Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)	SNV Germline	Chr5:178986393	Pathogenic	Congenital stationary night blindness 1B Condition: not provided Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA117799	rs_62638214	8 SubmittersRCV000006197 RCV000086036 RCV001074243 RCV000787608
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)	SNV Germline	Chr5:178986132	Pathogenic	Congenital stationary night blindness 1B Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA117802	rs_62638624	4 SubmittersRCV000006199 RCV000086044 RCV004814843
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)	SNV Germline	Chr5:178994497	Likely pathogenic	Congenital stationary night blindness 1B Condition: not provided	Criteria Provided Single Submitter	CA117804	rs_62638202	3 SubmittersRCV000006200 RCV000086056
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)	SNV Germline	Chr5:178994808	Likely pathogenic	Congenital stationary night blindness 1B Condition: not provided Congenital stationary night blindness	Criteria Provided Multiple Submitters No Conflicts	CA117805	rs_62638197	5 SubmittersRCV000006201 RCV000086025 RCV000504939
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)	SNV Germline	Chr5:178989075	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA117807	rs_121434304	5 SubmittersRCV000006204 RCV000439410
NM_001252024.2(TRPM1):c.2087+2T>C	SNV Germline	Chr15:31041949	Pathogenic	Congenital stationary night blindness 1C	No Assertion Criteria Provided	CA7452337	rs_766862238	1 SubmittersRCV000006601
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)	SNV Germline	Chr15:31028454	Pathogenic	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Single Submitter	CA118065	rs_267607140	2 SubmittersRCV000006603 RCV003555943
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter)	SNV Germline	Chr15:31070213	Pathogenic	Congenital stationary night blindness 1C	No Assertion Criteria Provided	CA118067	rs_267607141	1 SubmittersRCV000006604
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)	SNV Germline	Chr15:31068010	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA118069	rs_191205969	5 SubmittersRCV000006605 RCV000429578 RCV001074901
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	SNV Germline	Chr12:55724028	Pathogenic/Likely pathogenic	Fundus albipunctatus, autosomal recessive Condition: not provided Pigmentary retinal dystrophy See cases Congenital stationary night blindness RDH5-related disorder Retinal dystrophy Retinitis punctata albescens	Criteria Provided Multiple Submitters No Conflicts	CA119196	rs_62638191	16 SubmittersRCV000008467 RCV000597673 RCV000988861 RCV002251890 RCV003324486 RCV003390658 RCV004814863 RCV005357098
NM_002905.5(RDH5):c.839G>A (p.Arg280His)	SNV Germline	Chr12:55724427	Pathogenic/Likely pathogenic	Fundus albipunctatus, autosomal recessive Condition: not provided Pigmentary retinal dystrophy Congenital stationary night blindness	Criteria Provided Multiple Submitters No Conflicts	CA119200	rs_62638193	6 SubmittersRCV000008469 RCV000592822 RCV000779108 RCV003324487
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)	SNV Germline	ChrX:41474502	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA227934	rs_62637037	4 SubmittersRCV000012174 RCV000086260 RCV002247327
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)	SNV Germline	ChrX:41473558	Pathogenic	Condition: not provided Congenital stationary night blindness 1A	No Assertion Criteria Provided	CA227936	rs_62637021	2 SubmittersRCV000086261 RCV000012175
NM_001378477.3(NYX):c.266G>C (p.Arg89Pro)	SNV Germline	ChrX:41473734	Pathogenic	Congenital stationary night blindness 1A	No Assertion Criteria Provided	CA255878	rs_104894910	1 SubmittersRCV000012177
NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)	SNV Germline	ChrX:41473755	Pathogenic	Congenital stationary night blindness 1A	No Assertion Criteria Provided	CA255880	rs_104894911	1 SubmittersRCV000012178
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp)	SNV Germline	ChrX:49228048	Pathogenic	Congenital stationary night blindness 2A	No Assertion Criteria Provided	CA255937	rs_122456133	1 SubmittersRCV000012380
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)	SNV Germline	ChrX:49218511	Pathogenic	Congenital stationary night blindness 2A Congenital stationary night blindness Condition: not provided Retinal dystrophy CACNA1F-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA255938	rs_122456134	7 SubmittersRCV000012381 RCV000504913 RCV001388118 RCV001073304 RCV004730844
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)	SNV Germline	ChrX:49219344	Pathogenic	Congenital stationary night blindness 2A Congenital stationary night blindness Condition: not provided	Criteria Provided Single Submitter	CA255942	rs_122456135	5 SubmittersRCV000012383 RCV001002915 RCV001699019
NM_001256789.3(CACNA1F):c.2234T>C (p.Ile745Thr)	SNV Germline	ChrX:49222576	Pathogenic	Congenital stationary night blindness, type 2A, severe Condition: not provided	Criteria Provided Single Submitter	CA121617	rs_122456136	2 SubmittersRCV000012385 RCV002512984
NM_000539.3(RHO):c.68C>A (p.Pro23His)	SNV Germline	Chr3:129528801	Pathogenic	Retinitis pigmentosa 4 Condition: not provided Pigmentary retinal dystrophy Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa 4 Retinal dystrophy RHO-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256661	rs_104893768	8 SubmittersRCV000013887 RCV000490234 RCV000763095 RCV001075876 RCV004755731
NM_000539.3(RHO):c.875C>A (p.Ala292Glu)	SNV Germline	Chr3:129532711	Pathogenic	Congenital stationary night blindness autosomal dominant 1	No Assertion Criteria Provided	CA122822	rs_104893789	1 SubmittersRCV000013919
NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	SNV Germline	Chr3:129529002	Pathogenic	Congenital stationary night blindness autosomal dominant 1 Pigmentary retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122823	rs_104893790	5 SubmittersRCV000013920 RCV001195814 RCV001268622 RCV004814895
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	SNV Germline	Chr3:129529014	Likely pathogenic	Congenital stationary night blindness autosomal dominant 1	Criteria Provided Single Submitter	CA122825	rs_104893796	2 SubmittersRCV000013929
NM_000283.4(PDE6B):c.772C>A (p.His258Asn)	SNV Germline	Chr4:653912	Pathogenic	Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Single Submitter	CA122842	rs_121918582	2 SubmittersRCV000013986 RCV005089246
NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)	SNV Germline	Chr3:50193139	Pathogenic	Congenital stationary night blindness autosomal dominant 3	No Assertion Criteria Provided	CA126053	rs_104893740	1 SubmittersRCV000017277
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)	SNV Germline	Chr15:31042102	Likely pathogenic	Congenital stationary night blindness 1C	Criteria Provided Single Submitter	CA129158	rs_387906862	2 SubmittersRCV000023310
NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter)	SNV Germline	Chr15:31032930	Pathogenic	Congenital stationary night blindness 1C	No Assertion Criteria Provided	CA213022	rs_786205113	1 SubmittersRCV000023311
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)	SNV Germline	Chr17:38334016	Pathogenic	Congenital stationary night blindness 1E Condition: not provided	No Assertion Criteria Provided	CA129743	rs_281875234	2 SubmittersRCV000024199 RCV000059653
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)	SNV Germline	Chr17:38343192	Pathogenic	Congenital stationary night blindness 1E	No Assertion Criteria Provided	CA129748	rs_387907138	1 SubmittersRCV000024201
NM_001004334.4(GPR179):c.1784+1G>A	SNV Germline	Chr17:38334703	Pathogenic	Congenital stationary night blindness 1E	No Assertion Criteria Provided	CA129751	rs_773126191	1 SubmittersRCV000024202
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)	SNV Germline	Chr17:38343131	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA129757	rs_281875236	4 SubmittersRCV000024205 RCV000059655
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)	SNV Germline	Chr4:109869900	Pathogenic	Congenital stationary night blindness 1F	No Assertion Criteria Provided	CA130294	rs_397509379	1 SubmittersRCV000032635
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)	SNV Germline	Chr4:625939	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA220605	rs_398123299	6 SubmittersRCV000078554 RCV000778735 RCV001074335 RCV001151258 RCV005252736
NM_000283.4(PDE6B):c.615C>T (p.Asp205=)	SNV Germline	Chr4:634823	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA145991	rs_149293844	7 SubmittersRCV000078555 RCV000282490 RCV000335369 RCV000962986
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)	SNV Germline	Chr4:635913	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2	Criteria Provided Conflicting Classifications	CA145993	rs_62295357	7 SubmittersRCV000078556 RCV000488132 RCV000987384 RCV001151689
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)	SNV Germline	Chr15:31067145	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C Retinitis pigmentosa TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA221943	rs_138886378	7 SubmittersRCV000080008 RCV000763957 RCV000787888 RCV003935039
NM_000283.4(PDE6B):c.711+10C>T	SNV Germline	Chr4:635979	Conflicting classifications of pathogenicity	not specified Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA292713	rs_201100689	4 SubmittersRCV000127389 RCV000313689 RCV000395859 RCV000971875
NM_000283.4(PDE6B):c.1401+4C>T	SNV Germline	Chr4:657498	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA180277	rs_113246945	6 SubmittersRCV000153665 RCV001156613 RCV001151135 RCV001515674 RCV004815230
NM_000283.4(PDE6B):c.2193+1G>A	SNV Germline	Chr4:664945	Pathogenic	Retinitis pigmentosa 40 Retinitis pigmentosa Retinal dystrophy Condition: not provided Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 PDE6B-related disorder Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA273358	rs_727504075	16 SubmittersRCV000153667 RCV000216602 RCV001073971 RCV000723948 RCV002498731 RCV003387510 RCV005888435
NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)	SNV Germline	Chr3:50194111	Pathogenic	Congenital stationary night blindness autosomal dominant 3	No Assertion Criteria Provided	CA199760	rs_786205853	1 SubmittersRCV000171140
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)	SNV Germline	Chr3:50193600	Pathogenic	Congenital stationary night blindness 1G	No Assertion Criteria Provided	CA250324	rs_786205854	1 SubmittersRCV000171141
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)	SNV Germline	Chr4:625758	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA200297	rs_199974771	3 SubmittersRCV000173098 RCV000337389 RCV000398223 RCV001518969
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)	SNV Germline	Chr17:38331159	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1E GPR179-related disorder	Criteria Provided Conflicting Classifications	CA239493	rs_201086495	5 SubmittersRCV000174026 RCV001126138 RCV003947469
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)	SNV Germline	Chr4:109851766	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1F LRIT3-related disorder Optic atrophy	Criteria Provided Conflicting Classifications	CA241863	rs_148810231	6 SubmittersRCV000176006 RCV000284226 RCV003977435 RCV004816275
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)	SNV Germline	Chr4:666606	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA241888	rs_145124626	3 SubmittersRCV000176031 RCV000259243 RCV000314427
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val)	SNV Germline	Chr15:31035593	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Conflicting Classifications	CA241929	rs_201650867	3 SubmittersRCV000176062 RCV001119987
NM_001252024.2(TRPM1):c.2701-10T>A	SNV Germline	Chr15:31032950	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA242066	rs_201747375	4 SubmittersRCV000176189 RCV001119986 RCV004752775
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met)	SNV Germline	Chr15:31002201	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C Retinal dystrophy	Criteria Provided Conflicting Classifications	CA242766	rs_201617759	4 SubmittersRCV000176732 RCV000399652 RCV004816281
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)	SNV Germline	Chr17:38337665	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1E GPR179-related disorder	Criteria Provided Conflicting Classifications	CA243201	rs_189931659	7 SubmittersRCV000177095 RCV000765348 RCV003977447
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)	SNV Germline	Chr4:653934	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA245084	rs_144562730	8 SubmittersRCV000178068 RCV000288799 RCV000346036
NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln)	SNV Germline	Chr17:38336985	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1E Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245160	rs_568763662	4 SubmittersRCV000178134 RCV000364314 RCV002516766
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)	SNV Germline	Chr4:654132	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa not specified	Criteria Provided Conflicting Classifications	CA245910	rs_146646008	5 SubmittersRCV000178746 RCV000276359 RCV000331462 RCV001699056
NM_001252024.2(TRPM1):c.507C>T (p.His169=)	SNV Germline	Chr15:31067174	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Conflicting Classifications	CA246055	rs_201157794	3 SubmittersRCV000178864 RCV001120191
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)	SNV Germline	Chr15:65650927	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1D not specified	Criteria Provided Conflicting Classifications	CA247206	rs_117685425	5 SubmittersRCV000179895 RCV000272081 RCV001699144
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)	SNV Germline	Chr15:65650726	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1D	Criteria Provided Conflicting Classifications	CA247208	rs_371059164	3 SubmittersRCV000179896 RCV000360829
NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro)	SNV Germline	Chr15:31066093	Likely pathogenic	Congenital stationary night blindness 1C	No Assertion Criteria Provided	CA353596	rs_869312176	1 SubmittersRCV000210285
NM_000843.4(GRM6):c.1537G>A (p.Val513Met)	SNV Germline	Chr5:178986717	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1B Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3594005	rs_201396068	3 SubmittersRCV000490371 RCV001073808 RCV001414928
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)	SNV Germline	Chr15:31060544	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Congenital stationary night blindness Night blindness	Criteria Provided Conflicting Classifications	CA7452635	rs_768701595	5 SubmittersRCV000490382 RCV001003232 RCV004798815
NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter)	SNV Germline	Chr12:6846892	Pathogenic	Congenital stationary night blindness 1H	No Assertion Criteria Provided	CA10584040	rs_879253773	1 SubmittersRCV000234969
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)	SNV Germline	ChrX:49224768	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital stationary night blindness 2A Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10410781	rs_141010716	9 SubmittersRCV000242863 RCV000726719 RCV000990822 RCV004816456
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	SNV Germline	ChrX:49224798	Pathogenic	Condition: not provided Aland island eye disease Congenital stationary night blindness 2A X-linked cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA10588791	rs_886039559	7 SubmittersRCV000254855 RCV000787553 RCV001197452 RCV001542625
NM_001256789.3(CACNA1F):c.148C>T (p.Arg50Ter)	SNV Germline	ChrX:49231805	Pathogenic	Condition: not provided Congenital stationary night blindness 2A X-linked cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA10588792	rs_886039560	4 SubmittersRCV000255201 RCV003989512 RCV005869192
NM_001256789.3(CACNA1F):c.2543+1G>A	SNV Germline	ChrX:49219633	Pathogenic	Condition: not provided Aland island eye disease Congenital stationary night blindness 2A X-linked cone-rod dystrophy 3 CACNA1F-related disorder X-linked CACNA1F-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA10605098	rs_886044841	6 SubmittersRCV000360556 RCV002502130 RCV003417898 RCV006555776
NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg)	SNV Germline	Chr15:65650913	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital stationary night blindness 1D	Criteria Provided Conflicting Classifications	CA7620194	rs_146253044	4 SubmittersRCV000407299 RCV000897401 RCV001117117
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)	SNV Germline	Chr4:664903	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA2794912	rs_150639487	7 SubmittersRCV000277605 RCV000297097 RCV000332675 RCV002286728
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)	SNV Germline	Chr15:65625939	Conflicting classifications of pathogenicity	not specified Congenital stationary night blindness 1D Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7619980	rs_35398714	7 SubmittersRCV000265032 RCV000381983 RCV001516510 RCV006362210
NM_000283.4(PDE6B):c.2504-1G>C	SNV Germline	Chr4:670045	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA2795101	rs_201870319	4 SubmittersRCV000290796 RCV001154419 RCV001154420 RCV005895857
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)	SNV Germline	Chr15:31031040	Conflicting classifications of pathogenicity	Congenital stationary night blindness Condition: not provided	Criteria Provided Conflicting Classifications	CA7451999	rs_369484186	4 SubmittersRCV000505065 RCV000726426
NM_000539.3(RHO):c.48G>A (p.Ala16=)	SNV Germline	Chr3:129528781	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2607044	rs_766112074	2 SubmittersRCV000323919 RCV000371594 RCV003765982
NM_000539.3(RHO):c.480C>A (p.Thr160=)	SNV Germline	Chr3:129530994	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2607168	rs_151063543	6 SubmittersRCV000309251 RCV000389975 RCV000732353 RCV001700071
NM_000539.3(RHO):c.696+12G>A	SNV Germline	Chr3:129532428	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2607252	rs_55915536	2 SubmittersRCV000329636 RCV000386443 RCV001456280
NM_000539.3(RHO):c.959C>A (p.Thr320Asn)	SNV Germline	Chr3:129533630	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa Condition: not provided RHO-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2607346	rs_138831590	5 SubmittersRCV000295474 RCV000380819 RCV001322065 RCV003401364 RCV004816589
NM_198506.5(LRIT3):c.966C>T (p.Asp322=)	SNV Germline	Chr4:109869715	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided	Criteria Provided Conflicting Classifications	CA3043106	rs_141753583	2 SubmittersRCV000314463 RCV006462498
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln)	SNV Germline	Chr4:654153	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2794178	rs_145756948	3 SubmittersRCV000327738 RCV000382287 RCV001244128 RCV004955455
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=)	SNV Germline	Chr4:656268	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2794333	rs_142802752	4 SubmittersRCV000314507 RCV000404989 RCV000906390
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)	SNV Germline	Chr4:657390	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2794445	rs_539768252	3 SubmittersRCV000267066 RCV000361712 RCV001861237 RCV003243107
NM_000283.4(PDE6B):c.1590C>T (p.Val530=)	SNV Germline	Chr4:660589	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2794583	rs_202244041	3 SubmittersRCV000352811 RCV000388750 RCV002057943 RCV003888832
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)	SNV Germline	Chr4:625759	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA2793852	rs_138423108	3 SubmittersRCV000298325 RCV000341531 RCV003888829 RCV001320505
