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 deficiency | 2022-12-15 | 1.2 | - | ACADVL |
View | NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-12-15 | 1.1 | - | ACADVL |
View | NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-12-15 | 1.0 | - | ACADVL |
Showing 1 to 3 of 3 rows