"Counsyl"[submitter] AND "LOC130060113"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555394	NM_000018.4(ACADVL):c.62+18G>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 439362	NM_000018.4(ACADVL):c.63-31C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 555135	NM_000018.4(ACADVL):c.63-18A>G	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 550622	NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	ACADVL, LOC130060113 (R37fs +1 more)	Duplication (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 550796	NM_000018.4(ACADVL):c.138+1G>A	ACADVL, LOC130060113	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 449935	NM_000018.4(ACADVL):c.138+2dup	ACADVL, LOC130060113	Duplication (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 370856	NM_000018.4(ACADVL):c.138+2T>C	ACADVL, LOC130060113	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic