single nucleotide variant | NM_006939.4(SOS2):c.800T>G (p.Met267Arg) | SOS2 | Pathogenic/Likely pathogenic | 14 | 50649239 | 50649239 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_006939.4(SOS2):c.800T>C (p.Met267Thr) | SOS2 | Pathogenic | 14 | 50649239 | 50649239 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16021010 |
single nucleotide variant | NM_006939.4(SOS2):c.800T>A (p.Met267Lys) | SOS2 | Pathogenic | 14 | 50649239 | 50649239 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA204984,UniProtKB:Q07890#VAR_075686,OMIM:601247.0002 |
single nucleotide variant | NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) | SOS2 | Pathogenic | 14 | 50628269 | 50628269 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA358853,UniProtKB:Q07890#VAR_075689,OMIM:601247.0001 |
Indel | NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) | SOS1 | Likely pathogenic | 2 | 39250275 | 39250276 | AA | TC | criteria provided, single submitter | - |
single nucleotide variant | NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) | SOS1 | Likely pathogenic | 2 | 39241979 | 39241979 | A | T | reviewed by expert panel | - |
single nucleotide variant | NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg) | SOS1 | Pathogenic/Likely pathogenic | 2 | 39239450 | 39239450 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA346364396 |
single nucleotide variant | NM_005633.4(SOS1):c.305C>G (p.Pro102Arg) | SOS1 | Likely pathogenic | 2 | 39285854 | 39285854 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA346373860 |
single nucleotide variant | NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) | SOS1 | Likely pathogenic | 2 | 39281778 | 39281778 | T | A | criteria provided, single submitter | ClinGen:CA16602968 |
single nucleotide variant | NM_005633.4(SOS1):c.1859A>G (p.Asp620Gly) | SOS1 | Likely pathogenic | 2 | 39241987 | 39241987 | T | C | criteria provided, single submitter | ClinGen:CA16042483 |