single nucleotide variant | NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) | ALDOB | Pathogenic/Likely pathogenic | 9 | 104187236 | 104187236 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041283 |
single nucleotide variant | NM_000035.4(ALDOB):c.324+1G>A | ALDOB | Pathogenic | 9 | 104192036 | 104192036 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA347812 |
Deletion | NM_000035.4(ALDOB):c.865del (p.Leu289fs) | ALDOB | Pathogenic | 9 | 104187259 | 104187259 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA347831 |
Deletion | NM_000035.4(ALDOB):c.113-1_115del | ALDOB | Pathogenic/Likely pathogenic | 9 | 104192246 | 104192249 | GTACC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA199107 |
single nucleotide variant | NM_000035.4(ALDOB):c.324G>A (p.Lys108=) | ALDOB | Pathogenic/Likely pathogenic | 9 | 104192037 | 104192037 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199056 |
single nucleotide variant | NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) | ALDOB | Pathogenic/Likely pathogenic | 9 | 104188849 | 104188849 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199058 |
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 |
single nucleotide variant | NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) | ALDOB | Pathogenic/Likely pathogenic | 9 | 104184173 | 104184173 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA199050,UniProtKB:P05062#VAR_000558 |
single nucleotide variant | NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) | ALDOB | Pathogenic/Likely pathogenic | 9 | 104192183 | 104192183 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA339813,OMIM:612724.0009 |
single nucleotide variant | NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) | ALDOB | Pathogenic/Likely pathogenic | 9 | 104193160 | 104193160 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA114310,OMIM:612724.0008 |