Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) | ACADVL | Likely pathogenic | 17 | 7128285 | 7128285 | C | T | reviewed by expert panel | ClinGen:CA251903,UniProtKB:P49748#VAR_000365,OMIM:609575.0003 |
single nucleotide variant | NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) | ACADVL | Likely pathogenic | 17 | 7128291 | 7128291 | C | T | reviewed by expert panel | ClinGen:CA16608642 |
Duplication | NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) | ACADVL | Likely pathogenic | 17 | 7128355 | 7128356 | G | GC | criteria provided, multiple submitters, no conflicts | - |