Related gene-specific medical variations for Gene (Select 10861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236180	NM_022042.4(SLC26A1):c.28C>T (p.Gln10Ter)	IDUA, SLC26A1 (Q10*)	Single nucleotide variant (nonsense +1 more)	Nephrolithiasis susceptibility caused by SLC26A1	GUncertain significance
Select item 3163826	NM_022042.4(SLC26A1):c.82C>T (p.Arg28Cys)	IDUA, SLC26A1 (R28C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3163825	NM_022042.4(SLC26A1):c.727G>C (p.Gly243Arg)	IDUA, SLC26A1 (G243R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163824	NM_022042.4(SLC26A1):c.607G>A (p.Val203Met)	IDUA, SLC26A1 (V203M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163822	NM_022042.4(SLC26A1):c.53G>A (p.Arg18Gln)	IDUA, SLC26A1 (R18Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163821	NM_022042.4(SLC26A1):c.445T>C (p.Ser149Pro)	IDUA, SLC26A1 (S149P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163820	NM_022042.4(SLC26A1):c.2092G>A (p.Asp698Asn)	IDUA, SLC26A1 (D698N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163819	NM_022042.4(SLC26A1):c.2057C>T (p.Thr686Ile)	IDUA, SLC26A1 (T686I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163817	NM_022042.4(SLC26A1):c.1876G>A (p.Gly626Ser)	IDUA, SLC26A1 (G626S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163816	NM_022042.4(SLC26A1):c.1822G>A (p.Gly608Ser)	IDUA, SLC26A1 (G608S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163815	NM_022042.4(SLC26A1):c.143C>T (p.Ala48Val)	IDUA, SLC26A1 (A48V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163814	NM_022042.4(SLC26A1):c.1411G>A (p.Ala471Thr)	IDUA, SLC26A1 (A471T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163812	NM_022042.4(SLC26A1):c.1015C>G (p.Gln339Glu)	IDUA, SLC26A1 (Q339E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3047472	NM_022042.4(SLC26A1):c.1188C>T (p.Ser396=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	SLC26A1-related disorder	GLikely benign
Select item 3044947	NM_022042.4(SLC26A1):c.1530C>T (p.Thr510=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	SLC26A1-related disorder	GLikely benign
Select item 3025479	NM_022042.4(SLC26A1):c.782T>C (p.Val261Ala)	IDUA, SLC26A1 (V261A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022987	NM_022042.4(SLC26A1):c.577-16C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022592	NM_022042.4(SLC26A1):c.661G>A (p.Val221Met)	IDUA, SLC26A1 (V221M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022340	NM_022042.4(SLC26A1):c.700G>A (p.Val234Met)	IDUA, SLC26A1 (V234M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021118	NM_022042.4(SLC26A1):c.285G>T (p.Gly95=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020774	NM_022042.4(SLC26A1):c.1765C>G (p.Gln589Glu)	IDUA, SLC26A1 (Q589E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020773	NM_022042.4(SLC26A1):c.1958T>C (p.Val653Ala)	IDUA, SLC26A1 (V653A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3019106	NM_022042.4(SLC26A1):c.173G>A (p.Arg58His)	IDUA, SLC26A1 (R58H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016718	NM_022042.4(SLC26A1):c.1597C>T (p.Pro533Ser)	IDUA, SLC26A1 (P533S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014792	NM_022042.4(SLC26A1):c.1019G>A (p.Arg340His)	SLC26A1, IDUA (R340H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003225	NM_022042.4(SLC26A1):c.191G>A (p.Arg64His)	IDUA, SLC26A1 (R64H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001152	NM_022042.4(SLC26A1):c.577-13A>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998225	NM_022042.4(SLC26A1):c.1855C>A (p.Leu619Met)	IDUA, SLC26A1 (L619M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996626	NM_022042.4(SLC26A1):c.1357G>A (p.Ala453Thr)	IDUA, SLC26A1 (A453T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994694	NM_022042.4(SLC26A1):c.2044G>C (p.Asp682His)	IDUA, SLC26A1 (D682H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985942	NM_022042.4(SLC26A1):c.1036G>A (p.Val346Met)	IDUA, SLC26A1 (V346M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985684	NM_022042.4(SLC26A1):c.954C>T (p.Ser318=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978186	NM_022042.4(SLC26A1):c.1339G>A (p.Val447Met)	IDUA, SLC26A1 (V447M)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2977586	NM_022042.4(SLC26A1):c.785G>A (p.Cys262Tyr)	SLC26A1, IDUA (C262Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973374	NM_000203.5(IDUA):c.158+16C>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2972114	NM_022042.4(SLC26A1):c.1244C>A (p.Ser415Tyr)	IDUA, SLC26A1 (S415Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968264	NM_022042.4(SLC26A1):c.951G>A (p.Ser317=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967972	NM_000203.5(IDUA):c.291C>T (p.Val97=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2965620	NM_022042.4(SLC26A1):c.577-15G>C	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963266	NM_022042.4(SLC26A1):c.1784C>T (p.Pro595Leu)	IDUA, SLC26A1 (P595L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2962914	NM_022042.4(SLC26A1):c.831G>A (p.Ala277=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961149	NM_022042.4(SLC26A1):c.315C>T (p.Ser105=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960922	NM_022042.4(SLC26A1):c.727G>A (p.Gly243Ser)	IDUA, SLC26A1 (G243S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2959804	NM_022042.4(SLC26A1):c.540C>T (p.Val180=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959727	NM_000203.5(IDUA):c.175del (p.Ser59fs)	IDUA, SLC26A1 (S59fs)	Deletion (frameshift variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2958323	NM_022042.4(SLC26A1):c.1613G>A (p.Arg538Gln)	IDUA, SLC26A1 (R538Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957958	NM_022042.4(SLC26A1):c.139C>T (p.Arg47Trp)	SLC26A1, IDUA (R47W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957763	NM_022042.4(SLC26A1):c.125G>C (p.Ser42Thr)	IDUA, SLC26A1 (S42T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956908	NM_022042.4(SLC26A1):c.170C>T (p.Thr57Met)	IDUA, SLC26A1 (T57M)	Single nucleotide variant (missense variant +1 more)	SLC26A1-related disorder +2 more	GUncertain significance
