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) | ||||||||||
| Deletion | NC_000023.11:g.(?_31679355)_(31774212_?)del | DMD | Pathogenic | X | 31697472 | 31792329 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32827600)_(32867947_?)dup | DMD | Pathogenic | X | 32827600 | 32867947 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32816458)_(32849830_?)del | DMD | Pathogenic | X | 32834575 | 32867947 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31679365)_(31836829_?)del | DMD | Pathogenic | X | 31697482 | 31854946 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32823285)_(32849830_?)del | DMD | Pathogenic | X | 32841402 | 32867947 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31729621)_(31820093_?)del | DMD | Pathogenic | X | 31747738 | 31838210 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31729621)_(31968524_?)del | DMD | Pathogenic | X | 31747738 | 31986641 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_33032666)_(33038327_?)dup | DMD | Pathogenic | X | 33032666 | 33038327 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31773950)_(31965029_?)del | DMD | Pathogenic | X | 31792067 | 31983146 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31838072)_(31893510_?)dup | DMD | Likely pathogenic | X | 31838072 | 31893510 | na | na | criteria provided, single submitter | - |
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