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.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.325-1G>A | ALDOB | Likely pathogenic | 9 | 104190806 | 104190806 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000035.4(ALDOB):c.324+2T>A | ALDOB | Pathogenic/Likely pathogenic | 9 | 104192035 | 104192035 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041288 |
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 |
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 |
Deletion | NM_000035.4(ALDOB):c.302del (p.Lys101fs) | ALDOB | Pathogenic | 9 | 104192059 | 104192059 | CT | C | criteria provided, multiple submitters, no conflicts | - |
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.178C>T (p.Arg60Ter) | ALDOB | Pathogenic/Likely pathogenic | 9 | 104192183 | 104192183 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA339813,OMIM:612724.0009 |
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 |