Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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.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 |
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 |