCV001096629
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)	SNV Germline	Chr1:5867848	Conflicting classifications of pathogenicity	NPHP4-related disorder Nephronophthisis 4 Condition: not provided Nephronophthisis Retinal dystrophy Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA553638	rs_375836844	7 SubmittersRCV000778988 RCV001335698 RCV000595557 RCV001055295 RCV001074439 RCV002476329
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)	SNV Germline	Chr2:110144503	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP1-related disorder Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications	CA1827026	rs_147945403	4 SubmittersRCV000594034 RCV000638098 RCV004543376 RCV005019023
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)	SNV Germline	Chr1:5874527	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553770	rs_202004152	13 SubmittersRCV000765247 RCV000592906 RCV001098354 RCV001098353 RCV001054486 RCV004732966
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 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA554706	rs_527701970	4 SubmittersRCV000593557 RCV001100782 RCV001100783 RCV001509677 RCV004817806
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)	SNV Germline	Chr3:121781790	Pathogenic	Renal dysplasia and retinal aplasia Nephronophthisis Senior-Loken syndrome 5 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA82725920	rs_866982675	5 SubmittersRCV000615076 RCV002529304 RCV004568321 RCV004817814
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter)	SNV Germline	Chr2:110123968	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA348086183	rs_1473345628	3 SubmittersRCV000627303 RCV003117437 RCV005019040
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)	SNV Germline	Chr12:88120207	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385980064	rs_1170451277	5 SubmittersRCV000627200 RCV000779118 RCV000763316 RCV000814304 RCV003465363
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)	SNV Germline	Chr12:88125357	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Condition: not provided CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712624	rs_776645403	8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV004732982 RCV003459522
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)	SNV Germline	Chr4:39225027	Pathogenic	Cranioectodermal dysplasia Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA2891893	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	CA354117313	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 Retinal dystrophy NPHP4-related disorder Nephronophthisis 4 Senior-Loken syndrome 4 Senior-Loken syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA554942	rs_370210428	7 SubmittersRCV000681812 RCV001237139 RCV004817922 RCV004733000 RCV005027837 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 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA356630223	rs_1237494778	5 SubmittersRCV000681867 RCV001074270 RCV001212612 RCV003319401 RCV005027838
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	CA1483333	rs_756907665	3 SubmittersRCV000685971 RCV004535707
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	SNV Germline	Chr2:110161686	Pathogenic	Nephronophthisis Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA1827180	rs_765263671	4 SubmittersRCV000702943 RCV001200637 RCV003472242 RCV002507229
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	CA354109989	rs_1280238814	5 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 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA2891975	rs_780847651	2 SubmittersRCV000688346 RCV005034296
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)	SNV Germline	Chr12:88130553	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy Leber congenital amaurosis Inborn genetic diseases Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6712767	rs_772170760	7 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002536346 RCV003465619 RCV002499260 RCV005620388
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)	SNV Germline	Chr12:88109070	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Joubert syndrome 5 Inborn genetic diseases Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712327	rs_201569048	8 SubmittersRCV001115045 RCV001829910 RCV000689950 RCV001115041 RCV001115043 RCV004026344 RCV002477547 RCV005407885 RCV001115042 RCV001115044 RCV001756171 RCV004527741
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)	SNV Germline	Chr12:88111318	Pathogenic	Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6712362	rs_753884599	6 SubmittersRCV000710064 RCV001868322 RCV003465647 RCV002493254 RCV004817947 RCV003141716
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)	SNV Germline	Chr1:243270236	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Condition: not provided	Criteria Provided Single Submitter	CA345474419	rs_756518004	2 SubmittersRCV001868922 RCV000723068
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr)	SNV Germline	Chr1:5933211	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Inborn genetic diseases Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA554592	rs_373614448	4 SubmittersRCV000728100 RCV001366737 RCV002535057 RCV002485854
NM_015102.5(NPHP4):c.2485+9C>A	SNV Germline	Chr1:5887277	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA554108	rs_200952409	4 SubmittersRCV000729591 RCV001102316 RCV001087806 RCV001102315 RCV004817956
NM_015102.5(NPHP4):c.870C>T (p.Gly290=)	SNV Germline	Chr1:5948192	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554714	rs_749844096	3 SubmittersRCV000729600 RCV001359189 RCV002499350
NM_015102.5(NPHP4):c.2611+1G>A	SNV Germline	Chr1:5880113	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Multiple Submitters No Conflicts	CA554052	rs_374141736	4 SubmittersRCV000730589 RCV001379686 RCV005027909
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	CA553771	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 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA348093020	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 Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA553870	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	CA338060126	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	CA338058446	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	CA554789	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 Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA427918973	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	CA2891764	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 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892119	rs_753596825	3 SubmittersRCV000756914 RCV001146435 RCV001483312 RCV001146436
NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu)	SNV Germline	Chr4:39274949	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA2892447	rs_141039852	2 SubmittersRCV001079233 RCV001811471
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)	SNV Germline	Chr4:39205191	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Multiple Submitters No Conflicts	CA2891673	rs_751290509	9 SubmittersRCV001074152 RCV001701316 RCV001387309 RCV002225117 RCV005036110
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter)	SNV Germline	Chr4:39255958	Pathogenic	Senior-Loken syndrome 8 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Multiple Submitters No Conflicts	CA2892256	rs_748174246	2 SubmittersRCV001281117 RCV001856174
NM_006642.5(SDCCAG8):c.220+2T>C	SNV Germline	Chr1:243270259	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1483222	rs_757796329	2 SubmittersRCV001378522 RCV005480480
NM_006642.5(SDCCAG8):c.675+1G>A	SNV Germline	Chr1:243293220	Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter	CA40424077	rs_1022080658	1 SubmittersRCV002535630
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)	SNV Germline	Chr1:243330591	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA345482584	rs_770084716	4 SubmittersRCV000785890 RCV005029443 RCV004535915
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)	SNV Germline	Chr12:88071860	Pathogenic/Likely pathogenic	Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA6711646	rs_561598805	6 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316 RCV005004418
NM_025114.4(CEP290):c.5587-1G>C	SNV Germline	Chr12:88077345	Pathogenic/Likely pathogenic	Leber congenital amaurosis Retinal dystrophy Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241153138	rs_968692633	10 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)	SNV Germline	Chr1:5867887	Pathogenic/Likely pathogenic	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Multiple Submitters No Conflicts	CA553657	rs_758275952	3 SubmittersRCV000792272 RCV001730711 RCV002487641
NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys)	SNV Germline	Chr3:121807371	Conflicting classifications of pathogenicity	Nephronophthisis Inborn genetic diseases Senior-Loken syndrome 5	Criteria Provided Conflicting Classifications	CA2567374	rs_146796158	3 SubmittersRCV000797327 RCV004027591 RCV005029462
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)	SNV Germline	Chr12:88071859	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Retinitis pigmentosa Joubert syndrome 1 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA241150716	rs_778030031	6 SubmittersRCV000815985 RCV002495153 RCV003324535 RCV000988881 RCV003467476 RCV004733054
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)	SNV Germline	Chr12:88087934	Pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385999345	rs_1339975972	3 SubmittersRCV000820623 RCV003467498 RCV005004450
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)	SNV Germline	Chr12:88118549	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA6712499	rs_760415289	9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV003467439 RCV002487758 RCV004733051 RCV004818045
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)	SNV Germline	Chr12:88136762	Pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Night blindness Leber congenital amaurosis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA385987715	rs_1290241933	8 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052 RCV005004443
NM_006642.5(SDCCAG8):c.307-1G>A	SNV Germline	Chr1:243274542	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter	CA345476808	rs_1460888769	1 SubmittersRCV000804204
NM_025114.4(CEP290):c.3104-5T>G	SNV Germline	Chr12:88093980	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA693075676	rs_1302558061	2 SubmittersRCV000824247 RCV005004455
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)	SNV Germline	Chr12:88089085	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712051	rs_377156725	4 SubmittersRCV000827318 RCV002538257 RCV004733059 RCV005004458
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)	SNV Germline	Chr12:88083854	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Bardet-Biedl syndrome 14 Retinal dystrophy Inborn genetic diseases CEP290-related disorder Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6711864	rs_369451049	8 SubmittersRCV001000093 RCV001244303 RCV001830860 RCV003448352 RCV003889992 RCV004029250 RCV004538167 RCV005012383
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)	SNV Germline	Chr1:5873300	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA553723	rs_187149431	4 SubmittersRCV000864108 RCV001096630 RCV001096631 RCV004818069 RCV005243376
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=)	SNV Germline	Chr1:5877129	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553938	rs_199875603	3 SubmittersRCV000861363 RCV001102217 RCV001102216 RCV004540153
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)	SNV Germline	Chr1:5986283	Conflicting classifications of pathogenicity	Nephronophthisis Retinal dystrophy Nephronophthisis 4 Senior-Loken syndrome 4 NPHP4-related disorder Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554967	rs_145078518	6 SubmittersRCV000861300 RCV001075647 RCV001099064 RCV001099065 RCV004538177 RCV005029522
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	CA2567303	rs_199959360	6 SubmittersRCV000861997 RCV001144731 RCV001701452 RCV003908168
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)	SNV Germline	Chr12:88080244	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA6711785	rs_375817905	6 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193 RCV005012385
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)	SNV Germline	Chr12:88111821	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis Leber congenital amaurosis 10 Condition: not provided CEP290-related disorder CEP290-related ciliopathy	Criteria Provided Conflicting Classifications	CA6712401	rs_200454865	8 SubmittersRCV000860704 RCV001111804 RCV001111805 RCV001111806 RCV001111807 RCV001275033 RCV001112276 RCV001546810 RCV004538174 RCV005359613
NM_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 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553794	rs_151151838	5 SubmittersRCV000866116 RCV001100144 RCV001100143 RCV001700474 RCV001726351 RCV004733071
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)	SNV Germline	Chr12:88077862	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711720	rs_370464321	4 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057 RCV005306188
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)	SNV Germline	Chr12:88080281	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 CEP290-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6711789	rs_757738553	5 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110313 RCV001110312 RCV001110314 RCV005012389 RCV004538287 RCV004797884
NM_025114.4(CEP290):c.3498T>G (p.Val1166=)	SNV Germline	Chr12:88090803	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA6712129	rs_750099379	3 SubmittersRCV000865008 RCV004733070 RCV005012386
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)	SNV Germline	Chr12:88102956	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related disorder Genetic developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA6712248	rs_546463648	5 SubmittersRCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV001113520 RCV004540210 RCV005626246
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)	SNV Germline	Chr12:88106854	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Kidney disorder Leber congenital amaurosis Retinal dystrophy CEP290-related disorder CEP290-related ciliopathy	Criteria Provided Conflicting Classifications	CA6712294	rs_147362398	7 SubmittersRCV000864755 RCV001111620 RCV001111621 RCV001111622 RCV001111624 RCV001111623 RCV002294390 RCV001275029 RCV003889993 RCV004538226 RCV005359621
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)	SNV Germline	Chr1:243307992	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications	CA1483443	rs_138449445	2 SubmittersRCV000873954 RCV001095979 RCV001095980
NM_025114.4(CEP290):c.1057C>T (p.Leu353=)	SNV Germline	Chr12:88126324	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA241155305	rs_1036812157	2 SubmittersRCV000872788 RCV005012390
NM_006642.5(SDCCAG8):c.1474-6C>T	SNV Germline	Chr1:243378715	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications	CA1483660	rs_376414138	5 SubmittersRCV000873379 RCV001701459 RCV001099562 RCV001101536
NM_025132.4(WDR19):c.1566C>T (p.Pro522=)	SNV Germline	Chr4:39224970	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 not specified	Criteria Provided Conflicting Classifications	CA2891882	rs_200692490	3 SubmittersRCV000951175 RCV001144396 RCV001150486 RCV005436399
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	CA2892163	rs_76326086	6 SubmittersRCV000949194 RCV002279655 RCV003106084 RCV004543559
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys)	SNV Germline	Chr4:39217992	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 WDR19-related disorder Spermatogenic failure 72 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA2891835	rs_539621646	3 SubmittersRCV001460840 RCV004735860 RCV005036248
NM_025114.4(CEP290):c.6358-5C>T	SNV Germline	Chr12:88060999	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711508	rs_372986399	4 SubmittersRCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001114082 RCV000915534 RCV001272014 RCV004533513
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)	SNV Germline	Chr4:39228355	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA2891921	rs_190192706	2 SubmittersRCV000981651 RCV001146290 RCV001146291
NM_025132.4(WDR19):c.1250-1G>A	SNV Germline	Chr4:39217133	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 5 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA356630606	rs_1327583103	2 SubmittersRCV000987439 RCV005036256
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)	SNV Germline	Chr12:88139522	Conflicting classifications of pathogenicity	Joubert syndrome 1 Retinal dystrophy Meckel-Gruber syndrome Joubert syndrome Nephronophthisis not specified Retinitis pigmentosa Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712876	rs_779010679	6 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)	SNV Germline	Chr12:88053733	Pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711362	rs_375548374	6 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027 RCV004818114 RCV005012429
