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 | NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer) | TTN | Likely pathogenic | 2 | 179473007 | 179473034 | AATAAGCCATCTACATTGGCTTTCAAGGC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610476 |
| single nucleotide variant | NM_001267550.2(TTN):c.15496+1G>T | TTN | Pathogenic/Likely pathogenic | 2 | 179599054 | 179599054 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610517 |
| single nucleotide variant | NM_001927.4(DES):c.394C>T (p.Gln132Ter) | DES | Pathogenic | 2 | 220283578 | 220283578 | C | T | criteria provided, single submitter | ClinGen:CA16610670 |
| Duplication | NM_000337.6(SGCD):c.74_77dup (p.Ile27fs) | SGCD | Pathogenic | 5 | 155771566 | 155771567 | A | AGGTG | criteria provided, single submitter | ClinGen:CA16611801 |
| single nucleotide variant | NM_004168.4(SDHA):c.2T>C (p.Met1Thr) | SDHA | Pathogenic/Likely pathogenic | 5 | 218472 | 218472 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611812 |
| Deletion | NM_004168.4(SDHA):c.762_770+17del | SDHA | Pathogenic/Likely pathogenic | 5 | 228439 | 228464 | GTTGCCACAGGGTAGGAATCTCATTTC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611876 |
| single nucleotide variant | NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) | SDHA | Pathogenic/Likely pathogenic | 5 | 230998 | 230998 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611878 |
| Duplication | NM_004168.4(SDHA):c.1615dup (p.Ile539fs) | SDHA | Pathogenic | 5 | 251166 | 251167 | G | GA | criteria provided, single submitter | ClinGen:CA16611891 |
| single nucleotide variant | NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) | SDHA | Pathogenic | 5 | 233681 | 233681 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611943 |
| single nucleotide variant | NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) | SDHA | Likely pathogenic | 5 | 251555 | 251555 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA3173350 |
Copyright © Japan Institute for Health Security. All rights reserved.