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp)	SNV Germline	Chr4:625830	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Congenital stationary night blindness autosomal dominant 2	Criteria Provided Conflicting Classifications	CA2793868	rs_200079698	3 SubmittersRCV000269946 RCV001211414 RCV000334160
NM_000283.4(PDE6B):c.270C>T (p.Asp90=)	SNV Germline	Chr4:625896	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2793894	rs_80344633	5 SubmittersRCV000318799 RCV000375998 RCV000899653 RCV001699384
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)	SNV Germline	Chr4:634704	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2793981	rs_115775983	7 SubmittersRCV000350373 RCV000406027 RCV000958533 RCV003888830
NM_000283.4(PDE6B):c.789G>A (p.Thr263=)	SNV Germline	Chr4:653929	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794119	rs_138789637	2 SubmittersRCV000342401 RCV000393014 RCV001451842
NM_000283.4(PDE6B):c.966C>T (p.His322=)	SNV Germline	Chr4:654862	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794238	rs_143711050	2 SubmittersRCV000284445 RCV000378655 RCV000912271
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)	SNV Germline	Chr4:655973	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA10619046	rs_754298712	2 SubmittersRCV000339413 RCV000407941 RCV002057942
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=)	SNV Germline	Chr4:656984	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794390	rs_148190219	3 SubmittersRCV000311133 RCV000365845 RCV000891594
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=)	SNV Germline	Chr4:657389	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794443	rs_114100439	3 SubmittersRCV000270690 RCV000325718 RCV000961040
NM_000283.4(PDE6B):c.1401+5G>A	SNV Germline	Chr4:657499	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2794473	rs_201623488	3 SubmittersRCV000322074 RCV000376740 RCV000909197
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=)	SNV Germline	Chr4:662154	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794626	rs_141813304	2 SubmittersRCV000309626 RCV000391217 RCV000966175
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr)	SNV Germline	Chr4:664190	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2794844	rs_149880099	3 SubmittersRCV000262459 RCV000356608 RCV001067889 RCV003888834
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)	SNV Germline	Chr4:670090	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided Inborn genetic diseases PDE6B-related disorder	Criteria Provided Conflicting Classifications	CA2795114	rs_141647790	6 SubmittersRCV000283346 RCV000338358 RCV000591409 RCV004021968 RCV004545766
NM_000283.4(PDE6B):c.*79A>G	SNV Germline	Chr4:670186	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2	Criteria Provided Conflicting Classifications	CA2795129	rs_753277194	1 SubmittersRCV000310856 RCV000404576
NM_144499.3(GNAT1):c.241G>A (p.Val81Ile)	SNV Germline	Chr3:50193356	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2412489	rs_201849628	3 SubmittersRCV000361876 RCV001498016 RCV002520163
NM_144499.3(GNAT1):c.882C>T (p.Asp294=)	SNV Germline	Chr3:50194784	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 3 Condition: not provided GNAT1-related disorder	Criteria Provided Conflicting Classifications	CA2412758	rs_775329814	3 SubmittersRCV000325576 RCV002057889 RCV003969997
NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln)	SNV Germline	Chr3:50191808	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA2412433	rs_149936603	3 SubmittersRCV000259457 RCV001437241
NM_198506.5(LRIT3):c.30C>A (p.Val10=)	SNV Germline	Chr4:109848231	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided LRIT3-related disorder	Criteria Provided Conflicting Classifications	CA3042960	rs_373793629	3 SubmittersRCV000285500 RCV001514599 RCV003950223
NM_198506.5(LRIT3):c.1029G>T (p.Val343=)	SNV Germline	Chr4:109869778	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided	Criteria Provided Conflicting Classifications	CA3043118	rs_199943498	3 SubmittersRCV000274932 RCV001431994
NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala)	SNV Germline	Chr4:109870194	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided Inborn genetic diseases LRIT3-related disorder	Criteria Provided Conflicting Classifications	CA3043187	rs_75722024	4 SubmittersRCV000290383 RCV000885582 RCV003258786 RCV003932410
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)	SNV Germline	Chr4:625796	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2793860	rs_149359860	2 SubmittersRCV000309731 RCV000362223 RCV001861233
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)	SNV Germline	Chr4:634690	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided High myopia	Criteria Provided Conflicting Classifications	CA2793978	rs_574098823	3 SubmittersRCV000332008 RCV000288636 RCV001436063 RCV000785739
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)	SNV Germline	Chr4:635940	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794053	rs_201584824	2 SubmittersRCV000282880 RCV000379626 RCV001340998
NM_000283.4(PDE6B):c.699G>A (p.Thr233=)	SNV Germline	Chr4:635957	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2794056	rs_148264146	3 SubmittersRCV000310055 RCV000343932 RCV000895940 RCV003888831
NM_000283.4(PDE6B):c.1108-9C>T	SNV Germline	Chr4:656865	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2794363	rs_200970775	2 SubmittersRCV000369296 RCV000404686 RCV000884408
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln)	SNV Germline	Chr4:660591	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2794585	rs_144664551	3 SubmittersRCV000349329 RCV000294425 RCV001240311 RCV003168538
NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp)	SNV Germline	Chr4:663794	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Inborn genetic diseases Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA2794787	rs_768939011	4 SubmittersRCV000344856 RCV000402966 RCV002523475 RCV003888833 RCV005055918
NM_000283.4(PDE6B):c.2269-11C>T	SNV Germline	Chr4:666520	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794987	rs_370169775	2 SubmittersRCV000383643 RCV000347789 RCV002057944
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro)	SNV Germline	Chr4:666555	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2794998	rs_199521106	3 SubmittersRCV000303010 RCV000392694 RCV000931351 RCV003888835
NM_000283.4(PDE6B):c.2352+3G>A	SNV Germline	Chr4:666617	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2795017	rs_111504036	2 SubmittersRCV000274619 RCV000369235 RCV001044545
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)	SNV Germline	Chr4:653879	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Retinitis pigmentosa 40 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2794105	rs_780521818	6 SubmittersRCV000377308 RCV000504695 RCV001376332 RCV001543444 RCV004816597
NM_000283.4(PDE6B):c.852+12G>A	SNV Germline	Chr4:654004	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA2794146	rs_201676629	2 SubmittersRCV000311171 RCV001513143 RCV000405497
NM_000283.4(PDE6B):c.1060-13G>A	SNV Germline	Chr4:656232	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794329	rs_147482093	4 SubmittersRCV000335547 RCV000280451 RCV001518693
NM_000283.4(PDE6B):c.2352+13C>T	SNV Germline	Chr4:666627	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2795018	rs_374527841	2 SubmittersRCV000384343 RCV000329764 RCV002057945
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=)	SNV Germline	Chr4:670068	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2795106	rs_61733857	3 SubmittersRCV000323274 RCV000378001 RCV001520398
NM_000283.3(PDE6B):c.*764G>A	SNV Germline	Chr4:670871	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2	Criteria Provided Conflicting Classifications	CA10621527	rs_575639886	1 SubmittersRCV000259755 RCV000317306
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=)	SNV Germline	Chr15:31026144	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided TRPM1-related disorder not specified	Criteria Provided Conflicting Classifications	CA7451825	rs_370122578	4 SubmittersRCV000345455 RCV001458374 RCV003940226 RCV005434817
NM_001252024.2(TRPM1):c.2778C>T (p.Leu926=)	SNV Germline	Chr15:31032863	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452071	rs_761531039	2 SubmittersRCV000393444 RCV002056448
NM_001252024.2(TRPM1):c.1905C>T (p.His635=)	SNV Germline	Chr15:31042133	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452366	rs_377099385	2 SubmittersRCV000328620 RCV001439942
NM_001252024.2(TRPM1):c.75C>T (p.Asp25=)	SNV Germline	Chr15:31076913	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7453125	rs_777321357	2 SubmittersRCV000293039 RCV002520946
NM_001004334.4(GPR179):c.6475A>G (p.Lys2159Glu)	SNV Germline	Chr17:38327094	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10639544	rs_181844178	2 SubmittersRCV000360750 RCV002056578
NM_001004334.4(GPR179):c.6335C>T (p.Ala2112Val)	SNV Germline	Chr17:38327234	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10639545	rs_542057732	3 SubmittersRCV000320359 RCV001519518 RCV004619259
NM_001004334.4(GPR179):c.991+4T>C	SNV Germline	Chr17:38337629	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided GPR179-related disorder	Criteria Provided Conflicting Classifications	CA10639555	rs_375898051	3 SubmittersRCV000358219 RCV002056588 RCV003922368
NM_001004334.4(GPR179):c.691C>T (p.Pro231Ser)	SNV Germline	Chr17:38343099	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10639556	rs_200731095	2 SubmittersRCV000386648 RCV001522219
NM_001004334.4(GPR179):c.663G>T (p.Val221=)	SNV Germline	Chr17:38343127	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10639557	rs_547308706	2 SubmittersRCV000289986 RCV002522952
NM_001252024.2(TRPM1):c.2088-8C>T	SNV Germline	Chr15:31040354	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452316	rs_762208610	2 SubmittersRCV000268854 RCV001492753
NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=)	SNV Germline	Chr15:31049492	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452558	rs_755094572	2 SubmittersRCV000301094 RCV002520945
NM_001252024.2(TRPM1):c.494-8G>A	SNV Germline	Chr15:31067195	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452927	rs_757371423	2 SubmittersRCV000328344 RCV001360535
NM_001252024.2(TRPM1):c.493+13C>T	SNV Germline	Chr15:31067866	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452940	rs_372144508	2 SubmittersRCV000376125 RCV002056449
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)	SNV Germline	Chr17:38327587	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10645544	rs_185715311	4 SubmittersRCV000316820 RCV000733442 RCV004816566
NM_001004334.4(GPR179):c.5350C>A (p.Pro1784Thr)	SNV Germline	Chr17:38328219	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10645551	rs_117255299	2 SubmittersRCV000398607 RCV002056579
NM_001004334.4(GPR179):c.4888G>A (p.Glu1630Lys)	SNV Germline	Chr17:38328681	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided GPR179-related disorder	Criteria Provided Conflicting Classifications	CA10645560	rs_149998444	3 SubmittersRCV000304495 RCV002056580 RCV003910228
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)	SNV Germline	Chr17:38329263	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10645561	rs_147966258	6 SubmittersRCV000301115 RCV000523161 RCV001729534
NM_001004334.4(GPR179):c.3518G>C (p.Ser1173Thr)	SNV Germline	Chr17:38330051	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10645567	rs_565610587	3 SubmittersRCV000390385 RCV002061223 RCV002522948
NM_001004334.4(GPR179):c.2248T>A (p.Ser750Thr)	SNV Germline	Chr17:38331321	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10645573	rs_772088402	2 SubmittersRCV000320453 RCV002056586
NM_001004334.4(GPR179):c.1784+8C>T	SNV Germline	Chr17:38334696	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10645577	rs_137860025	2 SubmittersRCV000279321 RCV002056587
NM_001252024.2(TRPM1):c.3252C>T (p.Val1084=)	SNV Germline	Chr15:31028373	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7451940	rs_773508261	3 SubmittersRCV000291658 RCV000934681
NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=)	SNV Germline	Chr15:31047910	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452513	rs_368601558	2 SubmittersRCV000285916 RCV000905554
NM_001252024.2(TRPM1):c.942G>A (p.Ala314=)	SNV Germline	Chr15:31063141	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452763	rs_768420045	2 SubmittersRCV000308547 RCV001468225
NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=)	SNV Germline	Chr15:65650498	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA10646471	rs_886051351	2 SubmittersRCV000396850 RCV001406907
NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=)	SNV Germline	Chr15:65652779	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7620297	rs_201199381	2 SubmittersRCV000270986 RCV002056471
NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=)	SNV Germline	Chr15:31002392	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7451669	rs_138216783	3 SubmittersRCV000354214 RCV000914171
NM_001252024.2(TRPM1):c.2268C>T (p.Thr756=)	SNV Germline	Chr15:31040166	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452279	rs_756489745	2 SubmittersRCV000332003 RCV001424938
NM_001252024.2(TRPM1):c.378T>C (p.His126=)	SNV Germline	Chr15:31067994	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452962	rs_769783908	2 SubmittersRCV000267503 RCV002056450
NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln)	SNV Germline	Chr15:65624214	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10647276	rs_886051348	2 SubmittersRCV000312575 RCV002520969
NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=)	SNV Germline	Chr15:65625898	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7619975	rs_368241269	2 SubmittersRCV000291320 RCV001464599
NM_004727.3(SLC24A1):c.1945-14C>G	SNV Germline	Chr15:65639581	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7620043	rs_761704353	2 SubmittersRCV000351961 RCV002056469
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)	SNV Germline	Chr15:65645654	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D not specified Condition: not provided Inborn genetic diseases SLC24A1-related disorder	Criteria Provided Conflicting Classifications	CA7620113	rs_201943537	7 SubmittersRCV000336812 RCV000732305 RCV001522730 RCV002520971 RCV003940236
NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=)	SNV Germline	Chr15:65650900	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided SLC24A1-related disorder	Criteria Provided Conflicting Classifications	CA7620191	rs_368057501	3 SubmittersRCV000359691 RCV002056470 RCV003940237
NM_001004334.4(GPR179):c.7035C>T (p.Gly2345=)	SNV Germline	Chr17:38326534	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10649149	rs_368426715	2 SubmittersRCV000393492 RCV002056575
NM_001004334.4(GPR179):c.6621C>T (p.Ser2207=)	SNV Germline	Chr17:38326948	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10649151	rs_781391422	2 SubmittersRCV000306010 RCV005055880
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met)	SNV Germline	Chr17:38328860	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10649156	rs_187512697	4 SubmittersRCV000264724 RCV000732414 RCV001520258 RCV006362272
NM_001004334.4(GPR179):c.3357G>A (p.Ala1119=)	SNV Germline	Chr17:38330212	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10649158	rs_547577586	2 SubmittersRCV000298512 RCV002056584
NM_001004334.4(GPR179):c.2556C>T (p.Leu852=)	SNV Germline	Chr17:38331013	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10649168	rs_777488974	2 SubmittersRCV000325746 RCV001448662
NM_001004334.4(GPR179):c.180C>T (p.Leu60=)	SNV Germline	Chr17:38343610	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10649175	rs_770286670	2 SubmittersRCV000359189 RCV002056591
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)	SNV Germline	Chr17:38327594	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided Retinitis pigmentosa not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10650013	rs_200936863	9 SubmittersRCV000625275 RCV000730168 RCV000787911 RCV001706517 RCV004816567
NM_001004334.4(GPR179):c.3900A>T (p.Ile1300=)	SNV Germline	Chr17:38329669	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided GPR179-related disorder	Criteria Provided Conflicting Classifications	CA10650017	rs_200167781	3 SubmittersRCV000333372 RCV002056581 RCV003940270
NM_001004334.4(GPR179):c.2895G>A (p.Leu965=)	SNV Germline	Chr17:38330674	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10650030	rs_200583958	2 SubmittersRCV000274012 RCV002056585
NM_001004334.4(GPR179):c.1723C>T (p.Arg575Cys)	SNV Germline	Chr17:38334765	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10650039	rs_200801090	2 SubmittersRCV000352780 RCV001519733
NM_001004334.4(GPR179):c.1417C>T (p.Leu473=)	SNV Germline	Chr17:38335261	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided GPR179-related disorder	Criteria Provided Conflicting Classifications	CA10650041	rs_762389933	3 SubmittersRCV000401589 RCV002522950 RCV003922367
NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg)	SNV Germline	Chr17:38337651	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10650044	rs_200392643	5 SubmittersRCV000375619 RCV001795942 RCV002522951
NM_001004334.4(GPR179):c.522C>T (p.Ile174=)	SNV Germline	Chr17:38343268	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA10650051	rs_377062748	2 SubmittersRCV000402255 RCV002056590
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)	SNV Unknown	ChrX:49230343	Pathogenic	Amblyopia Myopia Congenital stationary night blindness 2A	Criteria Provided Single Submitter	CA16043594	rs_1057518829	1 SubmittersRCV000415143 RCV001199353
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)	SNV Germline	Chr4:660579	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2794577	rs_760766981	9 SubmittersRCV000427120 RCV000504854 RCV000845026 RCV001154208 RCV004816655
NM_000539.3(RHO):c.491C>T (p.Ala164Val)	SNV Germline	Chr3:129531005	Pathogenic/Likely pathogenic	Congenital stationary night blindness autosomal dominant 1 Cone-rod dystrophy Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 4 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16616904	rs_104893793	6 SubmittersRCV000477900 RCV000787681 RCV000787680 RCV001229601 RCV001265187 RCV003889904
NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)	SNV Unknown	Chr1:94001914	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA341278240	rs_1553186509	1 SubmittersRCV000504998
NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)	SNV Germline	Chr1:94042830	Pathogenic	Congenital stationary night blindness Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341292154	rs_61751398	2 SubmittersRCV000505122 RCV005407661
NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu)	SNV Unknown	Chr15:31028451	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA391544081	rs_748046539	1 SubmittersRCV000504895
NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr)	SNV Unknown	Chr15:31028470	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA391544183	rs_1555418784	1 SubmittersRCV000504632
NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg)	SNV Unknown	Chr15:31063251	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA391529407	rs_1555424166	1 SubmittersRCV000505098
NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu)	SNV Unknown	Chr15:31067992	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA391534736	rs_1555424849	1 SubmittersRCV000504718
NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)	SNV Unknown	ChrX:49210636	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA412961013	rs_1557106008	1 SubmittersRCV000504818
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)	SNV Unknown	ChrX:49216438	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA412963971	rs_1557107417	1 SubmittersRCV000505176