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)	SNV Germline	Chr1:5874988	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA553871	rs_569364202	5 SubmittersRCV001002718 RCV001442994 RCV002279703 RCV005021311
NM_001023570.4(IQCB1):c.488-1G>A	SNV Germline	Chr3:121807444	Pathogenic/Likely pathogenic	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA2567390	rs_779696701	4 SubmittersRCV001002717 RCV005093028
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)	SNV Germline	Chr12:88129717	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385984278	rs_45502896	4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577
NM_025114.4(CEP290):c.297+1G>A	SNV Germline	Chr12:88139144	Pathogenic	Leber congenital amaurosis 10 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA385988563	rs_878853360	3 SubmittersRCV001029956 RCV001380322 RCV002479228
NM_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 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1483406	rs_772544112	4 SubmittersRCV001049952 RCV002469330 RCV004735940
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 Kidney disorder not specified SDCCAG8-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1483642	rs_556191085	6 SubmittersRCV001049051 RCV002294436 RCV001819763 RCV004528356 RCV004691320
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)	SNV Germline	Chr1:243417986	Pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter	CA345667416	rs_2080721288	1 SubmittersRCV001040226
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=)	SNV Germline	Chr1:5877192	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553957	rs_576473519	3 SubmittersRCV001049173 RCV002489608 RCV004536094
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)	SNV Germline	Chr2:110123939	Pathogenic/Likely pathogenic	Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA348086119	rs_1311042980	3 SubmittersRCV001059818 RCV002497439 RCV003467802
NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly)	SNV Germline	Chr2:110148020	Conflicting classifications of pathogenicity	Nephronophthisis Inborn genetic diseases Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Conflicting Classifications	CA1827101	rs_375907280	3 SubmittersRCV001042883 RCV003283887 RCV005029600
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)	SNV Germline	Chr2:110165137	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA348092391	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	CA2567088	rs_778777318	4 SubmittersRCV001041746 RCV001147492 RCV003243418
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)	SNV Germline	Chr4:39234874	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Inborn genetic diseases Spermatogenic failure 72 Nephronophthisis 13 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892057	rs_768082694	3 SubmittersRCV001060443 RCV004678937 RCV005036360
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)	SNV Germline	Chr12:88055700	Pathogenic/Likely pathogenic	Retinal dystrophy Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385976661	rs_2033943937	3 SubmittersRCV001074527 RCV001063917 RCV005012517
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)	SNV Germline	Chr12:88111263	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis 10 Joubert syndrome 5 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712356	rs_199583200	5 SubmittersRCV001057249 RCV001111727 RCV001111724 RCV001111726 RCV001562596 RCV001111723 RCV001111725 RCV001832517 RCV004536115
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)	SNV Germline	Chr12:88136717	Pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 CEP290-related disorder Bardet-Biedl syndrome 14 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6712821	rs_770126103	7 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003228800 RCV003462577 RCV005253701 RCV005532835
NM_025132.4(WDR19):c.961+2T>C	SNV Germline	Chr4:39214673	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA356636295	rs_1728876351	2 SubmittersRCV001043448 RCV002481903
NM_025114.4(CEP290):c.1624-5T>G	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712506	rs_142742071	3 SubmittersRCV001064972 RCV001827420 RCV002468139
NM_015102.5(NPHP4):c.3644+1G>A	SNV Germline	Chr1:5866372	Pathogenic/Likely pathogenic	Retinal dystrophy Kidney disorder Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA17129851	rs_756111113	4 SubmittersRCV001075741 RCV002294437 RCV005021434 RCV005093421
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)	SNV Germline	Chr12:88058869	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977236	rs_2034232539	4 SubmittersRCV001090821 RCV003769016 RCV003469280 RCV005012543
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)	SNV Germline	Chr12:88068626	Pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241149784	rs_750073051	4 SubmittersRCV001090822 RCV002554821 RCV003469281 RCV005012544
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)	SNV Germline	Chr12:88141306	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome CEP290-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6712933	rs_368984997	6 SubmittersRCV001091344 RCV002482162 RCV001862693 RCV004536141 RCV004813738
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=)	SNV Germline	Chr1:5865198	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA553491	rs_377728296	2 SubmittersRCV001098268 RCV001098269 RCV005093472
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	CA415789321	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	CA554080	rs_549982601	2 SubmittersRCV001102313 RCV001102314 RCV001397878
NM_006642.5(SDCCAG8):c.420+12A>G	SNV Germline	Chr1:243274668	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1139656728	rs_2068379887	2 SubmittersRCV001099442 RCV003769063 RCV001099443
NM_006642.5(SDCCAG8):c.741-7T>C	SNV Germline	Chr1:243307982	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483442	rs_755931555	3 SubmittersRCV001095977 RCV001095978 RCV002554887 RCV004734010
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)	SNV Germline	Chr12:88071822	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711638	rs_752046733	2 SubmittersRCV001112803 RCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001462557
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)	SNV Germline	Chr12:88077324	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA241153115	rs_777353443	2 SubmittersRCV001110127 RCV001110129 RCV001110125 RCV001110126 RCV001110128 RCV002067798
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)	SNV Germline	Chr12:88089344	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA481077013	rs_1159465602	2 SubmittersRCV001113346 RCV001114718 RCV001113347 RCV001114719 RCV001114717 RCV001400067
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)	SNV Germline	Chr12:88129875	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712702	rs_200587974	6 SubmittersRCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV004538332 RCV003227912
NM_025114.4(CEP290):c.54G>C (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA481055452	rs_886049885	3 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187 RCV005606766
NM_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	CA53520166	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	CA1827461	rs_767719020	3 SubmittersRCV001136002 RCV001136003 RCV001136004 RCV001412525 RCV004545078
NM_001128178.3(NPHP1):c.1716+15T>C	SNV Germline	Chr2:110129171	Conflicting classifications of pathogenicity	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1826924	rs_368590150	2 SubmittersRCV001131331 RCV001131332 RCV001134326 RCV001856698
NM_001128178.3(NPHP1):c.771+178C>T	SNV Germline	Chr2:110164510	Conflicting classifications of pathogenicity	Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827251	rs_767903893	2 SubmittersRCV001134449 RCV001134450 RCV001134451 RCV001481343
NM_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	CA435245997	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	CA2567112	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	CA2891713	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 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892070	rs_187332731	5 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 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892249	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 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892381	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 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892396	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 Nephronophthisis 4	Criteria Provided Multiple Submitters No Conflicts	CA554964	rs_780905861	4 SubmittersRCV001197495 RCV002294447 RCV003117841 RCV004596424
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	CA354120277	rs_1949225959	2 SubmittersRCV001212634 RCV003462714
NM_006642.5(SDCCAG8):c.221-1G>A	SNV Germline	Chr1:243270977	Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter	CA345474634	rs_2068036602	1 SubmittersRCV001207765
NM_001128178.3(NPHP1):c.771+169G>T	SNV Germline	Chr2:110164519	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Joubert syndrome with renal defect Joubert syndrome and related disorders NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827253	rs_150520157	5 SubmittersRCV001203841 RCV001535975 RCV003462683 RCV003226442 RCV004734043
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)	SNV Germline	Chr4:39189766	Pathogenic/Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA95678493	rs_926405916	2 SubmittersRCV001235420 RCV004812389
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)	SNV Germline	Chr12:88093839	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386006028	rs_886042467	2 SubmittersRCV001237935 RCV002504334
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)	SNV Germline	Chr12:88054359	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711377	rs_200969981	10 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004577955 RCV004538510 RCV004609704 RCV004813996
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)	SNV Germline	Chr12:88071420	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711621	rs_562477272	6 SubmittersRCV001247983 RCV001760286 RCV002499432 RCV001835317 RCV003887972 RCV004538524
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)	SNV Germline	Chr12:88121121	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6712594	rs_189280108	6 SubmittersRCV001244829 RCV002504354 RCV001835216 RCV004538514 RCV004978200 RCV004720814
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)	SNV Germline	Chr4:39253157	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Saldino-Mainzer syndrome	Criteria Provided Single Submitter	CA2892185	rs_766616967	3 SubmittersRCV002251761 RCV001281116 RCV001290088
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)	SNV Germline	Chr12:88079127	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Severe hydrocephalus Encephalocele Polycystic kidney disease Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711738	rs_774410421	4 SubmittersRCV001382992 RCV001257363 RCV005012700 RCV004570649
NM_025114.4(CEP290):c.6271-1G>A	SNV Germline	Chr12:88062779	Likely pathogenic	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Single Submitter		rs_2034579709	1 SubmittersRCV005012702
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)	SNV Germline	Chr12:88089214	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386000583	rs_2036824785	5 SubmittersRCV001390760 RCV004796396 RCV005005128 RCV003120515 RCV003469489
NM_025132.4(WDR19):c.2646-2A>G	SNV Germline	Chr4:39245367	Likely pathogenic	Inborn genetic diseases Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Multiple Submitters No Conflicts	CA356638954	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 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA356641746	rs_1733504639	2 SubmittersRCV001265914 RCV001880104
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)	SNV Germline	Chr12:88117110	Conflicting classifications of pathogenicity	Leber congenital amaurosis Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA385978293	rs_1459958084	3 SubmittersRCV001279555 RCV002493497 RCV005318701
NM_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	CA356632896	rs_1730515128	2 SubmittersRCV001812343 RCV001871671
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)	SNV Germline	Chr1:243274633	Pathogenic	Inborn genetic diseases Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA1483292	rs_768207230	2 SubmittersRCV002932082 RCV002932081
NM_015102.5(NPHP4):c.1169G>A (p.Arg390His)	SNV Germline	Chr1:5933280	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA554601	rs_146637048	3 SubmittersRCV001322792 RCV004727138 RCV005372645
NM_015102.5(NPHP4):c.421G>A (p.Asp141Asn)	SNV Germline	Chr1:5969118	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA554856	rs_763993912	3 SubmittersRCV001312631 RCV005023020 RCV003284170
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 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72	Criteria Provided Conflicting Classifications	CA2892088	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 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 NPHP1-related disorder Nephronophthisis 1	Criteria Provided Multiple Submitters No Conflicts	CA1826966	rs_547352656	5 SubmittersRCV001332330 RCV001382647 RCV001536104 RCV004734126 RCV004594273
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 Single Submitter	CA1483790	rs_752046196	2 SubmittersRCV001998335 RCV004529074
NM_025132.4(WDR19):c.3184-2A>C	SNV Germline	Chr4:39266061	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Renal dysplasia and retinal aplasia Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Spermatogenic failure 72 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA95698821	rs_1020915921	4 SubmittersRCV001970776 RCV003324579 RCV005032046 RCV004820226
NM_015650.4(TRAF3IP1):c.436T>C (p.Ser146Pro)	SNV Germline	Chr2:238328767	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 9	Criteria Provided Conflicting Classifications	CA2198063	rs_190577993	3 SubmittersRCV001363465 RCV004728672
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter)	SNV Germline	Chr3:121808990	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter	CA354106387	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	CA345478019	rs_2070433656	1 SubmittersRCV001377051
NM_025132.4(WDR19):c.1357-2A>T	SNV Germline	Chr4:39217981	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter	CA356631012	rs_1221444922	1 SubmittersRCV001377034
NM_025132.4(WDR19):c.1479+2T>C	SNV Germline	Chr4:39218107	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA2891848	rs_756329385	1 SubmittersRCV001379131
NM_025132.4(WDR19):c.3262-2A>G	SNV Germline	Chr4:39267993	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA2892321	rs_753291151	1 SubmittersRCV001379466
NM_025114.4(CEP290):c.6357+1G>A	SNV Germline	Chr12:88062691	Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA385979054	rs_1196938557	2 SubmittersRCV001378757 RCV005005228
NM_025114.4(CEP290):c.5586+1G>T	SNV Germline	Chr12:88077696	Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA385987996	rs_2035880971	2 SubmittersRCV001377792 RCV005005225
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)	SNV Germline	Chr1:243308032	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA1483447	rs_149038104	3 SubmittersRCV001382396 RCV005361591
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)	SNV Germline	Chr1:243330618	Pathogenic/Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA40445209	rs_964673995	3 SubmittersRCV001384058 RCV004734163
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter)	SNV Germline	Chr4:39194641	Pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA2891607	rs_778039192	1 SubmittersRCV001383659
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	SNV Germline	Chr12:88049300	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385972484	rs_1374014119	3 SubmittersRCV001384498 RCV005614538 RCV002493927
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)	SNV Germline	Chr12:88071364	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA6711612	rs_767426153	3 SubmittersRCV001388961 RCV003469749 RCV005005926
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)	SNV Germline	Chr12:88087884	Pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Condition: not provided CEP290-related disorder Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA385999234	rs_779645669	5 SubmittersRCV001381486 RCV002476720 RCV003156344 RCV004733280 RCV001836389
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr12:88126321	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385982588	rs_2138021345	4 SubmittersRCV001386120 RCV005005236 RCV005409820 RCV003469719
NM_025114.4(CEP290):c.3429G>A (p.Lys1143=)	SNV Germline	Chr12:88092713	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712143	rs_769362204	2 SubmittersRCV001418489 RCV005419123
