Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000018.4(ACADVL):c.343del | ACADVL | Pathogenic | 17 | 7124242 | 7124242 | AG | A | reviewed by expert panel | ClinGen:CA220206,OMIM:609575.0004,OMIM:609575.0005 |
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.1182+1G>A | ACADVL | Pathogenic/Likely pathogenic | 17 | 7126557 | 7126557 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:609575.0002 |