ClinVar for Gene (Select 4595) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344404	NM_001048174.2(MUTYH):c.1422_1431delinsCTG (p.Pro474_Gly475insTer)	MUTYH	Indel (frameshift variant +2 more)	MUTYH-related disorder	GLikely pathogenic
Select item 3338085	NM_001048174.2(MUTYH):c.1053del (p.Gln351fs)	MUTYH (Q236fs +12 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3338084	NM_001048174.2(MUTYH):c.1428_1430del (p.Cys477del)	MUTYH (C362del +12 more)	Deletion (inframe_deletion +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3336295	NC_000001.10:g.(?_45794913)_(45806113_?)dup	MUTYH, TOE1	Duplication	not specified	GUncertain significance
Select item 3297069	NM_001048174.2(MUTYH):c.476A>C (p.Gln159Pro)	MUTYH (Q131P +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297068	NM_001128425.2(MUTYH):c.179A>C (p.Glu60Ala)	MUTYH (E57A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297067	NM_001048174.2(MUTYH):c.1186C>T (p.Leu396=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3297066	NM_001048174.2(MUTYH):c.201C>T (p.Ala67=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3297064	NM_001048174.2(MUTYH):c.130C>T (p.Pro44Ser)	MUTYH (P16S +8 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297063	NM_001048174.2(MUTYH):c.373A>G (p.Met125Val)	MUTYH (M140V +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297062	NM_001128425.2(MUTYH):c.-5del	MUTYH, TOE1 (A3fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297061	NM_001128425.2(MUTYH):c.24G>A (p.Leu8=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3297060	NM_001048174.2(MUTYH):c.909G>A (p.Glu303=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3297059	NM_001048174.2(MUTYH):c.678dup (p.Ser227fs)	MUTYH (S112fs +12 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3297058	NM_001048174.2(MUTYH):c.1279G>A (p.Val427Ile)	MUTYH (V441I +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297057	NM_001048174.2(MUTYH):c.547C>A (p.Leu183Ile)	MUTYH (L169I +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297055	NM_001048174.2(MUTYH):c.315A>C (p.Ser105=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3297054	NM_001048174.2(MUTYH):c.1185A>T (p.Glu395Asp)	MUTYH (E280D +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297053	NM_001048174.2(MUTYH):c.1115G>T (p.Gly372Val)	MUTYH (G358V +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297052	NM_001048174.2(MUTYH):c.205C>G (p.Arg69Gly)	MUTYH (R94G +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297051	NM_001048174.2(MUTYH):c.77C>G (p.Ala26Gly)	MUTYH (A26G +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297049	NM_001048174.2(MUTYH):c.364A>G (p.Thr122Ala)	MUTYH (T133A +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297048	NM_001048174.2(MUTYH):c.1449C>T (p.Ser483=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3297047	NM_001128425.2(MUTYH):c.178G>C (p.Glu60Gln)	MUTYH (E43Q +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3297046	NM_001048174.2(MUTYH):c.850G>T (p.Val284Leu)	MUTYH (V169L +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297045	NM_001048174.2(MUTYH):c.1411G>C (p.Gly471Arg)	MUTYH (G443R +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297044	NM_001048174.2(MUTYH):c.275A>G (p.Glu92Gly)	MUTYH (E117G +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3297041	NM_001048174.2(MUTYH):c.411T>G (p.Ala137=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3297040	NM_001048174.2(MUTYH):c.1203del (p.Leu403fs)	MUTYH (L311fs +12 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3297039	NM_001048174.2(MUTYH):c.317A>G (p.Glu106Gly)	MUTYH (E117G +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3297038	NM_001048174.2(MUTYH):c.1103-3C>G	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3256429	NM_001048174.2(MUTYH):c.304+5G>C	MUTYH	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3256422	NM_001048174.2(MUTYH):c.379-49A>G	MUTYH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256409	NM_001048174.2(MUTYH):c.914-25A>G	MUTYH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256396	NM_001048174.2(MUTYH):c.1191G>C (p.Gln397His)	MUTYH (Q282H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256390	NM_001048174.2(MUTYH):c.1240-40T>C	MUTYH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256386	NM_001048174.2(MUTYH):c.1366_1367insT (p.Ala456fs)	MUTYH (A341fs +12 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3247746	NC_000001.10:g.(?_45798269)_(45801500_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 3247745	NC_000001.10:g.(?_45794978)_(45797992_?)dup	MUTYH	Duplication	Familial adenomatous polyposis 2	GUncertain significance
Select item 3247744	NC_000001.10:g.(?_45794978)_(45799285_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 3247742	NC_000001.10:g.(?_45794978)_(45800193_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 3242101	NM_001048174.2(MUTYH):c.539T>C (p.Leu180Pro)	MUTYH (L152P +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3239820	NM_001048174.2(MUTYH):c.311T>C (p.Val104Ala)	MUTYH (V104A +9 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3239819	NM_001048174.2(MUTYH):c.705G>T (p.Trp235Cys)	MUTYH (W120C +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3239818	NM_001048174.2(MUTYH):c.1392+2C>G	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3239817	NM_001048174.2(MUTYH):c.246C>G (p.Asp82Glu)	MUTYH (D107E +8 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3239816	NM_001048174.2(MUTYH):c.554C>G (p.Pro185Arg)	MUTYH (P157R +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3236731	NM_001128425.2(MUTYH):c.36+103G>A	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233060	NM_001048174.2(MUTYH):c.53G>A (p.Ser18Asn)	MUTYH (S18N +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233059	NM_001048174.2(MUTYH):c.837G>T (p.Arg279=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233058	NM_001048174.2(MUTYH):c.797G>T (p.Arg266Leu)	MUTYH (R151L +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233057	NM_001048174.2(MUTYH):c.44A>C (p.Gln15Pro)	MUTYH (Q15P +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233056	NM_001048174.2(MUTYH):c.781G>C (p.Val261Leu)	MUTYH (V146L +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233055	NM_001048174.2(MUTYH):c.741A>C (p.Pro247=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233054	NM_001048174.2(MUTYH):c.740C>A (p.Pro247Gln)	MUTYH (P132Q +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233053	NM_001048174.2(MUTYH):c.734C>A (p.Ala245Asp)	MUTYH (A130D +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233052	NM_001048174.2(MUTYH):c.700C>T (p.Leu234Phe)	MUTYH (L119F +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3233051	NM_001048174.2(MUTYH):c.678C>A (p.Ser226Arg)	MUTYH (S111R +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233050	NM_001048174.2(MUTYH):c.616G>C (p.Val206Leu)	MUTYH (V114L +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233049	NM_001048174.2(MUTYH):c.607-5G>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233048	NM_001048174.2(MUTYH):c.516C>T (p.His172=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233047	NM_001048174.2(MUTYH):c.493G>A (p.Val165Met)	MUTYH (V137M +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233045	NM_001048174.2(MUTYH):c.406A>G (p.Ser136Gly)	MUTYH (S108G +10 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233044	NM_001048174.2(MUTYH):c.403G>C (p.Ala135Pro)	MUTYH (A107P +10 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233043	NM_001048174.2(MUTYH):c.380A>G (p.Lys127Arg)	MUTYH (K127R +10 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233042	NM_001048174.2(MUTYH):c.378+3G>C	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233041	NM_001048174.2(MUTYH):c.361T>C (p.Tyr121His)	MUTYH (Y121H +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233040	NM_001048174.2(MUTYH):c.303T>A (p.Ala101=)	MUTYH (L11Q)	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233039	NM_001048174.2(MUTYH):c.-6-3C>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233038	NM_001048174.2(MUTYH):c.264+5G>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3233037	NM_001048174.2(MUTYH):c.253T>G (p.Trp85Gly)	MUTYH (W100G +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233036	NM_001048174.2(MUTYH):c.237G>C (p.Glu79Asp)	MUTYH (E104D +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233035	NM_001048174.2(MUTYH):c.168_171delinsG (p.Tyr56_His57delinsTer)	MUTYH	Indel (nonsense +3 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233034	NM_001048174.2(MUTYH):c.137A>G (p.Glu46Gly)	MUTYH (E18G +8 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233033	NM_001128425.2(MUTYH):c.20G>C (p.Arg7Pro)	MUTYH, TOE1 (R7P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233032	NM_001128425.2(MUTYH):c.184C>G (p.Pro62Ala)	MUTYH (P45A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233031	NM_001048174.2(MUTYH):c.1491C>A (p.Gly497=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233030	NM_001048174.2(MUTYH):c.1471C>G (p.Arg491Gly)	MUTYH (R376G +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233029	NM_001048174.2(MUTYH):c.1461T>A (p.Ser487=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233028	NM_001048174.2(MUTYH):c.1408C>T (p.Gln470Ter)	MUTYH (Q355* +12 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233027	NM_001048174.2(MUTYH):c.1364C>A (p.Thr455Asn)	MUTYH (T340N +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233026	NM_001048174.2(MUTYH):c.1323A>T (p.Val441=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233025	NM_001048174.2(MUTYH):c.95C>A (p.Ala32Asp)	MUTYH (A32D +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233024	NM_001048174.2(MUTYH):c.1253T>A (p.Phe418Tyr)	MUTYH (F303Y +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233023	NM_001048174.2(MUTYH):c.1249A>T (p.Thr417Ser)	MUTYH (T302S +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233022	NM_001048174.2(MUTYH):c.1247A>T (p.His416Leu)	MUTYH (H301L +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233021	NM_001048174.2(MUTYH):c.1240-6_1240-3del	MUTYH	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233020	NM_001048174.2(MUTYH):c.1224C>A (p.Leu408=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233019	NM_001048174.2(MUTYH):c.1198G>T (p.Ala400Ser)	MUTYH (A285S +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233018	NM_001048174.2(MUTYH):c.1071C>A (p.Ala357=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233016	NM_001048174.2(MUTYH):c.994A>C (p.Arg332=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233015	NM_001048174.2(MUTYH):c.935A>C (p.His312Pro)	MUTYH (H197P +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3151353	NM_001048174.2(MUTYH):c.1474A>G (p.Lys492Glu)	MUTYH (K492E +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076031	NC_000001.11:g.45331557del	MUTYH	Deletion	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3075523	NM_001128425.2(MUTYH):c.189G>A (p.Gly63=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 3075241	NM_001048174.2(MUTYH):c.1085T>C (p.Val362Ala)	MUTYH (V247A +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3074953	NM_001128425.2(MUTYH):c.36+1G>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 3074808	NM_001048174.2(MUTYH):c.1098C>A (p.Asn366Lys)	MUTYH (N251K +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3074711	NM_001048174.2(MUTYH):c.1551C>T (p.Asn517=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 3074654	NM_001048174.2(MUTYH):c.756A>C (p.Gln252His)	MUTYH (Q137H +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

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