NM_006642.5(SDCCAG8):c.954A>C (p.Ala318=)	SNV Germline	Chr1:243316779	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA424105426	rs_750272621	2 SubmittersRCV001434499
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)	SNV Germline	Chr12:88080279	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711788	rs_754184488	3 SubmittersRCV001462219 RCV004528501 RCV005005248
NM_015102.5(NPHP4):c.2717G>A (p.Arg906His)	SNV Germline	Chr1:5877193	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553958	rs_77973802	3 SubmittersRCV001506553 RCV005014576 RCV004733359
NM_015102.5(NPHP4):c.3644+1G>T	SNV Germline	Chr1:5866372	Pathogenic/Likely pathogenic	Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA553528	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	CA338057136	rs_1204924769	1 SubmittersRCV001535885
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)	SNV Unknown	Chr12:88096906	Likely pathogenic	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6	Criteria Provided Single Submitter	CA386006874	rs_2137423759	1 SubmittersRCV001535856
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)	SNV Germline	Chr12:88129834	Pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA385985714	rs_2138086844	5 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860 RCV004782757
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)	SNV Germline	Chr4:39244311	Pathogenic/Likely pathogenic	Cone dystrophy 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 Multiple Submitters No Conflicts	CA356637373	rs_775181779	3 SubmittersRCV001591895 RCV002571163 RCV002501946
NM_006642.5(SDCCAG8):c.1356+1G>C	SNV Germline	Chr1:243341174	Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA345474949	rs_2147782314	2 SubmittersRCV001779472 RCV002541103
NM_015102.5(NPHP4):c.518-2A>G	SNV Germline	Chr1:5961951	Likely pathogenic	Condition: not provided Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA554809	rs_761142233	3 SubmittersRCV001782537 RCV002034603 RCV005038321
NM_001023570.4(IQCB1):c.767-2A>G	SNV Germline	Chr3:121797229	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter	CA354121128	rs_2108566215	1 SubmittersRCV001808054
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)	SNV Germline	Chr12:88050365	Pathogenic/Likely pathogenic	CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385973620	rs_1478582091	4 SubmittersRCV001825112 RCV002503334 RCV003470936 RCV002545200
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)	SNV Germline	Chr2:110201460	Conflicting classifications of pathogenicity	Nephronophthisis Inborn genetic diseases Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1	Criteria Provided Conflicting Classifications	CA1827502	rs_368025611	6 SubmittersRCV001913820 RCV002555758 RCV003134231 RCV005023432
NM_025132.4(WDR19):c.3483+1G>C	SNV Germline	Chr4:39270101	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter	CA356646587	rs_2109497413	1 SubmittersRCV002024085
NM_025114.4(CEP290):c.2483+1G>A	SNV Germline	Chr12:88109065	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385972465	rs_2137661795	2 SubmittersRCV002015044 RCV005002763
NM_025114.4(CEP290):c.102+2T>G	SNV Germline	Chr12:88141204	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712915	rs_763226787	5 SubmittersRCV002027685 RCV003471280 RCV002498073 RCV003226528
NM_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	CA356634201	rs_2109300967	1 SubmittersRCV002010585
NM_025132.4(WDR19):c.3184-2A>G	SNV Germline	Chr4:39266061	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter	CA356644647	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	CA345667369	rs_1442457872	1 SubmittersRCV002047017
NM_025114.4(CEP290):c.1359+1G>A	SNV Germline	Chr12:88120996	Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241152412	rs_935130451	3 SubmittersRCV002017506 RCV002507780 RCV003471253
NM_001128178.3(NPHP1):c.729-2A>G	SNV Germline	Chr2:110164732	Likely pathogenic	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA1827284	rs_773781058	3 SubmittersRCV002011188 RCV002492327 RCV003471256
NM_025114.4(CEP290):c.1623+2C>A	SNV Germline	Chr12:88118641	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 CEP290-related disorder Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA385979091	rs_2039218006	4 SubmittersRCV001941065 RCV002484634 RCV004733422 RCV005406213
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)	SNV Germline	Chr4:39278635	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892556	rs_763555032	2 SubmittersRCV001910564 RCV002484542
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter)	SNV Germline	Chr4:39199512	Pathogenic	WDR19-related disorder Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter	CA356632344	rs_1273811425	2 SubmittersRCV004542198 RCV002007147
NM_015102.5(NPHP4):c.3645-10C>A	SNV Germline	Chr1:5865283	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA553510	rs_745843093	2 SubmittersRCV001998422 RCV005016994
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)	SNV Germline	Chr1:243271007	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter	CA345474852	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	CA354102184	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	CA356631505	rs_1232301082	1 SubmittersRCV001946837
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)	SNV Germline	Chr12:88093839	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA386006030	rs_886042467	2 SubmittersRCV001905654 RCV005006155
NM_001128178.3(NPHP1):c.143+1G>C	SNV Germline	Chr2:110201420	Likely pathogenic	Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA53543840	rs_745806504	3 SubmittersRCV001970457 RCV002497908 RCV003471207
NM_025114.4(CEP290):c.3G>A (p.Met1Ile)	SNV Germline	Chr12:88141305	Pathogenic/Likely pathogenic	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA6712932	rs_773525033	2 SubmittersRCV001956388 RCV005002725
NM_025114.4(CEP290):c.181-9A>G	SNV Germline	Chr12:88139573	Conflicting classifications of pathogenicity	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related disorder Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712885	rs_745494615	3 SubmittersRCV002008872 RCV004538715 RCV005008362
NM_025132.4(WDR19):c.1778-2A>C	SNV Germline	Chr4:39228484	Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter	CA356632893	rs_1730514795	1 SubmittersRCV002029683
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr)	SNV Germline	Chr3:121781874	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2567138	rs_776989189	3 SubmittersRCV002020850 RCV002507811 RCV005343272
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)	SNV Germline	Chr2:110168477	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Inborn genetic diseases NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827351	rs_373951297	4 SubmittersRCV002049316 RCV002489940 RCV002545704 RCV004734292
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)	SNV Germline	Chr3:121781820	Pathogenic	Nephronophthisis Senior-Loken syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA82726000	rs_867772426	3 SubmittersRCV001956492 RCV003475250 RCV005419287
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)	SNV Germline	Chr12:88084613	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA385994556	rs_2137182509	3 SubmittersRCV001979757 RCV005006295 RCV005607036
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)	SNV Germline	Chr2:110131704	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA427921736	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	CA356645169	rs_1401145684	2 SubmittersRCV001890451 RCV002503474
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)	SNV Germline	Chr12:88141298	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome CEP290-related disorder Inborn genetic diseases Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA241168932	rs_997653455	4 SubmittersRCV001916478 RCV004733414 RCV004975851 RCV005002661
NM_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	CA356634597	rs_1338996032	1 SubmittersRCV001978430
NM_025114.4(CEP290):c.3378G>A (p.Val1126=)	SNV Germline	Chr12:88092764	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712155	rs_546939043	3 SubmittersRCV002142105 RCV004543835 RCV005002797
NM_025132.4(WDR19):c.164+12A>G	SNV Germline	Chr4:39186616	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA2891549	rs_776617179	2 SubmittersRCV002095120 RCV005025696
NM_025114.4(CEP290):c.298-16G>A	SNV Germline	Chr12:88136802	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712840	rs_531851010	2 SubmittersRCV002078512 RCV005002795
NM_015102.5(NPHP4):c.2829C>T (p.Ser943=)	SNV Germline	Chr1:5875089	Conflicting classifications of pathogenicity	Nephronophthisis NPHP4-related disorder Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA17136612	rs_180721913	3 SubmittersRCV002104123 RCV004531442 RCV005025710
NM_006642.5(SDCCAG8):c.307-5C>T	SNV Germline	Chr1:243274538	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA2573132944	rs_2149268621	2 SubmittersRCV002094474
NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys)	SNV Germline	Chr4:39224887	Pathogenic	Senior-Loken syndrome 8	No Assertion Criteria Provided	CA356631899	rs_1215108056	1 SubmittersRCV002248393
NM_006642.5(SDCCAG8):c.1357-12A>T	SNV Germline	Chr1:243344203	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483629	rs_754786846	2 SubmittersRCV003051401
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)	SNV Germline	Chr12:88059903	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Condition: not provided Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711460	rs_768065164	4 SubmittersRCV003062529 RCV003138466 RCV003465923 RCV005010896
NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter)	SNV Germline	Chr1:5867794	Pathogenic/Likely pathogenic	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA338052190	rs_1414888414	2 SubmittersRCV003075440 RCV005019652
NM_006642.5(SDCCAG8):c.220+17A>G	SNV Germline	Chr1:243270274	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483225	rs_772231725	2 SubmittersRCV003084236
NM_001128178.3(NPHP1):c.771+58C>T	SNV Germline	Chr2:110164630	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA1827270	rs_367600757	3 SubmittersRCV003088842 RCV003465966 RCV005412478
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	CA16609615	rs_1446393665	1 SubmittersRCV002585060
NM_025114.4(CEP290):c.5709+2T>G	SNV Germline	Chr12:88077220	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385987155	rs_2499838601	3 SubmittersRCV002585497 RCV005011021 RCV003465972
NM_001023570.4(IQCB1):c.1059A>G (p.Gln353=)	SNV Germline	Chr3:121790143	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Conflicting Classifications	CA435247301	rs_1398281226	2 SubmittersRCV002633361 RCV005028294
NM_006642.5(SDCCAG8):c.1068+1G>A	SNV Germline	Chr1:243316894	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter	CA345481065	rs_2073290478	1 SubmittersRCV002651436
NM_025114.4(CEP290):c.3461+9A>G	SNV Germline	Chr12:88092672	Conflicting classifications of pathogenicity	Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA606456149	rs_1301659851	2 SubmittersRCV002601022 RCV005008649
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)	SNV Germline	Chr1:243256219	Pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter	CA345478185	rs_1270412613	1 SubmittersRCV002602013
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)	SNV Germline	Chr1:243286374	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA1483328	rs_767375284	2 SubmittersRCV002587370
NM_025132.4(WDR19):c.3483+19C>G	SNV Germline	Chr4:39270119	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892383	rs_759783486	2 SubmittersRCV002725522 RCV005034376
NM_006642.5(SDCCAG8):c.420+1G>C	SNV Germline	Chr1:243274657	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Multiple Submitters No Conflicts	CA40413669	rs_959585740	2 SubmittersRCV002775143
NM_015102.5(NPHP4):c.992+13G>A	SNV Germline	Chr1:5948057	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA737410845	rs_1482179539	2 SubmittersRCV002781493 RCV005027963
NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)	SNV Germline	Chr4:39278539	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA2892540	rs_764296921	2 SubmittersRCV002770803 RCV003434508
NM_006642.5(SDCCAG8):c.1853+2T>A	SNV Germline	Chr1:243418078	Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter	CA345667624	rs_2528456354	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	CA345667057	rs_2528443064	1 SubmittersRCV002796068
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)	SNV Germline	Chr1:243308097	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Single Submitter	CA345479194	rs_2547886035	1 SubmittersRCV002842727
NM_025114.4(CEP290):c.442-1G>A	SNV Germline	Chr12:88131219	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385986700	rs_2040047006	2 SubmittersRCV002880883 RCV005002894
NM_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	CA356646586	rs_2109497413	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	CA356633510	rs_2475202450	1 SubmittersRCV002876098
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)	SNV Germline	Chr4:39203645	Pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Single Submitter	CA356633364	rs_2475075477	1 SubmittersRCV002903042
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)	SNV Germline	Chr4:39218026	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	CA2891840	rs_199991653	2 SubmittersRCV002953227 RCV005034509
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	CA356638419	rs_2475270352	1 SubmittersRCV003013147
NM_025114.4(CEP290):c.2992-1G>T	SNV Germline	Chr12:88097000	Likely pathogenic	CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386007291	rs_2037480294	2 SubmittersRCV003226856 RCV005003038
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)	SNV Germline	Chr3:121781821	Pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter	CA2567124	rs_756943739	1 SubmittersRCV003330255
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)	SNV Germline	Chr1:243308110	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Single Submitter	CA345479223	rs_766435425	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	CA82701113	rs_954179017	1 SubmittersRCV003461749
NM_001023570.4(IQCB1):c.100+1G>A	SNV Unknown	Chr3:121828860	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter	CA354114590	rs_2472529375	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	CA354117093	rs_2472408864	1 SubmittersRCV003469865
NM_001023570.4(IQCB1):c.488-2A>G	SNV Unknown	Chr3:121807445	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter	CA354105883	rs_1559783611	1 SubmittersRCV003469866
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)	SNV Germline	Chr3:121807354	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA354105113	rs_2472452131	2 SubmittersRCV003461751
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)	SNV Unknown	Chr3:121790151	Likely pathogenic	Senior-Loken syndrome 5	Criteria Provided Single Submitter	CA354116875	rs_1948905237	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	CA354106108	rs_1949715312	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	CA354114050	rs_761441175	1 SubmittersRCV003461754
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)	SNV Germline	Chr2:110201437	Pathogenic/Likely pathogenic	Joubert syndrome with renal defect Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA348094090	rs_2467599617	3 SubmittersRCV003463185 RCV005021980 RCV003586427
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)	SNV Germline	Chr12:88089322	Likely pathogenic	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712094	rs_758878983	2 SubmittersRCV003466685 RCV005012981
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)	SNV Germline	Chr12:88083100	Likely pathogenic	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385992803	rs_2499957266	2 SubmittersRCV003466687 RCV005012982
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)	SNV Germline	Chr12:88089325	Likely pathogenic	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA386000812	rs_2500112760	2 SubmittersRCV003466716 RCV005003647
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)	SNV Germline	Chr12:88107013	Pathogenic	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA385971769	rs_1168542133	3 SubmittersRCV003466742 RCV005003648 RCV003779157
NM_001128178.3(NPHP1):c.522+1G>A	SNV Germline	Chr2:110169805	Likely pathogenic	Nephronophthisis NPHP1-related disorder Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA348092775	rs_2467403268	3 SubmittersRCV003587865 RCV004579619 RCV005014801
NM_001128178.3(NPHP1):c.1269+15A>G	SNV Germline	Chr2:110147901	Conflicting classifications of pathogenicity	Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Conflicting Classifications	CA2739271182	rs_2467258975	2 SubmittersRCV005014875 RCV003747887
NM_015102.5(NPHP4):c.3996+17G>C	SNV Germline	Chr1:5864321	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA521016957	rs_1265748598	2 SubmittersRCV003748810 RCV005030232
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	CA2567387	rs_781508757	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	CA356634165	rs_1232649308	1 SubmittersRCV003786262

