single nucleotide variant | NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) | SHOC2 | Pathogenic | 10 | 112724120 | 112724120 | A | G | reviewed by expert panel | ClinGen:CA118524,UniProtKB:Q9UQ13#VAR_060199,OMIM:602775.0001 |
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 |
single nucleotide variant | NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) | KRAS | Pathogenic/Likely pathogenic | 12 | 25398285 | 25398285 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA122531,UniProtKB:P01116#VAR_016027,OMIM:190070.0002 |
single nucleotide variant | NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) | KRAS | Pathogenic | 12 | 25398284 | 25398284 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA122538,UniProtKB:P01116#VAR_016026,OMIM:190070.0005,OMIM:190070.0025 |
single nucleotide variant | NM_004985.5(KRAS):c.35G>T (p.Gly12Val) | KRAS | Pathogenic | 12 | 25398284 | 25398284 | C | A | criteria provided, multiple submitters, no conflicts | COSMIC:520,ClinGen:CA122540,UniProtKB:P01116#VAR_006840,OMIM:190070.0006,OMIM:190070.0026 |
single nucleotide variant | NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) | KRAS | Pathogenic | 12 | 25398285 | 25398285 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA135565,UniProtKB:P01116#VAR_016028,OMIM:190070.0007 |
single nucleotide variant | NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) | KRAS | Pathogenic | 12 | 25380280 | 25380280 | C | G | reviewed by expert panel | ClinGen:CA273416,UniProtKB:P01116#VAR_026112,OMIM:190070.0009 |
single nucleotide variant | NM_004985.5(KRAS):c.458A>T (p.Asp153Val) | KRAS | Pathogenic | 12 | 25362838 | 25362838 | T | A | reviewed by expert panel | ClinGen:CA256478,OMIM:190070.0010,OMIM:190070.0015 |
single nucleotide variant | NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) | KRAS | Pathogenic | 12 | 25380285 | 25380285 | G | A | reviewed by expert panel | ClinGen:CA256480,UniProtKB:P01116#VAR_026111,OMIM:190070.0011 |
single nucleotide variant | NM_004985.5(KRAS):c.40G>A (p.Val14Ile) | KRAS | Pathogenic | 12 | 25398279 | 25398279 | C | T | reviewed by expert panel | ClinGen:CA156358,UniProtKB:P01116#VAR_026109,OMIM:190070.0012 |