NM_001256789.3(CACNA1F):c.2733+1G>A	SNV Unknown	ChrX:49218881	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA412965008	rs_1557108147	1 SubmittersRCV000504722
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)	SNV Germline	ChrX:49230253	Pathogenic	Congenital stationary night blindness Condition: not provided	Criteria Provided Single Submitter	CA412924279	rs_1557110988	2 SubmittersRCV000505008 RCV001311072
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter)	SNV Germline	Chr15:31068090	Likely pathogenic	Congenital stationary night blindness 1C	No Assertion Criteria Provided	CA391535458	rs_372529012	1 SubmittersRCV000505592
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)	SNV Germline	Chr3:50194806	Pathogenic/Likely pathogenic	Congenital stationary night blindness 1G Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2412765	rs_374913800	3 SubmittersRCV000578484 RCV001237857
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter)	SNV Germline	Chr15:65650550	Pathogenic	Congenital stationary night blindness 1D	No Assertion Criteria Provided	CA392899198	rs_1410075831	1 SubmittersRCV000579382
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)	SNV Germline	Chr17:38328511	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1E	Criteria Provided Conflicting Classifications	CA290103778	rs_376750375	3 SubmittersRCV000594060 RCV001125926
NM_004727.3(SLC24A1):c.95T>A (p.Leu32Ter)	SNV Germline	Chr15:65624175	Pathogenic	Retinitis pigmentosa Congenital stationary night blindness 1D	Criteria Provided Single Submitter	CA392912392	rs_1566945534	2 SubmittersRCV000678630 RCV005253062
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)	SNV Germline	ChrX:49210604	Pathogenic	Congenital stationary night blindness 2A Cone-rod dystrophy Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA10410201	rs_782581701	3 SubmittersRCV000754588 RCV003324533 RCV004817949
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)	SNV Germline	Chr15:31035551	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness 1C Congenital stationary night blindness	Criteria Provided Multiple Submitters No Conflicts	CA391546645	rs_1485132228	4 SubmittersRCV000729014 RCV000785957 RCV001003230
NM_001378477.3(NYX):c.567C>A (p.Ile189=)	SNV Germline	ChrX:41474035	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1A	Criteria Provided Conflicting Classifications	CA10389837	rs_746383908	4 SubmittersRCV000732111 RCV001168944
NM_001252024.2(TRPM1):c.279+147T>G	SNV Germline	Chr15:31069884	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C	Criteria Provided Conflicting Classifications	CA7453018	rs_150441866	3 SubmittersRCV000761362
NM_001256789.3(CACNA1F):c.2086-2A>G	SNV Germline	ChrX:49222840	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness X-linked cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA412911240	rs_1358925739	3 SubmittersRCV000762638 RCV001199446 RCV005601094
NM_000539.3(RHO):c.1025C>T (p.Thr342Met)	SNV Germline	Chr3:129533696	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness autosomal dominant 1	Criteria Provided Conflicting Classifications	CA2607366	rs_183318466	3 SubmittersRCV001090667 RCV001150104
NM_001252024.2(TRPM1):c.3148+1G>A	SNV Germline	Chr15:31029370	Pathogenic/Likely pathogenic	Congenital stationary night blindness 1C Condition: not provided TRPM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7451970	rs_779821510	3 SubmittersRCV000778427 RCV002536729 RCV003411717
NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)	SNV Germline	Chr13:113733073	Likely pathogenic	Congenital stationary night blindness Oguchi disease-2	No Assertion Criteria Provided	CA388819950	rs_1594580431	2 SubmittersRCV000787607 RCV001175404
NM_000843.4(GRM6):c.2003T>C (p.Leu668Pro)	SNV Germline	Chr5:178986251	Pathogenic	Congenital stationary night blindness Condition: not provided	Criteria Provided Single Submitter	CA3593863	rs_777168556	2 SubmittersRCV000787912 RCV001869197
NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter)	SNV Germline	Chr15:31042072	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Multiple Submitters No Conflicts	CA7452358	rs_763546583	2 SubmittersRCV000799664 RCV003133622
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp)	SNV Germline	Chr4:109867784	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided	Criteria Provided Conflicting Classifications	CA3043054	rs_538101562	3 SubmittersRCV000844916 RCV001398189
NM_001252024.2(TRPM1):c.2514C>T (p.Ile838=)	SNV Germline	Chr15:31037768	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Conflicting Classifications	CA7452175	rs_376705938	2 SubmittersRCV000880300 RCV001120284
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=)	SNV Germline	Chr15:31067081	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7452899	rs_200934141	5 SubmittersRCV000879890 RCV001120189 RCV001701343 RCV004818073
NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=)	SNV Germline	Chr15:65625733	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1D	Criteria Provided Conflicting Classifications	CA7619951	rs_181942192	2 SubmittersRCV000885628 RCV001118670
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)	SNV Germline	Chr4:658964	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 PDE6B-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2794512	rs_143908642	4 SubmittersRCV000895003 RCV001151136 RCV001151137 RCV004530995 RCV004958238
NM_198506.5(LRIT3):c.222G>A (p.Ala74=)	SNV Germline	Chr4:109851609	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1F	Criteria Provided Conflicting Classifications	CA3042978	rs_148450929	2 SubmittersRCV000912894 RCV001149184
NM_198506.5(LRIT3):c.1644G>A (p.Gly548=)	SNV Germline	Chr4:109870393	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1F	Criteria Provided Conflicting Classifications	CA3043233	rs_528069315	2 SubmittersRCV000922187 RCV001144684
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)	SNV Germline	Chr4:662565	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2	Criteria Provided Conflicting Classifications	CA2794678	rs_769147926	2 SubmittersRCV000936533 RCV001155048 RCV001155049
NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val)	SNV Germline	Chr15:31067079	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Conflicting Classifications	CA7452898	rs_761283836	2 SubmittersRCV000939945 RCV001116913
NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)	SNV Germline	ChrX:41474847	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10389948	rs_374968384	3 SubmittersRCV000934197 RCV001166053 RCV002542286
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe)	SNV Germline	ChrX:49206611	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness	Criteria Provided Conflicting Classifications	CA412958029	rs_1602621312	3 SubmittersRCV000999426 RCV001199447
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His)	SNV Germline	Chr15:31031093	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452004	rs_775810789	2 SubmittersRCV001002704 RCV001869433
NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)	SNV Germline	Chr15:31035613	Pathogenic/Likely pathogenic	Congenital stationary night blindness TRPM1-related disorder Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7452120	rs_765645888	4 SubmittersRCV001003231 RCV003413796 RCV005359738 RCV006464956
NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)	SNV Germline	Chr15:31063137	Pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA391527889	rs_1596029830	1 SubmittersRCV001003233
NM_001378477.3(NYX):c.481G>C (p.Ala161Pro)	SNV Germline	ChrX:41473949	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA412990548	rs_1602180478	1 SubmittersRCV001003099
NM_001378477.3(NYX):c.782T>C (p.Leu261Pro)	SNV Germline	ChrX:41474250	Pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA412991245	rs_1602180791	1 SubmittersRCV001003100
NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)	SNV Germline	ChrX:41474471	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA412992096	rs_1602181006	1 SubmittersRCV001003101
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)	SNV Germline	ChrX:49210621	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA412960984	rs_1602627593	1 SubmittersRCV001002910
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)	SNV Germline	ChrX:49211947	Pathogenic	Congenital stationary night blindness Condition: not provided X-linked cone-rod dystrophy 3 Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA10410278	rs_782740998	5 SubmittersRCV001002912 RCV001212865 RCV002286797 RCV004818137
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)	SNV Germline	ChrX:49212688	Pathogenic	Congenital stationary night blindness Congenital stationary night blindness 2A	No Assertion Criteria Provided	CA412962256	rs_1602630650	2 SubmittersRCV001002913 RCV001270458
NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter)	SNV Germline	ChrX:49219707	Pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA412965619	rs_1602641426	1 SubmittersRCV001002916
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)	SNV Germline	ChrX:49222585	Pathogenic	Congenital stationary night blindness Condition: not provided	Criteria Provided Single Submitter	CA412909826	rs_1602644716	2 SubmittersRCV001002917 RCV003558628
NM_001256789.3(CACNA1F):c.4261-9G>A	SNV Germline	ChrX:49211101	Likely pathogenic	Congenital stationary night blindness	No Assertion Criteria Provided	CA915951053	rs_1602628429	1 SubmittersRCV001002911
NM_001256789.3(CACNA1F):c.1118+1G>C	SNV Germline	ChrX:49228035	Pathogenic	Congenital stationary night blindness Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412919558	rs_2065841382	2 SubmittersRCV001199448 RCV001091928
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys)	SNV Germline	Chr15:31049487	Likely pathogenic	Congenital stationary night blindness 1C	No Assertion Criteria Provided	CA391517070	rs_1596017653	1 SubmittersRCV001029885
NM_000539.3(RHO):c.310G>A (p.Val104Ile)	SNV Germline	Chr3:129529043	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary retinal dystrophy Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa 4 Retinal dystrophy RHO-related disorder	Criteria Provided Conflicting Classifications	CA2607107	rs_144317206	4 SubmittersRCV001067390 RCV002482112 RCV003890221 RCV004756165
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)	SNV Germline	Chr3:50193573	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness autosomal dominant 3 Congenital stationary night blindness 1G	Criteria Provided Conflicting Classifications	CA2412540	rs_778497200	4 SubmittersRCV001060334 RCV001593238 RCV005866781
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys)	SNV Germline	Chr4:625846	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 PDE6B-related disorder Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA2793876	rs_144590560	4 SubmittersRCV001040277 RCV001156702 RCV001156703 RCV004740547 RCV005394667
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)	SNV Germline	Chr4:662143	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA2794623	rs_760042062	4 SubmittersRCV001053317 RCV001074240 RCV002479325
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met)	SNV Germline	Chr4:662222	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2794637	rs_369980987	3 SubmittersRCV001046319 RCV001155046 RCV001155047 RCV004031433
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr)	SNV Germline	Chr4:663845	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794799	rs_779474710	2 SubmittersRCV001151261 RCV001151262 RCV001054297
NM_000843.4(GRM6):c.2041C>T (p.Gln681Ter)	SNV Germline	Chr5:178986213	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness	Criteria Provided Multiple Submitters No Conflicts	CA3593850	rs_769355168	2 SubmittersRCV001056875 RCV004017782
NM_000843.4(GRM6):c.2029C>T (p.Arg677Cys)	SNV Germline	Chr5:178986225	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1B	Criteria Provided Conflicting Classifications	CA3593853	rs_138551288	2 SubmittersRCV001035480 RCV005400482
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr)	SNV Germline	Chr15:31040285	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Conflicting Classifications	CA7452297	rs_138944426	3 SubmittersRCV001063059 RCV001118550
NM_000283.4(PDE6B):c.2193+5G>A	SNV Germline	Chr4:664949	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2	Criteria Provided Conflicting Classifications	CA2794920	rs_576895229	2 SubmittersRCV001043784 RCV001155157 RCV001155158
NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	SNV Germline	Chr3:129529061	Pathogenic	Retinal dystrophy Retinitis pigmentosa 4 Condition: not provided Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA354496911	rs_1578278438	5 SubmittersRCV001075603 RCV001265180 RCV001389459 RCV001542565 RCV003324555
NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	SNV Germline	Chr3:129532271	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa 4 Pigmentary retinal dystrophy Retinitis pigmentosa 4	Criteria Provided Multiple Submitters No Conflicts	CA354499186	rs_1402468701	6 SubmittersRCV001075493 RCV001337215 RCV001535689 RCV002249673 RCV003447316
NM_000539.3(RHO):c.647T>A (p.Met216Lys)	SNV Germline	Chr3:129532367	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Retinitis pigmentosa 4 Congenital stationary night blindness autosomal dominant 1	Criteria Provided Multiple Submitters No Conflicts	CA354469952	rs_984572250	7 SubmittersRCV001073436 RCV001090666 RCV001265200 RCV001542566
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)	SNV Germline	Chr4:663803	Pathogenic	Retinal dystrophy Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA2794791	rs_373037737	6 SubmittersRCV001074165 RCV001382538 RCV001724236 RCV001376495 RCV002497489
NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly)	SNV Germline	ChrX:49210328	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Congenital stationary night blindness 2A	Criteria Provided Conflicting Classifications	CA412960741	rs_1335615080	3 SubmittersRCV001074558 RCV001370310 RCV003389485
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)	SNV Germline	ChrX:49216465	Likely pathogenic	Congenital stationary night blindness 2A Retinal dystrophy	Criteria Provided Single Submitter	CA412964041	rs_2065717735	2 SubmittersRCV001270456 RCV001075550
NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=)	SNV Germline	Chr15:31001945	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA7451582	rs_201668928	3 SubmittersRCV001118361 RCV001443347 RCV003973086
NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys)	SNV Germline	Chr15:31002199	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA7451630	rs_561717036	3 SubmittersRCV001119897 RCV001473481 RCV004753212
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu)	SNV Germline	Chr15:31026205	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7451844	rs_577672274	2 SubmittersRCV001115312 RCV001523169
NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=)	SNV Germline	Chr15:31032764	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452053	rs_370822722	2 SubmittersRCV001119983 RCV001451348
NM_001252024.2(TRPM1):c.2496A>G (p.Lys832=)	SNV Germline	Chr15:31037786	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452178	rs_34915313	2 SubmittersRCV001120285 RCV001465784
NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=)	SNV Germline	Chr15:31037822	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7452184	rs_185129255	4 SubmittersRCV001120286 RCV001396784 RCV001701287
NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=)	SNV Germline	Chr15:31040166	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA489345619	rs_756489745	2 SubmittersRCV001118547 RCV005093534
NM_001252024.2(TRPM1):c.2246C>G (p.Thr749Ser)	SNV Germline	Chr15:31040188	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452283	rs_371356729	2 SubmittersRCV001118548 RCV002069919
NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=)	SNV Germline	Chr15:31040265	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452293	rs_370305789	2 SubmittersRCV001118549 RCV001407114
NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=)	SNV Germline	Chr15:31042148	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA7452369	rs_369315253	3 SubmittersRCV001120077 RCV001422543 RCV003953496
NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr)	SNV Germline	Chr15:31060552	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided Inborn genetic diseases TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA7452638	rs_201213623	6 SubmittersRCV001115494 RCV001487567 RCV002556269 RCV003963057
NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=)	SNV Germline	Chr15:31062579	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA7452707	rs_202130526	3 SubmittersRCV001116909 RCV002069889 RCV003906218
NM_001252024.2(TRPM1):c.795G>C (p.Leu265=)	SNV Germline	Chr15:31063288	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA7452798	rs_371394864	3 SubmittersRCV001116910 RCV001422008 RCV003906219
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)	SNV Germline	Chr15:31067130	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided Melanoma	Criteria Provided Conflicting Classifications	CA7452913	rs_188852505	6 SubmittersRCV001120190 RCV001359940 RCV005913769
NM_004727.3(SLC24A1):c.175C>G (p.Pro59Ala)	SNV Germline	Chr15:65624255	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7619704	rs_533092441	2 SubmittersRCV001115605 RCV001501016
NM_004727.3(SLC24A1):c.309A>G (p.Thr103=)	SNV Germline	Chr15:65624389	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7619733	rs_375495390	2 SubmittersRCV001115607 RCV001504521
NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=)	SNV Germline	Chr15:65625622	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7619930	rs_372658740	2 SubmittersRCV001118669 RCV001414433
NM_004727.3(SLC24A1):c.1911G>A (p.Ala637=)	SNV Germline	Chr15:65638148	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7620014	rs_372995067	2 SubmittersRCV001120607 RCV002069964
NM_004727.3(SLC24A1):c.2166G>A (p.Ala722=)	SNV Germline	Chr15:65645637	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7620109	rs_565350549	2 SubmittersRCV001115693 RCV002069859
NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=)	SNV Germline	Chr15:65645697	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7620116	rs_372137068	2 SubmittersRCV001115694 RCV001308408
NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile)	SNV Germline	Chr15:65651714	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7620229	rs_760348512	3 SubmittersRCV001118755 RCV001856559 RCV004960470
NM_004727.3(SLC24A1):c.3058G>A (p.Val1020Ile)	SNV Germline	Chr15:65653837	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided SLC24A1-related disorder	Criteria Provided Conflicting Classifications	CA7620318	rs_375878760	3 SubmittersRCV001120696 RCV001455633 RCV004754693
NM_004727.3(SLC24A1):c.3072T>C (p.Leu1024=)	SNV Germline	Chr15:65653851	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7620320	rs_139757342	2 SubmittersRCV001120697 RCV002556595
NM_001252024.2(TRPM1):c.3294-15G>A	SNV Germline	Chr15:31027132	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7451909	rs_376352901	2 SubmittersRCV001118466 RCV002069916
NM_001252024.2(TRPM1):c.2440-12T>A	SNV Germline	Chr15:31037854	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA7452190	rs_200151910	2 SubmittersRCV001120287 RCV001523241
NM_001252024.2(TRPM1):c.1795-8C>G	SNV Germline	Chr15:31042251	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1C Condition: not provided TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA7452398	rs_183856964	5 SubmittersRCV001120078 RCV001421582 RCV003963066
