single nucleotide variant | NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) | RAF1 | Likely pathogenic | 3 | 12645700 | 12645700 | A | G | reviewed by expert panel | ClinGen:CA184835 |
single nucleotide variant | NM_002880.4(RAF1):c.769T>A (p.Ser257Thr) | RAF1 | Likely pathogenic | 3 | 12645700 | 12645700 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) | RAF1 | Pathogenic | 3 | 12645701 | 12645701 | C | A | reviewed by expert panel | ClinGen:CA261625,UniProtKB:P04049#VAR_037807 |
single nucleotide variant | NM_002880.4(RAF1):c.768G>C (p.Arg256Ser) | RAF1 | Pathogenic/Likely pathogenic | 3 | 12645701 | 12645701 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA261623,UniProtKB:P04049#VAR_037807 |
single nucleotide variant | NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) | RAF1 | Pathogenic/Likely pathogenic | 3 | 12645703 | 12645703 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA261620 |
single nucleotide variant | NM_002880.4(RAF1):c.483T>G (p.Asn161Lys) | RAF1 | Likely pathogenic | 3 | 12650363 | 12650363 | A | C | criteria provided, single submitter | ClinGen:CA16040603 |
single nucleotide variant | NM_002880.4(RAF1):c.433A>C (p.Thr145Pro) | RAF1 | Likely pathogenic | 3 | 12650413 | 12650413 | T | G | criteria provided, single submitter | ClinGen:CA16042457 |
single nucleotide variant | NM_002880.4(RAF1):c.418A>C (p.Asn140His) | RAF1 | Likely pathogenic | 3 | 12650737 | 12650737 | T | G | criteria provided, single submitter | ClinGen:CA297148 |
single nucleotide variant | NM_002880.4(RAF1):c.285C>G (p.Cys95Trp) | RAF1 | Likely pathogenic | 3 | 12653484 | 12653484 | G | C | criteria provided, single submitter | ClinGen:CA273221 |
single nucleotide variant | NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) | RRAS2 | Pathogenic | 11 | 14316390 | 14316390 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA120437,OMIM:600098.0001 |