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.(?_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 | - |
| Duplication | NC_000023.10:g.(?_32862900)_(32867937_?)dup | DMD | Pathogenic | X | 32862900 | 32867937 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31729631)_(31820083_?)del | DMD | Pathogenic | X | 31747748 | 31838200 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31968339)_(31968514_?)del | DMD | Pathogenic | X | 31986456 | 31986631 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32438241)_(32491518_?)del | DMD | Pathogenic | X | 32456358 | 32509635 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32481556)_(32509635_?)dup | DMD | Pathogenic | X | 32481556 | 32509635 | na | na | criteria provided, single submitter | - |
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