ClinVar for Gene (Select 3425) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382468	NM_000203.5(IDUA):c.159-9T>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 3382137	NM_000203.5(IDUA):c.792G>A (p.Lys264=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 3377591	NM_000203.5(IDUA):c.271del (p.His91fs)	IDUA, SLC26A1 (H91fs)	Deletion (3 prime UTR variant +3 more)	Hurler syndrome	GLikely pathogenic
Select item 3376497	NM_000203.5(IDUA):c.1655C>T (p.Thr552Met)	IDUA (T420M +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 3369358	NM_000203.5(IDUA):c.299+2403C>A	IDUA, SLC26A1 (G196V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367972	NM_000203.5(IDUA):c.29T>C (p.Leu10Pro)	IDUA, SLC26A1 (L10P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3366583	NM_000203.5(IDUA):c.158+4A>C	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3352829	NM_022042.4(SLC26A1):c.489C>T (p.Asn163=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	SLC26A1-related disorder	GLikely benign
Select item 3319285	NM_022042.4(SLC26A1):c.1510C>T (p.Arg504Cys)	IDUA, SLC26A1 (R504C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319284	NM_022042.4(SLC26A1):c.355C>T (p.Arg119Trp)	IDUA, SLC26A1 (R119W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319283	NM_022042.4(SLC26A1):c.917C>T (p.Ser306Leu)	IDUA, SLC26A1 (S306L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319282	NM_022042.4(SLC26A1):c.1904G>A (p.Arg635Gln)	IDUA, SLC26A1 (R635Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319281	NM_022042.4(SLC26A1):c.1393C>T (p.Arg465Trp)	IDUA, SLC26A1 (R465W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319280	NM_022042.4(SLC26A1):c.1910A>G (p.Tyr637Cys)	IDUA, SLC26A1 (Y637C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319279	NM_022042.4(SLC26A1):c.1979G>A (p.Gly660Glu)	IDUA, SLC26A1 (G660E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319278	NM_022042.4(SLC26A1):c.454G>A (p.Gly152Ser)	IDUA, SLC26A1 (G152S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319276	NM_022042.4(SLC26A1):c.254C>T (p.Pro85Leu)	IDUA, SLC26A1 (P85L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3254789	NM_000203.5(IDUA):c.624_628dup (p.Arg210fs)	IDUA (R210fs +1 more)	Duplication (frameshift variant +1 more)	Hurler syndrome	GPathogenic
Select item 3246746	NC_000004.11:g.(?_818260)_(1020391_?)del	GAK, IDUA +5 more	Deletion	not provided	GUncertain significance
Select item 3246711	NC_000004.11:g.(?_980871)_(1020391_?)dup	FGFRL1, IDUA +1 more	Duplication	not provided	GUncertain significance
Select item 3246583	NC_000004.11:g.(?_995319)_(996126_?)del	IDUA	Deletion	Mucopolysaccharidosis type 1	GPathogenic
Select item 3246582	NC_000004.11:g.(?_997352)_(998539_?)del	IDUA	Deletion	Mucopolysaccharidosis type 1	GPathogenic
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 3233261	NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)	IDUA (E144K +1 more)	Single nucleotide variant (missense variant +1 more)	IDUA-related core myopathy +1 more	GPathogenic
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 +1 more	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 3147976	NM_000203.5(IDUA):c.530T>G (p.Phe177Cys)	IDUA (F177C +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GPathogenic
Select item 3108063	NM_000203.5(IDUA):c.1175T>A (p.Leu392Gln)	IDUA (L260Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108061	NM_000203.5(IDUA):c.1030G>A (p.Ala344Thr)	IDUA (A212T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062795	GRCh37/hg19 4p16.3(chr4:937611-1077542)x1	DGKQ, FGFRL1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3061994	NM_000203.5(IDUA):c.1652T>A (p.Val551Asp)	IDUA (V419D +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	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 3037130	NM_000203.5(IDUA):c.403dup (p.Ser135fs)	IDUA (S135fs +1 more)	Duplication (frameshift variant +1 more)	IDUA-related disorder	GLikely pathogenic
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 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 3022987	NM_022042.4(SLC26A1):c.577-16C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022938	NM_000203.5(IDUA):c.1190-15C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	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 3021845	NM_000203.5(IDUA):c.1829-14C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3021544	NM_000203.5(IDUA):c.1190-14C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
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 +1 more	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 +1 more	GConflicting classifications of pathogenicity
Select item 3020655	NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)	IDUA (E123*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 3019301	NM_000203.5(IDUA):c.973-17G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
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 3018089	NM_000203.5(IDUA):c.589+7A>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3017614	NM_000203.5(IDUA):c.1587G>C (p.Ala529=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
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 3015937	NM_000203.5(IDUA):c.1062C>T (p.Ser354=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3014792	NM_022042.4(SLC26A1):c.1019G>A (p.Arg340His)	IDUA, SLC26A1 (R340H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014778	NM_000203.5(IDUA):c.1190-18C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3014777	NM_000203.5(IDUA):c.1190-19G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3013208	NM_000203.5(IDUA):c.1524+19G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3012659	NM_000203.5(IDUA):c.385+15C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3009717	NM_000203.5(IDUA):c.1080C>T (p.Phe360=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3009193	NM_000203.5(IDUA):c.774C>T (p.Tyr258=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3004092	NM_000203.5(IDUA):c.972+7C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
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 3001625	NM_000203.5(IDUA):c.1525-20G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3001152	NM_022042.4(SLC26A1):c.577-13A>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000334	NM_000203.5(IDUA):c.1189+14G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2999505	NM_000203.5(IDUA):c.1584C>G (p.Pro528=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2998758	NM_000203.5(IDUA):c.1407G>T (p.Leu469=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	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 2998207	NM_000203.5(IDUA):c.1125C>T (p.Arg375=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2997543	NM_000203.5(IDUA):c.1190-13C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2996626	NM_022042.4(SLC26A1):c.1357G>A (p.Ala453Thr)	SLC26A1, IDUA (A453T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995688	NM_000203.5(IDUA):c.973-15C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
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 2991888	NM_000203.5(IDUA):c.590-8dup	IDUA	Duplication (intron variant)	Mucopolysaccharidosis type 1	GBenign
Select item 2988325	NM_000203.5(IDUA):c.866del (p.Lys289fs)	IDUA (K289fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2987186	NM_000203.5(IDUA):c.1190-13C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2986523	NM_000203.5(IDUA):c.1692G>T (p.Leu564=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
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 2981845	NM_000203.5(IDUA):c.1077C>G (p.Pro359=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2979956	NM_000203.5(IDUA):c.589+20dup	IDUA	Duplication (intron variant)	Mucopolysaccharidosis type 1	GBenign
Select item 2979954	NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg)	IDUA (G347R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance

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