Knowledge base for genomic medicine in Japanese
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筋ジストロフィー
小児・神経疾患
Excelでダウンロード表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Duplication | NC_000023.10:g.(?_31838072)_(31838220_?)dup | DMD | Pathogenic | X | 31838072 | 31838220 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31875168)_(31875393_?)del | DMD | Pathogenic | X | 31893285 | 31893510 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32348386)_(32365219_?)del | DMD | Pathogenic | X | 32366503 | 32383336 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32362768)_(32365219_?)del | DMD | Likely pathogenic | X | 32380885 | 32383336 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31366653)_(31747885_?)dup | DMD | Pathogenic | X | 31366653 | 31747885 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32501735)_(32501862_?)del | DMD | Pathogenic | X | 32519852 | 32519979 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31609621)_(31932247_?)del | DMD | Pathogenic | X | 31627738 | 31950364 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31773940)_(31968534_?)del | DMD | Pathogenic | X | 31792057 | 31986651 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31932060)_(31932247_?)del | DMD | Pathogenic | X | 31950177 | 31950364 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32216896)_(32217083_?)del | DMD | Pathogenic | X | 32235013 | 32235200 | na | na | criteria provided, single submitter | - |
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