NYX[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368264	NM_001378477.3(NYX):c.-57+46T>C	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A	GUncertain significance
Select item 368265	NM_001378477.3(NYX):c.-57+60A>G	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 368266	NM_001378477.3(NYX):c.-57+95T>C	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A +1 more	GBenign
Select item 914163	NM_001378477.3(NYX):c.-57+99T>C	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A	GUncertain significance
Select item 368267	NM_001378477.3(NYX):c.-56-45T>G	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A	GUncertain significance
Select item 3351595	NM_001378477.3(NYX):c.-23C>G	NYX	Single nucleotide variant (5 prime UTR variant)	NYX-related disorder	GLikely benign
Select item 1975933	NM_001378477.3(NYX):c.-6C>T	NYX	Single nucleotide variant (5 prime UTR variant)	not provided	GPathogenic
Select item 1938300	NM_001378477.3(NYX):c.-5G>A	NYX	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1488103	NM_001378477.3(NYX):c.-1G>T	NYX	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1710112	NM_001378477.3(NYX):c.22+5G>A	NYX	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 1897499	NM_001378477.3(NYX):c.22+16G>T	NYX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165274	NM_001378477.3(NYX):c.22+16G>A	NYX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658805	NM_001378477.3(NYX):c.23-16C>G	NYX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672638	NM_001378477.3(NYX):c.23-12C>G	NYX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496942	NM_001378477.3(NYX):c.23-1_23delinsTT	NYX	Indel (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1942960	NM_001378477.3(NYX):c.32T>A (p.Leu11His)	NYX (L11H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863566	NM_001378477.3(NYX):c.34G>A (p.Gly12Ser)	NYX (G12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513523	NM_001378477.3(NYX):c.34G>C (p.Gly12Arg)	NYX (G12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2596148	NM_001378477.3(NYX):c.38T>G (p.Leu13Arg)	NYX (L13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1640395	NM_001378477.3(NYX):c.57G>C (p.Val19=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1025763	NM_001378477.3(NYX):c.58G>A (p.Gly20Arg)	NYX (G20R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99841	NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)	NYX	Deletion (inframe_deletion)	Congenital stationary night blindness 1A +2 more	GPathogenic
Select item 99843	NM_001378477.3(NYX):c.77G>C (p.Cys26Ser)	NYX (C31S +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2024391	NM_001378477.3(NYX):c.78T>G (p.Cys26Trp)	NYX (C26W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371441	NM_001378477.3(NYX):c.82G>A (p.Ala28Thr)	NYX (A28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771394	NM_001378477.3(NYX):c.88T>C (p.Cys30Arg)	NYX (C30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617556	NM_001378477.3(NYX):c.90C>T (p.Cys30=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 11422	NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)	NYX (C35* +1 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1A	GPathogenic
Select item 1926005	NM_001378477.3(NYX):c.92C>A (p.Ala31Asp)	NYX (A31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533084	NM_001378477.3(NYX):c.93C>T (p.Ala31=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133670	NM_001378477.3(NYX):c.100_101insTAGCA (p.Thr34fs)	NYX (T34fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1161794	NM_001378477.3(NYX):c.102C>T (p.Thr34=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463838	NM_001378477.3(NYX):c.103G>A (p.Val35Met)	NYX (V35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363977	NM_001378477.3(NYX):c.109C>G (p.Arg37Gly)	NYX (R37G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836661	NM_001378477.3(NYX):c.110G>A (p.Arg37His)	NYX (R42H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813169	NM_001378477.3(NYX):c.111C>T (p.Arg37=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370822	NM_001378477.3(NYX):c.112G>C (p.Gly38Arg)	NYX (G38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2040255	NM_001378477.3(NYX):c.119C>A (p.Ser40Ter)	NYX (S40*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 837475	NM_001378477.3(NYX):c.119C>T (p.Ser40Leu)	NYX (S45L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573184	NM_001378477.3(NYX):c.120G>C (p.Ser40=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 933896	NM_001378477.3(NYX):c.122T>G (p.Val41Gly)	NYX (V46G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1150885	NM_001378477.3(NYX):c.123G>A (p.Val41=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3358283	NM_001378477.3(NYX):c.129C>A (p.Cys43Ter)	NYX (C43*)	Single nucleotide variant (nonsense)	NYX-related disorder	GLikely pathogenic
Select item 1514923	NM_001378477.3(NYX):c.133C>G (p.Arg45Gly)	NYX (R45G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960243	NM_001378477.3(NYX):c.135C>T (p.Arg45=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466317	NM_001378477.3(NYX):c.139G>C (p.Gly47Arg)	NYX (G47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348072	NM_001378477.3(NYX):c.139G>A (p.Gly47Ser)	NYX (G47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2267422	NM_001378477.3(NYX):c.145C>G (p.Leu49Val)	NYX (L49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914661	NM_001378477.3(NYX):c.148C>T (p.Arg50Trp)	NYX (R55W +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A +1 more	GUncertain significance