NM_004727.3(SLC24A1):c.1891-6T>C	SNV Germline	Chr15:65638122	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided SLC24A1-related disorder	Criteria Provided Conflicting Classifications	CA7620003	rs_372058206	4 SubmittersRCV001120605 RCV001411743 RCV003945833
NM_004727.3(SLC24A1):c.2794-11C>A	SNV Germline	Chr15:65651659	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA271572135	rs_879718216	2 SubmittersRCV001118754 RCV002069925
NM_004727.3(SLC24A1):c.2884-9G>A	SNV Germline	Chr15:65652633	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA7620272	rs_374590721	2 SubmittersRCV001118756 RCV001461262
NM_001004334.4(GPR179):c.5905G>A (p.Val1969Ile)	SNV Germline	Chr17:38327664	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided GPR179-related disorder	Criteria Provided Conflicting Classifications	CA290103249	rs_144104172	3 SubmittersRCV001122171 RCV002069987 RCV003938472
NM_001004334.4(GPR179):c.5868C>T (p.Ser1956=)	SNV Germline	Chr17:38327701	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290103270	rs_202228440	3 SubmittersRCV001124946 RCV001469156
NM_001004334.4(GPR179):c.5859G>A (p.Glu1953=)	SNV Germline	Chr17:38327710	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290103275	rs_370586289	2 SubmittersRCV001124947 RCV002070035
NM_001004334.4(GPR179):c.5416G>A (p.Ala1806Thr)	SNV Germline	Chr17:38328153	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290103567	rs_201654499	2 SubmittersRCV001125923 RCV001509654
NM_001004334.4(GPR179):c.4188A>G (p.Gln1396=)	SNV Germline	Chr17:38329381	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided GPR179-related disorder	Criteria Provided Conflicting Classifications	CA290104342	rs_201368251	3 SubmittersRCV001122267 RCV002069988 RCV003938473
NM_001004334.4(GPR179):c.4047G>A (p.Ala1349=)	SNV Germline	Chr17:38329522	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290104455	rs_201461684	2 SubmittersRCV001122273 RCV002069990
NM_001004334.4(GPR179):c.3411G>A (p.Ala1137=)	SNV Germline	Chr17:38330158	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290105128	rs_539071271	2 SubmittersRCV001122379 RCV002069993
NM_001004334.4(GPR179):c.3349G>A (p.Gly1117Arg)	SNV Germline	Chr17:38330220	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290105200	rs_771334464	3 SubmittersRCV001122382 RCV001856611 RCV004032237
NM_001004334.4(GPR179):c.3348C>T (p.Ser1116=)	SNV Germline	Chr17:38330221	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290105203	rs_78284900	2 SubmittersRCV001122383 RCV002069994
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln)	SNV Germline	Chr17:38331156	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290105860	rs_199619898	3 SubmittersRCV001126137 RCV001512848
NM_001004334.4(GPR179):c.1947C>T (p.Asp649=)	SNV Germline	Chr17:38333341	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290106860	rs_372049950	2 SubmittersRCV001128224 RCV002070493
NM_001004334.4(GPR179):c.1533C>T (p.Gly511=)	SNV Germline	Chr17:38335145	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290108660	rs_200421731	2 SubmittersRCV001122493 RCV002069998
NM_001004334.4(GPR179):c.1466G>A (p.Arg489Gln)	SNV Germline	Chr17:38335212	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290108706	rs_551972571	3 SubmittersRCV001125277 RCV001856644 RCV005841709
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val)	SNV Germline	Chr17:38337072	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290109367	rs_192426710	6 SubmittersRCV001126249 RCV001512849 RCV002556740
NM_001004334.4(GPR179):c.976G>A (p.Ala326Thr)	SNV Germline	Chr17:38337648	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290109620	rs_201963254	2 SubmittersRCV001126252 RCV002070063
NM_001004334.4(GPR179):c.858A>G (p.Pro286=)	SNV Germline	Chr17:38339462	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290110162	rs_758285150	2 SubmittersRCV001128302 RCV003708575
NM_001004334.4(GPR179):c.489C>T (p.Ala163=)	SNV Germline	Chr17:38343301	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA290111594	rs_749471277	2 SubmittersRCV001123665 RCV002070018
NM_000539.3(RHO):c.62G>A (p.Arg21His)	SNV Germline	Chr3:129528795	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2607052	rs_552455660	2 SubmittersRCV001145549 RCV001145548 RCV001858954
NM_000539.3(RHO):c.399C>A (p.Ile133=)	SNV Germline	Chr3:129530913	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 1 Condition: not provided Retinitis pigmentosa 4 Congenital stationary night blindness autosomal dominant 1	Criteria Provided Conflicting Classifications	CA2607150	rs_372812523	3 SubmittersRCV001148423 RCV001148424 RCV001324702 RCV001535704
NM_000539.3(RHO):c.630C>T (p.Val210=)	SNV Germline	Chr3:129532350	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2607227	rs_371192803	2 SubmittersRCV001143872 RCV001150000 RCV001423121
NM_000539.3(RHO):c.732G>A (p.Gln244=)	SNV Germline	Chr3:129532568	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2607276	rs_148222991	2 SubmittersRCV001145772 RCV001145773 RCV002070760
NM_000539.3(RHO):c.744G>A (p.Lys248=)	SNV Germline	Chr3:129532580	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2607278	rs_141185480	3 SubmittersRCV001145774 RCV001145775 RCV001311612
NM_000539.3(RHO):c.948C>T (p.Cys316=)	SNV Germline	Chr3:129533619	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 1	Criteria Provided Conflicting Classifications	CA2607343	rs_754809715	1 SubmittersRCV001148539 RCV001148540
NM_000539.3(RHO):c.*959A>G	SNV Germline	Chr3:129534677	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA82621833	rs_368910470	1 SubmittersRCV001253990 RCV001253989
NM_144499.3(GNAT1):c.165C>T (p.Asp55=)	SNV Germline	Chr3:50193280	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA2412477	rs_776566245	2 SubmittersRCV001149175 RCV002070809
NM_198506.5(LRIT3):c.99T>C (p.Asn33=)	SNV Germline	Chr4:109848300	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided	Criteria Provided Conflicting Classifications	CA103728507	rs_1054476083	2 SubmittersRCV001146146 RCV001465159
NM_198506.5(LRIT3):c.327G>A (p.Glu109=)	SNV Germline	Chr4:109851714	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided LRIT3-related disorder	Criteria Provided Conflicting Classifications	CA103732026	rs_992042707	3 SubmittersRCV001149185 RCV002070810 RCV003953531
NM_198506.5(LRIT3):c.492A>G (p.Arg164=)	SNV Germline	Chr4:109851879	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided	Criteria Provided Conflicting Classifications	CA103732121	rs_890325688	2 SubmittersRCV001150694 RCV003737002
NM_198506.5(LRIT3):c.1677G>A (p.Val559=)	SNV Germline	Chr4:109870426	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F Condition: not provided	Criteria Provided Conflicting Classifications	CA3043240	rs_762638752	2 SubmittersRCV001144685 RCV002070744
NM_000539.3(RHO):c.361+10G>A	SNV Germline	Chr3:129529104	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 1 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2607122	rs_372128112	3 SubmittersRCV001145667 RCV001145666 RCV002070759 RCV004813800
NM_000539.3(RHO):c.697-11G>A	SNV Germline	Chr3:129532522	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2607270	rs_367631575	2 SubmittersRCV001143874 RCV001143873 RCV002070735
NM_144499.3(GNAT1):c.149+8C>A	SNV Germline	Chr3:50193183	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1139658078	rs_1699440055	2 SubmittersRCV001149174 RCV002559435
NM_000283.4(PDE6B):c.59G>A (p.Arg20His)	SNV Germline	Chr4:625685	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2793834	rs_781251175	3 SubmittersRCV001151131 RCV001151130 RCV001301724 RCV004032791
NM_000283.4(PDE6B):c.285C>T (p.Phe95=)	SNV Germline	Chr4:625911	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2793898	rs_746211772	2 SubmittersRCV001151253 RCV001156705 RCV001454853
NM_000283.4(PDE6B):c.297G>A (p.Gln99=)	SNV Germline	Chr4:625923	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2793902	rs_768652560	2 SubmittersRCV001151254 RCV001151255 RCV002070829
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys)	SNV Germline	Chr4:625924	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2793903	rs_537263212	2 SubmittersRCV001151256 RCV001151257 RCV002070830
NM_000283.4(PDE6B):c.316C>T (p.Leu106=)	SNV Germline	Chr4:625942	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2793910	rs_752429712	2 SubmittersRCV001151260 RCV001151259 RCV002557261
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu)	SNV Germline	Chr4:625970	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2793914	rs_189172362	3 SubmittersRCV001154323 RCV001154324 RCV002032423 RCV004032810
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)	SNV Germline	Chr4:654863	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2794239	rs_140224236	4 SubmittersRCV001154093 RCV001154092 RCV001394923 RCV003890311
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=)	SNV Germline	Chr4:660505	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2794565	rs_750323428	2 SubmittersRCV001154207 RCV001154206 RCV002070884
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His)	SNV Germline	Chr4:662591	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided Retinal dystrophy Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA2794685	rs_752846577	4 SubmittersRCV001156706 RCV001156707 RCV001301231 RCV003890313 RCV005394771
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)	SNV Germline	Chr4:663163	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA437900505	rs_1737323722	2 SubmittersRCV001156710 RCV001156711 RCV001615127
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu)	SNV Germline	Chr4:667973	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2795068	rs_138682290	2 SubmittersRCV001154418 RCV001154417 RCV001209911
NM_000283.4(PDE6B):c.*474C>G	SNV Germline	Chr4:670581	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2	Criteria Provided Conflicting Classifications	CA91097061	rs_577140751	1 SubmittersRCV001157028 RCV001157029
NM_000283.4(PDE6B):c.2352+14G>A	SNV Germline	Chr4:666628	Conflicting classifications of pathogenicity	Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2795019	rs_752968664	2 SubmittersRCV001151392 RCV001151391 RCV002557265
NM_000283.4(PDE6B):c.2353-13C>T	SNV Germline	Chr4:667843	Conflicting classifications of pathogenicity	Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2795034	rs_369466418	2 SubmittersRCV001151394 RCV001151393 RCV002070834
NM_001378477.3(NYX):c.645C>G (p.Ala215=)	SNV Germline	ChrX:41474113	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA329217054	rs_924692905	2 SubmittersRCV001168945 RCV002068035
NM_001252024.2(TRPM1):c.941C>A (p.Ala314Glu)	SNV Germline	Chr15:31063142	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Conflicting Classifications	CA7452764	rs_763506869	2 SubmittersRCV001220836 RCV005860194
NM_001252024.2(TRPM1):c.1623+1G>A	SNV Germline	Chr15:31047888	Likely pathogenic	Intellectual disability Congenital stationary night blindness 1C	Criteria Provided Single Submitter	CA391515691	rs_2033825467	1 SubmittersRCV001255343 RCV001262194
NM_000539.3(RHO):c.362G>T (p.Gly121Val)	SNV Germline	Chr3:129530876	Likely pathogenic	Retinitis pigmentosa 4 Congenital stationary night blindness autosomal dominant 1	Criteria Provided Single Submitter	CA354497833	rs_2084774644	1 SubmittersRCV001265183 RCV001265184
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)	SNV Germline	ChrX:49206537	Pathogenic	Congenital stationary night blindness 2A Condition: not provided Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA10409977	rs_782034481	4 SubmittersRCV001270461 RCV003558787 RCV005910801
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)	SNV Germline	ChrX:49216436	Likely pathogenic	Congenital stationary night blindness 2A	No Assertion Criteria Provided	CA412963968	rs_2065717075	1 SubmittersRCV001270460
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)	SNV Germline	ChrX:49223032	Likely pathogenic	Congenital stationary night blindness 2A	No Assertion Criteria Provided	CA412912239	rs_2065788651	1 SubmittersRCV001270459
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	SNV Germline	ChrX:49231708	Conflicting classifications of pathogenicity	Congenital stationary night blindness 2A Condition: not provided Aland island eye disease CACNA1F-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA412927194	rs_2065880189	6 SubmittersRCV001270455 RCV001751538 RCV002290679 RCV005866915 RCV004815273
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)	SNV Germline	Chr3:50193388	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness autosomal dominant 3 Congenital stationary night blindness 1G	Criteria Provided Multiple Submitters No Conflicts	CA2412494	rs_143481438	2 SubmittersRCV001388651 RCV002476734
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)	SNV Germline	Chr4:662584	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA2794682	rs_764605140	5 SubmittersRCV001382537 RCV001702590 RCV002272466
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)	SNV Germline	Chr5:178988953	Pathogenic	Condition: not provided Congenital stationary night blindness 1B	Criteria Provided Multiple Submitters No Conflicts	CA3594121	rs_764476239	2 SubmittersRCV001385681 RCV001810046
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)	SNV Germline	Chr15:31037739	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Multiple Submitters No Conflicts	CA7452166	rs_180869804	2 SubmittersRCV001385696 RCV002488206
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)	SNV Germline	Chr15:65639613	Pathogenic	Condition: not provided Congenital stationary night blindness 1D SLC24A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7620046	rs_201452975	4 SubmittersRCV001380449 RCV002488199 RCV004754746
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)	SNV Germline	ChrX:49217915	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness 2A X-linked cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA412964355	rs_1249437161	5 SubmittersRCV001388117 RCV002272468 RCV005253837
NM_001004334.4(GPR179):c.619G>C (p.Gly207Arg)	SNV Germline	Chr17:38343171	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA398888846	rs_1329542100	2 SubmittersRCV001732863 RCV005094917
NM_000843.4(GRM6):c.722-1G>T	SNV Germline	Chr5:178991560	Pathogenic	Congenital stationary night blindness 1B	Criteria Provided Single Submitter	CA3594370	rs_766594761	1 SubmittersRCV001783402
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)	SNV Germline	Chr4:109867747	Pathogenic	Congenital stationary night blindness 1F	Criteria Provided Single Submitter	CA357867036	rs_2125900955	1 SubmittersRCV001783612
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)	SNV Germline	Chr15:31042025	Pathogenic	Congenital stationary night blindness 1C	Criteria Provided Single Submitter	CA391511397	rs_1195734631	1 SubmittersRCV001785091
NM_001004334.4(GPR179):c.481C>T (p.Gln161Ter)	SNV Germline	Chr17:38343309	Likely pathogenic	Congenital stationary night blindness 1E	Criteria Provided Single Submitter		rs_768765919	1 SubmittersRCV004797250
NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)	SNV Germline	Chr17:38343642	Likely pathogenic	Congenital stationary night blindness 1E	Criteria Provided Single Submitter	CA290111916	rs_767430727	1 SubmittersRCV001782229
NM_001252024.2(TRPM1):c.3496+2T>C	SNV Germline	Chr15:31026913	Likely pathogenic	Congenital stationary night blindness 1C	Criteria Provided Single Submitter	CA7451872	rs_773030662	1 SubmittersRCV001783914
NM_004727.3(SLC24A1):c.2884-1G>C	SNV Germline	Chr15:65652641	Likely pathogenic	Congenital stationary night blindness 1D Condition: not provided Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA7620273	rs_766014688	3 SubmittersRCV001807971 RCV001869576 RCV005922636
NM_000843.4(GRM6):c.575G>A (p.Arg192Gln)	SNV Germline	Chr5:178992013	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1B	Criteria Provided Conflicting Classifications	CA3594487	rs_757057677	2 SubmittersRCV001955720 RCV005400525
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)	SNV Germline	Chr4:625888	Pathogenic	Condition: not provided Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA91052133	rs_970768801	2 SubmittersRCV001894137 RCV002503398
NM_001252024.2(TRPM1):c.3127+1G>A	SNV Germline	Chr15:31030982	Pathogenic	Condition: not provided Retinal dystrophy Congenital stationary night blindness 1C	Criteria Provided Multiple Submitters No Conflicts	CA7451988	rs_749930261	3 SubmittersRCV002027062 RCV004816930 RCV006257349
NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)	SNV Germline	Chr17:38334821	Pathogenic	Congenital stationary night blindness 1E	Criteria Provided Single Submitter	CA398886249	rs_2037388948	1 SubmittersRCV002283613
NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)	SNV Germline	Chr17:38337666	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness 1E Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA290109636	rs_768587459	3 SubmittersRCV002581055 RCV005412425 RCV004817053
NM_001004334.4(GPR179):c.3049C>T (p.Arg1017Ter)	SNV Germline	Chr17:38330520	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1E	Criteria Provided Conflicting Classifications	CA290105404	rs_1023039979	2 SubmittersRCV002908402 RCV005356212
NM_001252024.2(TRPM1):c.83+1G>A	SNV Germline	Chr15:31076904	Likely pathogenic	Condition: not provided Congenital stationary night blindness 1C	Criteria Provided Multiple Submitters No Conflicts	CA7453123	rs_747553429	2 SubmittersRCV003032660 RCV005631085
NM_000843.4(GRM6):c.340C>T (p.Gln114Ter)	SNV Germline	Chr5:178994605	Likely pathogenic	Congenital stationary night blindness 1B	Criteria Provided Single Submitter	CA362436166	rs_1304183009	1 SubmittersRCV003447881
NM_004727.3(SLC24A1):c.2983C>T (p.Arg995Ter)	SNV Germline	Chr15:65652741	Pathogenic/Likely pathogenic	Condition: not provided Congenital stationary night blindness 1D	Criteria Provided Multiple Submitters No Conflicts	CA7620290	rs_762665302	2 SubmittersRCV003840116 RCV005631252
NM_000843.4(GRM6):c.2497G>C (p.Gly833Arg)	SNV Germline	Chr5:178981794	Likely pathogenic	Congenital stationary night blindness 1C	Criteria Provided Single Submitter			1 SubmittersRCV004765409
NM_001252024.2(TRPM1):c.2373T>A (p.Tyr791Ter)	SNV Germline	Chr15:31038110	Pathogenic	Congenital stationary night blindness 1C	Criteria Provided Single Submitter			1 SubmittersRCV004765454
NM_144499.3(GNAT1):c.98T>C (p.Leu33Pro)	SNV Germline	Chr3:50191823	Likely pathogenic	Congenital stationary night blindness 1C	Criteria Provided Single Submitter			1 SubmittersRCV004768482
NM_144499.3(GNAT1):c.124A>G (p.Lys42Glu)	SNV Germline	Chr3:50193150	Likely pathogenic	Congenital stationary night blindness 1C	Criteria Provided Single Submitter			1 SubmittersRCV004771604
NM_001252024.2(TRPM1):c.274G>C (p.Ala92Pro)	SNV Germline	Chr15:31070036	Likely pathogenic	Congenital stationary night blindness 1C	Criteria Provided Single Submitter			1 SubmittersRCV004775651
NM_000843.4(GRM6):c.2560C>T (p.Arg854Ter)	SNV Germline	Chr5:178981731	Likely pathogenic	Congenital stationary night blindness 1B	Criteria Provided Single Submitter			1 SubmittersRCV004785845
NM_001004334.4(GPR179):c.951C>A (p.Cys317Ter)	SNV Germline	Chr17:38337673	Likely pathogenic	Congenital stationary night blindness 1E	Criteria Provided Single Submitter			1 SubmittersRCV004795876
NM_001004334.4(GPR179):c.3238C>T (p.Gln1080Ter)	SNV Germline	Chr17:38330331	Likely pathogenic	Congenital stationary night blindness 1E	Criteria Provided Single Submitter			1 SubmittersRCV005362001
NM_004727.3(SLC24A1):c.1749G>A (p.Trp583Ter)	SNV Germline	Chr15:65625829	Likely pathogenic	Congenital stationary night blindness 1D	Criteria Provided Single Submitter			1 SubmittersRCV005631491
NM_001256789.3(CACNA1F):c.3793-2A>T	SNV Germline	ChrX:49212996	Likely pathogenic	Congenital stationary night blindness 2A	Criteria Provided Single Submitter			1 SubmittersRCV005880774

NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)

SNV
Germline

Chr5:178986393

Pathogenic

Congenital stationary night blindness 1B
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA117799

rs_62638214

8 SubmittersRCV000006197 RCV000086036 RCV001074243 RCV000787608

NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)

SNV
Germline

Chr5:178986132

Pathogenic

Congenital stationary night blindness 1B
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA117802

rs_62638624

4 SubmittersRCV000006199 RCV000086044 RCV004814843

NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)

SNV
Germline

Chr5:178994497

Likely pathogenic

Congenital stationary night blindness 1B
Condition: not provided

Criteria Provided
Single Submitter

CA117804

rs_62638202

3 SubmittersRCV000006200 RCV000086056

NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)

SNV
Germline

Chr5:178994808

Likely pathogenic

Congenital stationary night blindness 1B
Condition: not provided
Congenital stationary night blindness

Criteria Provided
Multiple Submitters
No Conflicts

CA117805

rs_62638197

5 SubmittersRCV000006201 RCV000086025 RCV000504939

NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)

SNV
Germline

Chr5:178989075

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA117807

rs_121434304

5 SubmittersRCV000006204 RCV000439410

NM_001252024.2(TRPM1):c.2087+2T>C

SNV
Germline

Chr15:31041949

Pathogenic

Congenital stationary night blindness 1C

No Assertion Criteria Provided

CA7452337

rs_766862238

1 SubmittersRCV000006601

NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)

SNV
Germline

Chr15:31028454

Pathogenic

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Single Submitter

CA118065

rs_267607140

2 SubmittersRCV000006603 RCV003555943

NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter)

SNV
Germline

Chr15:31070213

Pathogenic

Congenital stationary night blindness 1C

No Assertion Criteria Provided

CA118067

rs_267607141

1 SubmittersRCV000006604

NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)

SNV
Germline

Chr15:31068010

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA118069

rs_191205969

5 SubmittersRCV000006605 RCV000429578 RCV001074901

NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)

SNV
Germline

Chr12:55724028

Pathogenic/Likely pathogenic

Fundus albipunctatus, autosomal recessive
Condition: not provided
Pigmentary retinal dystrophy
See cases
Congenital stationary night blindness
RDH5-related disorder
Retinal dystrophy
Retinitis punctata albescens

Criteria Provided
Multiple Submitters
No Conflicts

CA119196

rs_62638191

16 SubmittersRCV000008467 RCV000597673 RCV000988861 RCV002251890 RCV003324486 RCV003390658 RCV004814863 RCV005357098

NM_002905.5(RDH5):c.839G>A (p.Arg280His)

SNV
Germline

Chr12:55724427

Pathogenic/Likely pathogenic

Fundus albipunctatus, autosomal recessive
Condition: not provided
Pigmentary retinal dystrophy
Congenital stationary night blindness

Criteria Provided
Multiple Submitters
No Conflicts

CA119200

rs_62638193

6 SubmittersRCV000008469 RCV000592822 RCV000779108 RCV003324487

NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)

SNV
Germline

ChrX:41474502

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA227934

rs_62637037

4 SubmittersRCV000012174 RCV000086260 RCV002247327

NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)

SNV
Germline

ChrX:41473558

Pathogenic

Condition: not provided
Congenital stationary night blindness 1A

No Assertion Criteria Provided

CA227936

rs_62637021

2 SubmittersRCV000086261 RCV000012175

NM_001378477.3(NYX):c.266G>C (p.Arg89Pro)

SNV
Germline

ChrX:41473734

Pathogenic

Congenital stationary night blindness 1A

No Assertion Criteria Provided

CA255878

rs_104894910

1 SubmittersRCV000012177

NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)

SNV
Germline

ChrX:41473755

Pathogenic

Congenital stationary night blindness 1A

No Assertion Criteria Provided

CA255880

rs_104894911

1 SubmittersRCV000012178

NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp)

SNV
Germline

ChrX:49228048

Pathogenic

Congenital stationary night blindness 2A

No Assertion Criteria Provided

CA255937

rs_122456133

1 SubmittersRCV000012380

NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)

SNV
Germline

ChrX:49218511

Pathogenic

Congenital stationary night blindness 2A
Congenital stationary night blindness
Condition: not provided
Retinal dystrophy
CACNA1F-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA255938

rs_122456134

7 SubmittersRCV000012381 RCV000504913 RCV001388118 RCV001073304 RCV004730844

NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)

SNV
Germline

ChrX:49219344

Pathogenic

Congenital stationary night blindness 2A
Congenital stationary night blindness
Condition: not provided

Criteria Provided
Single Submitter

CA255942

rs_122456135

5 SubmittersRCV000012383 RCV001002915 RCV001699019

NM_001256789.3(CACNA1F):c.2234T>C (p.Ile745Thr)

SNV
Germline

ChrX:49222576

Pathogenic

Congenital stationary night blindness, type 2A, severe
Condition: not provided

Criteria Provided
Single Submitter

CA121617

rs_122456136

2 SubmittersRCV000012385 RCV002512984

NM_000539.3(RHO):c.68C>A (p.Pro23His)

SNV
Germline

Chr3:129528801

Pathogenic

Retinitis pigmentosa 4
Condition: not provided
Pigmentary retinal dystrophy
Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa 4
Retinal dystrophy
RHO-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256661

rs_104893768

8 SubmittersRCV000013887 RCV000490234 RCV000763095 RCV001075876 RCV004755731

NM_000539.3(RHO):c.875C>A (p.Ala292Glu)

SNV
Germline

Chr3:129532711

Pathogenic

Congenital stationary night blindness autosomal dominant 1

No Assertion Criteria Provided

CA122822

rs_104893789

1 SubmittersRCV000013919

NM_000539.3(RHO):c.269G>A (p.Gly90Asp)

SNV
Germline

Chr3:129529002

Pathogenic

Congenital stationary night blindness autosomal dominant 1
Pigmentary retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122823

rs_104893790

5 SubmittersRCV000013920 RCV001195814 RCV001268622 RCV004814895

NM_000539.3(RHO):c.281C>T (p.Thr94Ile)

SNV
Germline

Chr3:129529014

Likely pathogenic

Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Single Submitter

CA122825

rs_104893796

2 SubmittersRCV000013929

NM_000283.4(PDE6B):c.772C>A (p.His258Asn)

SNV
Germline

Chr4:653912

Pathogenic

Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Single Submitter

CA122842

rs_121918582

2 SubmittersRCV000013986 RCV005089246

NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)

SNV
Germline

Chr3:50193139

Pathogenic

Congenital stationary night blindness autosomal dominant 3

No Assertion Criteria Provided

CA126053

rs_104893740

1 SubmittersRCV000017277

NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)

SNV
Germline

Chr15:31042102

Likely pathogenic

Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

CA129158

rs_387906862

2 SubmittersRCV000023310

NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter)

SNV
Germline

Chr15:31032930

Pathogenic

Congenital stationary night blindness 1C

No Assertion Criteria Provided

CA213022

rs_786205113

1 SubmittersRCV000023311

NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)

SNV
Germline

Chr17:38334016

Pathogenic

Congenital stationary night blindness 1E
Condition: not provided

No Assertion Criteria Provided

CA129743

rs_281875234

2 SubmittersRCV000024199 RCV000059653

NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)

SNV
Germline

Chr17:38343192

Pathogenic

Congenital stationary night blindness 1E

No Assertion Criteria Provided

CA129748

rs_387907138

1 SubmittersRCV000024201

NM_001004334.4(GPR179):c.1784+1G>A

SNV
Germline

Chr17:38334703

Pathogenic

Congenital stationary night blindness 1E

No Assertion Criteria Provided

CA129751

rs_773126191

1 SubmittersRCV000024202

NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)

SNV
Germline

Chr17:38343131

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA129757

rs_281875236

4 SubmittersRCV000024205 RCV000059655

NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)

SNV
Germline

Chr4:109869900

Pathogenic

Congenital stationary night blindness 1F

No Assertion Criteria Provided

CA130294

rs_397509379

1 SubmittersRCV000032635

NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)

SNV
Germline

Chr4:625939

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA220605

rs_398123299

6 SubmittersRCV000078554 RCV000778735 RCV001074335 RCV001151258 RCV005252736

NM_000283.4(PDE6B):c.615C>T (p.Asp205=)

SNV
Germline

Chr4:634823

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145991

rs_149293844

7 SubmittersRCV000078555 RCV000282490 RCV000335369 RCV000962986

NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)

SNV
Germline

Chr4:635913

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA145993

rs_62295357

7 SubmittersRCV000078556 RCV000488132 RCV000987384 RCV001151689

NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)

SNV
Germline

Chr15:31067145

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C
Retinitis pigmentosa
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA221943

rs_138886378

7 SubmittersRCV000080008 RCV000763957 RCV000787888 RCV003935039

NM_000283.4(PDE6B):c.711+10C>T

SNV
Germline

Chr4:635979

Conflicting classifications of pathogenicity

not specified
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292713

rs_201100689

4 SubmittersRCV000127389 RCV000313689 RCV000395859 RCV000971875

NM_000283.4(PDE6B):c.1401+4C>T

SNV
Germline

Chr4:657498

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA180277

rs_113246945

6 SubmittersRCV000153665 RCV001156613 RCV001151135 RCV001515674 RCV004815230

NM_000283.4(PDE6B):c.2193+1G>A

SNV
Germline

Chr4:664945

Pathogenic

Retinitis pigmentosa 40
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2
PDE6B-related disorder
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA273358

rs_727504075

16 SubmittersRCV000153667 RCV000216602 RCV001073971 RCV000723948 RCV002498731 RCV003387510 RCV005888435

NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)

SNV
Germline

Chr3:50194111

Pathogenic

Congenital stationary night blindness autosomal dominant 3

No Assertion Criteria Provided

CA199760

rs_786205853

1 SubmittersRCV000171140

NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)

SNV
Germline

Chr3:50193600

Pathogenic

Congenital stationary night blindness 1G

No Assertion Criteria Provided

CA250324

rs_786205854

1 SubmittersRCV000171141

NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)

SNV
Germline

Chr4:625758

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200297

rs_199974771

3 SubmittersRCV000173098 RCV000337389 RCV000398223 RCV001518969

NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)

SNV
Germline

Chr17:38331159

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1E
GPR179-related disorder

Criteria Provided
Conflicting Classifications

CA239493

rs_201086495

5 SubmittersRCV000174026 RCV001126138 RCV003947469

NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)

SNV
Germline

Chr4:109851766

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1F
LRIT3-related disorder
Optic atrophy

Criteria Provided
Conflicting Classifications

CA241863

rs_148810231

6 SubmittersRCV000176006 RCV000284226 RCV003977435 RCV004816275

NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)

SNV
Germline

Chr4:666606

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA241888

rs_145124626

3 SubmittersRCV000176031 RCV000259243 RCV000314427

NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val)

SNV
Germline

Chr15:31035593

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Conflicting Classifications

CA241929

rs_201650867

3 SubmittersRCV000176062 RCV001119987

NM_001252024.2(TRPM1):c.2701-10T>A

SNV
Germline

Chr15:31032950

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA242066

rs_201747375

4 SubmittersRCV000176189 RCV001119986 RCV004752775

NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met)

SNV
Germline

Chr15:31002201

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA242766

rs_201617759

4 SubmittersRCV000176732 RCV000399652 RCV004816281

NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)

SNV
Germline

Chr17:38337665

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1E
GPR179-related disorder

Criteria Provided
Conflicting Classifications

CA243201

rs_189931659

7 SubmittersRCV000177095 RCV000765348 RCV003977447

NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)

SNV
Germline

Chr4:653934

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA245084

rs_144562730

8 SubmittersRCV000178068 RCV000288799 RCV000346036

NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln)

SNV
Germline

Chr17:38336985

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245160

rs_568763662

4 SubmittersRCV000178134 RCV000364314 RCV002516766

NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)

SNV
Germline

Chr4:654132

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA245910

rs_146646008

5 SubmittersRCV000178746 RCV000276359 RCV000331462 RCV001699056

NM_001252024.2(TRPM1):c.507C>T (p.His169=)

SNV
Germline

Chr15:31067174

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Conflicting Classifications

CA246055

rs_201157794

3 SubmittersRCV000178864 RCV001120191

NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)

SNV
Germline

Chr15:65650927

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1D
not specified

Criteria Provided
Conflicting Classifications

CA247206

rs_117685425

5 SubmittersRCV000179895 RCV000272081 RCV001699144

NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)

SNV
Germline

Chr15:65650726

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1D

Criteria Provided
Conflicting Classifications

CA247208

rs_371059164

3 SubmittersRCV000179896 RCV000360829

NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro)

SNV
Germline

Chr15:31066093

Likely pathogenic

Congenital stationary night blindness 1C

No Assertion Criteria Provided

CA353596

rs_869312176

1 SubmittersRCV000210285

NM_000843.4(GRM6):c.1537G>A (p.Val513Met)

SNV
Germline

Chr5:178986717

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1B
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3594005

rs_201396068

3 SubmittersRCV000490371 RCV001073808 RCV001414928

NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)

SNV
Germline

Chr15:31060544

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Congenital stationary night blindness
Night blindness

Criteria Provided
Conflicting Classifications

CA7452635

rs_768701595

5 SubmittersRCV000490382 RCV001003232 RCV004798815

NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter)

SNV
Germline

Chr12:6846892

Pathogenic

Congenital stationary night blindness 1H

No Assertion Criteria Provided

CA10584040

rs_879253773

1 SubmittersRCV000234969

NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)

SNV
Germline

ChrX:49224768

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital stationary night blindness 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10410781

rs_141010716

9 SubmittersRCV000242863 RCV000726719 RCV000990822 RCV004816456

NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)

SNV
Germline

ChrX:49224798

Pathogenic

Condition: not provided
Aland island eye disease
Congenital stationary night blindness 2A
X-linked cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10588791

rs_886039559

7 SubmittersRCV000254855 RCV000787553 RCV001197452 RCV001542625

NM_001256789.3(CACNA1F):c.148C>T (p.Arg50Ter)

SNV
Germline

ChrX:49231805

Pathogenic

Condition: not provided
Congenital stationary night blindness 2A
X-linked cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10588792

rs_886039560

4 SubmittersRCV000255201 RCV003989512 RCV005869192

NM_001256789.3(CACNA1F):c.2543+1G>A

SNV
Germline

ChrX:49219633

Pathogenic

Condition: not provided
Aland island eye disease
Congenital stationary night blindness 2A
X-linked cone-rod dystrophy 3
CACNA1F-related disorder
X-linked CACNA1F-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA10605098

rs_886044841

6 SubmittersRCV000360556 RCV002502130 RCV003417898 RCV006555776

NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg)

SNV
Germline

Chr15:65650913

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital stationary night blindness 1D

Criteria Provided
Conflicting Classifications

CA7620194

rs_146253044

4 SubmittersRCV000407299 RCV000897401 RCV001117117

NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)

SNV
Germline

Chr4:664903

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA2794912

rs_150639487

7 SubmittersRCV000277605 RCV000297097 RCV000332675 RCV002286728

NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)

SNV
Germline

Chr15:65625939

Conflicting classifications of pathogenicity

not specified
Congenital stationary night blindness 1D
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7619980

rs_35398714

7 SubmittersRCV000265032 RCV000381983 RCV001516510 RCV006362210

NM_000283.4(PDE6B):c.2504-1G>C

SNV
Germline

Chr4:670045

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA2795101

rs_201870319

4 SubmittersRCV000290796 RCV001154419 RCV001154420 RCV005895857

NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)

SNV
Germline

Chr15:31031040

Conflicting classifications of pathogenicity

Congenital stationary night blindness
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7451999

rs_369484186

4 SubmittersRCV000505065 RCV000726426

NM_000539.3(RHO):c.48G>A (p.Ala16=)

SNV
Germline

Chr3:129528781

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607044

rs_766112074

2 SubmittersRCV000323919 RCV000371594 RCV003765982

NM_000539.3(RHO):c.480C>A (p.Thr160=)

SNV
Germline

Chr3:129530994

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2607168

rs_151063543

6 SubmittersRCV000309251 RCV000389975 RCV000732353 RCV001700071

NM_000539.3(RHO):c.696+12G>A

SNV
Germline

Chr3:129532428

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607252

rs_55915536

2 SubmittersRCV000329636 RCV000386443 RCV001456280

NM_000539.3(RHO):c.959C>A (p.Thr320Asn)

SNV
Germline

Chr3:129533630

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided
RHO-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2607346

rs_138831590

5 SubmittersRCV000295474 RCV000380819 RCV001322065 RCV003401364 RCV004816589

NM_198506.5(LRIT3):c.966C>T (p.Asp322=)

SNV
Germline

Chr4:109869715

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3043106

rs_141753583

2 SubmittersRCV000314463 RCV006462498

NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln)

SNV
Germline

Chr4:654153

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794178

rs_145756948

3 SubmittersRCV000327738 RCV000382287 RCV001244128 RCV004955455

NM_000283.4(PDE6B):c.1083C>T (p.Ser361=)

SNV
Germline

Chr4:656268

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794333

rs_142802752

4 SubmittersRCV000314507 RCV000404989 RCV000906390

NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)

SNV
Germline

Chr4:657390

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794445

rs_539768252

3 SubmittersRCV000267066 RCV000361712 RCV001861237 RCV003243107

NM_000283.4(PDE6B):c.1590C>T (p.Val530=)

