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.277+2T>G
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA397722484
556238 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: b16ab476-ad69-4027-a8a9-0d107b58db50
Approved on: 2022-03-08
Published on: 2022-04-06
HGVS expressions
NM_000018.4:c.277+2T>G
NM_000018.4(ACADVL):c.277+2T>G
NC_000017.11:g.7220678T>G
CM000679.2:g.7220678T>G
NC_000017.10:g.7123997T>G
CM000679.1:g.7123997T>G
NC_000017.9:g.7064721T>G
NG_007975.1:g.5845T>G
NG_008391.2:g.4373A>C
ENST00000356839.10:c.277+2T>G
ENST00000322910.9:c.*232+2T>G
ENST00000350303.9:c.211+2T>G
ENST00000356839.9:c.277+2T>G
ENST00000543245.6:c.346+2T>G
ENST00000577191.5:n.354+2T>G
ENST00000577433.5:n.485+2T>G
ENST00000577857.5:n.229-88T>G
ENST00000578421.1:n.487T>G
ENST00000579286.5:n.458+2T>G
ENST00000579886.2:c.201+152T>G
ENST00000580263.5:n.443T>G
ENST00000581562.5:n.324+2T>G
ENST00000582056.5:n.367+2T>G
ENST00000582166.1:n.165+2T>G
ENST00000582356.5:n.476+2T>G
ENST00000583312.5:c.277+2T>G
ENST00000584103.5:c.277+2T>G
NM_000018.3:c.277+2T>G
NM_001033859.2:c.211+2T>G
NM_001270447.1:c.346+2T>G
NM_001270448.1:c.49+2T>G
NM_001033859.3:c.211+2T>G
NM_001270447.2:c.346+2T>G
NM_001270448.2:c.49+2T>G
More
Evidence submitted by expert panel
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