Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_004006.3(DMD):c.238dup (p.Ala80fs) | DMD | Pathogenic | X | 32862925 | 32862926 | G | GC | criteria provided, single submitter | ClinGen:CA16616537 |
Deletion | NC_000023.11:g.(?_31119228)_(33211556_?)del | DMD | Pathogenic | X | 31137345 | 33229673 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_31260955)_(31261016_?)del | DMD | Pathogenic | X | 31279072 | 31279133 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_31478106)_(31932227_?)del | DMD | Pathogenic | X | 31496223 | 31950344 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_31627673)_(31658144_?)del | DMD | Likely pathogenic | X | 31645790 | 31676261 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_31729631)_(31729748_?)del | DMD | Pathogenic | X | 31747748 | 31747865 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_32287529)_(32310276_?)del | DMD | Pathogenic | X | 32305646 | 32328393 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_32644132)_(32849820_?)del | DMD | Pathogenic | X | 32662249 | 32867937 | na | na | criteria provided, single submitter | - |
Duplication | NC_000023.10:g.(?_32827610)_(33229673_?)dup | DMD | Likely pathogenic | X | 32827610 | 33229673 | na | na | criteria provided, single submitter | - |
Duplication | NC_000023.10:g.(?_32834585)_(32862977_?)dup | DMD | Likely pathogenic | X | 32834585 | 32862977 | na | na | criteria provided, single submitter | - |