Duplication | NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs) | NOTCH3 | Likely pathogenic | 19 | 15272512 | 15272513 | A | AG | criteria provided, single submitter | ClinGen:CA16620806 |
single nucleotide variant | NM_000435.3(NOTCH3):c.1235A>G (p.Gln412Arg) | NOTCH3 | Likely pathogenic | 19 | 15299943 | 15299943 | T | C | criteria provided, single submitter | ClinGen:CA404528303 |
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.376A>T (p.Ser126Cys) | NOTCH3 | Likely pathogenic | 19 | 15303074 | 15303074 | T | A | criteria provided, single submitter | ClinGen:CA404534368 |
Deletion | NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs) | NOTCH3 | Likely pathogenic | 19 | 15271747 | 15271747 | TG | T | criteria provided, single submitter | ClinGen:CA658799171 |
single nucleotide variant | NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly) | NOTCH3 | Likely pathogenic | 19 | 15299088 | 15299088 | A | C | criteria provided, single submitter | ClinGen:CA404526893 |
single nucleotide variant | NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) | NOTCH3 | Likely pathogenic | 19 | 15302339 | 15302339 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly) | NOTCH3 | Likely pathogenic | 19 | 15291810 | 15291810 | A | C | 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 | - |