Related gene-specific medical variations for Gene (Select 4595) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3233033	NM_001128425.2(MUTYH):c.20G>C (p.Arg7Pro)	TOE1, MUTYH (R7P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	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 3072052	NM_001128425.2(MUTYH):c.-3G>C	MUTYH, TOE1 (A2G)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071971	NM_001128425.2(MUTYH):c.-7GGC[1]	MUTYH, TOE1 (A3del)	Microsatellite (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3071871	NM_001128425.2(MUTYH):c.-10G>A	MUTYH, TOE1	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3064807	NM_001048174.2(MUTYH):c.168C>T (p.Tyr56=)	MUTYH	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3022792	NM_001128425.2(MUTYH):c.22C>G (p.Leu8Val)	MUTYH, TOE1 (L8V)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2865447	NM_001128425.2(MUTYH):c.14_36+4dup	MUTYH, TOE1	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2855065	NM_001128425.2(MUTYH):c.36+13T>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2843361	NM_001128425.2(MUTYH):c.36+13T>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2843230	NM_001128425.2(MUTYH):c.27T>A (p.Ser9Arg)	MUTYH, TOE1 (S9R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2841140	NM_001128425.2(MUTYH):c.30T>C (p.Arg10=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2802506	NM_001128425.2(MUTYH):c.36+16G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2791228	NM_001128425.2(MUTYH):c.36+9G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2787998	NM_001128425.2(MUTYH):c.36+14G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2773696	NM_001128425.2(MUTYH):c.-7G>A	MUTYH, TOE1	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 2759347	NM_001128425.2(MUTYH):c.36+18T>A	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2696355	NM_001128425.2(MUTYH):c.36+6C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2682029	NM_001048174.2(MUTYH):c.309G>T (p.Trp103Cys)	MUTYH (W103C +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2676906	NM_001048174.2(MUTYH):c.1033dup (p.Ala345fs)	MUTYH (A230fs +12 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2676905	NM_001048174.2(MUTYH):c.116-8_124delinsTCAGCCG	MUTYH (P48fs +4 more)	Indel (splice acceptor variant +2 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2676904	NM_001048174.2(MUTYH):c.1130del (p.Pro377fs)	MUTYH (P262fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2676902	NM_001048174.2(MUTYH):c.376C>T (p.Gln126Ter)	MUTYH (Q126* +9 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2676901	NM_001048174.2(MUTYH):c.378+1G>A	MUTYH	Single nucleotide variant (splice donor variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2676900	NM_001048174.2(MUTYH):c.849+2T>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2676899	NM_001048174.2(MUTYH):c.913+84G>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2676897	NM_001048174.2(MUTYH):c.85_90del (p.Asn29_Ser30del)	MUTYH	Deletion (inframe deletion +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2676896	NM_001048174.2(MUTYH):c.473T>G (p.Leu158Arg)	MUTYH (L158R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2676895	NM_001048174.2(MUTYH):c.544C>G (p.Gln182Glu)	MUTYH (Q154E +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2676894	NM_001048174.2(MUTYH):c.1516del (p.Arg506fs)	MUTYH (R391fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2676891	NM_001048174.2(MUTYH):c.1357T>C (p.Phe453Leu)	MUTYH (F338L +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2676890	NM_001048174.2(MUTYH):c.379-8G>A	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2663366	NM_001128425.2(MUTYH):c.-6G>T	MUTYH, TOE1 (A3D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2437176	NM_025077.4(TOE1):c.20A>G (p.Asp7Gly)	MUTYH, TOE1 (D7G)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 2389410	NM_025077.4(TOE1):c.19G>A (p.Asp7Asn)	MUTYH, TOE1 (D7N)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2121748	NM_001128425.2(MUTYH):c.23T>C (p.Leu8Pro)	MUTYH, TOE1 (L8P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2084284	NM_001128425.2(MUTYH):c.32T>C (p.Leu11Pro)	MUTYH, TOE1 (L11P)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2042680	NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)	MUTYH, TOE1 (S9fs)	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2037111	NM_001128425.2(MUTYH):c.36+16G>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2017177	NM_001128425.2(MUTYH):c.36+5G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2007244	NM_025077.4(TOE1):c.4G>A (p.Ala2Thr)	MUTYH, TOE1 (A2T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1960554	NM_001128425.2(MUTYH):c.36+4C>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1920557	NM_001128425.2(MUTYH):c.36+16G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 1801677	NM_001128425.2(MUTYH):c.36+1G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Gastric cancer	GPathogenic
Select item 1801613	NM_001128425.2(MUTYH):c.36+1del	MUTYH, TOE1	Deletion (5 prime UTR variant +2 more)	Gastric cancer	GPathogenic