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
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

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

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

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

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

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

SNV
Germline

Chr12:88083936

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

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

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

SNV
Germline

Chr12:88130324

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003887847 RCV002496228 RCV003466779 RCV004732519

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

SNV
Germline

Chr3:121781772

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA115214

rs_121918244

12 SubmittersRCV000001904 RCV000230781 RCV000505099 RCV000681897 RCV001003059 RCV003398416 RCV003362658

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_001128178.3(NPHP1):c.1716+1G>T

SNV
Germline

Chr2:110129185

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348086755

rs_1233478832

4 SubmittersRCV000003682 RCV001851623 RCV003466796 RCV005016232

NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)

SNV
Germline

Chr2:110163048

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116310

rs_121907899

14 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004018547 RCV005025001 RCV004814818

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

SNV
Germline

Chr4:39231943

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA199262

rs_387906980

10 SubmittersRCV000023681 RCV000169775 RCV001356848 RCV000987440 RCV001047050 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

11 SubmittersRCV000023757 RCV001075299 RCV000800060

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

SNV
Germline

Chr3:121790166

Pathogenic

Senior-Loken syndrome 5
Leber congenital amaurosis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA129461

rs_387907009

6 SubmittersRCV000023758 RCV000504719 RCV000462160

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

SNV
Germline

Chr12:88114488

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641

NM_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
Retinal dystrophy
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA220570

rs_189320299

7 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380 RCV004815000 RCV004734635

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

SNV
Germline

Chr1:5867883

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223178

rs_139767853

14 SubmittersRCV000081715 RCV000292444 RCV000331197 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
Retinal dystrophy
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA148749

rs_35641267

9 SubmittersRCV000081719 RCV000476917 RCV001096418 RCV001098156 RCV001528249 RCV004529858 RCV004815010 RCV005394345

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

SNV
Germline

Chr12:88086456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000402012 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298

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

SNV
Germline

Chr12:88089247

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227967

rs_62640581

9 SubmittersRCV000086289 RCV001199210 RCV002498466 RCV001216498 RCV001831897 RCV003467011

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

SNV
Germline

Chr12:88083888

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227973

rs_62640574

6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008

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

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009

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

SNV
Germline

Chr12:88079219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150915

rs_61941020

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

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

SNV
Germline

Chr4:39218103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA151406

rs_587777349

4 SubmittersRCV000115011 RCV001753491 RCV001854543 RCV001281114

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

SNV
Germline

Chr4:39274945

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA151410

rs_587777351

7 SubmittersRCV000115013 RCV001281118 RCV001854544 RCV000788500 RCV002477273

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

SNV
Germline

Chr4:39273029

Pathogenic/Likely pathogenic

Senior-Loken syndrome 8
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Nephronophthisis 13
Leber congenital amaurosis
WDR19-related disorder
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA151412

rs_79436363

11 SubmittersRCV000115014 RCV000433622 RCV000653250 RCV000850617 RCV003224150 RCV003224149 RCV001262101 RCV005250018 RCV005359057 RCV000754960 RCV005031600

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
Nephronophthisis 13
Connective tissue disorder
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA151414

rs_587777352

9 SubmittersRCV000115015 RCV000516054 RCV000681868 RCV001797626 RCV002277157 RCV001212609

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000262275 RCV000361419 RCV000297299 RCV000321698 RCV000475858 RCV000266641 RCV002505080 RCV001274128 RCV002294036

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

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000293222 RCV000337209 RCV000279934 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037

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

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

8 SubmittersRCV000124248 RCV000319253 RCV000259368 RCV000354431 RCV000472139 RCV000267777 RCV000322977 RCV001812002 RCV001276489 RCV002294038

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

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

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

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

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

7 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV005252766

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

Criteria Provided
Conflicting Classifications

CA234901

rs_118064970

4 SubmittersRCV000153922 RCV001086622 RCV001099561 RCV001099560 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
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

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

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

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV001109956 RCV001110741 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882

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

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

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

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

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445

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

SNV
Germline

Chr2:110178520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234415

rs_140446520

9 SubmittersRCV000153590 RCV000195676 RCV000372811 RCV000515315 RCV000338020 RCV001535425 RCV001094558 RCV004734720

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

5 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
Inborn genetic diseases
WDR19-related disorder
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA235263

rs_187546086

11 SubmittersRCV000154140 RCV000278329 RCV000317115 RCV000723861 RCV001083264 RCV002516102 RCV004532742 RCV002277304

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

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000400108 RCV000291841 RCV000344957 RCV000399776 RCV000346891 RCV001085341 RCV003888583

NM_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
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

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
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA235731

rs_369162678

5 SubmittersRCV000171146 RCV000308383 RCV000346948 RCV001093794 RCV002478540

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

SNV
Germline

Chr1:5874542

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA235733

rs_373369949

5 SubmittersRCV000171147 RCV001058651 RCV002485085 RCV004535163 RCV004815267

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

SNV
Germline

Chr4:39253193

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236213

rs_751386429

5 SubmittersRCV000171376 RCV002515238 RCV004815270 RCV005031700 RCV003989482

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

SNV
Germline

Chr2:110161690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239098

rs_371112962

4 SubmittersRCV000173662 RCV000353470 RCV000390136 RCV000305677 RCV001094562

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

SNV
Germline

Chr2:110161645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239100

rs_794726975

3 SubmittersRCV000173663 RCV001852113 RCV002500458

NM_001023570.4(IQCB1):c.877-10G>A

SNV
Germline

Chr3:121795576

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA239156

rs_371057369

4 SubmittersRCV000173719 RCV005025273 RCV001419219

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

SNV
Germline

Chr1:243344238

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
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
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Condition: not provided
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA240230

rs_151204566

8 SubmittersRCV000174670 RCV000230927 RCV001128803 RCV001128802 RCV001699052 RCV001128804

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

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV001084413 RCV001112002 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV000835406

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

SNV
Germline

Chr1:5890915

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA334827

rs_148424288

11 SubmittersRCV000175205 RCV000204681 RCV000392070 RCV001093856 RCV001573161 RCV002294061

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

SNV
Germline

Chr1:5890969

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240913

rs_191913664

10 SubmittersRCV000724060 RCV000986226 RCV001100471 RCV001088494 RCV004537377 RCV005025279

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

SNV
Germline

Chr1:5874953

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242083

rs_116606479

10 SubmittersRCV000261619 RCV001093746 RCV000367814 RCV000723970 RCV004537396

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

SNV
Germline

Chr12:88102849

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

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

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

Criteria Provided
Conflicting Classifications

CA243432

rs_201065230

11 SubmittersRCV000177288 RCV000764007 RCV000723456 RCV001097312 RCV001081496 RCV001097313 RCV004732745

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

SNV
Germline

Chr12:88089407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000400157 RCV000300808 RCV000335768 RCV000348352 RCV001699223 RCV000198308 RCV001826899 RCV000401126 RCV004528944

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

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

11 SubmittersRCV001036300 RCV000523279 RCV001826904 RCV004816287 RCV002222427 RCV001376454 RCV003468864 RCV005003531

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

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

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

NM_001128178.3(NPHP1):c.330-4G>A

SNV
Germline

Chr2:110170002

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245909

rs_774162169

4 SubmittersRCV000178744 RCV003586162 RCV005025286 RCV004539674

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

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

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

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

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

13 SubmittersRCV000724859 RCV000179538 RCV001275047 RCV001526756 RCV005008108 RCV001082749 RCV004537490 RCV005305978

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

SNV
Germline

Chr1:243308173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA247688

rs_149359674

3 SubmittersRCV000180303 RCV001078537 RCV004537508

NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter)

SNV
Germline

Chr3:121797177

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA203724

rs_794727964

3 SubmittersRCV000180543 RCV005089901 RCV005025289

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

Criteria Provided
Multiple Submitters
No Conflicts

CA207867

rs_797045948

5 SubmittersRCV000194004 RCV001731515 RCV002517977 RCV004530147 RCV004767133

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

SNV
Germline

Chr1:243378748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207762

rs_150646039

4 SubmittersRCV000193940 RCV001558681 RCV000873932 RCV004541252

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

SNV
Germline

Chr12:88086450

Likely pathogenic

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

No Assertion Criteria Provided

CA347348

rs_797044604

1 SubmittersRCV000192446

NM_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
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
not specified
Inborn genetic diseases
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1

Criteria Provided
Conflicting Classifications

CA336743

rs_780427871

6 SubmittersRCV000196832 RCV000730183 RCV001128695 RCV001128696 RCV001135698 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.5932C>T (p.Arg1978Ter)

SNV
Germline

Chr12:88071373

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277735

rs_371525247

8 SubmittersRCV000201627 RCV000598256 RCV003468924 RCV001382359 RCV004798806 RCV004816348 RCV005003554

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

SNV
Germline

Chr12:88079112

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

9 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005623073 RCV005361163

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

SNV
Germline

Chr12:88083161

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

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

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

SNV
Germline

Chr12:88084768

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

14 SubmittersRCV000201597 RCV000521437 RCV001828040 RCV001036850 RCV003155122 RCV002250594 RCV003468926 RCV002485329 RCV004816349

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

SNV
Germline

Chr12:88086083

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

16 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001030764 RCV001002937 RCV000816913 RCV001529566 RCV001589085 RCV004732782 RCV003468919

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

SNV
Germline

Chr12:88111226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA277728

rs_748034744

5 SubmittersRCV000201605 RCV001074504 RCV001471584 RCV005003555 RCV004975329

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

SNV
Germline

Chr12:88118642

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279529

rs_863225186

5 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141

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

SNV
Germline

Chr3:121772683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348358

rs_140630401

8 SubmittersRCV001082244 RCV000519668 RCV003917846 RCV000787845 RCV001147493

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

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386

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

SNV
Germline

Chr12:88117076

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829

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

SNV
Germline

Chr12:88139144

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581686

rs_878853360

7 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003469116 RCV003155133 RCV005003571

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

SNV
Germline

Chr1:5890953

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554238

rs_34248917

8 SubmittersRCV000248287 RCV000364078 RCV000233672 RCV001093858 RCV002294087 RCV003224236 RCV004713425

NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys)

SNV
Germline

Chr1:5927714

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554537

rs_371819898

5 SubmittersRCV000233283 RCV000728565 RCV002487080 RCV002516328 RCV004529410

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

SNV
Germline

Chr12:88055666

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109948 RCV001109944 RCV001109946 RCV004725118

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

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711827

rs_371582975

4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415

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

SNV
Germline

Chr12:88107031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712316

rs_764963626

8 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413

NM_025132.4(WDR19):c.3918-6A>C

SNV
Germline

Chr4:39278533

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892539

rs_199546190

3 SubmittersRCV000239256 RCV000877878 RCV001144715 RCV001150826

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
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

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
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

CA1483504

rs_6672843

3 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
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2891795

rs_199765304

4 SubmittersRCV000246087 RCV000338763 RCV000302521 RCV000952547 RCV001753728

NM_025132.4(WDR19):c.1629A>G (p.Pro543=)

SNV
Germline

Chr4:39225033

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2891894

rs_776659376

3 SubmittersRCV000249693 RCV005243176 RCV005213243

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

SNV
Germline

Chr12:88077777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV000297940 RCV000338834 RCV000342377 RCV001828148

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

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000270848 RCV000383188 RCV000860688 RCV000283968 RCV000328558 RCV000338967 RCV001833282 RCV001546981

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

SNV
Germline

Chr12:88118525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712494

rs_561018129

5 SubmittersRCV000249364 RCV001241555 RCV001195819 RCV005008220 RCV005318354

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

SNV
Germline

Chr12:88118708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001086907 RCV001109701 RCV001109703 RCV001572697 RCV001113718 RCV001113719 RCV001109702

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

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001311004 RCV001113799 RCV001275038 RCV001109774 RCV001113800 RCV001113801 RCV001113802

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602914

rs_886041912

4 SubmittersRCV000320568 RCV001234299 RCV005235249 RCV002494812

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

SNV
Germline

Chr12:88114536

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV002500965 RCV001833301 RCV003463734

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

SNV
Germline

Chr1:5947199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554665

rs_190940697

5 SubmittersRCV000543369 RCV001100780 RCV000357469 RCV003409400 RCV001100781 RCV002294211

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

SNV
Germline

Chr12:88125343

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

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

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

SNV
Germline

Chr12:88106770

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002479997 RCV001380938 RCV003447521 RCV003469220 RCV002222465 RCV004816477

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

SNV
Germline

Chr12:88139566

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10604124

rs_886042359

4 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234

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

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702 RCV001113144

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

Criteria Provided
Conflicting Classifications

CA1483357

rs_143407309

6 SubmittersRCV000404550 RCV001101445 RCV001087041 RCV001101444 RCV004535320

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

SNV
Germline

Chr1:5909210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554499

rs_372565083

7 SubmittersRCV000277373 RCV000332355 RCV000343427 RCV001093815 RCV002519168 RCV003151009 RCV002487222

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000498064 RCV000779117 RCV000473837 RCV000763313 RCV001271571

