The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000018.4(ACADVL):c.932del (p.Phe311fs)
CA8337906
554546 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: c0016a2e-1713-4d16-915e-ab1704ff5383
HGVS expressions
NM_000018.4:c.932del
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
NC_000017.11:g.7222720del
CM000679.2:g.7222720del
NC_000017.10:g.7126039del
CM000679.1:g.7126039del
NC_000017.9:g.7066763del
NG_007975.1:g.7887del
NG_008391.2:g.2332del
ENST00000356839.10:c.932del
ENST00000322910.9:c.*887del
ENST00000350303.9:c.866del
ENST00000356839.9:c.932del
ENST00000543245.6:c.1001del
ENST00000578824.5:n.81del
ENST00000581378.5:c.650del
ENST00000582379.1:n.316del
NM_000018.3:c.932del
NM_001033859.2:c.866del
NM_001270447.1:c.1001del
NM_001270448.1:c.704del
NM_001033859.3:c.866del
NM_001270447.2:c.1001del
NM_001270448.2:c.704del
Evidence submitted by expert panel
Approved on: 2023-09-26
Published on: 2023-09-26
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