"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MUTYH"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41755	NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)	MUTYH (S515F +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 142440	NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	MUTYH (R495H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
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 182701	NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 186129	NM_001048174.2(MUTYH):c.1351G>A (p.Glu451Lys)	MUTYH (E479K +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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 492713	NM_001048174.2(MUTYH):c.930G>T (p.Gln310His)	MUTYH (Q338H +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 41767	NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)	MUTYH (Q338H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 927154	NM_001048174.2(MUTYH):c.683C>G (p.Thr228Ser)	MUTYH (T229S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 927155	NM_001048174.2(MUTYH):c.677G>C (p.Ser226Thr)	MUTYH (S111T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 187628	NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)	MUTYH (V239I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	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)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 234180	NM_001048174.2(MUTYH):c.305-4C>A	MUTYH	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 464711	NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro)	MUTYH (R109P +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 257528	NM_001048174.2(MUTYH):c.115+30A>G	MUTYH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1046297	NM_001048174.2(MUTYH):c.50C>A (p.Ala17Asp)	MUTYH (A31D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 41760	NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)	MUTYH (V22M +1 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +4 more	GBenign
Select item 142941	NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)	TOE1, MUTYH (S6Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity

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Items: 20