single nucleotide variant | NM_002880.4(RAF1):c.785A>G (p.Asn262Ser) | RAF1 | Likely pathogenic | 3 | 12645684 | 12645684 | T | C | criteria provided, single submitter | - |
Indel | NM_004333.6(BRAF):c.1441_1442delinsAA (p.Ala481Lys) | BRAF | Likely pathogenic | 7 | 140477866 | 140477867 | GC | TT | criteria provided, single submitter | - |
single nucleotide variant | NM_002834.5(PTPN11):c.853T>A (p.Phe285Ile) | PTPN11 | Pathogenic | 12 | 112910844 | 112910844 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro) | LZTR1 | Likely pathogenic | 22 | 21344753 | 21344753 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_033360.4(KRAS):c.189G>C (p.Glu63Asp) | KRAS | Likely pathogenic | 12 | 25380269 | 25380269 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004985.5(KRAS):c.451-5642A>T | KRAS | Likely pathogenic | 12 | 25368487 | 25368487 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_002880.4(RAF1):c.779C>A (p.Thr260Lys) | RAF1 | Pathogenic/Likely pathogenic | 3 | 12645690 | 12645690 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro) | BRAF | Likely pathogenic | 7 | 140494152 | 140494152 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser) | BRAF | Pathogenic | 7 | 140476814 | 140476814 | C | G | criteria provided, single submitter | - |
Indel | NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) | SOS1 | Likely pathogenic | 2 | 39250275 | 39250276 | AA | TC | criteria provided, single submitter | - |