single nucleotide variant | NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) | ALDOB | Likely pathogenic | 9 | 104187160 | 104187160 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) | ALDOB | Likely pathogenic | 9 | 104187183 | 104187183 | C | T | criteria provided, single submitter | - |
Deletion | NM_000035.4(ALDOB):c.812del (p.Leu271fs) | ALDOB | Likely pathogenic | 9 | 104187312 | 104187312 | CA | C | criteria provided, single submitter | - |
Duplication | NM_000035.4(ALDOB):c.712dup (p.His238fs) | ALDOB | Likely pathogenic | 9 | 104187821 | 104187822 | T | TG | criteria provided, single submitter | - |
Deletion | NM_000035.4(ALDOB):c.287del (p.Asn96fs) | ALDOB | Likely pathogenic | 9 | 104192074 | 104192074 | GT | G | criteria provided, single submitter | - |
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.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 |
single nucleotide variant | NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) | ALDOB | Pathogenic | 9 | 104184181 | 104184181 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA339812,UniProtKB:P05062#VAR_000557,OMIM:612724.0006 |
Deletion | NM_000035.4(ALDOB):c.865del (p.Leu289fs) | ALDOB | Pathogenic | 9 | 104187259 | 104187259 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA347831 |
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 |