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_000335.5(SCN5A):c.2533del (p.Val845fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38627436 | 38627436 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016249 |
| single nucleotide variant | NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe) | SCN5A | Pathogenic | 3 | 38627487 | 38627487 | G | A | criteria provided, single submitter | - |
| Deletion | NM_000335.5(SCN5A):c.2343del (p.Gly780_Trp781insTer) | SCN5A | Pathogenic | 3 | 38628984 | 38628984 | TC | T | criteria provided, single submitter | ClinGen:CA016100 |
| single nucleotide variant | NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr) | SCN5A | Pathogenic | 3 | 38629036 | 38629036 | A | G | criteria provided, single submitter | ClinGen:CA016037 |
| Deletion | NM_000335.5(SCN5A):c.2103del (p.Leu702fs) | SCN5A | Pathogenic | 3 | 38639379 | 38639379 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA015846 |
| single nucleotide variant | NM_000335.5(SCN5A):c.2023+2T>A | SCN5A | Pathogenic | 3 | 38640407 | 38640407 | A | T | criteria provided, single submitter | ClinGen:CA015749 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1891-1G>A | SCN5A | Pathogenic | 3 | 38640542 | 38640542 | C | T | criteria provided, single submitter | ClinGen:CA015498 |
| Deletion | NM_000335.5(SCN5A):c.1753del (p.His585fs) | SCN5A | Pathogenic | 3 | 38645340 | 38645340 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015310 |
| Deletion | NM_000335.5(SCN5A):c.1711del (p.Ser571fs) | SCN5A | Pathogenic | 3 | 38645382 | 38645382 | CT | C | criteria provided, single submitter | ClinGen:CA015225 |
| Deletion | NM_000335.5(SCN5A):c.1583_1584del (p.Ser528fs) | SCN5A | Pathogenic | 3 | 38645509 | 38645510 | TGC | T | criteria provided, single submitter | ClinGen:CA015010 |
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