single nucleotide variant | NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) | SLC25A13 | Pathogenic | 7 | 95822414 | 95822414 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA342159 |
Deletion | NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) | SLC25A13 | Pathogenic | 7 | 95818684 | 95818687 | TCATA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA253673,OMIM:603859.0001 |
single nucleotide variant | NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter) | SLC25A13 | Pathogenic | 7 | 95818966 | 95818966 | G | A | criteria provided, single submitter | ClinGen:CA10586126 |
single nucleotide variant | NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter) | SLC25A13 | Pathogenic | 7 | 95814302 | 95814302 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042703 |
Deletion | NM_014251.3(SLC25A13):c.1712del (p.Arg571fs) | SLC25A13 | Pathogenic | 7 | 95751189 | 95751189 | AC | A | criteria provided, single submitter | ClinGen:CA658657696 |
Deletion | NM_014251.3(SLC25A13):c.1631del (p.Ile544fs) | SLC25A13 | Pathogenic | 7 | 95751270 | 95751270 | GA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter) | SLC25A13 | Pathogenic | 7 | 95751046 | 95751046 | G | A | criteria provided, single submitter | - |
Deletion | NM_014251.3(SLC25A13):c.1375del (p.Ala459fs) | SLC25A13 | Pathogenic | 7 | 95775945 | 95775945 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) | SLC25A13 | Pathogenic/Likely pathogenic | 7 | 95813688 | 95813688 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA342148 |
single nucleotide variant | NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) | SLC25A13 | Pathogenic/Likely pathogenic | 7 | 95750995 | 95750995 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA342157 |