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.642C>A (p.Cys214Ter) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2592592 | 2592592 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007812 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.679A>C (p.Ile227Leu) | KCNQ1 | Likely pathogenic | 11 | 2592629 | 2592629 | A | C | criteria provided, single submitter | ClinGen:CA007887 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.701A>C (p.Gln234Pro) | KCNQ1 | Likely pathogenic | 11 | 2593260 | 2593260 | A | C | criteria provided, single submitter | ClinGen:CA007932 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.707T>G (p.Leu236Arg) | KCNQ1 | Likely pathogenic | 11 | 2593266 | 2593266 | T | G | criteria provided, single submitter | ClinGen:CA007950 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.758C>T (p.Ser253Phe) | KCNQ1 | Likely pathogenic | 11 | 2593317 | 2593317 | C | T | criteria provided, single submitter | ClinGen:CA008099 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.805G>C (p.Gly269Arg) | KCNQ1 | Pathogenic | 11 | 2594100 | 2594100 | G | C | criteria provided, single submitter | ClinGen:CA008284 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.806G>T (p.Gly269Val) | KCNQ1 | Pathogenic | 11 | 2594101 | 2594101 | G | T | criteria provided, single submitter | ClinGen:CA008303 |
| Deletion | NM_000218.3(KCNQ1):c.919_921+9del | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2594212 | 2594223 | GGGGTGGTAAGTC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA305973 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2604689 | 2604689 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008840 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter) | KCNQ1 | Pathogenic | 11 | 2604704 | 2604704 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008923 |
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