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.277+2T>G | ACADVL | Pathogenic | 17 | 7123997 | 7123997 | T | G | reviewed by expert panel | - |
Deletion | NM_000018.4(ACADVL):c.299_305del (p.Gln100fs) | ACADVL | Likely pathogenic | 17 | 7124106 | 7124112 | CAGTTTCT | C | criteria provided, single submitter | - |
Duplication | NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) | ACADVL | Likely pathogenic | 17 | 7124113 | 7124114 | T | TAAAGAGCTGGTGGAGCC | reviewed by expert panel | - |
Deletion | NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) | ACADVL | Likely pathogenic | 17 | 7124114 | 7124115 | TAA | T | reviewed by expert panel | ClinGen:CA16041859 |
Deletion | NM_000018.4(ACADVL):c.316_325del (p.Val106fs) | ACADVL | Likely pathogenic | 17 | 7124120 | 7124129 | GCTGGTGGAGC | G | reviewed by expert panel | ClinGen:CA16043042 |
single nucleotide variant | NM_000018.4(ACADVL):c.342+1G>C | ACADVL | Pathogenic | 17 | 7124150 | 7124150 | G | C | reviewed by expert panel | ClinGen:CA397722627 |
Deletion | NM_000018.4(ACADVL):c.343del | ACADVL | Pathogenic | 17 | 7124242 | 7124242 | AG | A | reviewed by expert panel | ClinGen:CA220206,OMIM:609575.0004,OMIM:609575.0005 |
single nucleotide variant | NM_000018.4(ACADVL):c.343-1G>A | ACADVL | Pathogenic | 17 | 7124242 | 7124242 | G | A | reviewed by expert panel | - |
single nucleotide variant | NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) | ACADVL | Likely pathogenic | 17 | 7124264 | 7124264 | A | G | reviewed by expert panel | ClinGen:CA16603209 |
single nucleotide variant | NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter) | ACADVL | Likely pathogenic | 17 | 7124298 | 7124298 | G | A | criteria provided, single submitter | - |