single nucleotide variant | NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45354951 | 45354951 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA324232,UniProtKB:O95528#VAR_042422,OMIM:606145.0005 |
single nucleotide variant | NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45354366 | 45354366 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA319966 |
single nucleotide variant | NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45355523 | 45355523 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA347770,UniProtKB:O95528#VAR_042423 |
single nucleotide variant | NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45355544 | 45355544 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA347799 |
single nucleotide variant | NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45354323 | 45354323 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA315755913 |