"Ambry Genetics"[submitter] AND "TPI1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328283	NM_000365.6(TPI1):c.79G>C (p.Gly27Arg)	TPI1 (G27R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181540	NM_000365.6(TPI1):c.130C>T (p.Pro44Ser)	TPI1 (P44S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268658	NM_000365.6(TPI1):c.269C>T (p.Thr90Met)	TPI1 (T8M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269675	NM_000365.6(TPI1):c.292G>A (p.Glu98Lys)	TPI1 (E98K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399754	NM_000365.6(TPI1):c.434T>C (p.Phe145Ser)	TPI1 (F182S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284974	NM_000365.6(TPI1):c.477C>G (p.Ser159Arg)	TPI1 (S77R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264814	NM_000365.6(TPI1):c.491C>A (p.Ala164Asp)	TPI1 (A164D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 881845	NM_000365.6(TPI1):c.599C>T (p.Ala200Val)	TPI1 (A200V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1514789	NM_000365.6(TPI1):c.613A>T (p.Thr205Ser)	TPI1 (T205S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3328284	NM_000365.6(TPI1):c.667A>G (p.Ser223Gly)	TPI1 (S223G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance