Duplication | NC_000023.10:g.(?_32632410)_(33038327_?)dup | DMD | Pathogenic | X | 32632410 | 33038327 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_32849718)_(32849830_?)del | DMD | Pathogenic | X | 32867835 | 32867947 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004006.3(DMD):c.4846-1G>T | DMD | Likely pathogenic | X | 32383317 | 32383317 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004006.3(DMD):c.1705-2A>G | DMD | Pathogenic/Likely pathogenic | X | 32591756 | 32591756 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004006.3(DMD):c.831+1G>C | DMD | Pathogenic | X | 32717228 | 32717228 | C | G | criteria provided, single submitter | - |
Deletion | NM_001943.5(DSG2):c.523+1_523+2del | DSG2 | Likely pathogenic | 18 | 29101207 | 29101208 | CGT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000023.11:g.(?_31609621)_(31774202_?)del | DMD | Pathogenic | X | 31627738 | 31792319 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_31729621)_(31729758_?)del | DMD | Pathogenic | X | 31747738 | 31747875 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_31729621)_(31836829_?)del | DMD | Pathogenic | X | 31747738 | 31854946 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_31819965)_(31820093_?)del | DMD | Pathogenic | X | 31838082 | 31838210 | na | na | criteria provided, single submitter | - |