Knowledge base for genomic medicine in Japanese
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特発性拡張型心筋症
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.(?_32287519)_(32310286_?)del | DMD | Pathogenic | X | 32305636 | 32328403 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32305636)_(32366860_?)dup | DMD | Likely pathogenic | X | 32305636 | 32366860 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32472144)_(32651077_?)del | DMD | Pathogenic | X | 32490261 | 32669194 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32472154)_(32651077_?)del | DMD | Pathogenic | X | 32490271 | 32669194 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32484899)_(32849840_?)del | DMD | Pathogenic | X | 32503016 | 32867957 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32509374)_(32509655_?)dup | DMD | Pathogenic | X | 32509374 | 32509655 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31332523)_(31525580_?)dup | DMD | Pathogenic | X | 31332523 | 31525580 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32536115)_(32632580_?)dup | DMD | Likely pathogenic | X | 32536115 | 32632580 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32827600)_(32834767_?)dup | DMD | Pathogenic | X | 32827600 | 32834767 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31613687)_(31645989_?)dup | DMD | Likely pathogenic | X | 31613687 | 31645989 | na | na | criteria provided, single submitter | - |
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