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.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.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.128G>A (p.Cys43Tyr) | NOTCH3 | Pathogenic | 19 | 15308380 | 15308380 | C | T | criteria provided, single submitter | ClinGen:CA404483448 |