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.1411+2T>A | SLC2A10 | Likely pathogenic | 20 | 45355627 | 45355627 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA322146 |
Deletion | NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) | SLC2A10 | Pathogenic | 20 | 45355547 | 45355547 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA321816,OMIM:606145.0003 |
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.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.1288+2T>C | SLC2A10 | Likely pathogenic | 20 | 45354965 | 45354965 | T | C | criteria provided, single submitter | - |
Indel | NM_030777.4(SLC2A10):c.1278_1287delinsCC (p.Phe427fs) | SLC2A10 | Pathogenic | 20 | 45354953 | 45354962 | GTTTGGGCCA | CC | criteria provided, single submitter | ClinGen:CA16620930 |
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 |
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.691C>T (p.Arg231Trp) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45354366 | 45354366 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA319966 |