SNV
Germline

Chr4:660589

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794583

rs_202244041

3 SubmittersRCV000352811 RCV000388750 RCV002057943 RCV003888832

NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)

SNV
Germline

Chr4:625759

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793852

rs_138423108

3 SubmittersRCV000298325 RCV000341531 RCV003888829 RCV001320505

NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp)

SNV
Germline

Chr4:625830

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2793868

rs_200079698

3 SubmittersRCV000269946 RCV001211414 RCV000334160

NM_000283.4(PDE6B):c.270C>T (p.Asp90=)

SNV
Germline

Chr4:625896

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2793894

rs_80344633

5 SubmittersRCV000318799 RCV000375998 RCV000899653 RCV001699384

NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)

SNV
Germline

Chr4:634704

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2793981

rs_115775983

7 SubmittersRCV000350373 RCV000406027 RCV000958533 RCV003888830

NM_000283.4(PDE6B):c.789G>A (p.Thr263=)

SNV
Germline

Chr4:653929

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794119

rs_138789637

2 SubmittersRCV000342401 RCV000393014 RCV001451842

NM_000283.4(PDE6B):c.966C>T (p.His322=)

SNV
Germline

Chr4:654862

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794238

rs_143711050

2 SubmittersRCV000284445 RCV000378655 RCV000912271

NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)

SNV
Germline

Chr4:655973

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10619046

rs_754298712

2 SubmittersRCV000339413 RCV000407941 RCV002057942

NM_000283.4(PDE6B):c.1218C>T (p.Asp406=)

SNV
Germline

Chr4:656984

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794390

rs_148190219

3 SubmittersRCV000311133 RCV000365845 RCV000891594

NM_000283.4(PDE6B):c.1296C>T (p.Thr432=)

SNV
Germline

Chr4:657389

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794443

rs_114100439

3 SubmittersRCV000270690 RCV000325718 RCV000961040

NM_000283.4(PDE6B):c.1401+5G>A

SNV
Germline

Chr4:657499

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794473

rs_201623488

3 SubmittersRCV000322074 RCV000376740 RCV000909197

NM_000283.4(PDE6B):c.1635C>T (p.Phe545=)

SNV
Germline

Chr4:662154

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794626

rs_141813304

2 SubmittersRCV000309626 RCV000391217 RCV000966175

NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr)

SNV
Germline

Chr4:664190

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794844

rs_149880099

3 SubmittersRCV000262459 RCV000356608 RCV001067889 RCV003888834

NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)

SNV
Germline

Chr4:670090

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
PDE6B-related disorder

Criteria Provided
Conflicting Classifications

CA2795114

rs_141647790

6 SubmittersRCV000283346 RCV000338358 RCV000591409 RCV004021968 RCV004545766

NM_000283.4(PDE6B):c.*79A>G

SNV
Germline

Chr4:670186

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2795129

rs_753277194

1 SubmittersRCV000310856 RCV000404576

NM_144499.3(GNAT1):c.241G>A (p.Val81Ile)

SNV
Germline

Chr3:50193356

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2412489

rs_201849628

3 SubmittersRCV000361876 RCV001498016 RCV002520163

NM_144499.3(GNAT1):c.882C>T (p.Asp294=)

SNV
Germline

Chr3:50194784

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 3
Condition: not provided
GNAT1-related disorder

Criteria Provided
Conflicting Classifications

CA2412758

rs_775329814

3 SubmittersRCV000325576 RCV002057889 RCV003969997

NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln)

SNV
Germline

Chr3:50191808

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2412433

rs_149936603

3 SubmittersRCV000259457 RCV001437241

NM_198506.5(LRIT3):c.30C>A (p.Val10=)

SNV
Germline

Chr4:109848231

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided
LRIT3-related disorder

Criteria Provided
Conflicting Classifications

CA3042960

rs_373793629

3 SubmittersRCV000285500 RCV001514599 RCV003950223

NM_198506.5(LRIT3):c.1029G>T (p.Val343=)

SNV
Germline

Chr4:109869778

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3043118

rs_199943498

3 SubmittersRCV000274932 RCV001431994

NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala)

SNV
Germline

Chr4:109870194

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided
Inborn genetic diseases
LRIT3-related disorder

Criteria Provided
Conflicting Classifications

CA3043187

rs_75722024

4 SubmittersRCV000290383 RCV000885582 RCV003258786 RCV003932410

NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)

SNV
Germline

Chr4:625796

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793860

rs_149359860

2 SubmittersRCV000309731 RCV000362223 RCV001861233

NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)

SNV
Germline

Chr4:634690

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
High myopia

Criteria Provided
Conflicting Classifications

CA2793978

rs_574098823

3 SubmittersRCV000332008 RCV000288636 RCV001436063 RCV000785739

NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)

SNV
Germline

Chr4:635940

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794053

rs_201584824

2 SubmittersRCV000282880 RCV000379626 RCV001340998

NM_000283.4(PDE6B):c.699G>A (p.Thr233=)

SNV
Germline

Chr4:635957

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794056

rs_148264146

3 SubmittersRCV000310055 RCV000343932 RCV000895940 RCV003888831

NM_000283.4(PDE6B):c.1108-9C>T

SNV
Germline

Chr4:656865

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794363

rs_200970775

2 SubmittersRCV000369296 RCV000404686 RCV000884408

NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln)

SNV
Germline

Chr4:660591

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794585

rs_144664551

3 SubmittersRCV000349329 RCV000294425 RCV001240311 RCV003168538

NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp)

SNV
Germline

Chr4:663794

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Inborn genetic diseases
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794787

rs_768939011

4 SubmittersRCV000344856 RCV000402966 RCV002523475 RCV003888833 RCV005055918

NM_000283.4(PDE6B):c.2269-11C>T

SNV
Germline

Chr4:666520

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794987

rs_370169775

2 SubmittersRCV000383643 RCV000347789 RCV002057944

NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro)

SNV
Germline

Chr4:666555

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794998

rs_199521106

3 SubmittersRCV000303010 RCV000392694 RCV000931351 RCV003888835

NM_000283.4(PDE6B):c.2352+3G>A

SNV
Germline

Chr4:666617

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795017

rs_111504036

2 SubmittersRCV000274619 RCV000369235 RCV001044545

NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)

SNV
Germline

Chr4:653879

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Retinitis pigmentosa 40
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794105

rs_780521818

6 SubmittersRCV000377308 RCV000504695 RCV001376332 RCV001543444 RCV004816597

NM_000283.4(PDE6B):c.852+12G>A

SNV
Germline

Chr4:654004

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2794146

rs_201676629

2 SubmittersRCV000311171 RCV001513143 RCV000405497

NM_000283.4(PDE6B):c.1060-13G>A

SNV
Germline

Chr4:656232

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794329

rs_147482093

4 SubmittersRCV000335547 RCV000280451 RCV001518693

NM_000283.4(PDE6B):c.2352+13C>T

SNV
Germline

Chr4:666627

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795018

rs_374527841

2 SubmittersRCV000384343 RCV000329764 RCV002057945

NM_000283.4(PDE6B):c.2526C>T (p.Gly842=)

SNV
Germline

Chr4:670068

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795106

rs_61733857

3 SubmittersRCV000323274 RCV000378001 RCV001520398

NM_000283.3(PDE6B):c.*764G>A

SNV
Germline

Chr4:670871

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA10621527

rs_575639886

1 SubmittersRCV000259755 RCV000317306

NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=)

SNV
Germline

Chr15:31026144

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
TRPM1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7451825

rs_370122578

4 SubmittersRCV000345455 RCV001458374 RCV003940226 RCV005434817

NM_001252024.2(TRPM1):c.2778C>T (p.Leu926=)

SNV
Germline

Chr15:31032863

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452071

rs_761531039

2 SubmittersRCV000393444 RCV002056448

NM_001252024.2(TRPM1):c.1905C>T (p.His635=)

SNV
Germline

Chr15:31042133

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452366

rs_377099385

2 SubmittersRCV000328620 RCV001439942

NM_001252024.2(TRPM1):c.75C>T (p.Asp25=)

SNV
Germline

Chr15:31076913

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7453125

rs_777321357

2 SubmittersRCV000293039 RCV002520946

NM_001004334.4(GPR179):c.6475A>G (p.Lys2159Glu)

SNV
Germline

Chr17:38327094

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639544

rs_181844178

2 SubmittersRCV000360750 RCV002056578

NM_001004334.4(GPR179):c.6335C>T (p.Ala2112Val)

SNV
Germline

Chr17:38327234

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10639545

rs_542057732

3 SubmittersRCV000320359 RCV001519518 RCV004619259

NM_001004334.4(GPR179):c.991+4T>C

SNV
Germline

Chr17:38337629

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
GPR179-related disorder

Criteria Provided
Conflicting Classifications

CA10639555

rs_375898051

3 SubmittersRCV000358219 RCV002056588 RCV003922368

NM_001004334.4(GPR179):c.691C>T (p.Pro231Ser)

SNV
Germline

Chr17:38343099

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639556

rs_200731095

2 SubmittersRCV000386648 RCV001522219

NM_001004334.4(GPR179):c.663G>T (p.Val221=)

SNV
Germline

Chr17:38343127

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639557

rs_547308706

2 SubmittersRCV000289986 RCV002522952

NM_001252024.2(TRPM1):c.2088-8C>T

SNV
Germline

Chr15:31040354

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452316

rs_762208610

2 SubmittersRCV000268854 RCV001492753

NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=)

SNV
Germline

Chr15:31049492

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452558

rs_755094572

2 SubmittersRCV000301094 RCV002520945

NM_001252024.2(TRPM1):c.494-8G>A

SNV
Germline

Chr15:31067195

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452927

rs_757371423

2 SubmittersRCV000328344 RCV001360535

NM_001252024.2(TRPM1):c.493+13C>T

SNV
Germline

Chr15:31067866

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452940

rs_372144508

2 SubmittersRCV000376125 RCV002056449

NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)

SNV
Germline

Chr17:38327587

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10645544

rs_185715311

4 SubmittersRCV000316820 RCV000733442 RCV004816566

NM_001004334.4(GPR179):c.5350C>A (p.Pro1784Thr)

SNV
Germline

Chr17:38328219

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645551

rs_117255299

2 SubmittersRCV000398607 RCV002056579

NM_001004334.4(GPR179):c.4888G>A (p.Glu1630Lys)

SNV
Germline

Chr17:38328681

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
GPR179-related disorder

Criteria Provided
Conflicting Classifications

CA10645560

rs_149998444

3 SubmittersRCV000304495 RCV002056580 RCV003910228

NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)

SNV
Germline

Chr17:38329263

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10645561

rs_147966258

6 SubmittersRCV000301115 RCV000523161 RCV001729534

NM_001004334.4(GPR179):c.3518G>C (p.Ser1173Thr)

SNV
Germline

Chr17:38330051

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10645567

rs_565610587

3 SubmittersRCV000390385 RCV002061223 RCV002522948

NM_001004334.4(GPR179):c.2248T>A (p.Ser750Thr)

SNV
Germline

Chr17:38331321

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645573

rs_772088402

2 SubmittersRCV000320453 RCV002056586

NM_001004334.4(GPR179):c.1784+8C>T

SNV
Germline

Chr17:38334696

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645577

rs_137860025

2 SubmittersRCV000279321 RCV002056587

NM_001252024.2(TRPM1):c.3252C>T (p.Val1084=)

SNV
Germline

Chr15:31028373

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7451940

rs_773508261

3 SubmittersRCV000291658 RCV000934681

NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=)

SNV
Germline

Chr15:31047910

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452513

rs_368601558

2 SubmittersRCV000285916 RCV000905554

NM_001252024.2(TRPM1):c.942G>A (p.Ala314=)

SNV
Germline

Chr15:31063141

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452763

rs_768420045

2 SubmittersRCV000308547 RCV001468225

NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=)

SNV
Germline

Chr15:65650498

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10646471

rs_886051351

2 SubmittersRCV000396850 RCV001406907

NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=)

SNV
Germline

Chr15:65652779

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7620297

rs_201199381

2 SubmittersRCV000270986 RCV002056471

NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=)

SNV
Germline

Chr15:31002392

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7451669

rs_138216783

3 SubmittersRCV000354214 RCV000914171

NM_001252024.2(TRPM1):c.2268C>T (p.Thr756=)

SNV
Germline

Chr15:31040166

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452279

rs_756489745

2 SubmittersRCV000332003 RCV001424938

NM_001252024.2(TRPM1):c.378T>C (p.His126=)

SNV
Germline

Chr15:31067994

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452962

rs_769783908

2 SubmittersRCV000267503 RCV002056450

NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln)

SNV
Germline

Chr15:65624214

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10647276

rs_886051348

2 SubmittersRCV000312575 RCV002520969

NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=)

SNV
Germline

Chr15:65625898

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7619975

rs_368241269

2 SubmittersRCV000291320 RCV001464599

NM_004727.3(SLC24A1):c.1945-14C>G

SNV
Germline

Chr15:65639581

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7620043

rs_761704353

2 SubmittersRCV000351961 RCV002056469

NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)

SNV
Germline

Chr15:65645654

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
not specified
Condition: not provided
Inborn genetic diseases
SLC24A1-related disorder

Criteria Provided
Conflicting Classifications

CA7620113

rs_201943537

7 SubmittersRCV000336812 RCV000732305 RCV001522730 RCV002520971 RCV003940236

NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=)

SNV
Germline

Chr15:65650900

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided
SLC24A1-related disorder

Criteria Provided
Conflicting Classifications

CA7620191

rs_368057501

3 SubmittersRCV000359691 RCV002056470 RCV003940237

NM_001004334.4(GPR179):c.7035C>T (p.Gly2345=)

SNV
Germline

Chr17:38326534

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649149

rs_368426715

2 SubmittersRCV000393492 RCV002056575

NM_001004334.4(GPR179):c.6621C>T (p.Ser2207=)

SNV
Germline

Chr17:38326948

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649151

rs_781391422

2 SubmittersRCV000306010 RCV005055880

NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met)

SNV
Germline

Chr17:38328860

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10649156

rs_187512697

4 SubmittersRCV000264724 RCV000732414 RCV001520258 RCV006362272

NM_001004334.4(GPR179):c.3357G>A (p.Ala1119=)

SNV
Germline

Chr17:38330212

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649158

rs_547577586

2 SubmittersRCV000298512 RCV002056584

NM_001004334.4(GPR179):c.2556C>T (p.Leu852=)

SNV
Germline

Chr17:38331013

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649168

rs_777488974

2 SubmittersRCV000325746 RCV001448662

NM_001004334.4(GPR179):c.180C>T (p.Leu60=)

SNV
Germline

Chr17:38343610

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649175

rs_770286670

2 SubmittersRCV000359189 RCV002056591

NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)

SNV
Germline

Chr17:38327594

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
Retinitis pigmentosa
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10650013

rs_200936863

9 SubmittersRCV000625275 RCV000730168 RCV000787911 RCV001706517 RCV004816567

NM_001004334.4(GPR179):c.3900A>T (p.Ile1300=)

SNV
Germline

Chr17:38329669

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
GPR179-related disorder

Criteria Provided
Conflicting Classifications

CA10650017

rs_200167781

3 SubmittersRCV000333372 RCV002056581 RCV003940270

NM_001004334.4(GPR179):c.2895G>A (p.Leu965=)

SNV
Germline

Chr17:38330674

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650030

rs_200583958

2 SubmittersRCV000274012 RCV002056585

NM_001004334.4(GPR179):c.1723C>T (p.Arg575Cys)

SNV
Germline

Chr17:38334765

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650039

rs_200801090

2 SubmittersRCV000352780 RCV001519733

NM_001004334.4(GPR179):c.1417C>T (p.Leu473=)

SNV
Germline

Chr17:38335261

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
GPR179-related disorder

Criteria Provided
Conflicting Classifications

CA10650041

rs_762389933

3 SubmittersRCV000401589 RCV002522950 RCV003922367

NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg)

SNV
Germline

Chr17:38337651

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10650044

rs_200392643

5 SubmittersRCV000375619 RCV001795942 RCV002522951

NM_001004334.4(GPR179):c.522C>T (p.Ile174=)

SNV
Germline

Chr17:38343268

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650051

rs_377062748

2 SubmittersRCV000402255 RCV002056590

NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)

SNV
Unknown

ChrX:49230343

Pathogenic

Amblyopia
Myopia
Congenital stationary night blindness 2A

Criteria Provided
Single Submitter

CA16043594

rs_1057518829

1 SubmittersRCV000415143 RCV001199353

NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)

SNV
Germline

Chr4:660579

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794577

rs_760766981

9 SubmittersRCV000427120 RCV000504854 RCV000845026 RCV001154208 RCV004816655

NM_000539.3(RHO):c.491C>T (p.Ala164Val)

SNV
Germline

Chr3:129531005

Pathogenic/Likely pathogenic

Congenital stationary night blindness autosomal dominant 1
Cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16616904

rs_104893793

6 SubmittersRCV000477900 RCV000787681 RCV000787680 RCV001229601 RCV001265187 RCV003889904

NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)

SNV
Unknown

Chr1:94001914

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA341278240

rs_1553186509

1 SubmittersRCV000504998

NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)

SNV
Germline

Chr1:94042830

Pathogenic

Congenital stationary night blindness
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341292154

rs_61751398

2 SubmittersRCV000505122 RCV005407661

NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu)

SNV
Unknown

Chr15:31028451

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA391544081

rs_748046539

1 SubmittersRCV000504895

NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr)

SNV
Unknown

Chr15:31028470

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA391544183

rs_1555418784

1 SubmittersRCV000504632

NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg)

SNV
Unknown

Chr15:31063251

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA391529407

rs_1555424166

1 SubmittersRCV000505098

NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu)

SNV
Unknown

Chr15:31067992

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA391534736

rs_1555424849

1 SubmittersRCV000504718

NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)

SNV
Unknown

ChrX:49210636

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA412961013

rs_1557106008

1 SubmittersRCV000504818

NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)

