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。
筋ジストロフィー
小児・神経疾患
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) | ||||||||||
| Duplication | NM_000109.4(DMD):c.10530-1dup | DMD | Pathogenic | X | 31165634 | 31165635 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658799646 |
| single nucleotide variant | NM_004006.3(DMD):c.9691C>T (p.Gln3231Ter) | DMD | Pathogenic | X | 31222194 | 31222194 | G | A | criteria provided, single submitter | ClinGen:CA412648707 |
| single nucleotide variant | NM_004006.3(DMD):c.8077C>T (p.Gln2693Ter) | DMD | Pathogenic | X | 31645930 | 31645930 | G | A | criteria provided, single submitter | ClinGen:CA412657352 |
| Deletion | NC_000001.11:g.(?_156114899)_(156139859_?)del | LMNA | Pathogenic | 1 | 156084690 | 156109650 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000001.11:g.(?_156114899)_(156126243_?)del | LMNA | Pathogenic | 1 | 156084690 | 156096034 | na | na | criteria provided, single submitter | - |
| Duplication | NM_170707.4(LMNA):c.52_53dup (p.Thr19fs) | LMNA | Pathogenic | 1 | 156084759 | 156084760 | G | GCT | criteria provided, single submitter | ClinGen:CA658795525 |
| Duplication | NM_170707.4(LMNA):c.248_251dup (p.Glu84fs) | LMNA | Pathogenic | 1 | 156084956 | 156084957 | G | GCCGA | criteria provided, single submitter | ClinGen:CA658795526 |
| single nucleotide variant | NM_170707.4(LMNA):c.391C>T (p.Gln131Ter) | LMNA | Pathogenic | 1 | 156100442 | 156100442 | C | T | criteria provided, single submitter | ClinGen:CA342815144 |
| Duplication | NM_170707.4(LMNA):c.729dup (p.Ala244fs) | LMNA | Pathogenic | 1 | 156104684 | 156104685 | A | AT | criteria provided, single submitter | ClinGen:CA658795528 |
| Indel | NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp) | LMNA | Pathogenic | 1 | 156104700 | 156104701 | GC | TT | criteria provided, single submitter | ClinGen:CA658795529 |
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