single nucleotide variant | NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr) | NOTCH3 | Pathogenic | 19 | 15308380 | 15308380 | C | T | criteria provided, single submitter | ClinGen:CA404483448 |
single nucleotide variant | NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) | NOTCH3 | Pathogenic | 19 | 15308363 | 15308363 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) | NOTCH3 | Pathogenic | 19 | 15308363 | 15308363 | A | G | criteria provided, single submitter | ClinGen:CA404483412 |
single nucleotide variant | NM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15308362 | 15308362 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA404483407 |
single nucleotide variant | NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe) | NOTCH3 | Pathogenic | 19 | 15308362 | 15308362 | C | A | criteria provided, single submitter | ClinGen:CA174091,UniProtKB:Q9UM47#VAR_044231 |
single nucleotide variant | NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15308348 | 15308348 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA404483379 |
single nucleotide variant | NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg) | NOTCH3 | Pathogenic | 19 | 15308345 | 15308345 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15308344 | 15308344 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA404483372 |
single nucleotide variant | NM_000435.3(NOTCH3):c.193T>G (p.Cys65Gly) | NOTCH3 | Pathogenic | 19 | 15308315 | 15308315 | A | C | criteria provided, single submitter | ClinGen:CA404483316 |
single nucleotide variant | NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15308314 | 15308314 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA404483314 |