single nucleotide variant | NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15297940 | 15297940 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.1451G>T (p.Cys484Phe) | NOTCH3 | Pathogenic | 19 | 15299087 | 15299087 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.1451G>A (p.Cys484Tyr) | NOTCH3 | Pathogenic | 19 | 15299087 | 15299087 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.1433G>A (p.Cys478Tyr) | NOTCH3 | Pathogenic | 19 | 15299105 | 15299105 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.1337G>T (p.Cys446Phe) | NOTCH3 | Pathogenic | 19 | 15299841 | 15299841 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr) | NOTCH3 | Pathogenic | 19 | 15299895 | 15299895 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.1204T>A (p.Cys402Ser) | NOTCH3 | Pathogenic | 19 | 15299974 | 15299974 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg) | NOTCH3 | Pathogenic | 19 | 15302607 | 15302607 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15302870 | 15302870 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) | NOTCH3 | Pathogenic | 19 | 15302870 | 15302870 | A | T | criteria provided, single submitter | - |