single nucleotide variant | NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) | NOTCH3 | Pathogenic | 19 | 15302929 | 15302929 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA404533739 |
single nucleotide variant | NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe) | NOTCH3 | Likely pathogenic | 19 | 15303013 | 15303013 | C | A | criteria provided, single submitter | ClinGen:CA404534071 |
single nucleotide variant | NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) | NOTCH3 | Pathogenic | 19 | 15303013 | 15303013 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA404534075 |
single nucleotide variant | NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15303014 | 15303014 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA404534080 |
single nucleotide variant | NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) | NOTCH3 | Pathogenic | 19 | 15303029 | 15303029 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA404534145 |
single nucleotide variant | NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe) | NOTCH3 | Pathogenic | 19 | 15303100 | 15303100 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA9263904 |
single nucleotide variant | NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr) | NOTCH3 | Pathogenic | 19 | 15303100 | 15303100 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA404534517 |
single nucleotide variant | NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly) | NOTCH3 | Pathogenic | 19 | 15303101 | 15303101 | A | C | criteria provided, single submitter | ClinGen:CA404534520 |
single nucleotide variant | NM_000435.3(NOTCH3):c.349T>C (p.Cys117Arg) | NOTCH3 | Pathogenic | 19 | 15303101 | 15303101 | A | G | criteria provided, single submitter | ClinGen:CA404534521 |
single nucleotide variant | NM_000435.3(NOTCH3):c.316T>C (p.Cys106Arg) | NOTCH3 | Pathogenic | 19 | 15303212 | 15303212 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA404534799 |