Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_014251.3(SLC25A13):c.70-1G>A | SLC25A13 | Pathogenic/Likely pathogenic | 7 | 95906651 | 95906651 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_014251.3(SLC25A13):c.15G>A (p.Lys5=) | SLC25A13 | Pathogenic | 7 | 95951254 | 95951254 | C | T | criteria provided, single submitter | ClinGen:CA342152 |