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.(?_31773950)_(31879410_?)del | DMD | Pathogenic | X | 31792067 | 31897527 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31773950)_(31968524_?)del | DMD | Pathogenic | X | 31792067 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31819965)_(31879410_?)del | DMD | Pathogenic | X | 31838082 | 31897527 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31836708)_(31968524_?)del | DMD | Pathogenic | X | 31854825 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31929586)_(31929755_?)del | DMD | Pathogenic | X | 31947703 | 31947872 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31929586)_(31968524_?)del | DMD | Pathogenic | X | 31947703 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31929590)_(31968520_?)del | DMD | Pathogenic | X | 31947707 | 31986637 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32235013)_(32519979_?)dup | DMD | Likely pathogenic | X | 32235013 | 32519979 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32216906)_(32217073_?)del | DMD | Pathogenic | X | 32235023 | 32235190 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32305636)_(32584008_?)dup | DMD | Likely pathogenic | X | 32305636 | 32584008 | na | na | criteria provided, single submitter | - |
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