Knowledge base for genomic medicine in Japanese
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先天性QT延長症候群
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) | ||||||||||
| 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 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1519-1G>A | SCN5A | Likely pathogenic | 3 | 38645575 | 38645575 | C | T | criteria provided, single submitter | - |
| Deletion | NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38646307 | 38646310 | TCTTG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014854 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1167C>A (p.Tyr389Ter) | SCN5A | Pathogenic | 3 | 38647613 | 38647613 | G | T | criteria provided, single submitter | ClinGen:CA014445 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1134T>A (p.Tyr378Ter) | SCN5A | Pathogenic | 3 | 38648166 | 38648166 | A | T | criteria provided, single submitter | ClinGen:CA014398 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1080G>A (p.Trp360Ter) | SCN5A | Pathogenic | 3 | 38648220 | 38648220 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014295 |
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