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

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330339	NM_003328.3(TXK):c.125A>G (p.Tyr42Cys)	LOC126807051, TXK (Y42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330338	NM_003328.3(TXK):c.587C>T (p.Thr196Met)	LOC126807050, TXK (T196M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330336	NM_003328.3(TXK):c.374G>A (p.Arg125His)	LOC126807051, TXK (R125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	LOC126807050, TXK (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