"Ambry Genetics"[submitter] AND "THUMPD1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326029	NM_017736.5(THUMPD1):c.1051G>T (p.Asp351Tyr)	ACSM3, THUMPD1 (D351Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366631	NM_017736.5(THUMPD1):c.1034C>G (p.Ser345Cys)	ACSM3, THUMPD1 (S345C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487250	NM_017736.5(THUMPD1):c.964A>G (p.Thr322Ala)	ACSM3, THUMPD1 (T322A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177257	NM_017736.5(THUMPD1):c.875C>G (p.Ala292Gly)	ACSM3, THUMPD1 (A292G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3326030	NM_017736.5(THUMPD1):c.844G>A (p.Gly282Arg)	ACSM3, THUMPD1 (G282R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390203	NM_017736.5(THUMPD1):c.743G>T (p.Cys248Phe)	ACSM3, THUMPD1 (C248F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460335	NM_017736.5(THUMPD1):c.736G>T (p.Ala246Ser)	ACSM3, THUMPD1 (A246S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333096	NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)	ACSM3, THUMPD1 (Q236*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech delay and variable ocular anomalies +2 more	GConflicting classifications of pathogenicity
Select item 2403105	NM_017736.5(THUMPD1):c.698C>A (p.Thr233Asn)	ACSM3, THUMPD1 (T233N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177255	NM_017736.5(THUMPD1):c.617G>A (p.Ser206Asn)	ACSM3, THUMPD1 (S206N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326032	NM_017736.5(THUMPD1):c.602A>C (p.Lys201Thr)	ACSM3, THUMPD1 (K201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293418	NM_017736.5(THUMPD1):c.511G>C (p.Ala171Pro)	ACSM3, THUMPD1 (A171P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544837	NM_017736.5(THUMPD1):c.485T>C (p.Met162Thr)	ACSM3, THUMPD1 (M162T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177254	NM_017736.5(THUMPD1):c.443T>C (p.Met148Thr)	ACSM3, THUMPD1 (M148T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326033	NM_017736.5(THUMPD1):c.379G>A (p.Val127Ile)	ACSM3, THUMPD1 (V127I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358846	NM_017736.5(THUMPD1):c.253C>T (p.Pro85Ser)	ACSM3, THUMPD1 (P85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177253	NM_017736.5(THUMPD1):c.238G>T (p.Asp80Tyr)	ACSM3, THUMPD1 (D80Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543774	NM_017736.5(THUMPD1):c.215T>C (p.Met72Thr)	ACSM3, THUMPD1 (M72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220979	NM_017736.5(THUMPD1):c.197A>G (p.Asn66Ser)	ACSM3, THUMPD1 (N66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539343	NM_017736.5(THUMPD1):c.176A>G (p.Glu59Gly)	ACSM3, LOC130058602 +1 more (E59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308423	NM_017736.5(THUMPD1):c.134G>C (p.Gly45Ala)	ACSM3, LOC130058602 +1 more (G45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509899	NM_017736.5(THUMPD1):c.98C>T (p.Ala33Val)	ACSM3, LOC130058603 +1 more (A33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326031	NM_017736.5(THUMPD1):c.97G>A (p.Ala33Thr)	ACSM3, LOC130058603 +1 more (A33T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621627	NM_017736.5(THUMPD1):c.74C>T (p.Ala25Val)	ACSM3, LOC130058603 +1 more (A25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177256	NM_017736.5(THUMPD1):c.73G>A (p.Ala25Thr)	ACSM3, LOC130058603 +1 more (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25