"Ambry Genetics"[submitter] AND "TXK"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2274586	NM_003328.3(TXK):c.1555G>A (p.Ala519Thr)	TXK (A519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335068	NM_003328.3(TXK):c.1552C>T (p.Arg518Trp)	TXK (R518W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301912	NM_003328.3(TXK):c.1543G>A (p.Glu515Lys)	TXK (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185096	NM_003328.3(TXK):c.1512T>G (p.His504Gln)	TXK (H504Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330340	NM_003328.3(TXK):c.1471G>A (p.Ala491Thr)	TXK (A491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185095	NM_003328.3(TXK):c.1435A>G (p.Ile479Val)	TXK (I479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489073	NM_003328.3(TXK):c.1426G>A (p.Val476Met)	TXK (V476M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185094	NM_003328.3(TXK):c.1414A>G (p.Asn472Asp)	TXK (N472D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606389	NM_003328.3(TXK):c.1414A>C (p.Asn472His)	TXK (N472H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185092	NM_003328.3(TXK):c.1361T>A (p.Val454Asp)	TXK (V454D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185091	NM_003328.3(TXK):c.1264A>G (p.Ser422Gly)	TXK (S422G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185090	NM_003328.3(TXK):c.1195A>G (p.Ser399Gly)	TXK (S399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185089	NM_003328.3(TXK):c.1187G>A (p.Cys396Tyr)	TXK (C396Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243908	NM_003328.3(TXK):c.1180A>G (p.Arg394Gly)	TXK (R394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605628	NM_003328.3(TXK):c.1103T>A (p.Leu368Gln)	TXK (L368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376007	NM_003328.3(TXK):c.1061A>C (p.Tyr354Ser)	TXK (Y354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264700	NM_003328.3(TXK):c.959A>G (p.Lys320Arg)	TXK (K320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278709	NM_003328.3(TXK):c.958A>C (p.Lys320Gln)	TXK (K320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185100	NM_003328.3(TXK):c.905A>G (p.Asn302Ser)	TXK (N302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238178	NM_003328.3(TXK):c.877C>T (p.His293Tyr)	TXK (H293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569019	NM_003328.3(TXK):c.836G>A (p.Ser279Asn)	TXK (S279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412011	NM_003328.3(TXK):c.793G>A (p.Glu265Lys)	TXK (E265K)	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 3185099	NM_003328.3(TXK):c.670A>G (p.Ile224Val)	LOC126807050, TXK (I224V)	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
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 2383747	NM_003328.3(TXK):c.598A>G (p.Ile200Val)	LOC126807050, TXK (I200V)	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 2351767	NM_003328.3(TXK):c.562G>A (p.Val188Ile)	TXK (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213181	NM_003328.3(TXK):c.514G>T (p.Ala172Ser)	TXK (A172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185098	NM_003328.3(TXK):c.442T>C (p.Tyr148His)	TXK (Y148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2597355	NM_003328.3(TXK):c.373C>T (p.Arg125Cys)	LOC126807051, TXK (R125C)	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 2491718	NM_003328.3(TXK):c.220C>T (p.Pro74Ser)	LOC126807051, TXK (P74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3330337	NM_003328.3(TXK):c.85C>G (p.Gln29Glu)	TXK (Q29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301472	NM_003328.3(TXK):c.29A>G (p.Gln10Arg)	TXK (Q10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 38