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.1316dup (p.Met440fs)
CA312287
203591 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 77636d05-2406-4e04-b425-48a7554e1658
HGVS expressions
NM_000018.4:c.1316dup
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)
NC_000017.11:g.7223859dup
CM000679.2:g.7223859dup
NC_000017.10:g.7127178dup
CM000679.1:g.7127178dup
NC_000017.9:g.7067902dup
NG_007975.1:g.9026dup
NG_008391.2:g.1197dup
NG_033038.1:g.15691dup
ENST00000356839.10:c.1316dup
ENST00000322910.9:c.*1271dup
ENST00000350303.9:c.1250dup
ENST00000356839.9:c.1316dup
ENST00000542255.6:n.174dup
ENST00000543245.6:c.1385dup
ENST00000578711.1:n.355dup
ENST00000579425.5:n.340dup
ENST00000579546.1:n.153dup
ENST00000583074.5:n.35dup
ENST00000583850.5:n.91dup
ENST00000583858.5:n.345dup
ENST00000585203.6:n.523+1dup
NM_000018.3:c.1316dup
NM_001033859.2:c.1250dup
NM_001270447.1:c.1385dup
NM_001270448.1:c.1088dup
NM_001033859.3:c.1250dup
NM_001270447.2:c.1385dup
NM_001270448.2:c.1088dup
Evidence submitted by expert panel
Approved on: 2022-12-15
Published on: 2022-12-15
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