single nucleotide variant | NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) | NOTCH3 | Pathogenic | 19 | 15303315 | 15303315 | C | A | criteria provided, single submitter | ClinGen:CA340883,UniProtKB:Q9UM47#VAR_012872,OMIM:600276.0001 |
single nucleotide variant | NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) | NOTCH3 | Pathogenic | 19 | 15302945 | 15302945 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340884,UniProtKB:Q9UM47#VAR_012880,OMIM:600276.0002 |
single nucleotide variant | NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) | NOTCH3 | Pathogenic | 19 | 15302906 | 15302906 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340885,UniProtKB:Q9UM47#VAR_012883,OMIM:600276.0003 |
single nucleotide variant | NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) | NOTCH3 | Pathogenic | 19 | 15302277 | 15302277 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340889,UniProtKB:Q9UM47#VAR_044289,OMIM:600276.0007 |
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.6247A>T (p.Lys2083Ter) | NOTCH3 | Pathogenic | 19 | 15272192 | 15272192 | T | A | criteria provided, single submitter | ClinGen:CA204353,OMIM:600276.0017 |
single nucleotide variant | NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) | NOTCH3 | Pathogenic | 19 | 15300089 | 15300089 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA347693 |
single nucleotide variant | NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) | NOTCH3 | Pathogenic | 19 | 15271707 | 15271707 | G | T | criteria provided, single submitter | OMIM:600276.0015,ClinGen:CA358565 |
Duplication | NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) | NOTCH3 | Pathogenic | 19 | 15271746 | 15271747 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA358564,OMIM:600276.0014 |
single nucleotide variant | NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) | NOTCH3 | Pathogenic | 19 | 15271776 | 15271776 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA358562,OMIM:600276.0016 |