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

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181558	NM_001206744.2(TPO):c.38T>C (p.Met13Thr)	TPO (M13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328296	NM_001206744.2(TPO):c.47C>T (p.Thr16Ile)	TPO (T16I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527631	NM_001206744.2(TPO):c.47C>A (p.Thr16Lys)	TPO (T16K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328298	NM_001206744.2(TPO):c.71C>T (p.Ser24Leu)	TPO (S24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 893324	NM_001206744.2(TPO):c.266G>A (p.Arg89Gln)	TPO (R89Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3181559	NM_001206744.2(TPO):c.411G>A (p.Met137Ile)	TPO (M137I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3181560	NM_001206744.2(TPO):c.469G>A (p.Ala157Thr)	TPO (A157T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244078	NM_001206744.2(TPO):c.601C>A (p.Pro201Thr)	TPO (P201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284129	NM_001206744.2(TPO):c.673C>T (p.Arg225Cys)	TPO (R225C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395430	NM_001206744.2(TPO):c.724G>A (p.Ala242Thr)	TPO (A242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354069	NM_001206744.2(TPO):c.832G>C (p.Ala278Pro)	TPO (A278P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225091	NM_001206744.2(TPO):c.853G>A (p.Ala285Thr)	TPO (A285T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245523	NM_001206744.2(TPO):c.938C>T (p.Pro313Leu)	TPO (P313L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278120	NM_001206744.2(TPO):c.1111G>A (p.Ala371Thr)	TPO (A371T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481065	NM_001206744.2(TPO):c.1220A>C (p.His407Pro)	TPO (H407P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328299	NM_001206744.2(TPO):c.1287C>G (p.Ser429Arg)	TPO (S429R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 331316	NM_001206744.2(TPO):c.1294G>A (p.Ala432Thr)	TPO (A432T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3181553	NM_001206744.2(TPO):c.1534C>T (p.Pro512Ser)	TPO (P512S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296931	NM_001206744.2(TPO):c.1616T>C (p.Ile539Thr)	TPO (I539T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472028	NM_001206744.2(TPO):c.1619G>A (p.Arg540Gln)	TPO (R540Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328043	NM_001206744.2(TPO):c.1810G>A (p.Glu604Lys)	TPO (E431K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727826	NM_001206744.2(TPO):c.1813A>T (p.Thr605Ser)	TPO (T432S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2357680	NM_001206744.2(TPO):c.1840G>A (p.Ala614Thr)	TPO (A441T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2256362	NM_001206744.2(TPO):c.1855G>A (p.Ala619Thr)	TPO (A562T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218845	NM_001206744.2(TPO):c.2029G>A (p.Val677Ile)	TPO (V620I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383015	NM_001206744.2(TPO):c.2152T>G (p.Phe718Val)	TPO (F545V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 331365	NM_001206744.2(TPO):c.2212C>G (p.Gln738Glu)	TPO (Q738E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3181554	NM_001206744.2(TPO):c.2213A>G (p.Gln738Arg)	TPO (Q681R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330610	NM_001206744.2(TPO):c.2240G>A (p.Ser747Asn)	TPO (S574N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 331369	NM_001206744.2(TPO):c.2306G>A (p.Arg769Gln)	TPO (R769Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2541927	NM_001206744.2(TPO):c.2324A>G (p.Gln775Arg)	TPO (Q602R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328302	NM_001206744.2(TPO):c.2369A>C (p.Gln790Pro)	TPO (Q617P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328297	NM_001206744.2(TPO):c.2402C>T (p.Ala801Val)	TPO (A744V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181555	NM_001206744.2(TPO):c.2411C>T (p.Ala804Val)	TPO (A804V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621327	NM_001206744.2(TPO):c.2459G>A (p.Gly820Asp)	TPO (G763D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328301	NM_001206744.2(TPO):c.2534C>T (p.Pro845Leu)	TPO (P801L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324558	NM_001206744.2(TPO):c.2547G>T (p.Trp849Cys)	TPO (W849C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2233671	NM_001206744.2(TPO):c.2597C>T (p.Thr866Ile)	TPO (T693I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345722	NM_001206744.2(TPO):c.2619G>T (p.Trp873Cys)	LOC126806104, TPO (W829C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602448	NM_001206744.2(TPO):c.2624G>A (p.Arg875His)	LOC126806104, TPO (R702H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181557	NM_001206744.2(TPO):c.2675C>A (p.Pro892His)	LOC126806104, TPO (P892H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41