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

SNV
Germline

Chr4:39245394

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892155

rs_200266424

5 SubmittersRCV000391331 RCV000756917 RCV001089411 RCV002519250 RCV004734931

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

SNV
Germline

Chr4:39240278

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Inborn genetic diseases
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2892066

rs_199904529

5 SubmittersRCV000274698 RCV001088018 RCV002519251 RCV004734932

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

Criteria Provided
Conflicting Classifications

CA554339

rs_372430727

7 SubmittersRCV000308350 RCV000400262 RCV000363050 RCV004543090 RCV001093812

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
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
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
Retinal dystrophy
NPHP4-related disorder
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554739

rs_201124357

7 SubmittersRCV000296994 RCV000324865 RCV000377050 RCV001093864 RCV004816508 RCV004535409 RCV005396895

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

SNV
Germline

Chr2:110163104

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827217

rs_114250691

6 SubmittersRCV000363080 RCV000765499 RCV001084490 RCV004816513 RCV004535410

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

SNV
Germline

Chr2:110124038

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1826867

rs_201460699

6 SubmittersRCV000303839 RCV001067121 RCV005415563 RCV004021253 RCV004734940

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

SNV
Germline

Chr1:5874534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553773

rs_376351293

7 SubmittersRCV000307652 RCV001726088 RCV001100140 RCV000638102 RCV001098357

NM_015102.5(NPHP4):c.1048G>A (p.Gly350Ser)

SNV
Germline

Chr1:5947175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554655

rs_377155892

4 SubmittersRCV000362398 RCV000793846 RCV005025435 RCV004955386

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

SNV
Germline

Chr1:5890913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554221

rs_199628481

4 SubmittersRCV000296052 RCV000298397 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
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

11 SubmittersRCV002467720 RCV005355616 RCV001331377 RCV000454208 RCV001833396 RCV000497486 RCV000801486 RCV002522012 RCV003463776 RCV004537606

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

SNV
Germline

Chr12:88059985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711473

rs_772603458

7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997

NM_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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA553978

rs_112206586

6 SubmittersRCV000284900 RCV000765251 RCV001086833 RCV004537620 RCV004955395

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
SDCCAG8-related disorder
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1483252

rs_140413256

5 SubmittersRCV000276217 RCV000872197 RCV000389243 RCV004537662 RCV005425924 RCV003224254

NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)

SNV
Germline

Chr1:243270994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1483244

rs_146474568

5 SubmittersRCV000310366 RCV000365007 RCV000532918 RCV005425923 RCV004537661

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

SNV
Germline

Chr1:243293116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1483350

rs_150070966

5 SubmittersRCV000342454 RCV000399034 RCV000763845 RCV000522463 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
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA10610219

rs_562484051

3 SubmittersRCV000313161 RCV000365411 RCV001363261 RCV004732835

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

SNV
Germline

Chr1:5865156

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553479

rs_560944258

5 SubmittersRCV000290652 RCV000729809 RCV000382692 RCV002059490 RCV004543176

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

SNV
Germline

Chr1:5865213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553494

rs_199925943

4 SubmittersRCV000312869 RCV000352075 RCV001093796 RCV000595182 RCV004543177

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

Criteria Provided
Conflicting Classifications

CA1827002

rs_149887461

7 SubmittersRCV000261599 RCV000591051 RCV000319080 RCV000385395 RCV001549752 RCV001094595 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
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

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
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

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
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483400

rs_377256554

3 SubmittersRCV000288842 RCV000343855 RCV001493922 RCV004734953

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
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

CA1483636

rs_759125934

2 SubmittersRCV000321346 RCV000380673 RCV003765736

NM_001128178.3(NPHP1):c.771+89A>G

SNV
Germline

Chr2:110164599

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827267

rs_139787582

8 SubmittersRCV000290000 RCV000325159 RCV000381986 RCV000732923 RCV001094596 RCV002487460 RCV004649130 RCV004735468

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

SNV
Germline

Chr2:110169872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827390

rs_143163969

2 SubmittersRCV000267804 RCV000378671 RCV000315824 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

Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554220

rs_373962831

3 SubmittersRCV000338114 RCV000592408 RCV001379795

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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1827219

rs_141763330

5 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593 RCV004816571

NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)

SNV
Germline

Chr2:110165111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10611873

rs_886054755

2 SubmittersRCV000300890 RCV000335771 RCV000399200 RCV005090514

NM_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

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

Criteria Provided
Conflicting Classifications

CA2891791

rs_777985189

3 SubmittersRCV000393193 RCV000342172 RCV004530410 RCV003766008

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

SNV
Germline

Chr4:39217976

Conflicting classifications of pathogenicity

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

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
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

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

Criteria Provided
Conflicting Classifications

CA2891800

rs_772867899

4 SubmittersRCV000298705 RCV000400723 RCV002480216 RCV001850849 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
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

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

Criteria Provided
Conflicting Classifications

CA2892303

rs_371128500

6 SubmittersRCV000289800 RCV000347138 RCV002278579 RCV001726139 RCV001699383 RCV001519086

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

SNV
Germline

Chr4:39182568

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2891496

rs_201198839

2 SubmittersRCV000292560 RCV002057925 RCV000386870

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

SNV
Germline

Chr4:39216219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2891801

rs_201377206

3 SubmittersRCV000353502 RCV000401556 RCV002278577 RCV000878418

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

SNV
Germline

Chr4:39228640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10620972

rs_886059398

2 SubmittersRCV000335670 RCV002523470 RCV000397851

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

SNV
Germline

Chr4:39216026

Conflicting classifications of pathogenicity

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

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
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

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

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

Criteria Provided
Conflicting Classifications

CA2892327

rs_769329045

3 SubmittersRCV000390270 RCV001074268 RCV000341521 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
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892440

rs_201597047

6 SubmittersRCV000288576 RCV000385239 RCV000488404 RCV001083150 RCV004530412 RCV005398477

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

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

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

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

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000305920 RCV000299546 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199

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

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000330322 RCV000372028 RCV000338378 RCV000422198 RCV000387258 RCV004537755

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

SNV
Germline

Chr12:88049259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747

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

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 RCV001409432

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

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627

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

SNV
Germline

Chr12:88087910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638682

rs_548558619

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

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

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375

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

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

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

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212

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

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721

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

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336

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

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001347081 RCV001273072 RCV004732840

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

SNV
Germline

Chr12:88089271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

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

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

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544

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

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002461069 RCV002467729

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

SNV
Germline

Chr12:88141905

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV001642965 RCV000402356

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

SNV
Germline

Chr12:88086400

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749

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

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128

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

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

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

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

SNV
Germline

Chr12:88131209

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712782

rs_757641323

9 SubmittersRCV000414162 RCV000552078 RCV002470852 RCV005010313 RCV000999862 RCV005540072 RCV003463818

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

SNV
Germline

Chr12:88102888

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043473

rs_1057518822

4 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147

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

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

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

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

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV001245037 RCV000765111 RCV000417476 RCV001276484 RCV003889881

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

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

4 SubmittersRCV001112007 RCV001112009 RCV001112452 RCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV002510886

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

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001111899 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898

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

SNV
Germline

Chr4:39244515

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892126

rs_201963605

6 SubmittersRCV000486591 RCV001078579 RCV001146438 RCV001821402 RCV001146437 RCV004535530

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

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

12 SubmittersRCV000687629 RCV001075395 RCV000498458 RCV001535842 RCV002248731 RCV003464071 RCV001271569 RCV002222534

NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)

SNV
Germline

Chr1:243308026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1483446

rs_201869920

9 SubmittersRCV000704873 RCV000504492 RCV001095982 RCV004535620 RCV001095981 RCV001700134 RCV002294338 RCV004817723

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

SNV
Germline

Chr4:39255854

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
WDR19-related disorder
Spermatogenic failure 72
Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13

Criteria Provided
Conflicting Classifications

CA2892240

rs_201354264

8 SubmittersRCV000500098 RCV001532019 RCV002279282 RCV000951959 RCV001149215 RCV001149216 RCV004541573 RCV005398722

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

SNV
Germline

Chr12:88125370

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

6 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914

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

SNV
Germline

Chr4:39268041

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892335

rs_567310076

4 SubmittersRCV002481645 RCV001227801 RCV001811019 RCV004965520

NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)

SNV
Germline

Chr4:39205663

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2891712

rs_375644378

4 SubmittersRCV000515807 RCV001204687 RCV002476032

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

SNV
Germline

Chr4:39205726

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2891724

rs_377160857

4 SubmittersRCV000516052 RCV001851417 RCV005034058

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

SNV
Germline

Chr4:39224887

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
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

CA356647016

rs_1553918403

3 SubmittersRCV000515847 RCV001851418

NM_025132.4(WDR19):c.3716+1G>A

SNV
Germline

Chr4:39274959

Likely pathogenic

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

Criteria Provided
Single Submitter

CA356651027

rs_1191056931

3 SubmittersRCV000515837 RCV005034059

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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2567069

rs_779858591

6 SubmittersRCV000521100 RCV001331479 RCV001851495 RCV003935382 RCV004817754

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

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660

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

SNV
Germline

Chr1:243489095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1483825

rs_191821211

2 SubmittersRCV000554480 RCV001099654 RCV001097855

NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)

SNV
Germline

Chr4:39232258

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892033

rs_144335584

3 SubmittersRCV000542232 RCV001150601 RCV001150602 RCV005398865

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

SNV
Germline

Chr12:88060995

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV001276485 RCV000555880 RCV002491001 RCV003470742

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

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV000550067 RCV001110659 RCV001110660 RCV001112627 RCV001112629 RCV001112628 RCV001821528 RCV003889921

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

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711500

rs_184323010

5 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187 RCV004732937

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

SNV
Germline

Chr12:88121157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712602

rs_773578133

4 SubmittersRCV000526103 RCV000839270 RCV005010500 RCV004537946

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

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV001091342 RCV001199655 RCV000787558 RCV000542843 RCV002289749 RCV002497107

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

SNV
Germline

Chr1:243415802

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345667298

rs_1286714661

4 SubmittersRCV000579189 RCV002530371 RCV004735634 RCV004767416

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

SNV
Germline

Chr12:88083029

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334

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

SNV
Germline

Chr12:88058868

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002282253 RCV002250666 RCV002294351 RCV002506412 RCV003459464

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

SNV
Germline

Chr1:5904749

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA17124406

rs_1025515771

4 SubmittersRCV000594142 RCV001381479 RCV004530676 RCV002497256

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

SNV
Germline

Chr2:110163140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827225

rs_201478764

3 SubmittersRCV000592386 RCV001134446 RCV001134448 RCV001134447 RCV003748247

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

SNV
Germline

Chr1:5904731

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554298

rs_547495754

6 SubmittersRCV001002694 RCV000596610 RCV002286526 RCV001416064 RCV004732955

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

SNV
Germline

Chr1:5867795

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553621

rs_371527260

4 SubmittersRCV000594476 RCV001305765 RCV002497261 RCV004732957

NM_015102.5(NPHP4):c.280-5T>G

SNV
Germline

Chr1:5969264

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA17126050

rs_908276068

3 SubmittersRCV000592053 RCV001045846 RCV002491199

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

SNV
Germline

Chr1:5904739

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554299

rs_375416303

4 SubmittersRCV000595006 RCV001097015 RCV001097016 RCV000862361 RCV004543360

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

SNV
Germline

Chr1:5873275

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553715

rs_41280798

4 SubmittersRCV000638099 RCV000765245 RCV000597836 RCV001096629

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

SNV
Germline

Chr1:5867848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553638

rs_375836844

7 SubmittersRCV000778988 RCV001335698 RCV000595557 RCV001055295 RCV001074439 RCV002476329

NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)

SNV
Germline

Chr2:110144503

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827026

rs_147945403

4 SubmittersRCV000594034 RCV000638098 RCV004543376 RCV005019023

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

SNV
Germline

Chr1:5874527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553770

rs_202004152

13 SubmittersRCV000765247 RCV000592906 RCV001098354 RCV001098353 RCV001054486 RCV004732966

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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA554706

rs_527701970

4 SubmittersRCV000593557 RCV001100782 RCV001100783 RCV001509677 RCV004817806

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

SNV
Germline

Chr3:121781790

Pathogenic

Renal dysplasia and retinal aplasia
Nephronophthisis
Senior-Loken syndrome 5
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA82725920

rs_866982675

5 SubmittersRCV000615076 RCV002529304 RCV004568321 RCV004817814

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

SNV
Germline

Chr2:110123968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348086183

rs_1473345628

3 SubmittersRCV000627303 RCV003117437 RCV005019040

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

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000779118 RCV000763316 RCV000814304 RCV003465363

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

SNV
Germline

Chr12:88125357

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV004732982 RCV003459522

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

SNV
Germline

Chr4:39225027

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2891893

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

CA354117313

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

Criteria Provided
Multiple Submitters
No Conflicts

CA554942

rs_370210428

7 SubmittersRCV000681812 RCV001237139 RCV004817922 RCV004733000 RCV005027837 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
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

CA356630223

rs_1237494778

5 SubmittersRCV000681867 RCV001074270 RCV001212612 RCV003319401 RCV005027838

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

CA1483333

rs_756907665

3 SubmittersRCV000685971 RCV004535707

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

SNV
Germline

Chr2:110161686

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1827180

rs_765263671

4 SubmittersRCV000702943 RCV001200637 RCV003472242 RCV002507229

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

CA354109989

rs_1280238814

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2891975

rs_780847651

2 SubmittersRCV000688346 RCV005034296

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

SNV
Germline

Chr12:88130553

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712767

rs_772170760

7 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002536346 RCV003465619 RCV002499260 RCV005620388

