C3280314[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203604	NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)	ACSF3 (R10W)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 1323845	NM_001243279.3(ACSF3):c.136_146del (p.Val46fs)	ACSF3 (V46fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 991072	NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)	ACSF3 (T176N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1322759	NM_001243279.3(ACSF3):c.666+1G>A	ACSF3	Single nucleotide variant (splice donor variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 943596	NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	ACSF3 (G261*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1068495	NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	ACSF3 (Y297* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 31136	NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	ACSF3, LOC125177393 (E359K +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 419949	NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)	ACSF3 (R434P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2439752	NM_001243279.3(ACSF3):c.1367-23_1396del	ACSF3	Microsatellite (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GConflicting classifications of pathogenicity
Select item 2690831	NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)	ACSF3 (V194A +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 379920	NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	ACSF3 (W536* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 992099	NM_001243279.3(ACSF3):c.1613+3A>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2439725	NM_001243279.3(ACSF3):c.1614-2A>G	ACSF3	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 31134	NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	ACSF3 (R558W +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 1323847	NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)	ACSF3 (R293Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity