"Ambry Genetics"[submitter] AND "ACSF3"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990413	NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)	ACSF3 (A15T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2536929	NM_001243279.3(ACSF3):c.62T>C (p.Leu21Pro)	ACSF3 (L21P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 598385	NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)	ACSF3 (R27K)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 971632	NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)	ACSF3 (S29T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 990419	NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)	ACSF3 (R49C)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 2205784	NM_001243279.3(ACSF3):c.183C>G (p.Asp61Glu)	ACSF3 (D61E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2224633	NM_001243279.3(ACSF3):c.229C>T (p.Arg77Cys)	ACSF3 (R77C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 970362	NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)	ACSF3 (R84K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2376474	NM_001243279.3(ACSF3):c.268G>A (p.Gly90Ser)	ACSF3 (G90S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 658792	NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)	ACSF3 (D105N)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 2594219	NM_001243279.3(ACSF3):c.379A>G (p.Arg127Gly)	ACSF3 (R127G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1195940	NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)	ACSF3 (A131T)	Single nucleotide variant (intron variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 1050264	NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)	ACSF3 (A131V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2600474	NM_001243279.3(ACSF3):c.434T>G (p.Val145Gly)	ACSF3 (V145G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 991077	NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)	ACSF3 (V241M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2543074	NM_001243279.3(ACSF3):c.724C>T (p.Leu242Phe)	ACSF3 (L242F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2219213	NM_001243279.3(ACSF3):c.739G>A (p.Val247Ile)	ACSF3 (V247I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2462282	NM_001243279.3(ACSF3):c.758C>T (p.Ala253Val)	ACSF3 (A253V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2594198	NM_001243279.3(ACSF3):c.802C>T (p.Pro268Ser)	ACSF3 (P268S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 851516	NM_001243279.3(ACSF3):c.803del (p.Pro268fs)	ACSF3 (P3fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 2619320	NM_001243279.3(ACSF3):c.842G>A (p.Ser281Asn)	ACSF3 (S16N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598456	NM_001243279.3(ACSF3):c.929A>G (p.Gln310Arg)	ACSF3 (Q310R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217853	NM_001243279.3(ACSF3):c.1006C>A (p.Pro336Thr)	ACSF3, LOC125177393 (P71T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518494	NM_001243279.3(ACSF3):c.1064A>G (p.Tyr355Cys)	ACSF3, LOC125177393 (Y90C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539308	NM_001243279.3(ACSF3):c.1067G>T (p.Gly356Val)	ACSF3, LOC125177393 (G356V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 991086	NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)	ACSF3, LOC125177393 (G101R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2493386	NM_001243279.3(ACSF3):c.1100C>G (p.Pro367Arg)	ACSF3, LOC125177393 (P367R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287146	NM_001243279.3(ACSF3):c.1123C>A (p.Pro375Thr)	ACSF3, LOC125177393 (P375T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201195	NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)	ACSF3 (R388C +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 2537684	NM_001243279.3(ACSF3):c.1292C>T (p.Ser431Phe)	ACSF3 (S166F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225216	NM_001243279.3(ACSF3):c.1301G>A (p.Arg434Gln)	ACSF3 (R169Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554398	NM_001243279.3(ACSF3):c.1321G>C (p.Glu441Gln)	ACSF3 (E176Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238829	NM_001243279.3(ACSF3):c.1366+3A>G	ACSF3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 430103	NM_001243279.3(ACSF3):c.1369G>A (p.Asp457Asn)	ACSF3 (D457N +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +2 more	GUncertain significance
Select item 2260062	NM_001243279.3(ACSF3):c.1474C>T (p.His492Tyr)	ACSF3 (H227Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233742	NM_001243279.3(ACSF3):c.1495A>G (p.Ile499Val)	ACSF3 (I499V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228554	NM_001243279.3(ACSF3):c.1499C>G (p.Thr500Arg)	ACSF3 (T500R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 707863	NM_001243279.3(ACSF3):c.1502-4G>A	ACSF3	Single nucleotide variant (intron variant)	ACSF3-related condition +2 more	GLikely benign
Select item 967113	NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)	ACSF3 (R250W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2389017	NM_001243279.3(ACSF3):c.1568G>A (p.Arg523Gln)	ACSF3 (R523Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2536715	NM_001243279.3(ACSF3):c.1625C>T (p.Ala542Val)	ACSF3 (A277V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 992107	NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val)	ACSF3 (A303V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 2276226	NM_001243279.3(ACSF3):c.1721A>C (p.His574Pro)	ACSF3 (H309P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 43