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

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712327

rs_201569048

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

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

SNV
Germline

Chr12:88111318

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712362

rs_753884599

6 SubmittersRCV000710064 RCV001868322 RCV003465647 RCV002493254 RCV004817947 RCV003141716

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

SNV
Germline

Chr1:243270236

Pathogenic

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

Criteria Provided
Single Submitter

CA345474419

rs_756518004

2 SubmittersRCV001868922 RCV000723068

NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr)

SNV
Germline

Chr1:5933211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554592

rs_373614448

4 SubmittersRCV000728100 RCV001366737 RCV002535057 RCV002485854

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

SNV
Germline

Chr1:5887277

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554108

rs_200952409

4 SubmittersRCV000729591 RCV001102316 RCV001087806 RCV001102315 RCV004817956

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

SNV
Germline

Chr1:5948192

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554714

rs_749844096

3 SubmittersRCV000729600 RCV001359189 RCV002499350

NM_015102.5(NPHP4):c.2611+1G>A

SNV
Germline

Chr1:5880113

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA554052

rs_374141736

4 SubmittersRCV000730589 RCV001379686 RCV005027909

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

CA553771

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348093020

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
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA553870

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

CA338060126

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

CA338058446

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

CA554789

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

Criteria Provided
Conflicting Classifications

CA427918973

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

CA2891764

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

Criteria Provided
Conflicting Classifications

CA2892119

rs_753596825

3 SubmittersRCV000756914 RCV001146435 RCV001483312 RCV001146436

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

SNV
Germline

Chr4:39274949

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892447

rs_141039852

2 SubmittersRCV001079233 RCV001811471

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

SNV
Germline

Chr4:39205191

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2891673

rs_751290509

9 SubmittersRCV001074152 RCV001701316 RCV001387309 RCV002225117 RCV005036110

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

SNV
Germline

Chr4:39255958

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2892256

rs_748174246

2 SubmittersRCV001281117 RCV001856174

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

SNV
Germline

Chr1:243270259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1483222

rs_757796329

2 SubmittersRCV001378522 RCV005480480

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

SNV
Germline

Chr1:243293220

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA40424077

rs_1022080658

1 SubmittersRCV002535630

NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)

SNV
Germline

Chr1:243330591

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345482584

rs_770084716

4 SubmittersRCV000785890 RCV005029443 RCV004535915

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

SNV
Germline

Chr12:88071860

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711646

rs_561598805

6 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316 RCV005004418

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

SNV
Germline

Chr12:88077345

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241153138

rs_968692633

10 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318

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

SNV
Germline

Chr1:5867887

Pathogenic/Likely pathogenic

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA553657

rs_758275952

3 SubmittersRCV000792272 RCV001730711 RCV002487641

NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys)

SNV
Germline

Chr3:121807371

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases
Senior-Loken syndrome 5

Criteria Provided
Conflicting Classifications

CA2567374

rs_146796158

3 SubmittersRCV000797327 RCV004027591 RCV005029462

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

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241150716

rs_778030031

6 SubmittersRCV000815985 RCV002495153 RCV003324535 RCV000988881 RCV003467476 RCV004733054

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

SNV
Germline

Chr12:88087934

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385999345

rs_1339975972

3 SubmittersRCV000820623 RCV003467498 RCV005004450

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

SNV
Germline

Chr12:88118549

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712499

rs_760415289

9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV003467439 RCV002487758 RCV004733051 RCV004818045

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

SNV
Germline

Chr12:88136762

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987715

rs_1290241933

8 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052 RCV005004443

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

SNV
Germline

Chr1:243274542

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345476808

rs_1460888769

1 SubmittersRCV000804204

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

SNV
Germline

Chr12:88093980

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA693075676

rs_1302558061

2 SubmittersRCV000824247 RCV005004455

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

SNV
Germline

Chr12:88089085

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712051

rs_377156725

4 SubmittersRCV000827318 RCV002538257 RCV004733059 RCV005004458

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

SNV
Germline

Chr12:88083854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711864

rs_369451049

8 SubmittersRCV001000093 RCV001244303 RCV001830860 RCV003448352 RCV003889992 RCV004029250 RCV004538167 RCV005012383

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

SNV
Germline

Chr1:5873300

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553723

rs_187149431

4 SubmittersRCV000864108 RCV001096630 RCV001096631 RCV004818069 RCV005243376

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

SNV
Germline

Chr1:5877129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553938

rs_199875603

3 SubmittersRCV000861363 RCV001102217 RCV001102216 RCV004540153

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

SNV
Germline

Chr1:5986283

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA554967

rs_145078518

6 SubmittersRCV000861300 RCV001075647 RCV001099064 RCV001099065 RCV004538177 RCV005029522

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

CA2567303

rs_199959360

6 SubmittersRCV000861997 RCV001144731 RCV001701452 RCV003908168

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

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711785

rs_375817905

6 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193 RCV005012385

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

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712401

rs_200454865

8 SubmittersRCV000860704 RCV001111804 RCV001111805 RCV001111806 RCV001111807 RCV001275033 RCV001112276 RCV001546810 RCV004538174 RCV005359613

NM_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
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553794

rs_151151838

5 SubmittersRCV000866116 RCV001100144 RCV001100143 RCV001700474 RCV001726351 RCV004733071

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

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711720

rs_370464321

4 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057 RCV005306188

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

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711789

rs_757738553

5 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110313 RCV001110312 RCV001110314 RCV005012389 RCV004538287 RCV004797884

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

SNV
Germline

Chr12:88090803

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712129

rs_750099379

3 SubmittersRCV000865008 RCV004733070 RCV005012386

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

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712248

rs_546463648

5 SubmittersRCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV001113520 RCV004540210 RCV005626246

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

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712294

rs_147362398

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

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

SNV
Germline

Chr1:243307992

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1483443

rs_138449445

2 SubmittersRCV000873954 RCV001095979 RCV001095980

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

SNV
Germline

Chr12:88126324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241155305

rs_1036812157

2 SubmittersRCV000872788 RCV005012390

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

SNV
Germline

Chr1:243378715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1483660

rs_376414138

5 SubmittersRCV000873379 RCV001701459 RCV001099562 RCV001101536

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

SNV
Germline

Chr4:39224970

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2891882

rs_200692490

3 SubmittersRCV000951175 RCV001144396 RCV001150486 RCV005436399

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

CA2892163

rs_76326086

6 SubmittersRCV000949194 RCV002279655 RCV003106084 RCV004543559

NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys)

SNV
Germline

Chr4:39217992

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
WDR19-related disorder
Spermatogenic failure 72
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

CA2891835

rs_539621646

3 SubmittersRCV001460840 RCV004735860 RCV005036248

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

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711508

rs_372986399

4 SubmittersRCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001114082 RCV000915534 RCV001272014 RCV004533513

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

SNV
Germline

Chr4:39228355

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2891921

rs_190192706

2 SubmittersRCV000981651 RCV001146290 RCV001146291

NM_025132.4(WDR19):c.1250-1G>A

SNV
Germline

Chr4:39217133

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356630606

rs_1327583103

2 SubmittersRCV000987439 RCV005036256

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

SNV
Germline

Chr12:88139522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712876

rs_779010679

6 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415

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

SNV
Germline

Chr12:88053733

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711362

rs_375548374

6 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027 RCV004818114 RCV005012429

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

SNV
Germline

Chr1:5874988

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553871

rs_569364202

5 SubmittersRCV001002718 RCV001442994 RCV002279703 RCV005021311

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

SNV
Germline

Chr3:121807444

Pathogenic/Likely pathogenic

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA2567390

rs_779696701

4 SubmittersRCV001002717 RCV005093028

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

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385984278

rs_45502896

4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577

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

SNV
Germline

Chr12:88139144

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385988563

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

NM_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
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1483406

rs_772544112

4 SubmittersRCV001049952 RCV002469330 RCV004735940

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
Kidney disorder
not specified
SDCCAG8-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1483642

rs_556191085

6 SubmittersRCV001049051 RCV002294436 RCV001819763 RCV004528356 RCV004691320

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

SNV
Germline

Chr1:243417986

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA345667416

rs_2080721288

1 SubmittersRCV001040226

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

SNV
Germline

Chr1:5877192

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553957

rs_576473519

3 SubmittersRCV001049173 RCV002489608 RCV004536094

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

SNV
Germline

Chr2:110123939

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348086119

rs_1311042980

3 SubmittersRCV001059818 RCV002497439 RCV003467802

NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly)

SNV
Germline

Chr2:110148020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827101

rs_375907280

3 SubmittersRCV001042883 RCV003283887 RCV005029600

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

SNV
Germline

Chr2:110165137

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348092391

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

CA2567088

rs_778777318

4 SubmittersRCV001041746 RCV001147492 RCV003243418

NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)

SNV
Germline

Chr4:39234874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892057

rs_768082694

3 SubmittersRCV001060443 RCV004678937 RCV005036360

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

SNV
Germline

Chr12:88055700

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385976661

rs_2033943937

3 SubmittersRCV001074527 RCV001063917 RCV005012517

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

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712356

rs_199583200

5 SubmittersRCV001057249 RCV001111727 RCV001111724 RCV001111726 RCV001562596 RCV001111723 RCV001111725 RCV001832517 RCV004536115

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

SNV
Germline

Chr12:88136717

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712821

rs_770126103

7 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003228800 RCV003462577 RCV005253701 RCV005532835

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

SNV
Germline

Chr4:39214673

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356636295

rs_1728876351

2 SubmittersRCV001043448 RCV002481903

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712506

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

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

SNV
Germline

Chr1:5866372

Pathogenic/Likely pathogenic

Retinal dystrophy
Kidney disorder
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA17129851

rs_756111113

4 SubmittersRCV001075741 RCV002294437 RCV005021434 RCV005093421

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

SNV
Germline

Chr12:88058869

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977236

rs_2034232539

4 SubmittersRCV001090821 RCV003769016 RCV003469280 RCV005012543

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

SNV
Germline

Chr12:88068626

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241149784

rs_750073051

4 SubmittersRCV001090822 RCV002554821 RCV003469281 RCV005012544

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

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712933

rs_368984997

6 SubmittersRCV001091344 RCV002482162 RCV001862693 RCV004536141 RCV004813738

NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=)

SNV
Germline

Chr1:5865198

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553491

rs_377728296

2 SubmittersRCV001098268 RCV001098269 RCV005093472

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

CA415789321

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

CA554080

rs_549982601

2 SubmittersRCV001102313 RCV001102314 RCV001397878

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

SNV
Germline

Chr1:243274668

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1139656728

rs_2068379887

2 SubmittersRCV001099442 RCV003769063 RCV001099443

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

SNV
Germline

Chr1:243307982

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1483442

rs_755931555

3 SubmittersRCV001095977 RCV001095978 RCV002554887 RCV004734010

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

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711638

rs_752046733

2 SubmittersRCV001112803 RCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001462557

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

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241153115

rs_777353443

2 SubmittersRCV001110127 RCV001110129 RCV001110125 RCV001110126 RCV001110128 RCV002067798

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

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA481077013

rs_1159465602

2 SubmittersRCV001113346 RCV001114718 RCV001113347 RCV001114719 RCV001114717 RCV001400067

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

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712702

rs_200587974

6 SubmittersRCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV004538332 RCV003227912

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA481055452

rs_886049885

3 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187 RCV005606766

NM_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

CA53520166

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

CA1827461

rs_767719020

3 SubmittersRCV001136002 RCV001136003 RCV001136004 RCV001412525 RCV004545078

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

SNV
Germline

Chr2:110129171

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1826924

rs_368590150

2 SubmittersRCV001131331 RCV001131332 RCV001134326 RCV001856698

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

SNV
Germline

Chr2:110164510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827251

rs_767903893

2 SubmittersRCV001134449 RCV001134450 RCV001134451 RCV001481343

NM_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

CA435245997

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

CA2567112

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

CA2891713

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

Criteria Provided
Conflicting Classifications

CA2892070

rs_187332731

5 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
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892249

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
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892381

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
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892396

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
Nephronophthisis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA554964

rs_780905861

4 SubmittersRCV001197495 RCV002294447 RCV003117841 RCV004596424

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

CA354120277

rs_1949225959

2 SubmittersRCV001212634 RCV003462714

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

SNV
Germline

Chr1:243270977

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA345474634

rs_2068036602

1 SubmittersRCV001207765

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

SNV
Germline

Chr2:110164519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827253

rs_150520157

5 SubmittersRCV001203841 RCV001535975 RCV003462683 RCV003226442 RCV004734043

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

SNV
Germline

Chr4:39189766

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA95678493

rs_926405916

2 SubmittersRCV001235420 RCV004812389

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

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386006028

rs_886042467

2 SubmittersRCV001237935 RCV002504334

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

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711377

rs_200969981

10 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004577955 RCV004538510 RCV004609704 RCV004813996

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

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711621

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV002499432 RCV001835317 RCV003887972 RCV004538524

