Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000002.12:g.(?_47373457)_(47379975_?)del | EPCAM | Pathogenic | 2 | 47600596 | 47607114 | na | na | criteria provided, single submitter | - |
Deletion | NC_000002.12:g.(?_47373457)_(47386619_?)del | EPCAM | Pathogenic | 2 | 47600596 | 47613758 | na | na | criteria provided, single submitter | - |
Deletion | NC_000002.12:g.(?_47377008)_(47410378_?)del | EPCAM | Pathogenic | 2 | 47604147 | 47637517 | na | na | criteria provided, single submitter | - |
Deletion | NC_000002.12:g.(?_47369500)_(47379975_?)del | EPCAM | Pathogenic | 2 | 47596639 | 47607114 | na | na | criteria provided, single submitter | - |
Insertion | NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs) | EPCAM | Pathogenic | 2 | 47601135 | 47601136 | A | AC | criteria provided, single submitter | ClinGen:CA658683183 |
Deletion | NC_000002.12:g.(?_47385160)_(47482955_?)del | EPCAM | Pathogenic | 2 | 47612299 | 47710094 | na | na | criteria provided, single submitter | - |
Deletion | NC_000002.12:g.(?_47369500)_(47369587_?)del | EPCAM | Pathogenic | 2 | 47596639 | 47596726 | na | na | criteria provided, single submitter | - |
Deletion | NC_000002.12:g.(?_47369500)_(47445663_?)del | EPCAM | Pathogenic | 2 | 47596639 | 47672802 | na | na | criteria provided, single submitter | - |
Deletion | NM_002354.2(EPCAM):c.904-?_945+?del | EPCAM | Pathogenic | 2 | 47613711 | 47613752 | na | na | criteria provided, single submitter | - |
Deletion | NC_000002.12:g.(?_47369148)_(47387028_?)del | EPCAM | Pathogenic | 2 | 47596287 | 47614167 | na | na | criteria provided, single submitter | - |