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.1605+2T>C | ACADVL | Likely pathogenic | 17 | 7127714 | 7127714 | T | C | 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.205-2A>G | ACADVL | Likely pathogenic | 17 | 7123921 | 7123921 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000018.4(ACADVL):c.1751+2T>C | ACADVL | Likely pathogenic | 17 | 7128035 | 7128035 | T | C | criteria provided, single submitter | - |
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.1332G>A (p.Lys444=) | ACADVL | Likely pathogenic | 17 | 7127194 | 7127194 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter) | ACADVL | Likely pathogenic | 17 | 7127156 | 7127156 | G | T | reviewed by expert panel | - |
Deletion | NM_000018.4(ACADVL):c.552del (p.Ile184fs) | ACADVL | Pathogenic | 17 | 7124931 | 7124931 | TC | T | reviewed by expert panel | - |
Duplication | NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) | ACADVL | Likely pathogenic | 17 | 7124113 | 7124114 | T | TAAAGAGCTGGTGGAGCC | reviewed by expert panel | - |
single nucleotide variant | NM_000018.4(ACADVL):c.1751+1G>A | ACADVL | Likely pathogenic | 17 | 7128034 | 7128034 | G | A | criteria provided, multiple submitters, no conflicts | - |