STX3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2101978	NM_004177.5(STX3):c.10C>T (p.Arg4Cys)	STX3 (R4C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008093	NM_004177.5(STX3):c.12T>C (p.Arg4=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040801	NM_004177.5(STX3):c.24G>A (p.Leu8=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494830	NM_004177.5(STX3):c.29C>T (p.Ala10Val)	STX3 (A10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506068	NM_004177.5(STX3):c.30+1G>T	STX3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2846465	NM_004177.5(STX3):c.30+10G>A	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981217	NM_004177.5(STX3):c.30+12C>G	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601054	NM_004177.5(STX3):c.30+12C>T	STX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1545232	NM_004177.5(STX3):c.30+12C>A	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008370	NM_004177.5(STX3):c.30+13G>T	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574017	NM_004177.5(STX3):c.30+17G>A	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801488	NM_004177.5(STX3):c.30+29_30+43del	STX3	Deletion (intron variant)	not provided	GLikely benign
Select item 2708390	NM_004177.5(STX3):c.33G>A (p.Lys11=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324189	NM_004177.5(STX3):c.34C>G (p.Gln12Glu)	STX3 (Q12E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1448434	NM_004177.5(STX3):c.36G>C (p.Gln12His)	STX3 (Q12H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787544	NM_004177.5(STX3):c.44A>G (p.Gln15Arg)	STX3 (Q15R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1350844	NM_004177.5(STX3):c.47A>G (p.Asp16Gly)	STX3 (D16G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026504	NM_004177.5(STX3):c.54T>C (p.Asp18=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416375	NM_004177.5(STX3):c.62C>T (p.Ala21Val)	STX3 (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768196	NM_004177.5(STX3):c.66T>A (p.Val22=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244259	NM_004177.5(STX3):c.79G>A (p.Asp27Asn)	STX3 (D27N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1504001	NM_004177.5(STX3):c.86C>T (p.Thr29Met)	STX3 (T29M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974860	NM_004177.5(STX3):c.99C>T (p.Asp33=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837458	NM_004177.5(STX3):c.114+15T>A	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003592	NM_004177.5(STX3):c.115-19A>G	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1081449	NM_004177.5(STX3):c.115-15T>C	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742724	NM_004177.5(STX3):c.115-7A>G	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125663	NM_004177.5(STX3):c.115-3T>C	STX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1184256	NM_004177.5(STX3):c.115-2A>G	STX3	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy and microvillus inclusion disease	GPathogenic
Select item 209041	NM_004177.5(STX3):c.122A>G (p.Glu41Gly)	STX3 (E41G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173832	NM_004177.5(STX3):c.127C>T (p.Arg43Trp)	STX3 (R43W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566841	NM_004177.5(STX3):c.135C>T (p.Asn45=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041823	NM_004177.5(STX3):c.136A>G (p.Ile46Val)	STX3 (I46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354927	NM_004177.5(STX3):c.140A>G (p.Asp47Gly)	STX3 (D47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023553	NM_004177.5(STX3):c.147C>A (p.Ile49=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164590	NM_004177.5(STX3):c.155A>G (p.His52Arg)	STX3 (H52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1654547	NM_004177.5(STX3):c.159A>G (p.Val53=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1381509	NM_004177.5(STX3):c.175C>T (p.Leu59Phe)	STX3 (L59F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1070995	NM_004177.5(STX3):c.177_178del (p.Tyr60fs)	STX3 (Y60fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1010129	NM_004177.5(STX3):c.178T>C (p.Tyr60His)	STX3 (Y60H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931366	NM_004177.5(STX3):c.180C>T (p.Tyr60=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993728	NM_004177.5(STX3):c.183T>C (p.Ser61=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420524	NM_004177.5(STX3):c.187A>G (p.Ile63Val)	STX3 (I63V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258871	NM_004177.5(STX3):c.190C>T (p.Leu64Phe)	STX3 (L64F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1357490	NM_004177.5(STX3):c.194C>G (p.Ser65Cys)	STX3 (S65C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3171757	NM_004177.5(STX3):c.197C>T (p.Ala66Val)	STX3 (A66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1957300	NM_004177.5(STX3):c.200C>T (p.Pro67Leu)	STX3 (P67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1093737	NM_004177.5(STX3):c.201G>A (p.Pro67=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470754	NM_004177.5(STX3):c.210G>C (p.Glu70Asp)	STX3 (E70D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1499794	NM_004177.5(STX3):c.211C>A (p.Pro71Thr)	STX3 (P71T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116036	NM_004177.5(STX3):c.214A>C (p.Lys72Gln)	STX3 (K72Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728062	NM_004177.5(STX3):c.215-10A>G	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899728	NM_004177.5(STX3):c.217A>G (p.Thr73Ala)	STX3 (T73A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642307	NM_004177.5(STX3):c.219C>T (p.Thr73=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566143	NM_004177.5(STX3):c.228C>T (p.Asp76=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1054838	NM_004177.5(STX3):c.242C>T (p.Thr81Met)	STX3 (T81M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2420067	NM_004177.5(STX3):c.243G>A (p.Thr81=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980336	NM_004177.5(STX3):c.270C>T (p.Asn90=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444561	NM_004177.5(STX3):c.270C>A (p.Asn90Lys)	STX3 (N90K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1463246	NM_004177.5(STX3):c.271G>T (p.Val91Phe)	STX3 (V91F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1371983	NM_004177.5(STX3):c.271G>A (p.Val91Ile)	STX3 (V91I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1385025	NM_004177.5(STX3):c.274C>T (p.Arg92Trp)	STX3 (R92W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1409730	NM_004177.5(STX3):c.275G>A (p.Arg92Gln)	STX3 (R92Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507030	NM_004177.5(STX3):c.287A>G (p.Lys96Arg)	STX3 (K96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554465	NM_004177.5(STX3):c.289+8G>T	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662540	NM_004177.5(STX3):c.289+13C>T	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669728	NM_004177.5(STX3):c.289+17G>T	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028422	NM_004177.5(STX3):c.289+18A>G	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842911	NM_004177.5(STX3):c.290-17C>T	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738442	NM_004177.5(STX3):c.290-11C>T	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 768451	NM_004177.5(STX3):c.290-5T>C	STX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714776	NM_004177.5(STX3):c.291C>T (p.Ser97=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2857925	NM_004177.5(STX3):c.303T>C (p.His101=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729945	NM_004177.5(STX3):c.318G>A (p.Glu106=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647871	NM_004177.5(STX3):c.327A>T (p.Ser109=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350669	NM_004177.5(STX3):c.329C>T (p.Ser110Leu)	STX3 (S110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976388	NM_004177.5(STX3):c.340C>T (p.Arg114Trp)	STX3 (R114W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421587	NM_004177.5(STX3):c.346C>T (p.Arg116Trp)	STX3 (R116W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736802	NM_004177.5(STX3):c.354C>T (p.Ser118=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854818	NM_004177.5(STX3):c.357+8T>A	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995698	NM_004177.5(STX3):c.357+16G>A	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937225	NM_004177.5(STX3):c.358-20C>T	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666388	NM_004177.5(STX3):c.358-13C>T	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1099666	NM_004177.5(STX3):c.358-4A>G	STX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1516591	NM_004177.5(STX3):c.358C>T (p.His120Tyr)	STX3 (H120Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878570	NM_004177.5(STX3):c.360C>T (p.His120=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1184255	NM_004177.5(STX3):c.363_366delinsGA (p.Val122fs)	STX3 (V122fs)	Indel (frameshift variant)	Retinal dystrophy and microvillus inclusion disease	GPathogenic
Select item 3171758	NM_004177.5(STX3):c.364G>C (p.Val122Leu)	STX3 (V122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385532	NM_004177.5(STX3):c.367C>T (p.Leu123Phe)	STX3 (L123F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184254	NM_004177.5(STX3):c.372_373dup (p.Arg125fs)	STX3 (R125fs)	Microsatellite (frameshift variant)	Retinal dystrophy and microvillus inclusion disease	GPathogenic
Select item 1390887	NM_004177.5(STX3):c.373C>T (p.Arg125Trp)	STX3 (R125W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111892	NM_004177.5(STX3):c.390G>A (p.Val130=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087265	NM_004177.5(STX3):c.399A>G (p.Lys133=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035556	NM_004177.5(STX3):c.402C>T (p.Tyr134=)	STX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429781	NM_004177.5(STX3):c.404A>G (p.Asn135Ser)	STX3 (N135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884036	NM_004177.5(STX3):c.424C>T (p.Arg142Ter)	STX3 (R142*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2086932	NM_004177.5(STX3):c.430C>T (p.Arg144Cys)	STX3 (R144C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982092	NM_004177.5(STX3):c.431G>A (p.Arg144His)	STX3 (R144H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162523	NM_004177.5(STX3):c.442C>T (p.Arg148Ter)	STX3 (R148*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1502642	NM_004177.5(STX3):c.443G>A (p.Arg148Gln)	STX3 (R148Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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