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_001270448.2:c.1378-3_1378-2del
CA916084367
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 2bbfb4f8-569e-402e-ba10-8e48ef465ea8
Approved on: 2022-12-14
Published on: 2022-12-14
HGVS expressions
NM_001270448.2:c.1378-3_1378-2del
NC_000017.11:g.7224477_7224478del
CM000679.2:g.7224477_7224478del
NC_000017.10:g.7127796_7127797del
CM000679.1:g.7127796_7127797del
NC_000017.9:g.7068520_7068521del
NG_007975.1:g.9644_9645del
NG_008391.2:g.573_574del
NG_033038.1:g.15067_15068del
ENST00000356839.10:c.1606-3_1606-2del
ENST00000322910.9:c.*1561-3_*1561-2del
ENST00000350303.9:c.1540-3_1540-2del
ENST00000356839.9:c.1606-3_1606-2del
ENST00000542255.6:n.464-3_464-2del
ENST00000543245.6:c.1675-3_1675-2del
ENST00000578319.5:n.184_185del
ENST00000578711.1:n.973_974del
ENST00000578809.5:n.178-3_178-2del
ENST00000579391.1:n.214-7_214-6del
ENST00000579425.5:n.722-3_722-2del
ENST00000579546.1:n.345-7_345-6del
ENST00000579894.5:n.393-3_393-2del
ENST00000582450.1:n.114-3_114-2del
ENST00000583074.5:n.227-3_227-2del
ENST00000583850.5:n.381-7_381-6del
ENST00000583858.5:n.537-3_537-2del
ENST00000585203.6:n.797-3_797-2del
NM_000018.3:c.1606-3_1606-2del
NM_001033859.2:c.1540-3_1540-2del
NM_001270447.1:c.1675-3_1675-2del
NM_001270448.1:c.1378-3_1378-2del
NM_000018.4:c.1606-3_1606-2del
NM_001033859.3:c.1540-3_1540-2del
NM_001270447.2:c.1675-3_1675-2del
Evidence submitted by expert panel
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