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_000218.3(KCNQ1):c.1733-1G>C | KCNQ1 | Pathogenic | 11 | 2799205 | 2799205 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10575755 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu) | KCNQ1 | Pathogenic | 11 | 2466329 | 2466329 | A | T | criteria provided, single submitter | ClinGen:CA350383 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro) | KCNQ1 | Likely pathogenic | 11 | 2591949 | 2591949 | G | C | criteria provided, single submitter | ClinGen:CA10582882 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro) | KCNQ1 | Likely pathogenic | 11 | 2606520 | 2606520 | G | C | criteria provided, single submitter | ClinGen:CA10582883 |
| Duplication | NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591894 | 2591895 | G | GTGGTCCGCCTC | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586242 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser) | KCNQ1 | Likely pathogenic | 11 | 2466677 | 2466677 | C | T | criteria provided, single submitter | ClinGen:CA10586353 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591944 | 2591944 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587720 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591893 | 2591893 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588516 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser) | KCNQ1 | Pathogenic | 11 | 2593250 | 2593250 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603201 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.922-1G>A | KCNQ1 | Pathogenic | 11 | 2604664 | 2604664 | G | A | criteria provided, single submitter | ClinGen:CA16042741 |
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