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) | ||||||||||
| single nucleotide variant | NM_004006.3(DMD):c.831+1G>T | DMD | Pathogenic | X | 32717228 | 32717228 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter) | DMD | Pathogenic | X | 32456506 | 32456506 | G | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001267550.2(TTN):c.95009del (p.Arg31670fs) | TTN | Likely pathogenic | 2 | 179411049 | 179411049 | TC | T | criteria provided, single submitter | - |
| Deletion | NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs) | DMD | Pathogenic | X | 32398685 | 32398686 | CTT | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_004006.3(DMD):c.2129del (p.Lys710fs) | DMD | Pathogenic | X | 32563315 | 32563315 | CT | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001079802.2(FKTN):c.911-1G>A | FKTN | Pathogenic/Likely pathogenic | 9 | 108380239 | 108380239 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_004006.3(DMD):c.6580G>T (p.Glu2194Ter) | DMD | Pathogenic | X | 31986490 | 31986490 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_004006.3(DMD):c.3500C>G (p.Ser1167Ter) | DMD | Pathogenic | X | 32472882 | 32472882 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_004006.3(DMD):c.2556G>A (p.Trp852Ter) | DMD | Pathogenic | X | 32509460 | 32509460 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_004006.3(DMD):c.1062G>A (p.Trp354Ter) | DMD | Pathogenic | X | 32663168 | 32663168 | C | T | criteria provided, single submitter | - |
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