Related gene-specific medical variations for Gene (Select 55623) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
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 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 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 3067876	NM_017736.5(THUMPD1):c.848A>T (p.Asn283Ile)	ACSM3, THUMPD1 (N283I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech delay and variable ocular anomalies	GUncertain significance
Select item 2682550	NM_017736.5(THUMPD1):c.290del (p.Ala97fs)	ACSM3, THUMPD1 (A97fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with speech delay and variable ocular anomalies	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 1333103	NM_017736.5(THUMPD1):c.133G>A (p.Gly45Ser)	ACSM3, LOC130058602 +1 more (G45S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1333102	NM_017736.5(THUMPD1):c.634dup (p.Glu212fs)	ACSM3, THUMPD1 (E212fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 1333101	NM_017736.5(THUMPD1):c.771GTT[1] (p.Leu258del)	ACSM3, THUMPD1 (L258del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1333100	NM_017736.5(THUMPD1):c.490C>T (p.Pro164Ser)	ACSM3, THUMPD1 (P164S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 1333099	NM_017736.5(THUMPD1):c.469C>T (p.Arg157Ter)	ACSM3, THUMPD1 (R157*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 1333098	NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs)	ACSM3, THUMPD1 (E102fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 1333097	NM_017736.5(THUMPD1):c.341T>G (p.Leu114Ter)	ACSM3, THUMPD1 (L114*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
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 1333095	NM_017736.5(THUMPD1):c.495dup (p.Ser166fs)	ACSM3, THUMPD1 (S166fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GPathogenic

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Items: 30