single nucleotide variant | NM_000035.4(ALDOB):c.625-2A>G | ALDOB | Likely pathogenic | 9 | 104187911 | 104187911 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA199078 |
Deletion | NM_000035.4(ALDOB):c.546del (p.Leu183fs) | ALDOB | Likely pathogenic | 9 | 104188915 | 104188915 | GT | G | criteria provided, single submitter | ClinGen:CA16041284 |
Deletion | NM_000035.4(ALDOB):c.420del (p.Asp141fs) | ALDOB | Likely pathogenic | 9 | 104189884 | 104189884 | CT | C | criteria provided, single submitter | ClinGen:CA16041286 |
single nucleotide variant | NM_000035.4(ALDOB):c.379+1G>A | ALDOB | Likely pathogenic | 9 | 104190750 | 104190750 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041287 |
Deletion | NM_000035.4(ALDOB):c.112+1del | ALDOB | Likely pathogenic | 9 | 104193057 | 104193057 | AC | A | criteria provided, single submitter | ClinGen:CA16041289 |
single nucleotide variant | NM_000035.4(ALDOB):c.800-2A>C | ALDOB | Likely pathogenic | 9 | 104187326 | 104187326 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA5161455 |
single nucleotide variant | NM_000035.4(ALDOB):c.325-1G>A | ALDOB | Likely pathogenic | 9 | 104190806 | 104190806 | C | T | criteria provided, single submitter | - |
Duplication | NM_000035.4(ALDOB):c.940dup (p.Trp314fs) | ALDOB | Likely pathogenic | 9 | 104187183 | 104187184 | C | CA | criteria provided, single submitter | - |
single nucleotide variant | NM_000035.4(ALDOB):c.380-1G>A | ALDOB | Likely pathogenic | 9 | 104189925 | 104189925 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000035.4(ALDOB):c.380-2A>G | ALDOB | Likely pathogenic | 9 | 104189926 | 104189926 | T | C | criteria provided, multiple submitters, no conflicts | - |