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.3G>A (p.Met1Ile) | ACADVL | Likely pathogenic | 17 | 7123306 | 7123306 | G | A | criteria provided, single submitter | - |
Deletion | NM_000018.4(ACADVL):c.16_32del (p.Met6fs) | ACADVL | Likely pathogenic | 17 | 7123317 | 7123333 | CGGATGGCCGCGAGCTTG | C | criteria provided, single submitter | - |
Deletion | NM_000018.4(ACADVL):c.33del (p.Arg12fs) | ACADVL | Likely pathogenic | 17 | 7123333 | 7123333 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000018.4(ACADVL):c.62+6T>C | ACADVL | Likely pathogenic | 17 | 7123371 | 7123371 | T | C | criteria provided, single submitter | ClinGen:CA645372604 |
single nucleotide variant | NM_000018.4(ACADVL):c.63-2A>C | ACADVL | Likely pathogenic | 17 | 7123439 | 7123439 | A | C | reviewed by expert panel | ClinGen:CA397722016 |
single nucleotide variant | NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) | ACADVL | Pathogenic | 17 | 7123443 | 7123443 | C | A | reviewed by expert panel | ClinGen:CA233425 |
Deletion | NM_000018.4(ACADVL):c.103_112del (p.Pro35fs) | ACADVL | Likely pathogenic | 17 | 7123474 | 7123483 | GGCCCGGCCCT | G | reviewed by expert panel | ClinGen:CA658798683 |
Deletion | NM_000018.4(ACADVL):c.104del (p.Pro35fs) | ACADVL | Pathogenic | 17 | 7123480 | 7123480 | GC | G | reviewed by expert panel | ClinGen:CA624861220 |
single nucleotide variant | NM_000018.4(ACADVL):c.138+1G>A | ACADVL | Likely pathogenic | 17 | 7123517 | 7123517 | G | A | reviewed by expert panel | - |
single nucleotide variant | NM_000018.4(ACADVL):c.138+2T>C | ACADVL | Likely pathogenic | 17 | 7123518 | 7123518 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041857 |