"Ambry Genetics"[submitter] AND "TNK1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2338492	NM_003985.6(TNK1):c.44G>C (p.Arg15Pro)	TNK1 (R15P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283307	NM_003985.6(TNK1):c.98C>T (p.Thr33Ile)	TNK1 (T33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253150	NM_003985.6(TNK1):c.142G>A (p.Gly48Ser)	TNK1 (G48S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2474842	NM_003985.6(TNK1):c.312G>T (p.Glu104Asp)	TNK1 (E104D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487935	NM_003985.6(TNK1):c.405G>T (p.Trp135Cys)	TNK1 (W135C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402105	NM_003985.6(TNK1):c.407C>T (p.Thr136Met)	TNK1 (T136M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213156	NM_003985.6(TNK1):c.460C>T (p.Pro154Ser)	TNK1 (P154S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541564	NM_003985.6(TNK1):c.535C>T (p.His179Tyr)	TNK1 (H179Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216054	NM_003985.6(TNK1):c.545G>A (p.Arg182His)	TNK1 (R182H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484080	NM_003985.6(TNK1):c.643C>T (p.Pro215Ser)	TNK1 (P215S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279368	NM_003985.6(TNK1):c.675C>A (p.Phe225Leu)	TNK1 (F225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263286	NM_003985.6(TNK1):c.779A>G (p.Lys260Arg)	LOC130060140, TNK1 (K260R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293085	NM_003985.6(TNK1):c.851C>G (p.Pro284Arg)	LOC130060140, TNK1 (P284R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210725	NM_003985.6(TNK1):c.1071G>T (p.Leu357Phe)	TNK1 (L357F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386763	NM_003985.6(TNK1):c.1091C>T (p.Pro364Leu)	TNK1 (P364L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302904	NM_003985.6(TNK1):c.1186G>T (p.Ala396Ser)	TNK1 (A396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216170	NM_003985.6(TNK1):c.1239C>G (p.Asp413Glu)	TNK1 (D413E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221766	NM_003985.6(TNK1):c.1267C>T (p.Arg423Cys)	TNK1 (R428C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368674	NM_003985.6(TNK1):c.1307C>T (p.Thr436Met)	TNK1 (T441M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346952	NM_003985.6(TNK1):c.1406A>G (p.Lys469Arg)	TNK1 (K474R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366519	NM_003985.6(TNK1):c.1520G>A (p.Arg507His)	TNK1 (R507H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209313	NM_003985.6(TNK1):c.1556G>A (p.Arg519Gln)	TNK1 (R519Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467382	NM_003985.6(TNK1):c.1603C>T (p.Pro535Ser)	TNK1 (P535S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306768	NM_003985.6(TNK1):c.1900C>T (p.Arg634Trp)	TNK1 (R639W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283547	NM_003985.6(TNK1):c.1921C>A (p.Arg641Ser)	TNK1 (R646S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335709	NM_003985.6(TNK1):c.1963C>T (p.Arg655Cys)	TNK1 (R655C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224391	NM_003985.6(TNK1):c.1964G>A (p.Arg655His)	TNK1 (R655H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 27