Deletion | NC_000020.11:g.(?_46709717)_(46733854_?)del | SLC2A10 | Pathogenic | 20 | 45338356 | 45362493 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45353918 | 45353918 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA340266,UniProtKB:O95528#VAR_029535,OMIM:606145.0004 |
single nucleotide variant | NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) | SLC2A10 | Likely pathogenic | 20 | 45354070 | 45354070 | G | T | criteria provided, single submitter | ClinGen:CA409266928 |
single nucleotide variant | NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) | SLC2A10 | Likely pathogenic | 20 | 45354092 | 45354092 | T | A | criteria provided, single submitter | ClinGen:CA347716 |
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 |
single nucleotide variant | NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) | SLC2A10 | Pathogenic | 20 | 45354360 | 45354360 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA347762 |
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 |
Deletion | NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) | SLC2A10 | Pathogenic | 20 | 45354403 | 45354406 | CAACT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA347754 |
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 |
Indel | NM_030777.4(SLC2A10):c.1278_1287delinsCC (p.Phe427fs) | SLC2A10 | Pathogenic | 20 | 45354953 | 45354962 | GTTTGGGCCA | CC | criteria provided, single submitter | ClinGen:CA16620930 |