Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NC_000023.10:g.(?_32472769)_(32536267_?)dup | DMD | Likely pathogenic | X | 32472769 | 32536267 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_32517988)_(32518151_?)del | DMD | Pathogenic | X | 32536105 | 32536268 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_32595737)_(32595896_?)del | DMD | Pathogenic | X | 32613854 | 32614013 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004006.3(DMD):c.9563+2T>A | DMD | Pathogenic | X | 31227613 | 31227613 | A | T | criteria provided, single submitter | - |