114034[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 583503	NC_000001.10:g.(?_45794968)_(45805936_?)dup	MUTYH, TOE1	Duplication	Familial adenomatous polyposis 2	GUncertain significance
Select item 509968	NM_025077.4(TOE1):c.-54G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 371683	NM_025077.4(TOE1):c.-54G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 182687	NM_025077.4(TOE1):c.-54G>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2759347	NM_025077.4(TOE1):c.-52A>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 492036	NM_025077.4(TOE1):c.-52A>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2802506	NM_025077.4(TOE1):c.-50C>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2037111	NM_025077.4(TOE1):c.-50C>A	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 1920557	NM_025077.4(TOE1):c.-50C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2787998	NM_025077.4(TOE1):c.-48C>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2855065	NM_025077.4(TOE1):c.-47A>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2843361	NM_025077.4(TOE1):c.-47A>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 492035	NM_025077.4(TOE1):c.-45G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 138310	NM_025077.4(TOE1):c.-45G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 7 +3 more	GConflicting classifications of pathogenicity
Select item 464715	NM_025077.4(TOE1):c.-44T>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
Select item 414154	NM_025077.4(TOE1):c.-44T>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2791228	NM_025077.4(TOE1):c.-43C>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 1649575	NM_025077.4(TOE1):c.-42del	MUTYH, TOE1	Deletion (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 920562	NM_025077.4(TOE1):c.-43C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 628379	NM_025077.4(TOE1):c.-43C>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 414146	NM_025077.4(TOE1):c.-42C>T	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 533324	NM_025077.4(TOE1):c.-41A>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 492037	NM_025077.4(TOE1):c.-41A>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2696355	NM_025077.4(TOE1):c.-40G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 464716	NM_025077.4(TOE1):c.-40G>C	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +1 more	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 2017177	NM_025077.4(TOE1):c.-39C>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1423553	NM_025077.4(TOE1):c.-39C>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 573559	NM_025077.4(TOE1):c.-38dup	MUTYH, TOE1	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 230475	NM_025077.4(TOE1):c.-39C>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1960554	NM_025077.4(TOE1):c.-38G>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 480005	NM_025077.4(TOE1):c.-38G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 246019	NM_025077.4(TOE1):c.-38G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 862790	NM_025077.4(TOE1):c.-37T>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 234074	NM_025077.4(TOE1):c.-37T>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 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 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 485902	NM_001128425.2(MUTYH):c.36+1G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
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 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 483936	NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	MUTYH, TOE1 (W12*)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
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 422159	NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	MUTYH, TOE1 (W12*)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
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 406861	NM_001128425.2(MUTYH):c.34T>C (p.Trp12Arg)	TOE1, MUTYH (W12R)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
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 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 823495	NM_001128425.2(MUTYH):c.32T>G (p.Leu11Arg)	TOE1, MUTYH (L11R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +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 238344	NM_001128425.2(MUTYH):c.31C>G (p.Leu11Val)	MUTYH, TOE1 (L11V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	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 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 464709	NM_001128425.2(MUTYH):c.29G>A (p.Arg10His)	TOE1, MUTYH (R10H)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 2042680	NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)	TOE1, MUTYH (S9fs)	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
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 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 2843230	NM_001128425.2(MUTYH):c.27T>A (p.Ser9Arg)	TOE1, MUTYH (S9R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 645927	NM_001128425.2(MUTYH):c.26G>A (p.Ser9Asn)	TOE1, MUTYH (S9N)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 821374	NM_001128425.2(MUTYH):c.24G>C (p.Leu8=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 2121748	NM_001128425.2(MUTYH):c.23T>C (p.Leu8Pro)	TOE1, MUTYH (L8P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 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 414151	NM_001128425.2(MUTYH):c.22C>T (p.Leu8=)	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	MUTYH-related condition +3 more	GLikely benign
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 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 428284	NM_001128425.2(MUTYH):c.20G>T (p.Arg7Leu)	TOE1, MUTYH (R7L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 576017	NM_001128425.2(MUTYH):c.19C>T (p.Arg7Cys)	TOE1, MUTYH (R7C)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 230893	NM_001128425.2(MUTYH):c.17C>G (p.Ser6Cys)	TOE1, MUTYH (S6C)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142941	NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)	MUTYH, TOE1 (S6Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Gastric cancer +4 more	GUncertain significance
Select item 464704	NM_001128425.2(MUTYH):c.15C>A (p.Val5=)	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 533299	NM_001128425.2(MUTYH):c.14T>C (p.Val5Ala)	TOE1, MUTYH (V5A)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
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 630514	NM_001128425.2(MUTYH):c.13G>A (p.Val5Ile)	TOE1, MUTYH (V5I)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 185106	NM_001128425.2(MUTYH):c.13G>C (p.Val5Leu)	MUTYH, TOE1 (V5L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	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 232355	NM_001128425.2(MUTYH):c.12C>A (p.Leu4=)	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
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 420894	NM_001128425.2(MUTYH):c.9_10delinsAA (p.Leu4Ile)	TOE1, MUTYH (L4I)	Indel (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142356	NM_001128425.2(MUTYH):c.10C>G (p.Leu4Val)	MUTYH, TOE1 (L4V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	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 481801	NM_001128425.2(MUTYH):c.9G>T (p.Pro3=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 959701	NM_025077.4(TOE1):c.-4_3dup (p.Ala2fs)	MUTYH, TOE1 (P3fs +1 more)	Duplication (frameshift variant +3 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 480012	NM_001128425.2(MUTYH):c.8C>G (p.Pro3Arg)	MUTYH, TOE1 (P3R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 233944	NM_001128425.2(MUTYH):c.8C>T (p.Pro3Leu)	MUTYH, TOE1 (P3L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231322	NM_001128425.2(MUTYH):c.7C>G (p.Pro3Ala)	MUTYH, TOE1 (P3A)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1001180	NM_001128425.2(MUTYH):c.4A>C (p.Thr2Pro)	TOE1, MUTYH (T2P)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2	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 920563	NM_001128425.2(MUTYH):c.3G>A (p.Met1Ile)	TOE1, MUTYH (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1009956	NM_025077.4(TOE1):c.1A>T (p.Met1Leu)	MUTYH, TOE1 (M1K +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 406866	NM_025077.4(TOE1):c.1A>C (p.Met1Leu)	TOE1, MUTYH (M1R +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 230848	NM_025077.4(TOE1):c.1A>G (p.Met1Val)	MUTYH, TOE1 (M1T +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 1372964	NM_025077.4(TOE1):c.2T>G (p.Met1Arg)	TOE1, MUTYH (M1L +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 859836	NM_025077.4(TOE1):c.2T>C (p.Met1Thr)	MUTYH, TOE1 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance

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