congenital stationary night blindness - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438106	NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)	ABCA4 (K2076E +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438093	NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)	ABCA4 (E1087* +1 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness	GPathogenic
Select item 636227	NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val)	USH2A (A3603V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560516	NM_206933.2(USH2A):c.[2299del;4714C>T]	USH2A (E767fs +1 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 2A	GPathogenic
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinitis pigmentosa +22 more	GPathogenic
Select item 3067979	NM_000541.5(SAG):c.182-1G>A	SAG	Single nucleotide variant (splice acceptor variant)	Oguchi disease-1	GLikely pathogenic
Select item 898283	NM_000541.5(SAG):c.208C>T (p.Arg70Cys)	SAG (R70C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 167635	NM_000541.5(SAG):c.436-18G>C	SAG	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 41895	NM_000541.5(SAG):c.577C>T (p.Arg193Ter)	SAG (R193*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 984410	NM_000541.5(SAG):c.648+1G>C	SAG	Single nucleotide variant (splice donor variant)	Oguchi disease-2	GPathogenic
Select item 1351684	NM_000541.5(SAG):c.682G>A (p.Val228Met)	SAG (V228M)	Single nucleotide variant (missense variant)	Oguchi disease-1 +2 more	GUncertain significance
Select item 1228049	NM_000541.5(SAG):c.733+31T>G	SAG	Single nucleotide variant (intron variant)	Oguchi disease-1 +1 more	GBenign
Select item 3068132	NM_000541.5(SAG):c.777C>G (p.Tyr259Ter)	SAG (Y259*)	Single nucleotide variant (nonsense)	Oguchi disease-1	GLikely pathogenic
Select item 41897	NM_000541.5(SAG):c.874C>T (p.Arg292Ter)	SAG (R292*)	Single nucleotide variant (nonsense)	Oguchi disease-1 +2 more	GPathogenic
Select item 194605	NM_000541.5(SAG):c.1132G>A (p.Val378Ile)	SAG (V378I)	Single nucleotide variant (missense variant)	Oguchi disease +4 more	GUncertain significance
Select item 194606	NM_000541.5(SAG):c.1207G>A (p.Val403Ile)	SAG (V403I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GBenign
Select item 369421	NM_144499.2(GNAT1):c.-130G>C	GNAT1	Single nucleotide variant	not provided +1 more	GBenign
Select item 346043	NM_144499.3(GNAT1):c.-2C>G	GNAT1	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 900878	NM_144499.3(GNAT1):c.15C>T (p.Ala5=)	GNAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 346044	NM_144499.3(GNAT1):c.38G>A (p.Arg13Lys)	GNAT1 (R13K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 346045	NM_144499.3(GNAT1):c.39G>A (p.Arg13=)	GNAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 346046	NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln)	GNAT1 (R28Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3366905	NM_144499.3(GNAT1):c.98T>C (p.Leu33Pro)	GNAT1 (L33P)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GLikely pathogenic
Select item 15926	NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)	GNAT1 (G38D)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 3	GPathogenic
Select item 346047	NM_144499.3(GNAT1):c.117G>A (p.Glu39=)	GNAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3366971	NM_144499.3(GNAT1):c.124A>G (p.Lys42Glu)	GNAT1 (K42E)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GLikely pathogenic
Select item 902548	NM_144499.3(GNAT1):c.149+8C>A	GNAT1	Single nucleotide variant (intron variant)	Congenital stationary night blindness autosomal dominant 3 +1 more	GConflicting classifications of pathogenicity
Select item 902549	NM_144499.3(GNAT1):c.165C>T (p.Asp55=)	GNAT1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 3 +1 more	GConflicting classifications of pathogenicity
Select item 346048	NM_144499.3(GNAT1):c.241G>A (p.Val81Ile)	GNAT1 (V81I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 930996	NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe)	GNAT1 (L87F)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1G	GUncertain significance
Select item 1075132	NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)	GNAT1 (Y91*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 346049	NM_144499.3(GNAT1):c.294C>T (p.Asp98=)	GNAT1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 3 +1 more	GBenign/Likely benign
Select item 855140	NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)	GNAT1 (S120*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness autosomal dominant 3 +1 more	GConflicting classifications of pathogenicity
Select item 190968	NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)	GNAT1 (D129G)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1G	GPathogenic
Select item 903401	NM_144499.3(GNAT1):c.411G>A (p.Glu137=)	GNAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1301808	NM_144499.3(GNAT1):c.450-11G>T	GNAT1	Single nucleotide variant (intron variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 634632	NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser)	GNAT1 (Y163S)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 3 +1 more	GUncertain significance
Select item 190967	NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)	GNAT1 (Q200E)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 3	GPathogenic
Select item 346050	NM_144499.3(GNAT1):c.675C>T (p.Ala225=)	GNAT1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1G +2 more	GBenign/Likely benign
Select item 903402	NM_144499.3(GNAT1):c.773C>T (p.Thr258Met)	GNAT1 (T258M)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 3 +1 more	GUncertain significance
Select item 346051	NM_144499.3(GNAT1):c.830C>T (p.Ala277Val)	GNAT1 (A277V)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346052	NM_144499.3(GNAT1):c.876C>T (p.Tyr292=)	GNAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 346053	NM_144499.3(GNAT1):c.882C>T (p.Asp294=)	GNAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488669	NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)	GNAT1 (Q302*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 346054	NM_144499.3(GNAT1):c.926G>C (p.Arg309Pro)	GNAT1 (R309P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 346055	NM_144499.3(GNAT1):c.939G>A (p.Lys313=)	GNAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 932142	NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val)	GNAT1 (I339V)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1G	GUncertain significance
