single nucleotide variant | NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe) | NOTCH3 | Pathogenic | 19 | 15302896 | 15302896 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg) | NOTCH3 | Pathogenic | 19 | 15302897 | 15302897 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15302902 | 15302902 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.548G>A (p.Cys183Tyr) | NOTCH3 | Pathogenic | 19 | 15302902 | 15302902 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr) | NOTCH3 | Pathogenic | 19 | 15303019 | 15303019 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe) | NOTCH3 | Likely pathogenic | 19 | 15303067 | 15303067 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) | NOTCH3 | Likely pathogenic | 19 | 15303099 | 15303099 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.259T>C (p.Cys87Arg) | NOTCH3 | Pathogenic | 19 | 15303269 | 15303269 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr) | NOTCH3 | Pathogenic | 19 | 15303301 | 15303301 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser) | NOTCH3 | Pathogenic | 19 | 15303302 | 15303302 | A | T | criteria provided, single submitter | - |