Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_002354.3(EPCAM):c.499dup (p.Gln167fs) | EPCAM | Pathogenic | 2 | 47604159 | 47604160 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA122702,OMIM:185535.0004 |