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.1406G>A (p.Arg469Gln) | ACADVL | Likely pathogenic | 17 | 7127360 | 7127360 | G | A | reviewed by expert panel | ClinGen:CA220197,UniProtKB:P49748#VAR_000361 |
Duplication | NM_000018.4(ACADVL):c.1389dup (p.Thr464fs) | ACADVL | Likely pathogenic | 17 | 7127339 | 7127340 | A | AG | reviewed by expert panel | ClinGen:CA220196 |
single nucleotide variant | NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) | ACADVL | Pathogenic | 17 | 7127330 | 7127330 | G | A | reviewed by expert panel | ClinGen:CA312275 |
Duplication | NM_000018.3(ACADVL):c.1375dup | ACADVL | Likely pathogenic | 17 | 7127327 | 7127328 | T | TC | reviewed by expert panel | ClinGen:CA312288 |
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 |
Duplication | NM_000018.4(ACADVL):c.1368dup (p.Ile457fs) | ACADVL | Likely pathogenic | 17 | 7127321 | 7127322 | G | GC | reviewed by expert panel | - |
single nucleotide variant | NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) | ACADVL | Likely pathogenic | 17 | 7127312 | 7127312 | G | A | reviewed by expert panel | ClinGen:CA8338089 |
single nucleotide variant | NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) | ACADVL | Pathogenic | 17 | 7127311 | 7127311 | C | T | reviewed by expert panel | ClinGen:CA274997 |
Duplication | NM_000018.4(ACADVL):c.1355dup (p.Arg453fs) | ACADVL | Likely pathogenic | 17 | 7127308 | 7127309 | C | CT | criteria provided, single submitter | ClinGen:CA16041874 |
single nucleotide variant | NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) | ACADVL | Likely pathogenic | 17 | 7127303 | 7127303 | G | A | reviewed by expert panel | ClinGen:CA251910,UniProtKB:P49748#VAR_000355,OMIM:609575.0010,OMIM:609575.0014 |