Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
特発性拡張型心筋症
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
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.(?_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 | - |
| Duplication | NC_000023.10:g.(?_33032666)_(33038337_?)dup | DMD | Pathogenic | X | 33032666 | 33038337 | na | na | criteria provided, single submitter | - |
| Deletion | NM_004006.3(DMD):c.10238del (p.Ile3413fs) | DMD | Pathogenic | X | 31196073 | 31196073 | GA | G | criteria provided, single submitter | ClinGen:CA658658946 |
| single nucleotide variant | NM_004006.3(DMD):c.10109G>C (p.Arg3370Pro) | DMD | Likely pathogenic | X | 31196900 | 31196900 | C | G | criteria provided, single submitter | ClinGen:CA412652922 |
| Deletion | NM_004006.3(DMD):c.1476del (p.Gln492fs) | DMD | Pathogenic | X | 32632426 | 32632426 | GT | G | criteria provided, single submitter | ClinGen:CA658658967 |
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