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

SNV
Germline

Chr12:88121121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712594

rs_189280108

6 SubmittersRCV001244829 RCV002504354 RCV001835216 RCV004538514 RCV004978200 RCV004720814

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

SNV
Germline

Chr4:39253157

Likely pathogenic

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

Criteria Provided
Single Submitter

CA2892185

rs_766616967

3 SubmittersRCV002251761 RCV001281116 RCV001290088

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

SNV
Germline

Chr12:88079127

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711738

rs_774410421

4 SubmittersRCV001382992 RCV001257363 RCV005012700 RCV004570649

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

SNV
Germline

Chr12:88062779

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2034579709

1 SubmittersRCV005012702

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

SNV
Germline

Chr12:88089214

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000583

rs_2036824785

5 SubmittersRCV001390760 RCV004796396 RCV005005128 RCV003120515 RCV003469489

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

SNV
Germline

Chr4:39245367

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356638954

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
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA356641746

rs_1733504639

2 SubmittersRCV001265914 RCV001880104

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

SNV
Germline

Chr12:88117110

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA385978293

rs_1459958084

3 SubmittersRCV001279555 RCV002493497 RCV005318701

NM_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

CA356632896

rs_1730515128

2 SubmittersRCV001812343 RCV001871671

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

SNV
Germline

Chr1:243274633

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1483292

rs_768207230

2 SubmittersRCV002932082 RCV002932081

NM_015102.5(NPHP4):c.1169G>A (p.Arg390His)

SNV
Germline

Chr1:5933280

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA554601

rs_146637048

3 SubmittersRCV001322792 RCV004727138 RCV005372645

NM_015102.5(NPHP4):c.421G>A (p.Asp141Asn)

SNV
Germline

Chr1:5969118

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA554856

rs_763993912

3 SubmittersRCV001312631 RCV005023020 RCV003284170

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

Criteria Provided
Conflicting Classifications

CA2892088

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1826966

rs_547352656

5 SubmittersRCV001332330 RCV001382647 RCV001536104 RCV004734126 RCV004594273

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
Single Submitter

CA1483790

rs_752046196

2 SubmittersRCV001998335 RCV004529074

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

SNV
Germline

Chr4:39266061

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA95698821

rs_1020915921

4 SubmittersRCV001970776 RCV003324579 RCV005032046 RCV004820226

NM_015650.4(TRAF3IP1):c.436T>C (p.Ser146Pro)

SNV
Germline

Chr2:238328767

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 9

Criteria Provided
Conflicting Classifications

CA2198063

rs_190577993

3 SubmittersRCV001363465 RCV004728672

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

SNV
Germline

Chr3:121808990

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

CA354106387

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

CA345478019

rs_2070433656

1 SubmittersRCV001377051

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

SNV
Germline

Chr4:39217981

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

CA356631012

rs_1221444922

1 SubmittersRCV001377034

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

SNV
Germline

Chr4:39218107

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA2891848

rs_756329385

1 SubmittersRCV001379131

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

SNV
Germline

Chr4:39267993

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA2892321

rs_753291151

1 SubmittersRCV001379466

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

SNV
Germline

Chr12:88062691

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385979054

rs_1196938557

2 SubmittersRCV001378757 RCV005005228

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

SNV
Germline

Chr12:88077696

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987996

rs_2035880971

2 SubmittersRCV001377792 RCV005005225

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

SNV
Germline

Chr1:243308032

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1483447

rs_149038104

3 SubmittersRCV001382396 RCV005361591

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

SNV
Germline

Chr1:243330618

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA40445209

rs_964673995

3 SubmittersRCV001384058 RCV004734163

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

SNV
Germline

Chr4:39194641

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA2891607

rs_778039192

1 SubmittersRCV001383659

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

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385972484

rs_1374014119

3 SubmittersRCV001384498 RCV005614538 RCV002493927

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

SNV
Germline

Chr12:88071364

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711612

rs_767426153

3 SubmittersRCV001388961 RCV003469749 RCV005005926

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

SNV
Germline

Chr12:88087884

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385999234

rs_779645669

5 SubmittersRCV001381486 RCV002476720 RCV003156344 RCV004733280 RCV001836389

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

SNV
Germline

Chr12:88126321

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385982588

rs_2138021345

4 SubmittersRCV001386120 RCV005005236 RCV005409820 RCV003469719

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

SNV
Germline

Chr12:88092713

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712143

rs_769362204

2 SubmittersRCV001418489 RCV005419123

NM_006642.5(SDCCAG8):c.954A>C (p.Ala318=)

SNV
Germline

Chr1:243316779

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA424105426

rs_750272621

2 SubmittersRCV001434499

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

SNV
Germline

Chr12:88080279

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711788

rs_754184488

3 SubmittersRCV001462219 RCV004528501 RCV005005248

NM_015102.5(NPHP4):c.2717G>A (p.Arg906His)

SNV
Germline

Chr1:5877193

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA553958

rs_77973802

3 SubmittersRCV001506553 RCV005014576 RCV004733359

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

SNV
Germline

Chr1:5866372

Pathogenic/Likely pathogenic

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA553528

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

CA338057136

rs_1204924769

1 SubmittersRCV001535885

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

SNV
Unknown

Chr12:88096906

Likely pathogenic

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

Criteria Provided
Single Submitter

CA386006874

rs_2137423759

1 SubmittersRCV001535856

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

SNV
Germline

Chr12:88129834

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385985714

rs_2138086844

5 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860 RCV004782757

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

SNV
Germline

Chr4:39244311

Pathogenic/Likely pathogenic

Cone dystrophy
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
Multiple Submitters
No Conflicts

CA356637373

rs_775181779

3 SubmittersRCV001591895 RCV002571163 RCV002501946

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

SNV
Germline

Chr1:243341174

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345474949

rs_2147782314

2 SubmittersRCV001779472 RCV002541103

NM_015102.5(NPHP4):c.518-2A>G

SNV
Germline

Chr1:5961951

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA554809

rs_761142233

3 SubmittersRCV001782537 RCV002034603 RCV005038321

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

SNV
Germline

Chr3:121797229

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

CA354121128

rs_2108566215

1 SubmittersRCV001808054

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

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385973620

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV003470936 RCV002545200

NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)

SNV
Germline

Chr2:110201460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827502

rs_368025611

6 SubmittersRCV001913820 RCV002555758 RCV003134231 RCV005023432

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

SNV
Germline

Chr4:39270101

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

CA356646587

rs_2109497413

1 SubmittersRCV002024085

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

SNV
Germline

Chr12:88109065

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385972465

rs_2137661795

2 SubmittersRCV002015044 RCV005002763

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

SNV
Germline

Chr12:88141204

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712915

rs_763226787

5 SubmittersRCV002027685 RCV003471280 RCV002498073 RCV003226528

NM_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

CA356634201

rs_2109300967

1 SubmittersRCV002010585

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

SNV
Germline

Chr4:39266061

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

CA356644647

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

CA345667369

rs_1442457872

1 SubmittersRCV002047017

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

SNV
Germline

Chr12:88120996

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA241152412

rs_935130451

3 SubmittersRCV002017506 RCV002507780 RCV003471253

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

SNV
Germline

Chr2:110164732

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1827284

rs_773781058

3 SubmittersRCV002011188 RCV002492327 RCV003471256

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

SNV
Germline

Chr12:88118641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA385979091

rs_2039218006

4 SubmittersRCV001941065 RCV002484634 RCV004733422 RCV005406213

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

SNV
Germline

Chr4:39278635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892556

rs_763555032

2 SubmittersRCV001910564 RCV002484542

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

SNV
Germline

Chr4:39199512

Pathogenic

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

Criteria Provided
Single Submitter

CA356632344

rs_1273811425

2 SubmittersRCV004542198 RCV002007147

NM_015102.5(NPHP4):c.3645-10C>A

SNV
Germline

Chr1:5865283

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA553510

rs_745843093

2 SubmittersRCV001998422 RCV005016994

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

SNV
Germline

Chr1:243271007

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345474852

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

CA354102184

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

CA356631505

rs_1232301082

1 SubmittersRCV001946837

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

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386006030

rs_886042467

2 SubmittersRCV001905654 RCV005006155

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

SNV
Germline

Chr2:110201420

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA53543840

rs_745806504

3 SubmittersRCV001970457 RCV002497908 RCV003471207

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

SNV
Germline

Chr12:88141305

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712932

rs_773525033

2 SubmittersRCV001956388 RCV005002725

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

SNV
Germline

Chr12:88139573

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712885

rs_745494615

3 SubmittersRCV002008872 RCV004538715 RCV005008362

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

SNV
Germline

Chr4:39228484

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

CA356632893

rs_1730514795

1 SubmittersRCV002029683

NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr)

SNV
Germline

Chr3:121781874

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2567138

rs_776989189

3 SubmittersRCV002020850 RCV002507811 RCV005343272

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

SNV
Germline

Chr2:110168477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827351

rs_373951297

4 SubmittersRCV002049316 RCV002489940 RCV002545704 RCV004734292

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

SNV
Germline

Chr3:121781820

Pathogenic

Nephronophthisis
Senior-Loken syndrome 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA82726000

rs_867772426

3 SubmittersRCV001956492 RCV003475250 RCV005419287

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

SNV
Germline

Chr12:88084613

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385994556

rs_2137182509

3 SubmittersRCV001979757 RCV005006295 RCV005607036

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

SNV
Germline

Chr2:110131704

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA427921736

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

CA356645169

rs_1401145684

2 SubmittersRCV001890451 RCV002503474

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

SNV
Germline

Chr12:88141298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241168932

rs_997653455

4 SubmittersRCV001916478 RCV004733414 RCV004975851 RCV005002661

NM_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

CA356634597

rs_1338996032

1 SubmittersRCV001978430

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

SNV
Germline

Chr12:88092764

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712155

rs_546939043

3 SubmittersRCV002142105 RCV004543835 RCV005002797

NM_025132.4(WDR19):c.164+12A>G

SNV
Germline

Chr4:39186616

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA2891549

rs_776617179

2 SubmittersRCV002095120 RCV005025696

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

SNV
Germline

Chr12:88136802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712840

rs_531851010

2 SubmittersRCV002078512 RCV005002795

NM_015102.5(NPHP4):c.2829C>T (p.Ser943=)

SNV
Germline

Chr1:5875089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA17136612

rs_180721913

3 SubmittersRCV002104123 RCV004531442 RCV005025710

NM_006642.5(SDCCAG8):c.307-5C>T

SNV
Germline

Chr1:243274538

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA2573132944

rs_2149268621

2 SubmittersRCV002094474

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

SNV
Germline

Chr4:39224887

Pathogenic

Senior-Loken syndrome 8

No Assertion Criteria Provided

CA356631899

rs_1215108056

1 SubmittersRCV002248393

NM_006642.5(SDCCAG8):c.1357-12A>T

SNV
Germline

Chr1:243344203

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483629

rs_754786846

2 SubmittersRCV003051401

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

SNV
Germline

Chr12:88059903

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711460

rs_768065164

4 SubmittersRCV003062529 RCV003138466 RCV003465923 RCV005010896

NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter)

SNV
Germline

Chr1:5867794

Pathogenic/Likely pathogenic

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA338052190

rs_1414888414

2 SubmittersRCV003075440 RCV005019652

NM_006642.5(SDCCAG8):c.220+17A>G

SNV
Germline

Chr1:243270274

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483225

rs_772231725

2 SubmittersRCV003084236

NM_001128178.3(NPHP1):c.771+58C>T

SNV
Germline

Chr2:110164630

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1827270

rs_367600757

3 SubmittersRCV003088842 RCV003465966 RCV005412478

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

CA16609615

rs_1446393665

1 SubmittersRCV002585060

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

SNV
Germline

Chr12:88077220

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987155

rs_2499838601

3 SubmittersRCV002585497 RCV005011021 RCV003465972

NM_001023570.4(IQCB1):c.1059A>G (p.Gln353=)

SNV
Germline

Chr3:121790143

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Conflicting Classifications

CA435247301

rs_1398281226

2 SubmittersRCV002633361 RCV005028294

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

SNV
Germline

Chr1:243316894

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345481065

rs_2073290478

1 SubmittersRCV002651436

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

SNV
Germline

Chr12:88092672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606456149

rs_1301659851

2 SubmittersRCV002601022 RCV005008649

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

SNV
Germline

Chr1:243256219

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA345478185

rs_1270412613

1 SubmittersRCV002602013

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

SNV
Germline

Chr1:243286374

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA1483328

rs_767375284

2 SubmittersRCV002587370

NM_025132.4(WDR19):c.3483+19C>G

SNV
Germline

Chr4:39270119

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892383

rs_759783486

2 SubmittersRCV002725522 RCV005034376

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

SNV
Germline

Chr1:243274657

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA40413669

rs_959585740

2 SubmittersRCV002775143

NM_015102.5(NPHP4):c.992+13G>A

SNV
Germline

Chr1:5948057

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA737410845

rs_1482179539

2 SubmittersRCV002781493 RCV005027963

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

SNV
Germline

Chr4:39278539

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2892540

rs_764296921

2 SubmittersRCV002770803 RCV003434508

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

SNV
Germline

Chr1:243418078

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345667624

rs_2528456354

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

CA345667057

rs_2528443064

1 SubmittersRCV002796068

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

SNV
Germline

Chr1:243308097

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345479194

rs_2547886035

1 SubmittersRCV002842727

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

SNV
Germline

Chr12:88131219

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385986700

rs_2040047006

2 SubmittersRCV002880883 RCV005002894

NM_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

CA356646586

rs_2109497413

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

CA356633510

rs_2475202450

1 SubmittersRCV002876098

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

SNV
Germline

Chr4:39203645

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

CA356633364

rs_2475075477

1 SubmittersRCV002903042

NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)

