Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000015.10:g.(?_48410970)_(48644789_?)del | FBN1 | Pathogenic | 15 | 48703167 | 48936986 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48410970)_(48537828_?)del | FBN1 | Pathogenic | 15 | 48703167 | 48830025 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48410970)_(48497411_?)del | FBN1 | Pathogenic | 15 | 48703167 | 48789608 | na | na | criteria provided, single submitter | - |