Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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.1235A>G (p.Gln412Arg) | NOTCH3 | Likely pathogenic | 19 | 15299943 | 15299943 | T | C | criteria provided, single submitter | ClinGen:CA404528303 |
Duplication | NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs) | NOTCH3 | Likely pathogenic | 19 | 15272512 | 15272513 | A | AG | criteria provided, single submitter | ClinGen:CA16620806 |