Related gene-specific medical variations for Gene (Select 114034) - 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 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 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]	TOE1, MUTYH (A3del)	Microsatellite (inframe_deletion +2 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 3068216	NM_025077.4(TOE1):c.974T>C (p.Ile325Thr)	TOE1 (I325T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	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	MUTYH, TOE1	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 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)	Inborn genetic diseases +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)	Familial adenomatous polyposis 2 +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	TOE1, MUTYH	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)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +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)	MUTYH, TOE1 (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)	MUTYH, TOE1 (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 1325214	NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter)	TOE1 (R340*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
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)	MUTYH, TOE1 (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 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)	MUTYH, TOE1 (W12R)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 930764	NM_025077.4(TOE1):c.913-2A>G	TOE1	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 926570	NM_001128425.2(MUTYH):c.28C>T (p.Arg10Cys)	TOE1, MUTYH (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)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 919234	NM_001128425.2(MUTYH):c.13G>T (p.Val5Phe)	TOE1, MUTYH (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 (intron 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)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +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)	MUTYH, TOE1 (L8R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 801485	NM_001128425.2(MUTYH):c.-180T>C	MUTYH, TOE1	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)	Familial adenomatous polyposis 2 +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)	Familial adenomatous polyposis 2 +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)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 628333	NM_001128425.2(MUTYH):c.-19A>G	MUTYH, TOE1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 619704	NM_001128425.2(MUTYH):c.-2C>G	MUTYH, TOE1 (A2P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 576017	NM_001128425.2(MUTYH):c.19C>T (p.Arg7Cys)	MUTYH, TOE1 (R7C)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 573559	NM_001128425.2(MUTYH):c.36+4dup	MUTYH, TOE1	Duplication (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 533329	NM_001128425.2(MUTYH):c.31C>T (p.Leu11=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 533324	NM_001128425.2(MUTYH):c.36+7T>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 533299	NM_001128425.2(MUTYH):c.14T>C (p.Val5Ala)	MUTYH, TOE1 (V5A)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 509968	NM_001128425.2(MUTYH):c.36+20C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 509625	NM_001128425.2(MUTYH):c.-37G>A	MUTYH, TOE1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 492037	NM_001128425.2(MUTYH):c.36+7T>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 492036	NM_001128425.2(MUTYH):c.36+18T>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 492035	NM_001128425.2(MUTYH):c.36+11C>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 492030	NM_001128425.2(MUTYH):c.29G>C (p.Arg10Pro)	MUTYH, TOE1 (R10P)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 490028	NM_001128425.2(MUTYH):c.-3G>T	MUTYH, TOE1 (A2D)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 485902	NM_001128425.2(MUTYH):c.36+1G>A	MUTYH, TOE1	Single nucleotide variant (splice donor variant +2 more)	not provided +2 more	GLikely pathogenic
Select item 483936	NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	MUTYH, TOE1 (W12*)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic/Likely pathogenic
Select item 481801	NM_001128425.2(MUTYH):c.9G>T (p.Pro3=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GLikely benign
Select item 480012	NM_001128425.2(MUTYH):c.8C>G (p.Pro3Arg)	MUTYH, TOE1 (P3R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 480005	NM_001128425.2(MUTYH):c.36+4C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 464742	NM_001128425.2(MUTYH):c.9G>A (p.Pro3=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 464716	NM_001128425.2(MUTYH):c.36+6C>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 464715	NM_001128425.2(MUTYH):c.36+10A>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
Select item 464709	NM_001128425.2(MUTYH):c.29G>A (p.Arg10His)	MUTYH, TOE1 (R10H)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance

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