mutyh c.1187g>a - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142138	NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr)	MUTYH (A489T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1754335	NM_001048174.2(MUTYH):c.1142G>A (p.Trp381Ter)	MUTYH (W353* +12 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Ovarian carcinoma +8 more	GPathogenic/Likely pathogenic
Select item 182693	NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp)	MUTYH (C306W +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1025964	NM_001048174.2(MUTYH):c.815G>T (p.Cys272Phe)	MUTYH (C157F +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 141595	NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)	MUTYH (G183D +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 186819	NM_001048174.2(MUTYH):c.305-1G>A	MUTYH	Single nucleotide variant (splice acceptor variant +1 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic
Select item 183913	NM_000179.3(MSH6):c.2154C>T (p.Ser718=)	MSH6	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 182541	NM_000249.4(MLH1):c.1269G>A (p.Arg423=)	MLH1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 240525	NM_006231.4(POLE):c.4523G>A (p.Arg1508His)	POLE (R1508H)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GConflicting classifications of pathogenicity
Select item 418703	NM_000059.4(BRCA2):c.4254A>G (p.Ile1418Met)	BRCA2 (I1418M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 52024	NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile)	BRCA2 (F2058I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 138873	NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)	RAD51D, RAD51L3-RFFL (E233G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +3 more	GBenign/Likely benign
Select item 133752	NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	BRIP1 (Q740H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 127938	NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu)	AXIN2 (S651L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign