"MUTYH-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 392421	NM_001048174.2(MUTYH):c.1524C>T (p.His508=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	MUTYH-related disorder +3 more	GLikely benign
Select item 185573	NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)	MUTYH (R523C +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184566	NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 219953	NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	MUTYH (V350F +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 238337	NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)	MUTYH (E479* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 187067	NM_001048174.2(MUTYH):c.1320C>T (p.Thr440=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 187485	NM_001048174.2(MUTYH):c.1311A>C (p.Pro437=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 230810	NM_001048174.2(MUTYH):c.1196G>T (p.Trp399Leu)	MUTYH (W427L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127831	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH (E383fs +7 more)	Duplication (frameshift variant +1 more)	MUTYH-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +8 more	GPathogenic/Likely pathogenic
Select item 801475	NM_001048174.2(MUTYH):c.1103-27C>T	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 140874	NM_001048174.2(MUTYH):c.1102+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	MUTYH-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	Familial colorectal cancer +4 more	GPathogenic/Likely pathogenic
Select item 41751	NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)	MUTYH (A359V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 233206	NM_001048174.2(MUTYH):c.1015C>G (p.Pro339Ala)	MUTYH (P367A +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 135980	NM_001048174.2(MUTYH):c.1007G>A (p.Arg336His)	MUTYH (R364H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 246011	NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser)	MUTYH (N357S +7 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related disorder +3 more	GUncertain significance
Select item 391079	NM_001048174.2(MUTYH):c.951C>T (p.Pro317=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +3 more	GLikely benign
Select item 492066	NM_001048174.2(MUTYH):c.914-19C>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 231875	NM_001048174.2(MUTYH):c.903G>C (p.Val301=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +4 more	GLikely benign
Select item 216524	NM_001048174.2(MUTYH):c.852G>A (p.Val284=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41766	NM_001048174.2(MUTYH):c.850-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2630561	NM_001048174.2(MUTYH):c.814T>C (p.Cys272Arg)	MUTYH (C157R +12 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related disorder	GUncertain significance
Select item 182699	NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 414155	NM_001048174.2(MUTYH):c.684C>T (p.Thr228=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 464738	NM_001048174.2(MUTYH):c.683C>T (p.Thr228Ile)	MUTYH (T256I +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Breast carcinoma +7 more	GPathogenic/Likely pathogenic
Select item 184309	NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 183989	NM_001048174.2(MUTYH):c.573A>C (p.Thr191=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 392475	NM_001048174.2(MUTYH):c.558C>T (p.Gly186=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	MUTYH-related disorder +3 more	GLikely benign
Select item 826254	NM_001048174.2(MUTYH):c.537C>A (p.Thr179=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 238350	NM_001048174.2(MUTYH):c.492+8G>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +4 more	GLikely benign
Select item 182689	NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	MUTYH (R182H +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +5 more	GPathogenic
Select item 2630352	NM_001048174.2(MUTYH):c.459T>G (p.Ser153=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	MUTYH-related disorder	GUncertain significance
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 480003	NM_001048174.2(MUTYH):c.439G>T (p.Ala147Ser)	MUTYH (A175S +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1697949	NM_001048174.2(MUTYH):c.420+34C>T	MUTYH	Single nucleotide variant (intron variant)	MUTYH-related disorder +1 more	GLikely benign
Select item 492045	NM_001048174.2(MUTYH):c.420+16G>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 185959	NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr)	MUTYH (A165T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 140814	NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)	MUTYH (D161H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 187674	NM_001048174.2(MUTYH):c.366C>T (p.Thr122=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 184168	NM_001048174.2(MUTYH):c.325C>T (p.Leu109=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 216521	NM_001048174.2(MUTYH):c.305-7C>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 230617	NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 183816	NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 186528	NM_001048174.2(MUTYH):c.21C>T (p.Ala7=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	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 414151	NM_001128425.2(MUTYH):c.22C>T (p.Leu8=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign

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Items: 53