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.881_884dup (p.Pro296fs)
CA8337899
371464 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 44973038-39f3-43ad-a2ba-60375c1105bc
Approved on: 2023-02-28
Published on: 2023-02-28
HGVS expressions
NM_000018.4:c.881_884dup
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
NC_000017.11:g.7222669_7222672dup
CM000679.2:g.7222669_7222672dup
NC_000017.10:g.7125988_7125991dup
CM000679.1:g.7125988_7125991dup
NC_000017.9:g.7066712_7066715dup
NG_007975.1:g.7836_7839dup
NG_008391.2:g.2379_2382dup
ENST00000356839.10:c.881_884dup
ENST00000322910.9:c.*836_*839dup
ENST00000350303.9:c.815_818dup
ENST00000356839.9:c.881_884dup
ENST00000543245.6:c.950_953dup
ENST00000578824.5:n.30_33dup
ENST00000581378.5:n.599_602dup
ENST00000582379.1:n.265_268dup
NM_000018.3:c.881_884dup
NM_001033859.2:c.815_818dup
NM_001270447.1:c.950_953dup
NM_001270448.1:c.653_656dup
NM_001033859.3:c.815_818dup
NM_001270447.2:c.950_953dup
NM_001270448.2:c.653_656dup
Evidence submitted by expert panel
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