Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000001.11:g.(?_241497557)_(241504245_?)del | FH | Pathogenic | 1 | 241660857 | 241667545 | na | na | criteria provided, single submitter | - |