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.507_527del (p.Met169_Gly175del)
CA312294
203597 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 187501cc-93fb-4525-8ff0-1e7e358dccad
HGVS expressions
NM_000018.4:c.507_527del
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
NC_000017.11:g.7221567_7221587del
CM000679.2:g.7221567_7221587del
NC_000017.10:g.7124886_7124906del
CM000679.1:g.7124886_7124906del
NC_000017.9:g.7065610_7065630del
NG_007975.1:g.6734_6754del
NG_008391.2:g.3473_3493del
ENST00000356839.10:c.507_527del
ENST00000322910.9:c.*462_*482del
ENST00000350303.9:c.441_461del
ENST00000356839.9:c.507_527del
ENST00000543245.6:c.576_596del
ENST00000577191.5:n.584_604del
ENST00000577433.5:n.715_735del
ENST00000577857.5:n.323_343del
ENST00000579286.5:n.688_708del
ENST00000579886.2:c.345_365del
ENST00000580365.1:n.238_258del
ENST00000581378.5:c.225_245del
ENST00000581562.5:n.525-385_525-365del
ENST00000582166.1:n.488_508del
ENST00000583312.5:c.507_527del
ENST00000583760.1:n.289_309del
NM_000018.3:c.507_527del
NM_001033859.2:c.441_461del
NM_001270447.1:c.576_596del
NM_001270448.1:c.279_299del
NM_001033859.3:c.441_461del
NM_001270447.2:c.576_596del
NM_001270448.2:c.279_299del
Evidence submitted by expert panel
Approved on: 2024-02-27
Published on: 2024-02-27
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