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

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552975	NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG	ACADVL, DLG4	Insertion (genic upstream transcript variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 21022	NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)	ACADVL, DLG4 (L17F)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 1525860	NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)	ACADVL, LOC130060113 (S22W +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 21023	NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)	ACADVL, LOC130060113 (R23Q +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 932742	NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)	ACADVL (S95F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 541716	NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)	ACADVL (E114K +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1626	NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	ACADVL (E130del +3 more)	Microsatellite (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 166642	NM_000018.4(ACADVL):c.623-8C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 474901	NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)	ACADVL (E218K +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 1429138	NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)	ACADVL (S244G +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 495345	NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	ACADVL (C161fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 21024	NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	ACADVL (T260M +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 811260	NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)	ACADVL (V185A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 21025	NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	ACADVL (V283A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 991127	NM_000018.4(ACADVL):c.858G>A (p.Arg286=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 370981	NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	ACADVL (G289R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 189008	NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	ACADVL (P274fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 418711	NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)	ACADVL (R341T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 932803	NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)	ACADVL (L406V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1622	NM_000018.4(ACADVL):c.1182+1G>A	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 551143	NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)	ACADVL (V400M +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 21016	NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	ACADVL (G441D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 203585	NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	ACADVL (R459Q +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 21017	NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	ACADVL, DVL2 (R469W +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 439356	NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)	ACADVL (G442S +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +2 more	GUncertain significance
Select item 282928	NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)	ACADVL (G523R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 21019	NM_000018.4(ACADVL):c.1679-6G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 287514	NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)	ACADVL (A585V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1623	NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	ACADVL (R613W +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 1613207	NM_000018.4(ACADVL):c.1941G>A (p.Val647=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign

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: 30