SNV
Unknown

ChrX:49216438

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA412963971

rs_1557107417

1 SubmittersRCV000505176

NM_001256789.3(CACNA1F):c.2733+1G>A

SNV
Unknown

ChrX:49218881

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA412965008

rs_1557108147

1 SubmittersRCV000504722

NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)

SNV
Germline

ChrX:49230253

Pathogenic

Congenital stationary night blindness
Condition: not provided

Criteria Provided
Single Submitter

CA412924279

rs_1557110988

2 SubmittersRCV000505008 RCV001311072

NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter)

SNV
Germline

Chr15:31068090

Likely pathogenic

Congenital stationary night blindness 1C

No Assertion Criteria Provided

CA391535458

rs_372529012

1 SubmittersRCV000505592

NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)

SNV
Germline

Chr3:50194806

Pathogenic/Likely pathogenic

Congenital stationary night blindness 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2412765

rs_374913800

3 SubmittersRCV000578484 RCV001237857

NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter)

SNV
Germline

Chr15:65650550

Pathogenic

Congenital stationary night blindness 1D

No Assertion Criteria Provided

CA392899198

rs_1410075831

1 SubmittersRCV000579382

NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)

SNV
Germline

Chr17:38328511

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1E

Criteria Provided
Conflicting Classifications

CA290103778

rs_376750375

3 SubmittersRCV000594060 RCV001125926

NM_004727.3(SLC24A1):c.95T>A (p.Leu32Ter)

SNV
Germline

Chr15:65624175

Pathogenic

Retinitis pigmentosa
Congenital stationary night blindness 1D

Criteria Provided
Single Submitter

CA392912392

rs_1566945534

2 SubmittersRCV000678630 RCV005253062

NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)

SNV
Germline

ChrX:49210604

Pathogenic

Congenital stationary night blindness 2A
Cone-rod dystrophy
Optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10410201

rs_782581701

3 SubmittersRCV000754588 RCV003324533 RCV004817949

NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)

SNV
Germline

Chr15:31035551

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness 1C
Congenital stationary night blindness

Criteria Provided
Multiple Submitters
No Conflicts

CA391546645

rs_1485132228

4 SubmittersRCV000729014 RCV000785957 RCV001003230

NM_001378477.3(NYX):c.567C>A (p.Ile189=)

SNV
Germline

ChrX:41474035

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1A

Criteria Provided
Conflicting Classifications

CA10389837

rs_746383908

4 SubmittersRCV000732111 RCV001168944

NM_001252024.2(TRPM1):c.279+147T>G

SNV
Germline

Chr15:31069884

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C

Criteria Provided
Conflicting Classifications

CA7453018

rs_150441866

3 SubmittersRCV000761362

NM_001256789.3(CACNA1F):c.2086-2A>G

SNV
Germline

ChrX:49222840

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness
X-linked cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412911240

rs_1358925739

3 SubmittersRCV000762638 RCV001199446 RCV005601094

NM_000539.3(RHO):c.1025C>T (p.Thr342Met)

SNV
Germline

Chr3:129533696

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA2607366

rs_183318466

3 SubmittersRCV001090667 RCV001150104

NM_001252024.2(TRPM1):c.3148+1G>A

SNV
Germline

Chr15:31029370

Pathogenic/Likely pathogenic

Congenital stationary night blindness 1C
Condition: not provided
TRPM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7451970

rs_779821510

3 SubmittersRCV000778427 RCV002536729 RCV003411717

NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)

SNV
Germline

Chr13:113733073

Likely pathogenic

Congenital stationary night blindness
Oguchi disease-2

No Assertion Criteria Provided

CA388819950

rs_1594580431

2 SubmittersRCV000787607 RCV001175404

NM_000843.4(GRM6):c.2003T>C (p.Leu668Pro)

SNV
Germline

Chr5:178986251

Pathogenic

Congenital stationary night blindness
Condition: not provided

Criteria Provided
Single Submitter

CA3593863

rs_777168556

2 SubmittersRCV000787912 RCV001869197

NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter)

SNV
Germline

Chr15:31042072

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA7452358

rs_763546583

2 SubmittersRCV000799664 RCV003133622

NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp)

SNV
Germline

Chr4:109867784

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3043054

rs_538101562

3 SubmittersRCV000844916 RCV001398189

NM_001252024.2(TRPM1):c.2514C>T (p.Ile838=)

SNV
Germline

Chr15:31037768

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Conflicting Classifications

CA7452175

rs_376705938

2 SubmittersRCV000880300 RCV001120284

NM_001252024.2(TRPM1):c.600A>G (p.Glu200=)

SNV
Germline

Chr15:31067081

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7452899

rs_200934141

5 SubmittersRCV000879890 RCV001120189 RCV001701343 RCV004818073

NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=)

SNV
Germline

Chr15:65625733

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1D

Criteria Provided
Conflicting Classifications

CA7619951

rs_181942192

2 SubmittersRCV000885628 RCV001118670

NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)

SNV
Germline

Chr4:658964

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
PDE6B-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794512

rs_143908642

4 SubmittersRCV000895003 RCV001151136 RCV001151137 RCV004530995 RCV004958238

NM_198506.5(LRIT3):c.222G>A (p.Ala74=)

SNV
Germline

Chr4:109851609

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1F

Criteria Provided
Conflicting Classifications

CA3042978

rs_148450929

2 SubmittersRCV000912894 RCV001149184

NM_198506.5(LRIT3):c.1644G>A (p.Gly548=)

SNV
Germline

Chr4:109870393

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1F

Criteria Provided
Conflicting Classifications

CA3043233

rs_528069315

2 SubmittersRCV000922187 RCV001144684

NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)

SNV
Germline

Chr4:662565

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2794678

rs_769147926

2 SubmittersRCV000936533 RCV001155048 RCV001155049

NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val)

SNV
Germline

Chr15:31067079

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Conflicting Classifications

CA7452898

rs_761283836

2 SubmittersRCV000939945 RCV001116913

NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)

SNV
Germline

ChrX:41474847

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10389948

rs_374968384

3 SubmittersRCV000934197 RCV001166053 RCV002542286

NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe)

SNV
Germline

ChrX:49206611

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness

Criteria Provided
Conflicting Classifications

CA412958029

rs_1602621312

3 SubmittersRCV000999426 RCV001199447

NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His)

SNV
Germline

Chr15:31031093

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452004

rs_775810789

2 SubmittersRCV001002704 RCV001869433

NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)

SNV
Germline

Chr15:31035613

Pathogenic/Likely pathogenic

Congenital stationary night blindness
TRPM1-related disorder
Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7452120

rs_765645888

4 SubmittersRCV001003231 RCV003413796 RCV005359738 RCV006464956

NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)

SNV
Germline

Chr15:31063137

Pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA391527889

rs_1596029830

1 SubmittersRCV001003233

NM_001378477.3(NYX):c.481G>C (p.Ala161Pro)

SNV
Germline

ChrX:41473949

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA412990548

rs_1602180478

1 SubmittersRCV001003099

NM_001378477.3(NYX):c.782T>C (p.Leu261Pro)

SNV
Germline

ChrX:41474250

Pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA412991245

rs_1602180791

1 SubmittersRCV001003100

NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)

SNV
Germline

ChrX:41474471

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA412992096

rs_1602181006

1 SubmittersRCV001003101

NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)

SNV
Germline

ChrX:49210621

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA412960984

rs_1602627593

1 SubmittersRCV001002910

NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)

SNV
Germline

ChrX:49211947

Pathogenic

Congenital stationary night blindness
Condition: not provided
X-linked cone-rod dystrophy 3
Optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10410278

rs_782740998

5 SubmittersRCV001002912 RCV001212865 RCV002286797 RCV004818137

NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)

SNV
Germline

ChrX:49212688

Pathogenic

Congenital stationary night blindness
Congenital stationary night blindness 2A

No Assertion Criteria Provided

CA412962256

rs_1602630650

2 SubmittersRCV001002913 RCV001270458

NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter)

SNV
Germline

ChrX:49219707

Pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA412965619

rs_1602641426

1 SubmittersRCV001002916

NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)

SNV
Germline

ChrX:49222585

Pathogenic

Congenital stationary night blindness
Condition: not provided

Criteria Provided
Single Submitter

CA412909826

rs_1602644716

2 SubmittersRCV001002917 RCV003558628

NM_001256789.3(CACNA1F):c.4261-9G>A

SNV
Germline

ChrX:49211101

Likely pathogenic

Congenital stationary night blindness

No Assertion Criteria Provided

CA915951053

rs_1602628429

1 SubmittersRCV001002911

NM_001256789.3(CACNA1F):c.1118+1G>C

SNV
Germline

ChrX:49228035

Pathogenic

Congenital stationary night blindness
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412919558

rs_2065841382

2 SubmittersRCV001199448 RCV001091928

NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys)

SNV
Germline

Chr15:31049487

Likely pathogenic

Congenital stationary night blindness 1C

No Assertion Criteria Provided

CA391517070

rs_1596017653

1 SubmittersRCV001029885

NM_000539.3(RHO):c.310G>A (p.Val104Ile)

SNV
Germline

Chr3:129529043

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary retinal dystrophy
Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa 4
Retinal dystrophy
RHO-related disorder

Criteria Provided
Conflicting Classifications

CA2607107

rs_144317206

4 SubmittersRCV001067390 RCV002482112 RCV003890221 RCV004756165

NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)

SNV
Germline

Chr3:50193573

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 3
Congenital stationary night blindness 1G

Criteria Provided
Conflicting Classifications

CA2412540

rs_778497200

4 SubmittersRCV001060334 RCV001593238 RCV005866781

NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys)

SNV
Germline

Chr4:625846

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
PDE6B-related disorder
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA2793876

rs_144590560

4 SubmittersRCV001040277 RCV001156702 RCV001156703 RCV004740547 RCV005394667

NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)

SNV
Germline

Chr4:662143

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA2794623

rs_760042062

4 SubmittersRCV001053317 RCV001074240 RCV002479325

NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met)

SNV
Germline

Chr4:662222

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794637

rs_369980987

3 SubmittersRCV001046319 RCV001155046 RCV001155047 RCV004031433

NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr)

SNV
Germline

Chr4:663845

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794799

rs_779474710

2 SubmittersRCV001151261 RCV001151262 RCV001054297

NM_000843.4(GRM6):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr5:178986213

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness

Criteria Provided
Multiple Submitters
No Conflicts

CA3593850

rs_769355168

2 SubmittersRCV001056875 RCV004017782

NM_000843.4(GRM6):c.2029C>T (p.Arg677Cys)

SNV
Germline

Chr5:178986225

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1B

Criteria Provided
Conflicting Classifications

CA3593853

rs_138551288

2 SubmittersRCV001035480 RCV005400482

NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr)

SNV
Germline

Chr15:31040285

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Conflicting Classifications

CA7452297

rs_138944426

3 SubmittersRCV001063059 RCV001118550

NM_000283.4(PDE6B):c.2193+5G>A

SNV
Germline

Chr4:664949

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2794920

rs_576895229

2 SubmittersRCV001043784 RCV001155157 RCV001155158

NM_000539.3(RHO):c.328T>C (p.Cys110Arg)

SNV
Germline

Chr3:129529061

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 4
Condition: not provided
Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA354496911

rs_1578278438

5 SubmittersRCV001075603 RCV001265180 RCV001389459 RCV001542565 RCV003324555

NM_000539.3(RHO):c.551A>G (p.Gln184Arg)

SNV
Germline

Chr3:129532271

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa 4
Pigmentary retinal dystrophy
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354499186

rs_1402468701

6 SubmittersRCV001075493 RCV001337215 RCV001535689 RCV002249673 RCV003447316

NM_000539.3(RHO):c.647T>A (p.Met216Lys)

SNV
Germline

Chr3:129532367

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA354469952

rs_984572250

7 SubmittersRCV001073436 RCV001090666 RCV001265200 RCV001542566

NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)

SNV
Germline

Chr4:663803

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA2794791

rs_373037737

6 SubmittersRCV001074165 RCV001382538 RCV001724236 RCV001376495 RCV002497489

NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly)

SNV
Germline

ChrX:49210328

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Congenital stationary night blindness 2A

Criteria Provided
Conflicting Classifications

CA412960741

rs_1335615080

3 SubmittersRCV001074558 RCV001370310 RCV003389485

NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)

SNV
Germline

ChrX:49216465

Likely pathogenic

Congenital stationary night blindness 2A
Retinal dystrophy

Criteria Provided
Single Submitter

CA412964041

rs_2065717735

2 SubmittersRCV001270456 RCV001075550

NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=)

SNV
Germline

Chr15:31001945

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA7451582

rs_201668928

3 SubmittersRCV001118361 RCV001443347 RCV003973086

NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys)

SNV
Germline

Chr15:31002199

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA7451630

rs_561717036

3 SubmittersRCV001119897 RCV001473481 RCV004753212

NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu)

SNV
Germline

Chr15:31026205

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7451844

rs_577672274

2 SubmittersRCV001115312 RCV001523169

NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=)

SNV
Germline

Chr15:31032764

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452053

rs_370822722

2 SubmittersRCV001119983 RCV001451348

NM_001252024.2(TRPM1):c.2496A>G (p.Lys832=)

SNV
Germline

Chr15:31037786

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452178

rs_34915313

2 SubmittersRCV001120285 RCV001465784

NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=)

SNV
Germline

Chr15:31037822

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7452184

rs_185129255

4 SubmittersRCV001120286 RCV001396784 RCV001701287

NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=)

SNV
Germline

Chr15:31040166

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA489345619

rs_756489745

2 SubmittersRCV001118547 RCV005093534

NM_001252024.2(TRPM1):c.2246C>G (p.Thr749Ser)

SNV
Germline

Chr15:31040188

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452283

rs_371356729

2 SubmittersRCV001118548 RCV002069919

NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=)

SNV
Germline

Chr15:31040265

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452293

rs_370305789

2 SubmittersRCV001118549 RCV001407114

NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=)

SNV
Germline

Chr15:31042148

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA7452369

rs_369315253

3 SubmittersRCV001120077 RCV001422543 RCV003953496

NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr)

SNV
Germline

Chr15:31060552

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
Inborn genetic diseases
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA7452638

rs_201213623

6 SubmittersRCV001115494 RCV001487567 RCV002556269 RCV003963057

NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=)

SNV
Germline

Chr15:31062579

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA7452707

rs_202130526

3 SubmittersRCV001116909 RCV002069889 RCV003906218

NM_001252024.2(TRPM1):c.795G>C (p.Leu265=)

SNV
Germline

Chr15:31063288

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA7452798

rs_371394864

3 SubmittersRCV001116910 RCV001422008 RCV003906219

NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)

SNV
Germline

Chr15:31067130

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
Melanoma

Criteria Provided
Conflicting Classifications

CA7452913

rs_188852505

6 SubmittersRCV001120190 RCV001359940 RCV005913769

NM_004727.3(SLC24A1):c.175C>G (p.Pro59Ala)

SNV
Germline

Chr15:65624255

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7619704

rs_533092441

2 SubmittersRCV001115605 RCV001501016

NM_004727.3(SLC24A1):c.309A>G (p.Thr103=)

SNV
Germline

Chr15:65624389

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7619733

rs_375495390

2 SubmittersRCV001115607 RCV001504521

NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=)

SNV
Germline

Chr15:65625622

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7619930

rs_372658740

2 SubmittersRCV001118669 RCV001414433

NM_004727.3(SLC24A1):c.1911G>A (p.Ala637=)

SNV
Germline

Chr15:65638148

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7620014

rs_372995067

2 SubmittersRCV001120607 RCV002069964

NM_004727.3(SLC24A1):c.2166G>A (p.Ala722=)

SNV
Germline

Chr15:65645637

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7620109

rs_565350549

2 SubmittersRCV001115693 RCV002069859

NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=)

SNV
Germline

Chr15:65645697

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7620116

rs_372137068

2 SubmittersRCV001115694 RCV001308408

NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile)

SNV
Germline

Chr15:65651714

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7620229

rs_760348512

3 SubmittersRCV001118755 RCV001856559 RCV004960470

NM_004727.3(SLC24A1):c.3058G>A (p.Val1020Ile)

SNV
Germline

Chr15:65653837

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided
SLC24A1-related disorder

Criteria Provided
Conflicting Classifications

CA7620318

rs_375878760

3 SubmittersRCV001120696 RCV001455633 RCV004754693

NM_004727.3(SLC24A1):c.3072T>C (p.Leu1024=)

SNV
Germline

Chr15:65653851

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7620320

rs_139757342

2 SubmittersRCV001120697 RCV002556595

NM_001252024.2(TRPM1):c.3294-15G>A

SNV
Germline

Chr15:31027132

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7451909

rs_376352901

2 SubmittersRCV001118466 RCV002069916

NM_001252024.2(TRPM1):c.2440-12T>A

SNV
Germline

Chr15:31037854

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7452190

rs_200151910

2 SubmittersRCV001120287 RCV001523241

NM_001252024.2(TRPM1):c.1795-8C>G

SNV
Germline

Chr15:31042251

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1C
Condition: not provided
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA7452398

rs_183856964

5 SubmittersRCV001120078 RCV001421582 RCV003963066

NM_004727.3(SLC24A1):c.1891-6T>C

SNV
Germline

Chr15:65638122

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided
SLC24A1-related disorder

Criteria Provided
Conflicting Classifications

CA7620003

rs_372058206

4 SubmittersRCV001120605 RCV001411743 RCV003945833

NM_004727.3(SLC24A1):c.2794-11C>A

SNV
Germline

Chr15:65651659

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271572135

rs_879718216

2 SubmittersRCV001118754 RCV002069925

NM_004727.3(SLC24A1):c.2884-9G>A

SNV
Germline

Chr15:65652633

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7620272

rs_374590721

2 SubmittersRCV001118756 RCV001461262

NM_001004334.4(GPR179):c.5905G>A (p.Val1969Ile)

