"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ACSF3"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990411	NM_001243279.3(ACSF3):c.-8T>A	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 397622	NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)	ACSF3 (R11C)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 990413	NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)	ACSF3 (A15T)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 990414	NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)	ACSF3 (R39H)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +2 more	GUncertain significance
Select item 855742	NM_001243279.3(ACSF3):c.246del (p.Cys83fs)	ACSF3 (C83fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 990426	NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)	ACSF3 (G119D)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	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 1101132	NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1453993	NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)	ACSF3 (K195*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1307160	NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln)	ACSF3 (K210Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 726783	NM_001243279.3(ACSF3):c.667-9C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 991077	NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)	ACSF3 (V241M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
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 959078	NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)	ACSF3 (W276* +1 more)	Single nucleotide variant (nonsense +1 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 991082	NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)	ACSF3 (R318H +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 991083	NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)	ACSF3, LOC125177393 (P338L +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1307215	NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu)	LOC125177393, ACSF3 (M362L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1069517	NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)	ACSF3 (K179* +1 more)	Duplication (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 569646	NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)	ACSF3 (R469* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 419126	NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)	ACSF3	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 31135	NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)	ACSF3 (R523* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
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 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 992106	NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)	ACSF3 (R293P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 992107	NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val)	ACSF3 (A303V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26