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.104del (p.Pro35fs)
CA624861220
541718 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: d4bf1068-23a1-499a-842b-683684db2c60
HGVS expressions
NM_000018.4:c.104del
NM_000018.4(ACADVL):c.104del (p.Pro35fs)
NC_000017.11:g.7220163del
CM000679.2:g.7220163del
NC_000017.10:g.7123482del
CM000679.1:g.7123482del
NC_000017.9:g.7064206del
NG_007975.1:g.5330del
NG_008391.2:g.4890del
ENST00000356839.10:c.104del
ENST00000322910.9:c.*59del
ENST00000350303.9:c.104del
ENST00000356839.9:c.104del
ENST00000543245.6:c.173del
ENST00000577191.5:n.181del
ENST00000577857.5:n.194del
ENST00000578269.5:n.211del
ENST00000578421.1:n.238del
ENST00000579286.5:n.211del
ENST00000579886.2:c.104del
ENST00000580263.5:n.194del
ENST00000581562.5:n.151del
ENST00000582056.5:n.194del
ENST00000582356.5:n.229del
ENST00000583312.5:c.104del
ENST00000584103.5:c.104del
NM_000018.3:c.104del
NM_001033859.2:c.104del
NM_001270447.1:c.173del
NM_001270448.1:c.-125del
NM_001033859.3:c.104del
NM_001270447.2:c.173del
NM_001270448.2:c.-125del
Evidence submitted by expert panel
Approved on: 2022-04-06
Published on: 2022-07-12
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