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。
ブルガダ症候群
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_000238.4(KCNH2):c.1139del (p.Leu380fs) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150649931 | 150649931 | CA | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg) | CACNA1C | Pathogenic | 12 | 2702418 | 2702418 | C | G | criteria provided, single submitter | OMIM:114205.0005 |
| single nucleotide variant | NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) | SCN5A | Likely pathogenic | 3 | 38597226 | 38597226 | G | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr) | SCN5A | Likely pathogenic | 3 | 38648234 | 38648234 | C | A | criteria provided, single submitter | - |
| Duplication | NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) | KCNH2 | Pathogenic | 7 | 150644459 | 150644460 | C | CG | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000238.4(KCNH2):c.46del (p.Asp16fs) | KCNH2 | Pathogenic | 7 | 150674956 | 150674956 | TC | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38616881 | 38616881 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_000335.5(SCN5A):c.2298dup (p.Lys767fs) | SCN5A | Pathogenic | 3 | 38629028 | 38629029 | T | TG | criteria provided, single submitter | - |
| single nucleotide variant | NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter) | SCN5A | Pathogenic | 3 | 38648165 | 38648165 | G | A | criteria provided, single submitter | - |
| Deletion | NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs) | KCNH2 | Pathogenic | 7 | 150644064 | 150644070 | AGGCGGGC | A | criteria provided, multiple submitters, no conflicts | - |
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