Select item 1750994	NM_001128425.2(MUTYH):c.-5C>T	MUTYH, TOE1 (A3T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736909	NM_001128425.2(MUTYH):c.3G>C (p.Met1Ile)	MUTYH, TOE1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1733089	NM_001128425.2(MUTYH):c.36+2T>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 1731040	NM_001128425.2(MUTYH):c.33G>A (p.Leu11=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 1649575	NM_001128425.2(MUTYH):c.36+9del	MUTYH, TOE1	Deletion (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 1522656	NM_001128425.2(MUTYH):c.20G>A (p.Arg7His)	MUTYH, TOE1 (R7H)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1498998	NM_001128425.2(MUTYH):c.36G>T (p.Trp12Cys)	MUTYH, TOE1 (W12C)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1455323	NM_001128425.2(MUTYH):c.21C>T (p.Arg7=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 1449503	NM_001128425.2(MUTYH):c.5C>T (p.Thr2Ile)	TOE1, MUTYH (T2I)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1423553	NM_001128425.2(MUTYH):c.36+5G>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1372964	NM_001128425.2(MUTYH):c.1A>C (p.Met1Leu)	TOE1, MUTYH (M1L +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1358366	NM_001128425.2(MUTYH):c.36G>C (p.Trp12Cys)	MUTYH, TOE1 (W12C)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1330005	NM_001048174.2(MUTYH):c.1330G>T (p.Gly444Cys)	MUTYH (G329C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1171396	NM_001128425.2(MUTYH):c.-3G>A	MUTYH, TOE1 (A2V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1094815	NM_001128425.2(MUTYH):c.12C>T (p.Leu4=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 1009956	NM_001128425.2(MUTYH):c.2T>A (p.Met1Lys)	TOE1, MUTYH (M1K +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1001180	NM_001128425.2(MUTYH):c.4A>C (p.Thr2Pro)	MUTYH, TOE1 (T2P)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 995591	NM_001048174.2(MUTYH):c.116-75C>T	MUTYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 959701	NM_001128425.2(MUTYH):c.1_7dup (p.Pro3fs)	MUTYH, TOE1 (P3fs +1 more)	Duplication (frameshift variant +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 945775	NM_001128425.2(MUTYH):c.19C>G (p.Arg7Gly)	MUTYH, TOE1 (R7G)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 938146	NM_001128425.2(MUTYH):c.34T>A (p.Trp12Arg)	TOE1, MUTYH (W12R)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 926570	NM_001128425.2(MUTYH):c.28C>T (p.Arg10Cys)	MUTYH, TOE1 (R10C)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 925955	NM_001128425.2(MUTYH):c.-13A>T	MUTYH, TOE1 (S5R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 925304	NM_001128425.2(MUTYH):c.-11T>C	TOE1, MUTYH (S5G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 920564	NM_001128425.2(MUTYH):c.-15T>C	TOE1, MUTYH (D6G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 920563	NM_001128425.2(MUTYH):c.3G>A (p.Met1Ile)	MUTYH, TOE1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 920562	NM_001128425.2(MUTYH):c.36+9G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 919234	NM_001128425.2(MUTYH):c.13G>T (p.Val5Phe)	MUTYH, TOE1 (V5F)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 874445	NM_001128425.2(MUTYH):c.-165C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 862790	NM_001128425.2(MUTYH):c.36+3A>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 859836	NM_001128425.2(MUTYH):c.1A>G (p.Met1Val)	MUTYH, TOE1 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 823977	NM_001128425.2(MUTYH):c.35G>C (p.Trp12Ser)	MUTYH, TOE1 (W12S)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823601	NM_001128425.2(MUTYH):c.9G>C (p.Pro3=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 823495	NM_001128425.2(MUTYH):c.32T>G (p.Leu11Arg)	MUTYH, TOE1 (L11R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 821965	NM_001128425.2(MUTYH):c.28C>A (p.Arg10Ser)	MUTYH, TOE1 (R10S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 821374	NM_001128425.2(MUTYH):c.24G>C (p.Leu8=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 821219	NM_001128425.2(MUTYH):c.23T>G (p.Leu8Arg)	TOE1, MUTYH (L8R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 801485	NM_001128425.2(MUTYH):c.-180T>C	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 801484	NM_001128425.2(MUTYH):c.-147C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 801483	NM_001128425.2(MUTYH):c.-126T>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 645927	NM_001128425.2(MUTYH):c.26G>A (p.Ser9Asn)	MUTYH, TOE1 (S9N)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 630514	NM_001128425.2(MUTYH):c.13G>A (p.Val5Ile)	MUTYH, TOE1 (V5I)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 628380	NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe)	MUTYH, TOE1 (L4F)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 628379	NM_001128425.2(MUTYH):c.36+9G>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign

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