SNV
Germline

Chr4:39218026

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

CA2891840

rs_199991653

2 SubmittersRCV002953227 RCV005034509

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

CA356638419

rs_2475270352

1 SubmittersRCV003013147

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

SNV
Germline

Chr12:88097000

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386007291

rs_2037480294

2 SubmittersRCV003226856 RCV005003038

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

SNV
Germline

Chr3:121781821

Pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

CA2567124

rs_756943739

1 SubmittersRCV003330255

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

SNV
Germline

Chr1:243308110

Pathogenic

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

Criteria Provided
Single Submitter

CA345479223

rs_766435425

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

CA82701113

rs_954179017

1 SubmittersRCV003461749

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

SNV
Unknown

Chr3:121828860

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

CA354114590

rs_2472529375

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

CA354117093

rs_2472408864

1 SubmittersRCV003469865

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

SNV
Unknown

Chr3:121807445

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

CA354105883

rs_1559783611

1 SubmittersRCV003469866

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

SNV
Germline

Chr3:121807354

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA354105113

rs_2472452131

2 SubmittersRCV003461751

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

SNV
Unknown

Chr3:121790151

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

CA354116875

rs_1948905237

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

CA354106108

rs_1949715312

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

CA354114050

rs_761441175

1 SubmittersRCV003461754

NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr2:110201437

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348094090

rs_2467599617

3 SubmittersRCV003463185 RCV005021980 RCV003586427

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

SNV
Germline

Chr12:88089322

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712094

rs_758878983

2 SubmittersRCV003466685 RCV005012981

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

SNV
Germline

Chr12:88083100

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385992803

rs_2499957266

2 SubmittersRCV003466687 RCV005012982

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

SNV
Germline

Chr12:88089325

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386000812

rs_2500112760

2 SubmittersRCV003466716 RCV005003647

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

SNV
Germline

Chr12:88107013

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385971769

rs_1168542133

3 SubmittersRCV003466742 RCV005003648 RCV003779157

NM_001128178.3(NPHP1):c.522+1G>A

SNV
Germline

Chr2:110169805

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348092775

rs_2467403268

3 SubmittersRCV003587865 RCV004579619 RCV005014801

NM_001128178.3(NPHP1):c.1269+15A>G

SNV
Germline

Chr2:110147901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2739271182

rs_2467258975

2 SubmittersRCV005014875 RCV003747887

NM_015102.5(NPHP4):c.3996+17G>C

SNV
Germline

Chr1:5864321

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA521016957

rs_1265748598

2 SubmittersRCV003748810 RCV005030232

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

CA2567387

rs_781508757

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

CA356634165

rs_1232649308

1 SubmittersRCV003786262

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

SNV
Germline

Chr12:88093754

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606675736

rs_1400483491

2 SubmittersRCV003781036 RCV005013180

NM_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

CA356632041

rs_1476588496

1 SubmittersRCV003789506

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

SNV
Germline

Chr12:88114419

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385976715

rs_2038915208

3 SubmittersRCV005003714 RCV003793380 RCV004573320

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

SNV
Germline

Chr12:88120277

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385980285

rs_2501054131

2 SubmittersRCV003779392 RCV005003707

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

SNV
Germline

Chr12:88111311

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385974663

rs_2500744133

2 SubmittersRCV003780009 RCV004796843

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

SNV
Germline

Chr12:88130253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606454199

rs_1165909730

2 SubmittersRCV003789091 RCV005003709

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

SNV
Germline

Chr12:88136801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712837

rs_756197493

2 SubmittersRCV003787834 RCV005013178

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

SNV
Germline

Chr12:88060812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA606675628

rs_1359522025

2 SubmittersRCV003786965 RCV005003710

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

SNV
Germline

Chr12:88117067

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385978111

rs_2500867184

2 SubmittersRCV005003719 RCV003808415

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

SNV
Germline

Chr4:39240275

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356636757

rs_2475244297

2 SubmittersRCV003799591 RCV005254873

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

SNV
Germline

Chr12:88089484

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386001394

rs_2500121621

2 SubmittersRCV003791609 RCV005013192

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

SNV
Germline

Chr4:39234789

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA356635183

rs_2475219909

1 SubmittersRCV003805473

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

SNV
Germline

Chr12:88111717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385974857

rs_1438792443

2 SubmittersRCV003805604 RCV005013194

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

SNV
Germline

Chr4:39234788

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA95677687

rs_978366659

1 SubmittersRCV003805719

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

SNV
Germline

Chr12:88130544

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712765

rs_779409629

4 SubmittersRCV003805876 RCV004733652 RCV005003718 RCV005407255

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

SNV
Germline

Chr4:39253187

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA356641197

rs_2475315582

1 SubmittersRCV003806265

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

SNV
Germline

Chr12:88136642

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385987068

rs_1184012636

2 SubmittersRCV003799241 RCV005003716

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

SNV
Germline

Chr4:39253188

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA356641200

rs_2475315591

1 SubmittersRCV003797459

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

SNV
Germline

Chr12:88071882

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385985036

rs_2499744201

3 SubmittersRCV003801218 RCV005013196 RCV005616803

NM_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

CA345479059

rs_2547885939

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

CA354114599

rs_1193996130

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

rs_760296374

1 SubmittersRCV004576754

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

SNV
Unknown

Chr3:121781811

Pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

rs_1948507892

1 SubmittersRCV004576756

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

SNV
Unknown

Chr3:121790072

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

rs_2472408270

1 SubmittersRCV004576759

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

SNV
Unknown

Chr3:121795456

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

rs_2472422216

1 SubmittersRCV004576761

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

SNV
Unknown

Chr3:121808915

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

rs_1949714664

1 SubmittersRCV004576763

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

SNV
Unknown

Chr3:121770576

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

rs_2547577746

1 SubmittersRCV004576764

NM_025114.4(CEP290):c.5364+1G>A

SNV
Germline

Chr12:88079091

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004596667 RCV005006455

NM_015102.5(NPHP4):c.1535G>A (p.Arg512Gln)

SNV
Germline

Chr1:5907191

Conflicting classifications of pathogenicity

Inborn genetic diseases
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004650293 RCV005038758

NM_006642.5(SDCCAG8):c.511G>T (p.Glu171Ter)

SNV
Germline

Chr1:243286362

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004735013 RCV004759448 RCV005221019

NM_025132.4(WDR19):c.1484G>A (p.Gly495Asp)

SNV
Germline

Chr4:39224888

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795513

NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter)

SNV
Germline

Chr2:110169979

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795762

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

SNV
Germline

Chr1:243274542

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005023839

NM_006642.5(SDCCAG8):c.741-2A>G

SNV
Germline

Chr1:243307987

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005020626

NM_006642.5(SDCCAG8):c.930-2A>C

SNV
Germline

Chr1:243316753

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005023990

NM_006642.5(SDCCAG8):c.1357-2A>G

SNV
Germline

Chr1:243344213

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005022551

NM_006642.5(SDCCAG8):c.1618C>T (p.Gln540Ter)

SNV
Germline

Chr1:243415703

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005026031

NM_006642.5(SDCCAG8):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr1:243415790

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005026032

NM_001128178.3(NPHP1):c.1735G>T (p.Glu579Ter)

SNV
Germline

Chr2:110125663

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028761

NM_001128178.3(NPHP1):c.1530-1G>A

SNV
Germline

Chr2:110131792

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028763

NM_001128178.3(NPHP1):c.1352+1G>A

SNV
Germline

Chr2:110146752

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028765

NM_001128178.3(NPHP1):c.859+1G>A

SNV
Germline

Chr2:110163047

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005015993

NM_001128178.3(NPHP1):c.771+170T>G

SNV
Germline

Chr2:110164518

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028770

NM_001128178.3(NPHP1):c.523-1G>T

SNV
Germline

Chr2:110168554

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005016003

NM_001128178.3(NPHP1):c.501A>G (p.Gln167=)

SNV
Germline

Chr2:110169827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005016005 RCV005063233

NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr2:110204938

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005016013

NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr2:110204968

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005028779

NM_015102.5(NPHP4):c.4141-2A>G

SNV
Germline

Chr1:5863407

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005024258

NM_025114.4(CEP290):c.6964A>T (p.Lys2322Ter)

SNV
Germline

Chr12:88054410

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005390

NM_025114.4(CEP290):c.6960+1G>A

SNV
Germline

Chr12:88055575

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011623

NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)

SNV
Germline

Chr12:88060838

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005397

NM_025114.4(CEP290):c.6358-2A>C

SNV
Germline

Chr12:88060996

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011635

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

SNV
Germline

Chr12:88063980

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005399

NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)

SNV
Germline

Chr12:88071424

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005403

NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)

SNV
Germline

Chr12:88071901

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005404

NM_025114.4(CEP290):c.5710-2A>G

SNV
Germline

Chr12:88071928

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005405

NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)

SNV
Germline

Chr12:88077272

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005011643 RCV005218404

NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)

SNV
Germline

Chr12:88080283

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011646

NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)

SNV
Germline

Chr12:88083086

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011651

NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)

SNV
Germline

Chr12:88089472

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005424

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

SNV
Germline

Chr12:88093879

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011670

NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)

SNV
Germline

Chr12:88106773

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011676

NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)

SNV
Germline

Chr12:88111302

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011682

NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)

SNV
Germline

Chr12:88118483

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011688

NM_025114.4(CEP290):c.1624-1G>C

SNV
Germline

Chr12:88118571

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005441

NM_025114.4(CEP290):c.566C>G (p.Ser189Ter)

SNV
Germline

Chr12:88130371

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005005453

NM_006642.5(SDCCAG8):c.1A>T (p.Met1Leu)

SNV
Germline

Chr1:243256174

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005020518

NM_006642.5(SDCCAG8):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:243256176

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005023811

NM_015102.5(NPHP4):c.2689C>T (p.Gln897Ter)

SNV
Germline

Chr1:5877221

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005021033

NM_015102.5(NPHP4):c.2606C>G (p.Ser869Ter)

SNV
Germline

Chr1:5880119

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005026514

NM_015102.5(NPHP4):c.1956-1G>A

SNV
Germline

Chr1:5904805

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005038979

NM_015102.5(NPHP4):c.1843C>T (p.Gln615Ter)

SNV
Germline

Chr1:5905404

Pathogenic/Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005026665 RCV005112783

NM_015102.5(NPHP4):c.1764-2A>G

SNV
Germline

Chr1:5905485

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005026671

NM_015102.5(NPHP4):c.3394C>T (p.Gln1132Ter)

SNV
Germline

Chr1:5867818

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005024370

NM_015102.5(NPHP4):c.453-2A>G

SNV
Germline

Chr1:5967365

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005026890

NM_015102.5(NPHP4):c.111G>A (p.Trp37Ter)

SNV
Germline

Chr1:5986179

Pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005028906 RCV005112793

NM_015102.5(NPHP4):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr1:5986235

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005032538

NM_025132.4(WDR19):c.98+1G>A

SNV
Germline

Chr4:39185818

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005027331

NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)

SNV
Germline

Chr4:39189677

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005027337

NM_025132.4(WDR19):c.291-2A>G

SNV
Germline

Chr4:39194542

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005027339

NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)

SNV
Germline

Chr4:39194608

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005027340

NM_025132.4(WDR19):c.406+1G>T

SNV
Germline

Chr4:39194660

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005027342

NM_025132.4(WDR19):c.523-1G>C

SNV
Germline

Chr4:39203641

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005027345

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

SNV
Germline

Chr4:39205562

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005027349

NM_025132.4(WDR19):c.1134+1G>A

SNV
Germline

Chr4:39216014

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039079

NM_025132.4(WDR19):c.1135-2A>G

SNV
Germline

Chr4:39216094

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039080

NM_025132.4(WDR19):c.2730-1G>A

SNV
Germline

Chr4:39253145

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039114

NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)

SNV
Germline

Chr4:39253261

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039117

NM_025132.4(WDR19):c.3436G>T (p.Glu1146Ter)

SNV
Germline

Chr4:39270053

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005039128

NM_001023570.4(IQCB1):c.1345G>T (p.Glu449Ter)

SNV
Germline

Chr3:121781808

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005034915

NM_001023570.4(IQCB1):c.588-1G>A

SNV
Germline

Chr3:121799375

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005031073

NM_025132.4(WDR19):c.853C>T (p.Gln285Ter)

SNV
Germline

Chr4:39205699

Pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV005223477

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

SNV
Germline

Chr1:243316894

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005223515

NM_025132.4(WDR19):c.685C>T (p.Gln229Ter)

SNV
Germline

Chr4:39205235

Pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV005215311

NM_006642.5(SDCCAG8):c.676-2A>G

SNV
Germline

Chr1:243304711

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005215347

NM_025132.4(WDR19):c.2729+1G>A

SNV
Germline

Chr4:39245453

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV005224336

NM_025132.4(WDR19):c.2729+1G>T

SNV
Germline

Chr4:39245453

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV005216454

NM_025132.4(WDR19):c.2421+1G>T

SNV
Germline

Chr4:39240335

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

1 SubmittersRCV005228250

NM_025132.4(WDR19):c.290+1G>T

SNV
Germline

Chr4:39189782

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005356941

NM_001023570.4(IQCB1):c.859C>T (p.Gln287Ter)

SNV
Germline

Chr3:121797135

Likely pathogenic

Senior-Loken syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005398123