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.(?_31366653)_(31382270_?)dup | DMD | Likely pathogenic | X | 31366653 | 31382270 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31773960)_(31836819_?)del | DMD | Pathogenic | X | 31792077 | 31854936 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32216896)_(32472329_?)del | DMD | Pathogenic | X | 32235013 | 32490446 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32216896)_(32849840_?)del | DMD | Pathogenic | X | 32235013 | 32867957 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32287509)_(32362978_?)del | DMD | Pathogenic | X | 32305626 | 32381095 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32362768)_(32699313_?)del | DMD | Pathogenic | X | 32380885 | 32717430 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32697850)_(32699313_?)del | DMD | Pathogenic | X | 32715967 | 32717430 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32827590)_(32841967_?)dup | DMD | Pathogenic | X | 32827590 | 32841967 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32827590)_(32867957_?)dup | DMD | Pathogenic | X | 32827590 | 32867957 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32809473)_(33020220_?)del | DMD | Pathogenic | X | 32827590 | 33038337 | na | na | criteria provided, single submitter | - |
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