Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000015.10:g.(?_48508562)_(48644789_?)del | FBN1 | Pathogenic | 15 | 48800759 | 48936986 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48612990)_(48644789_?)del | FBN1 | Pathogenic | 15 | 48905187 | 48936986 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48596263)_(48644789_?)del | FBN1 | Pathogenic | 15 | 48888460 | 48936986 | na | na | criteria provided, single submitter | - |