C3272841[trait identifier] AND "Laboratorio de Genetica e Diagnostico - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134864	NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)	MUTYH (R437W +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 135990	NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	MUTYH (V246F +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +3 more	GConflicting classifications of pathogenicity
Select item 187280	NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	MUTYH (R182C +8 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
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 140814	NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)	MUTYH (D161H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 142198	NM_000455.5(STK11):c.1012G>A (p.Val338Met)	LOC130062899, STK11 (V338M)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +6 more	GConflicting classifications of pathogenicity