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.1372T>C (p.Phe458Leu) | ACADVL | Likely pathogenic | 17 | 7127326 | 7127326 | T | C | reviewed by expert panel | ClinGen:CA251907,UniProtKB:P49748#VAR_010103,OMIM:609575.0012 |
single nucleotide variant | NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) | ACADVL | Likely pathogenic | 17 | 7126518 | 7126518 | A | C | reviewed by expert panel | ClinGen:CA251906,UniProtKB:P49748#VAR_000352,OMIM:609575.0008 |
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 |