Related gene-specific medical variations for Gene (Select 7167) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362762	NM_000365.6(TPI1):c.698G>C (p.Gly233Ala)	TPI1 (G151A +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 3065734	NM_000365.6(TPI1):c.32del (p.Gly11fs)	TPI1 (G11fs +1 more)	Deletion (frameshift variant)	Triosephosphate isomerase deficiency	GLikely pathogenic
Select item 2690256	NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)	TPI1 (R53Q +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2690255	NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)	TPI1 (T113S +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437194	NM_000365.6(TPI1):c.182C>T (p.Ala61Val)	TPI1 (A61V +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437193	NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)	TPI1 (W13R +1 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437192	NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)	TPI1 (K160E +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437191	NM_000365.6(TPI1):c.453C>G (p.Ile151Met)	TPI1 (I151M +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437190	NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)	TPI1 (P143T +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437189	NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)	TPI1 (A137P +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 1809736	NM_000365.6(TPI1):c.49G>A (p.Gly17Arg)	TPI1 (G17R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564028	NM_000365.6(TPI1):c.115+22del	LOC130007280, TPI1	Deletion (intron variant)	not provided	GBenign
Select item 1485685	NM_000365.6(TPI1):c.115+17G>T	LOC130007280, TPI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1330792	NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)	TPI1 (I128T +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 1330436	NM_000365.6(TPI1):c.690C>T (p.Phe230=)	TPI1	Single nucleotide variant (synonymous variant)	Triosephosphate isomerase deficiency	GLikely benign
Select item 1279063	NM_000365.6(TPI1):c.115+224T>C	LOC130007280, TPI1	Single nucleotide variant (intron variant)	not provided	GBenign