single nucleotide variant | NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) | SOS1 | Pathogenic | 2 | 39249927 | 39249927 | T | G | reviewed by expert panel | ClinGen:CA234977,UniProtKB:Q07889#VAR_030432 |
single nucleotide variant | NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr) | SOS1 | Pathogenic | 2 | 39250247 | 39250247 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273441,UniProtKB:Q07889#VAR_030431 |
single nucleotide variant | NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) | SOS1 | Pathogenic/Likely pathogenic | 2 | 39250269 | 39250269 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA261717,UniProtKB:Q07889#VAR_030430 |
Indel | NM_005633.4(SOS1):c.1300_1301delinsAA (p.Gly434Lys) | SOS1 | Pathogenic | 2 | 39250268 | 39250269 | CC | TT | criteria provided, single submitter | ClinGen:CA297278 |
single nucleotide variant | NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) | SOS1 | Pathogenic | 2 | 39250269 | 39250269 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) | SOS1 | Pathogenic | 2 | 39250272 | 39250272 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA235348,UniProtKB:Q07889#VAR_030429 |
single nucleotide variant | NM_005633.4(SOS1):c.806T>C (p.Met269Thr) | SOS1 | Pathogenic | 2 | 39278343 | 39278343 | A | G | reviewed by expert panel | ClinGen:CA235344,UniProtKB:Q07889#VAR_064504 |
single nucleotide variant | NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) | SOS1 | Pathogenic | 2 | 39283845 | 39283845 | T | C | reviewed by expert panel | ClinGen:CA235342,UniProtKB:Q07889#VAR_066034 |
single nucleotide variant | NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) | SOS1 | Pathogenic | 2 | 39285837 | 39285837 | C | T | reviewed by expert panel | ClinGen:CA261739,UniProtKB:Q07889#VAR_030423 |
single nucleotide variant | NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) | SOS1 | Pathogenic | 2 | 39285906 | 39285906 | A | G | criteria provided, single submitter | ClinGen:CA346373979 |