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.(?_31819965)_(31836829_?)del | DMD | Pathogenic | X | 31838082 | 31854946 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31819965)_(31929755_?)del | DMD | Pathogenic | X | 31838082 | 31947872 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31819965)_(32217073_?)del | DMD | Pathogenic | X | 31838082 | 32235190 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31836708)_(31879410_?)del | DMD | Pathogenic | X | 31854825 | 31897527 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31875178)_(31932237_?)del | DMD | Pathogenic | X | 31893295 | 31950354 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31929586)_(31932237_?)del | DMD | Pathogenic | X | 31947703 | 31950354 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32404417)_(32717420_?)dup | DMD | Pathogenic | X | 32404417 | 32717420 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32438221)_(32518151_?)del | DMD | Pathogenic | X | 32456338 | 32536268 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32438231)_(32651077_?)del | DMD | Pathogenic | X | 32456348 | 32669194 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_004006.3(DMD):c.187-1G>T | DMD | Pathogenic | X | 32862978 | 32862978 | C | A | criteria provided, single submitter | - |
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