SNV
Germline

Chr17:38327664

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
GPR179-related disorder

Criteria Provided
Conflicting Classifications

CA290103249

rs_144104172

3 SubmittersRCV001122171 RCV002069987 RCV003938472

NM_001004334.4(GPR179):c.5868C>T (p.Ser1956=)

SNV
Germline

Chr17:38327701

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290103270

rs_202228440

3 SubmittersRCV001124946 RCV001469156

NM_001004334.4(GPR179):c.5859G>A (p.Glu1953=)

SNV
Germline

Chr17:38327710

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290103275

rs_370586289

2 SubmittersRCV001124947 RCV002070035

NM_001004334.4(GPR179):c.5416G>A (p.Ala1806Thr)

SNV
Germline

Chr17:38328153

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290103567

rs_201654499

2 SubmittersRCV001125923 RCV001509654

NM_001004334.4(GPR179):c.4188A>G (p.Gln1396=)

SNV
Germline

Chr17:38329381

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
GPR179-related disorder

Criteria Provided
Conflicting Classifications

CA290104342

rs_201368251

3 SubmittersRCV001122267 RCV002069988 RCV003938473

NM_001004334.4(GPR179):c.4047G>A (p.Ala1349=)

SNV
Germline

Chr17:38329522

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290104455

rs_201461684

2 SubmittersRCV001122273 RCV002069990

NM_001004334.4(GPR179):c.3411G>A (p.Ala1137=)

SNV
Germline

Chr17:38330158

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290105128

rs_539071271

2 SubmittersRCV001122379 RCV002069993

NM_001004334.4(GPR179):c.3349G>A (p.Gly1117Arg)

SNV
Germline

Chr17:38330220

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290105200

rs_771334464

3 SubmittersRCV001122382 RCV001856611 RCV004032237

NM_001004334.4(GPR179):c.3348C>T (p.Ser1116=)

SNV
Germline

Chr17:38330221

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290105203

rs_78284900

2 SubmittersRCV001122383 RCV002069994

NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln)

SNV
Germline

Chr17:38331156

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290105860

rs_199619898

3 SubmittersRCV001126137 RCV001512848

NM_001004334.4(GPR179):c.1947C>T (p.Asp649=)

SNV
Germline

Chr17:38333341

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290106860

rs_372049950

2 SubmittersRCV001128224 RCV002070493

NM_001004334.4(GPR179):c.1533C>T (p.Gly511=)

SNV
Germline

Chr17:38335145

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290108660

rs_200421731

2 SubmittersRCV001122493 RCV002069998

NM_001004334.4(GPR179):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr17:38335212

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290108706

rs_551972571

3 SubmittersRCV001125277 RCV001856644 RCV005841709

NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val)

SNV
Germline

Chr17:38337072

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290109367

rs_192426710

6 SubmittersRCV001126249 RCV001512849 RCV002556740

NM_001004334.4(GPR179):c.976G>A (p.Ala326Thr)

SNV
Germline

Chr17:38337648

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290109620

rs_201963254

2 SubmittersRCV001126252 RCV002070063

NM_001004334.4(GPR179):c.858A>G (p.Pro286=)

SNV
Germline

Chr17:38339462

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290110162

rs_758285150

2 SubmittersRCV001128302 RCV003708575

NM_001004334.4(GPR179):c.489C>T (p.Ala163=)

SNV
Germline

Chr17:38343301

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290111594

rs_749471277

2 SubmittersRCV001123665 RCV002070018

NM_000539.3(RHO):c.62G>A (p.Arg21His)

SNV
Germline

Chr3:129528795

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607052

rs_552455660

2 SubmittersRCV001145549 RCV001145548 RCV001858954

NM_000539.3(RHO):c.399C>A (p.Ile133=)

SNV
Germline

Chr3:129530913

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA2607150

rs_372812523

3 SubmittersRCV001148423 RCV001148424 RCV001324702 RCV001535704

NM_000539.3(RHO):c.630C>T (p.Val210=)

SNV
Germline

Chr3:129532350

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607227

rs_371192803

2 SubmittersRCV001143872 RCV001150000 RCV001423121

NM_000539.3(RHO):c.732G>A (p.Gln244=)

SNV
Germline

Chr3:129532568

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607276

rs_148222991

2 SubmittersRCV001145772 RCV001145773 RCV002070760

NM_000539.3(RHO):c.744G>A (p.Lys248=)

SNV
Germline

Chr3:129532580

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607278

rs_141185480

3 SubmittersRCV001145774 RCV001145775 RCV001311612

NM_000539.3(RHO):c.948C>T (p.Cys316=)

SNV
Germline

Chr3:129533619

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA2607343

rs_754809715

1 SubmittersRCV001148539 RCV001148540

NM_000539.3(RHO):c.*959A>G

SNV
Germline

Chr3:129534677

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA82621833

rs_368910470

1 SubmittersRCV001253990 RCV001253989

NM_144499.3(GNAT1):c.165C>T (p.Asp55=)

SNV
Germline

Chr3:50193280

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2412477

rs_776566245

2 SubmittersRCV001149175 RCV002070809

NM_198506.5(LRIT3):c.99T>C (p.Asn33=)

SNV
Germline

Chr4:109848300

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA103728507

rs_1054476083

2 SubmittersRCV001146146 RCV001465159

NM_198506.5(LRIT3):c.327G>A (p.Glu109=)

SNV
Germline

Chr4:109851714

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided
LRIT3-related disorder

Criteria Provided
Conflicting Classifications

CA103732026

rs_992042707

3 SubmittersRCV001149185 RCV002070810 RCV003953531

NM_198506.5(LRIT3):c.492A>G (p.Arg164=)

SNV
Germline

Chr4:109851879

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA103732121

rs_890325688

2 SubmittersRCV001150694 RCV003737002

NM_198506.5(LRIT3):c.1677G>A (p.Val559=)

SNV
Germline

Chr4:109870426

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3043240

rs_762638752

2 SubmittersRCV001144685 RCV002070744

NM_000539.3(RHO):c.361+10G>A

SNV
Germline

Chr3:129529104

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2607122

rs_372128112

3 SubmittersRCV001145667 RCV001145666 RCV002070759 RCV004813800

NM_000539.3(RHO):c.697-11G>A

SNV
Germline

Chr3:129532522

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607270

rs_367631575

2 SubmittersRCV001143874 RCV001143873 RCV002070735

NM_144499.3(GNAT1):c.149+8C>A

SNV
Germline

Chr3:50193183

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139658078

rs_1699440055

2 SubmittersRCV001149174 RCV002559435

NM_000283.4(PDE6B):c.59G>A (p.Arg20His)

SNV
Germline

Chr4:625685

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2793834

rs_781251175

3 SubmittersRCV001151131 RCV001151130 RCV001301724 RCV004032791

NM_000283.4(PDE6B):c.285C>T (p.Phe95=)

SNV
Germline

Chr4:625911

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793898

rs_746211772

2 SubmittersRCV001151253 RCV001156705 RCV001454853

NM_000283.4(PDE6B):c.297G>A (p.Gln99=)

SNV
Germline

Chr4:625923

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793902

rs_768652560

2 SubmittersRCV001151254 RCV001151255 RCV002070829

NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys)

SNV
Germline

Chr4:625924

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793903

rs_537263212

2 SubmittersRCV001151256 RCV001151257 RCV002070830

NM_000283.4(PDE6B):c.316C>T (p.Leu106=)

SNV
Germline

Chr4:625942

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793910

rs_752429712

2 SubmittersRCV001151260 RCV001151259 RCV002557261

NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu)

SNV
Germline

Chr4:625970

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2793914

rs_189172362

3 SubmittersRCV001154323 RCV001154324 RCV002032423 RCV004032810

NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)

SNV
Germline

Chr4:654863

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794239

rs_140224236

4 SubmittersRCV001154093 RCV001154092 RCV001394923 RCV003890311

NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=)

SNV
Germline

Chr4:660505

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794565

rs_750323428

2 SubmittersRCV001154207 RCV001154206 RCV002070884

NM_000283.4(PDE6B):c.1805G>A (p.Arg602His)

SNV
Germline

Chr4:662591

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA2794685

rs_752846577

4 SubmittersRCV001156706 RCV001156707 RCV001301231 RCV003890313 RCV005394771

NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)

SNV
Germline

Chr4:663163

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA437900505

rs_1737323722

2 SubmittersRCV001156710 RCV001156711 RCV001615127

NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu)

SNV
Germline

Chr4:667973

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795068

rs_138682290

2 SubmittersRCV001154418 RCV001154417 RCV001209911

NM_000283.4(PDE6B):c.*474C>G

SNV
Germline

Chr4:670581

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA91097061

rs_577140751

1 SubmittersRCV001157028 RCV001157029

NM_000283.4(PDE6B):c.2352+14G>A

SNV
Germline

Chr4:666628

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795019

rs_752968664

2 SubmittersRCV001151392 RCV001151391 RCV002557265

NM_000283.4(PDE6B):c.2353-13C>T

SNV
Germline

Chr4:667843

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795034

rs_369466418

2 SubmittersRCV001151394 RCV001151393 RCV002070834

NM_001378477.3(NYX):c.645C>G (p.Ala215=)

SNV
Germline

ChrX:41474113

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA329217054

rs_924692905

2 SubmittersRCV001168945 RCV002068035

NM_001252024.2(TRPM1):c.941C>A (p.Ala314Glu)

SNV
Germline

Chr15:31063142

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Conflicting Classifications

CA7452764

rs_763506869

2 SubmittersRCV001220836 RCV005860194

NM_001252024.2(TRPM1):c.1623+1G>A

SNV
Germline

Chr15:31047888

Likely pathogenic

Intellectual disability
Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

CA391515691

rs_2033825467

1 SubmittersRCV001255343 RCV001262194

NM_000539.3(RHO):c.362G>T (p.Gly121Val)

SNV
Germline

Chr3:129530876

Likely pathogenic

Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Single Submitter

CA354497833

rs_2084774644

1 SubmittersRCV001265183 RCV001265184

NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)

SNV
Germline

ChrX:49206537

Pathogenic

Congenital stationary night blindness 2A
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10409977

rs_782034481

4 SubmittersRCV001270461 RCV003558787 RCV005910801

NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)

SNV
Germline

ChrX:49216436

Likely pathogenic

Congenital stationary night blindness 2A

No Assertion Criteria Provided

CA412963968

rs_2065717075

1 SubmittersRCV001270460

NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)

SNV
Germline

ChrX:49223032

Likely pathogenic

Congenital stationary night blindness 2A

No Assertion Criteria Provided

CA412912239

rs_2065788651

1 SubmittersRCV001270459

NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)

SNV
Germline

ChrX:49231708

Conflicting classifications of pathogenicity

Congenital stationary night blindness 2A
Condition: not provided
Aland island eye disease
CACNA1F-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA412927194

rs_2065880189

6 SubmittersRCV001270455 RCV001751538 RCV002290679 RCV005866915 RCV004815273

NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)

SNV
Germline

Chr3:50193388

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness autosomal dominant 3
Congenital stationary night blindness 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA2412494

rs_143481438

2 SubmittersRCV001388651 RCV002476734

NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)

SNV
Germline

Chr4:662584

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA2794682

rs_764605140

5 SubmittersRCV001382537 RCV001702590 RCV002272466

NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)

SNV
Germline

Chr5:178988953

Pathogenic

Condition: not provided
Congenital stationary night blindness 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA3594121

rs_764476239

2 SubmittersRCV001385681 RCV001810046

NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)

SNV
Germline

Chr15:31037739

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA7452166

rs_180869804

2 SubmittersRCV001385696 RCV002488206

NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)

SNV
Germline

Chr15:65639613

Pathogenic

Condition: not provided
Congenital stationary night blindness 1D
SLC24A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7620046

rs_201452975

4 SubmittersRCV001380449 RCV002488199 RCV004754746

NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)

SNV
Germline

ChrX:49217915

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness 2A
X-linked cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412964355

rs_1249437161

5 SubmittersRCV001388117 RCV002272468 RCV005253837

NM_001004334.4(GPR179):c.619G>C (p.Gly207Arg)

SNV
Germline

Chr17:38343171

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA398888846

rs_1329542100

2 SubmittersRCV001732863 RCV005094917

NM_000843.4(GRM6):c.722-1G>T

SNV
Germline

Chr5:178991560

Pathogenic

Congenital stationary night blindness 1B

Criteria Provided
Single Submitter

CA3594370

rs_766594761

1 SubmittersRCV001783402

NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)

SNV
Germline

Chr4:109867747

Pathogenic

Congenital stationary night blindness 1F

Criteria Provided
Single Submitter

CA357867036

rs_2125900955

1 SubmittersRCV001783612

NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)

SNV
Germline

Chr15:31042025

Pathogenic

Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

CA391511397

rs_1195734631

1 SubmittersRCV001785091

NM_001004334.4(GPR179):c.481C>T (p.Gln161Ter)

SNV
Germline

Chr17:38343309

Likely pathogenic

Congenital stationary night blindness 1E

Criteria Provided
Single Submitter

rs_768765919

1 SubmittersRCV004797250

NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr17:38343642

Likely pathogenic

Congenital stationary night blindness 1E

Criteria Provided
Single Submitter

CA290111916

rs_767430727

1 SubmittersRCV001782229

NM_001252024.2(TRPM1):c.3496+2T>C

SNV
Germline

Chr15:31026913

Likely pathogenic

Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

CA7451872

rs_773030662

1 SubmittersRCV001783914

NM_004727.3(SLC24A1):c.2884-1G>C

SNV
Germline

Chr15:65652641

Likely pathogenic

Congenital stationary night blindness 1D
Condition: not provided
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA7620273

rs_766014688

3 SubmittersRCV001807971 RCV001869576 RCV005922636

NM_000843.4(GRM6):c.575G>A (p.Arg192Gln)

SNV
Germline

Chr5:178992013

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1B

Criteria Provided
Conflicting Classifications

CA3594487

rs_757057677

2 SubmittersRCV001955720 RCV005400525

NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)

SNV
Germline

Chr4:625888

Pathogenic

Condition: not provided
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

CA91052133

rs_970768801

2 SubmittersRCV001894137 RCV002503398

NM_001252024.2(TRPM1):c.3127+1G>A

SNV
Germline

Chr15:31030982

Pathogenic

Condition: not provided
Retinal dystrophy
Congenital stationary night blindness 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA7451988

rs_749930261

3 SubmittersRCV002027062 RCV004816930 RCV006257349

NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)

SNV
Germline

Chr17:38334821

Pathogenic

Congenital stationary night blindness 1E

Criteria Provided
Single Submitter

CA398886249

rs_2037388948

1 SubmittersRCV002283613

NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)

SNV
Germline

Chr17:38337666

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness 1E
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA290109636

rs_768587459

3 SubmittersRCV002581055 RCV005412425 RCV004817053

NM_001004334.4(GPR179):c.3049C>T (p.Arg1017Ter)

SNV
Germline

Chr17:38330520

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1E

Criteria Provided
Conflicting Classifications

CA290105404

rs_1023039979

2 SubmittersRCV002908402 RCV005356212

NM_001252024.2(TRPM1):c.83+1G>A

SNV
Germline

Chr15:31076904

Likely pathogenic

Condition: not provided
Congenital stationary night blindness 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA7453123

rs_747553429

2 SubmittersRCV003032660 RCV005631085

NM_000843.4(GRM6):c.340C>T (p.Gln114Ter)

SNV
Germline

Chr5:178994605

Likely pathogenic

Congenital stationary night blindness 1B

Criteria Provided
Single Submitter

CA362436166

rs_1304183009

1 SubmittersRCV003447881

NM_004727.3(SLC24A1):c.2983C>T (p.Arg995Ter)

SNV
Germline

Chr15:65652741

Pathogenic/Likely pathogenic

Condition: not provided
Congenital stationary night blindness 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA7620290

rs_762665302

2 SubmittersRCV003840116 RCV005631252

NM_000843.4(GRM6):c.2497G>C (p.Gly833Arg)

SNV
Germline

Chr5:178981794

Likely pathogenic

Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

1 SubmittersRCV004765409

NM_001252024.2(TRPM1):c.2373T>A (p.Tyr791Ter)

SNV
Germline

Chr15:31038110

Pathogenic

Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

1 SubmittersRCV004765454

NM_144499.3(GNAT1):c.98T>C (p.Leu33Pro)

SNV
Germline

Chr3:50191823

Likely pathogenic

Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

1 SubmittersRCV004768482

NM_144499.3(GNAT1):c.124A>G (p.Lys42Glu)

SNV
Germline

Chr3:50193150

Likely pathogenic

Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

1 SubmittersRCV004771604

NM_001252024.2(TRPM1):c.274G>C (p.Ala92Pro)

SNV
Germline

Chr15:31070036

Likely pathogenic

Congenital stationary night blindness 1C

Criteria Provided
Single Submitter

1 SubmittersRCV004775651

NM_000843.4(GRM6):c.2560C>T (p.Arg854Ter)

SNV
Germline

Chr5:178981731

Likely pathogenic

Congenital stationary night blindness 1B

Criteria Provided
Single Submitter

1 SubmittersRCV004785845

NM_001004334.4(GPR179):c.951C>A (p.Cys317Ter)

SNV
Germline

Chr17:38337673

Likely pathogenic

Congenital stationary night blindness 1E

Criteria Provided
Single Submitter

1 SubmittersRCV004795876

NM_001004334.4(GPR179):c.3238C>T (p.Gln1080Ter)

SNV
Germline

Chr17:38330331

Likely pathogenic

Congenital stationary night blindness 1E

Criteria Provided
Single Submitter

1 SubmittersRCV005362001

NM_004727.3(SLC24A1):c.1749G>A (p.Trp583Ter)

SNV
Germline

Chr15:65625829

Likely pathogenic

Congenital stationary night blindness 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005631491

NM_001256789.3(CACNA1F):c.3793-2A>T

SNV
Germline

ChrX:49212996

Likely pathogenic

Congenital stationary night blindness 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005880774