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_000023.10:g.(?_31838072)_(31986651_?)del | DMD | Pathogenic | X | 31838072 | 31986651 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.10:g.(?_31854815)_(31986651_?)del | DMD | Pathogenic | X | 31854815 | 31986651 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32235013)_(32490446_?)dup | DMD | Pathogenic | X | 32235013 | 32490446 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32216896)_(32651077_?)del | DMD | Pathogenic | X | 32235013 | 32669194 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32287509)_(32287721_?)del | DMD | Pathogenic | X | 32305626 | 32305838 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32305626)_(32509655_?)dup | DMD | Pathogenic | X | 32305626 | 32509655 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32386290)_(32849840_?)del | DMD | Pathogenic | X | 32404407 | 32867957 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32411732)_(32614473_?)del | DMD | Pathogenic | X | 32429849 | 32632590 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32429849)_(33038337_?)dup | DMD | Pathogenic | X | 32429849 | 33038337 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32809473)_(32823850_?)del | DMD | Pathogenic | X | 32827590 | 32841967 | na | na | criteria provided, single submitter | - |
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