Select item 346056	NM_144499.3(GNAT1):c.*5C>T	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 346057	NM_144499.3(GNAT1):c.*128T>A	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346058	NM_144499.3(GNAT1):c.*183C>G	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 346059	NM_144499.3(GNAT1):c.*410A>G	GNAT1	Single nucleotide variant (intron variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 346060	NM_144499.3(GNAT1):c.*516T>G	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 346061	NM_144499.3(GNAT1):c.*551C>T	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346062	NM_144499.3(GNAT1):c.*618C>T	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 900948	NM_144499.3(GNAT1):c.*678C>T	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 900949	NM_144499.3(GNAT1):c.*728C>T	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 900950	NM_144499.3(GNAT1):c.*806G>A	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 900951	NM_144499.3(GNAT1):c.*834T>A	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 900952	NM_144499.3(GNAT1):c.*903G>A	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346063	NM_144499.3(GNAT1):c.*1101C>T	GNAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346064	NM_144499.3(GNAT1):c.*1174G>A	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 346065	NM_144499.3(GNAT1):c.*1187G>A	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 346066	NM_144499.3(GNAT1):c.*1205C>T	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 902605	NM_144499.3(GNAT1):c.*1274G>A	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346067	NM_144499.3(GNAT1):c.*1369G>T	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346068	NM_144499.3(GNAT1):c.*1379G>A	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346069	NM_144499.3(GNAT1):c.*1397G>T	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 346070	NM_144499.3(GNAT1):c.*1427A>G	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 346071	NM_144499.3(GNAT1):c.*1789A>G	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346072	NM_144499.3(GNAT1):c.*1954C>T	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 903455	NM_144499.3(GNAT1):c.*1990G>A	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 346073	NM_144499.3(GNAT1):c.*1991G>A	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 903456	NM_144499.3(GNAT1):c.*2046G>C	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346074	NM_144499.3(GNAT1):c.*2074T>C	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 903457	NM_144499.3(GNAT1):c.*2128C>A	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346075	NM_144499.3(GNAT1):c.*2129G>A	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 346076	NM_144499.3(GNAT1):c.*2267C>T	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GUncertain significance
Select item 899842	NM_144499.3(GNAT1):c.*2329A>G	GNAT1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 3	GBenign
Select item 343272	NM_000539.3(RHO):c.-51G>A	RHO	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GBenign
Select item 256383	NM_000539.3(RHO):c.-26A>G	RHO	Single nucleotide variant (5 prime UTR variant)	Pigmentary retinal dystrophy +5 more	GBenign
Select item 900391	NM_000539.3(RHO):c.-24G>T	RHO	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343273	NM_000539.3(RHO):c.48G>A (p.Ala16=)	RHO	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900392	NM_000539.3(RHO):c.62G>A (p.Arg21His)	RHO (R21H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 13013	NM_000539.3(RHO):c.68C>A (p.Pro23His)	RHO (P23H)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic
Select item 900393	NM_000539.3(RHO):c.87C>T (p.Tyr29=)	RHO	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 343274	NM_000539.3(RHO):c.152G>C (p.Gly51Ala)	RHO (G51A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1707636	NM_000539.3(RHO):c.194_205del (p.His65_Leu68del)	RHO	Deletion (inframe_deletion)	Congenital stationary night blindness autosomal dominant 1	GUncertain significance
Select item 900453	NM_000539.3(RHO):c.205C>T (p.Arg69Cys)	RHO (R69C)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 834861	NM_000539.3(RHO):c.209C>T (p.Thr70Met)	RHO (T70M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13045	NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	RHO (G90D)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy +1 more	GPathogenic
Select item 13054	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	RHO (T94I)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1	GLikely pathogenic
Select item 860981	NM_000539.3(RHO):c.310G>A (p.Val104Ile)	RHO (V104I)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +4 more	GConflicting classifications of pathogenicity
Select item 867081	NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	RHO (C110R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic
Select item 1451122	NM_000539.3(RHO):c.337G>A (p.Glu113Lys)	RHO (E113K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 193112	NM_000539.3(RHO):c.360C>T (p.Gly120=)	RHO	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 900454	NM_000539.3(RHO):c.361+10G>A	RHO	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 343275	NM_000539.3(RHO):c.361+12del	RHO	Deletion (intron variant)	Congenital Stationary Night Blindness, Dominant +2 more	GBenign/Likely benign
Select item 984781	NM_000539.3(RHO):c.362G>T (p.Gly121Val)	RHO (G121V)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GLikely pathogenic
Select item 343276	NM_000539.3(RHO):c.381C>G (p.Ser127=)	RHO	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 1 +3 more	GBenign/Likely benign
Select item 902117	NM_000539.3(RHO):c.399C>A (p.Ile133=)	RHO	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity

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