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 |
Deletion | NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) | NOTCH3 | Pathogenic | 19 | 15271953 | 15271978 | GCAGGCCCAGGCTGAGTACACATCCTC | G | criteria provided, single submitter | ClinGen:CA358561,OMIM:600276.0013 |
single nucleotide variant | NM_000435.3(NOTCH3):c.1364G>T (p.Cys455Phe) | NOTCH3 | Pathogenic | 19 | 15299814 | 15299814 | C | A | criteria provided, single submitter | ClinGen:CA10603630 |
single nucleotide variant | NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter) | NOTCH3 | Pathogenic | 19 | 15271806 | 15271806 | G | C | criteria provided, single submitter | ClinGen:CA16043086 |
single nucleotide variant | NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15297937 | 15297937 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA9263542 |
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.3182G>A (p.Cys1061Tyr) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15291028 | 15291028 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620807 |
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 |