Showing 1 to 3 of 3 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
Likely Pathogenic
very long chain acyl-CoA dehydrogenase deficiency2022-12-15
1.2
-ACADVL
View NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
Likely Pathogenic
very long chain acyl-CoA dehydrogenase deficiency2022-12-15
1.1
-ACADVL
View NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
Likely Pathogenic
very long chain acyl-CoA dehydrogenase deficiency2022-12-15
1.0
-ACADVL
Showing 1 to 3 of 3 rows