Select item 1039062	NM_001378477.3(NYX):c.152T>C (p.Val51Ala)	NYX (V51A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048276	NM_001378477.3(NYX):c.155C>T (p.Pro52Leu)	NYX (P52L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392949	NM_001378477.3(NYX):c.158C>T (p.Ala53Val)	NYX (A53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022485	NM_001378477.3(NYX):c.160G>A (p.Glu54Lys)	NYX (E54K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032462	NM_001378477.3(NYX):c.162G>A (p.Glu54=)	NYX	Single nucleotide variant (synonymous variant)	NYX-related disorder	GLikely benign
Select item 1920036	NM_001378477.3(NYX):c.184A>G (p.Ile62Val)	NYX (I62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880059	NM_001378477.3(NYX):c.187G>C (p.Asp63His)	NYX (D63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372097	NM_001378477.3(NYX):c.195C>G (p.Asp65Glu)	NYX (D65E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138550	NM_001378477.3(NYX):c.201C>G (p.Asn67Lys)	NYX (N67K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360995	NM_001378477.3(NYX):c.202G>A (p.Gly68Ser)	NYX (G68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914662	NM_001378477.3(NYX):c.207G>A (p.Leu69=)	NYX	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1A +1 more	GBenign/Likely benign
Select item 3001413	NM_001378477.3(NYX):c.209G>A (p.Arg70His)	NYX (R70H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345960	NM_001378477.3(NYX):c.217G>A (p.Gly73Ser)	NYX (G73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981656	NM_001378477.3(NYX):c.218G>A (p.Gly73Asp)	NYX (G73D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937556	NM_001378477.3(NYX):c.222G>C (p.Glu74Asp)	NYX (E74D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065092	NM_001378477.3(NYX):c.224G>A (p.Arg75Gln)	NYX (R75Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 867038	NM_001378477.3(NYX):c.224G>C (p.Arg75Pro)	NYX (R80P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1475612	NM_001378477.3(NYX):c.232G>A (p.Gly78Ser)	NYX (G78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827013	NM_001378477.3(NYX):c.242C>G (p.Pro81Arg)	NYX (P81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930544	NM_001378477.3(NYX):c.242C>A (p.Pro81Gln)	NYX (P81Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1125405	NM_001378477.3(NYX):c.243G>A (p.Pro81=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999392	NM_001378477.3(NYX):c.249G>A (p.Leu83=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501298	NM_001378477.3(NYX):c.250C>A (p.Arg84Ser)	NYX (R84S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947495	NM_001378477.3(NYX):c.251G>A (p.Arg84His)	NYX (R84H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11424	NM_001378477.3(NYX):c.266G>C (p.Arg89Pro)	NYX (R89P)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A	GPathogenic
Select item 955555	NM_001378477.3(NYX):c.281C>T (p.Ser94Phe)	NYX (S99F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11425	NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)	NYX (I96T)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A	GPathogenic
Select item 1109366	NM_001378477.3(NYX):c.291G>T (p.Thr97=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383664	NM_001378477.3(NYX):c.293C>T (p.Pro98Leu)	NYX (P98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027123	NM_001378477.3(NYX):c.309C>T (p.Gly103=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113446	NM_001378477.3(NYX):c.311T>G (p.Leu104Arg)	NYX (L104R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975271	NM_001378477.3(NYX):c.314C>T (p.Pro105Leu)	NYX (P105L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049194	NM_001378477.3(NYX):c.316C>G (p.Arg106Gly)	NYX (R106G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866725	NM_001378477.3(NYX):c.317G>C (p.Arg106Pro)	NYX (R111P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 953849	NM_001378477.3(NYX):c.319C>G (p.Leu107Val)	NYX (L112V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138551	NM_001378477.3(NYX):c.320T>C (p.Leu107Pro)	NYX (L107P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99830	NM_001378477.3(NYX):c.325_339del (p.Glu109_Ala113del)	NYX	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 2704354	NM_001378477.3(NYX):c.329T>C (p.Leu110Pro)	NYX (L110P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3203623	NM_001378477.3(NYX):c.331C>A (p.Arg111Ser)	NYX (R111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2737207	NM_001378477.3(NYX):c.335T>C (p.Leu112Pro)	NYX (L112P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812357	NM_001378477.3(NYX):c.335T>A (p.Leu112Gln)	NYX (L117Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953769	NM_001378477.3(NYX):c.337G>A (p.Ala113Thr)	NYX (A118T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751962	NM_001378477.3(NYX):c.338C>T (p.Ala113Val)	NYX (A113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052905	NM_001378477.3(NYX):c.346G>A (p.Gly116Ser)	NYX (G116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007651	NM_001378477.3(NYX):c.348C>T (p.Gly116=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386831	NM_001378477.3(NYX):c.356G>A (p.Arg119His)	NYX (R119H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213864	NM_001378477.3(NYX):c.371_372dup (p.Thr125fs)	NYX (T125fs)	Microsatellite (frameshift variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 914663	NM_001378477.3(NYX):c.368C>T (p.Ala123Val)	NYX (A128V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2418178	NM_001378477.3(NYX):c.369G>T (p.Ala123=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 964388	NM_001378477.3(NYX):c.371G>C (p.Arg124Pro)	NYX (R129P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506464	NM_001378477.3(NYX):c.378C>G (p.Phe126Leu)	NYX (F126L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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