Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_000018.4(ACADVL):c.192dup (p.Pro65fs) | ACADVL | Likely pathogenic | 17 | 7123830 | 7123831 | G | GA | reviewed by expert panel | - |
Deletion | NM_000018.4(ACADVL):c.192del (p.Lys64fs) | ACADVL | Likely pathogenic | 17 | 7123831 | 7123831 | GA | G | reviewed by expert panel | - |
single nucleotide variant | NM_000018.4(ACADVL):c.139-1G>T | ACADVL | Likely pathogenic | 17 | 7123782 | 7123782 | G | T | criteria provided, single submitter | - |
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 |
single nucleotide variant | NM_000018.4(ACADVL):c.138+1G>A | ACADVL | Likely pathogenic | 17 | 7123517 | 7123517 | G | A | reviewed by expert panel | - |
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.65C>A (p.Ser22Ter) | ACADVL | Pathogenic | 17 | 7123443 | 7123443 | C | A | reviewed by expert panel | ClinGen:CA233425 |
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.62+6T>C | ACADVL | Likely pathogenic | 17 | 7123371 | 7123371 | T | C | criteria provided, single submitter | ClinGen:CA645372604 |