Select item 2914028	NM_000203.5(IDUA):c.159-20C>A	SLC26A1, IDUA	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2912435	NM_022042.4(SLC26A1):c.1990G>A (p.Gly664Arg)	IDUA, SLC26A1 (G664R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908848	NM_000203.5(IDUA):c.299+14A>G	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2908456	NM_000203.5(IDUA):c.159-18C>T	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2900879	NM_022042.4(SLC26A1):c.238G>A (p.Gly80Ser)	IDUA, SLC26A1 (G80S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899778	NM_022042.4(SLC26A1):c.1793C>A (p.Thr598Asn)	IDUA, SLC26A1 (T598N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2898082	NM_000203.5(IDUA):c.158+12G>A	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2896944	NM_022042.4(SLC26A1):c.1192G>A (p.Ala398Thr)	IDUA, SLC26A1 (A398T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894560	NM_022042.4(SLC26A1):c.1912G>A (p.Gly638Arg)	IDUA, SLC26A1 (G638R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894183	NM_022042.4(SLC26A1):c.713G>A (p.Arg238Gln)	IDUA, SLC26A1 (R238Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894167	NM_022042.4(SLC26A1):c.588C>T (p.Gly196=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889544	NM_022042.4(SLC26A1):c.873G>A (p.Pro291=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	SLC26A1-related disorder +1 more	GLikely benign
Select item 2888115	NM_022042.4(SLC26A1):c.1635G>A (p.Pro545=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886366	NM_022042.4(SLC26A1):c.1444A>G (p.Met482Val)	IDUA, SLC26A1 (M482V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2885141	NM_022042.4(SLC26A1):c.1162G>A (p.Ala388Thr)	IDUA, SLC26A1 (A388T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2883613	NM_022042.4(SLC26A1):c.52C>T (p.Arg18Ter)	IDUA, SLC26A1 (R18*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2878874	NM_022042.4(SLC26A1):c.260C>T (p.Ala87Val)	IDUA, SLC26A1 (A87V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866981	NM_000203.5(IDUA):c.-23_18del (p.Met1fs)	IDUA, SLC26A1 (M1fs)	Deletion (frameshift variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2852741	NM_022042.4(SLC26A1):c.975G>A (p.Thr325=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845876	NM_022042.4(SLC26A1):c.1018C>G (p.Arg340Gly)	IDUA, SLC26A1 (R340G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2843836	NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)	IDUA, SLC26A1 (R89G)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2841975	NM_000203.5(IDUA):c.45C>G (p.Ala15=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2826754	NM_000203.5(IDUA):c.36G>T (p.Ala12=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2818372	NM_000203.5(IDUA):c.135C>T (p.Arg45=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2810459	NM_000203.5(IDUA):c.72C>G (p.Ala24=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2796989	NM_000203.5(IDUA):c.158+16C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2796873	NM_022042.4(SLC26A1):c.576+1G>A	IDUA, SLC26A1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2793182	NM_000203.5(IDUA):c.78C>T (p.Ala26=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2789152	NM_000203.5(IDUA):c.15C>G (p.Arg5=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2782940	NM_000203.5(IDUA):c.158+18T>C	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2777817	NM_000203.5(IDUA):c.158+13C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2771728	NM_000203.5(IDUA):c.258G>A (p.Lys86=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2762335	NM_000203.5(IDUA):c.33G>T (p.Leu11=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2762011	NM_022042.4(SLC26A1):c.1291G>A (p.Ala431Thr)	IDUA, SLC26A1 (A431T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2760384	NM_022042.4(SLC26A1):c.205C>G (p.Leu69Val)	IDUA, SLC26A1 (L69V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2759135	NM_022042.4(SLC26A1):c.1018C>T (p.Arg340Cys)	IDUA, SLC26A1 (R340C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2757924	NM_000203.5(IDUA):c.78C>G (p.Ala26=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2755120	NM_022042.4(SLC26A1):c.766G>A (p.Ala256Thr)	IDUA, SLC26A1 (A256T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2744372	NM_000203.5(IDUA):c.6T>C (p.Arg2=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2740722	NM_022042.4(SLC26A1):c.660C>T (p.Ser220=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2734634	NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)	IDUA, SLC26A1 (W68*)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2734632	NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)	IDUA, SLC26A1 (W41*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2733037	NM_022042.4(SLC26A1):c.681G>A (p.Gln227=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2732589	NM_000203.5(IDUA):c.299+15G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2732363	NM_000203.5(IDUA):c.280C>T (p.Leu94=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2727654	NM_022042.4(SLC26A1):c.1655A>G (p.Asp552Gly)	IDUA, SLC26A1 (D552G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723774	NM_022042.4(SLC26A1):c.1965C>G (p.Asp655Glu)	IDUA, SLC26A1 (D655E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723650	NM_022042.4(SLC26A1):c.1434G>A (p.Ala478=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2720835	NM_022042.4(SLC26A1):c.589G>A (p.Val197Ile)	IDUA, SLC26A1 (V197I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2720501	NM_022042.4(SLC26A1):c.1821C>T (p.Ala607=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717542	NM_022042.4(SLC26A1):c.16G>C (p.Glu6Gln)	IDUA, SLC26A1 (E6Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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