Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000551.4(VHL):c.339_340+5del | VHL | Pathogenic | 3 | 10183868 | 10183874 | CCGAGGTA | C | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_10141838)_(10149975_?)del | VHL | Pathogenic | 3 | 10183522 | 10191659 | na | na | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_10146504)_(10149975_?)del | VHL | Pathogenic | 3 | 10188188 | 10191659 | na | na | criteria provided, single submitter | - |