Related gene-specific medical variations for Gene (Select 7294) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185099	NM_003328.3(TXK):c.670A>G (p.Ile224Val)	LOC126807050, TXK (I224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597355	NM_003328.3(TXK):c.373C>T (p.Arg125Cys)	LOC126807051, TXK (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491718	NM_003328.3(TXK):c.220C>T (p.Pro74Ser)	LOC126807051, TXK (P74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383747	NM_003328.3(TXK):c.598A>G (p.Ile200Val)	LOC126807050, TXK (I200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302580	NM_003328.3(TXK):c.683T>A (p.Ile228Asn)	LOC126807050, TXK (I228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279112	NM_003328.3(TXK):c.639G>T (p.Trp213Cys)	TXK, LOC126807050 (W213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267621	NM_003328.3(TXK):c.367A>G (p.Arg123Gly)	LOC126807051, TXK (R123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220769	NM_003328.3(TXK):c.665A>G (p.Gln222Arg)	LOC126807050, TXK (Q222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar