single nucleotide variant | NM_000035.4(ALDOB):c.325-1G>A | ALDOB | Likely pathogenic | 9 | 104190806 | 104190806 | C | T | criteria provided, single submitter | - |
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 |
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 | - |
single nucleotide variant | NM_000035.4(ALDOB):c.380-1G>A | ALDOB | Likely pathogenic | 9 | 104189925 | 104189925 | C | T | criteria provided, single submitter | - |
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.444G>A (p.Trp148Ter) | ALDOB | Pathogenic/Likely pathogenic | 9 | 104189860 | 104189860 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041285 |
single nucleotide variant | NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) | ALDOB | Pathogenic | 9 | 104189856 | 104189856 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA339810,UniProtKB:P05062#VAR_000553,OMIM:612724.0001 |
single nucleotide variant | NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) | ALDOB | Pathogenic | 9 | 104189782 | 104189782 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) | ALDOB | Pathogenic | 9 | 104189780 | 104189780 | G | T | criteria provided, multiple submitters, no conflicts | OMIM:612724.0002,ClinGen:CA339811,UniProtKB:P05062#VAR_000554 |
Deletion | NM_000035.4(ALDOB):c.546del (p.Leu183fs) | ALDOB | Likely pathogenic | 9 | 104188915 | 104188915 | GT | G | criteria provided, single submitter | ClinGen:CA16041284 |