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.478-22_478-21del
CA8337734
254701 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: b3cca74a-9b5b-460c-b3e5-6ccdad365926
Approved on: 2022-09-22
Published on: 2022-09-22
HGVS expressions
NM_000018.4:c.478-22_478-21del
NM_000018.4(ACADVL):c.478-22_478-21del
NC_000017.11:g.7221516_7221517del
CM000679.2:g.7221516_7221517del
NC_000017.10:g.7124835_7124836del
CM000679.1:g.7124835_7124836del
NC_000017.9:g.7065559_7065560del
NG_007975.1:g.6683_6684del
NG_008391.2:g.3534_3535del
ENST00000356839.10:c.478-22_478-21del
ENST00000322910.9:c.*433-22_*433-21del
ENST00000350303.9:c.412-22_412-21del
ENST00000356839.9:c.478-22_478-21del
ENST00000543245.6:c.547-22_547-21del
ENST00000577191.5:n.555-22_555-21del
ENST00000577433.5:n.686-22_686-21del
ENST00000577857.5:n.294-22_294-21del
ENST00000579286.5:n.659-22_659-21del
ENST00000579886.2:c.316-22_316-21del
ENST00000580365.1:n.209-22_209-21del
ENST00000581378.5:n.177-3_177-2del
ENST00000581562.5:n.525-436_525-435del
ENST00000582166.1:n.459-22_459-21del
ENST00000583312.5:c.478-22_478-21del
ENST00000583760.1:n.238_239del
NM_000018.3:c.478-22_478-21del
NM_001033859.2:c.412-22_412-21del
NM_001270447.1:c.547-22_547-21del
NM_001270448.1:c.250-22_250-21del
NM_001033859.3:c.412-22_412-21del
NM_001270447.2:c.547-22_547-21del
NM_001270448.2:c.250-22_250-21del
Evidence submitted by expert panel
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