single nucleotide variant | NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) | NOTCH3 | Pathogenic | 19 | 15303260 | 15303260 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA404534999 |
single nucleotide variant | NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15303283 | 15303283 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA305778444 |
single nucleotide variant | NM_000435.3(NOTCH3):c.226T>C (p.Cys76Arg) | NOTCH3 | Pathogenic | 19 | 15303302 | 15303302 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA404535145 |
single nucleotide variant | NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15303328 | 15303328 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA404535226 |
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 |
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.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.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.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.145T>C (p.Cys49Arg) | NOTCH3 | Pathogenic | 19 | 15308363 | 15308363 | A | G | criteria provided, single submitter | ClinGen:CA404483412 |