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.1611_1627dup (p.Phe543fs)
CA774734051
846935 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: eadf4b34-bfdb-4869-a56a-d1fc3c8254c9
Approved on: 2022-09-20
Published on: 2022-09-20
HGVS expressions
NM_000018.4:c.1611_1627dup
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
NC_000017.11:g.7224485_7224501dup
CM000679.2:g.7224485_7224501dup
NC_000017.10:g.7127804_7127820dup
CM000679.1:g.7127804_7127820dup
NC_000017.9:g.7068528_7068544dup
NG_007975.1:g.9652_9668dup
NG_008391.2:g.555_571dup
NG_033038.1:g.15049_15065dup
ENST00000356839.10:c.1611_1627dup
ENST00000322910.9:c.*1566_*1582dup
ENST00000350303.9:c.1545_1561dup
ENST00000356839.9:c.1611_1627dup
ENST00000542255.6:n.469_485dup
ENST00000543245.6:c.1680_1696dup
ENST00000578319.5:n.192_208dup
ENST00000578711.1:n.981_997dup
ENST00000578809.5:n.183_199dup
ENST00000579391.1:n.215_231dup
ENST00000579425.5:n.727_743dup
ENST00000579546.1:n.346_362dup
ENST00000579894.5:n.398_414dup
ENST00000582450.1:n.119_135dup
ENST00000583074.5:n.232_248dup
ENST00000583850.5:n.382_398dup
ENST00000583858.5:n.542_558dup
ENST00000585203.6:n.802_818dup
NM_000018.3:c.1611_1627dup
NM_001033859.2:c.1545_1561dup
NM_001270447.1:c.1680_1696dup
NM_001270448.1:c.1383_1399dup
NM_001033859.3:c.1545_1561dup
NM_001270447.2:c.1680_1696dup
NM_001270448.2:c.1383_1399dup
Evidence submitted by expert panel
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