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) | ||||||||||
| Deletion | NM_000238.4(KCNH2):c.678del (p.Ala228fs) | KCNH2 | Pathogenic | 7 | 150655385 | 150655385 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008674 |
| Deletion | NM_000238.4(KCNH2):c.572del (p.Pro191fs) | KCNH2 | Pathogenic | 7 | 150655491 | 150655491 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008611 |
| Deletion | NM_000238.4(KCNH2):c.565_568del (p.Gly189fs) | KCNH2 | Pathogenic | 7 | 150655495 | 150655498 | GCGCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008597 |
| Deletion | NM_000238.4(KCNH2):c.453del (p.Thr152fs) | KCNH2 | Pathogenic | 7 | 150656679 | 150656679 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008472 |
| single nucleotide variant | NM_000238.4(KCNH2):c.379C>T (p.Leu127Phe) | KCNH2 | Likely pathogenic | 7 | 150656753 | 150656753 | G | A | criteria provided, single submitter | ClinGen:CA008393 |
| Insertion | NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) | KCNH2 | Pathogenic | 7 | 150656758 | 150656759 | A | ACCAC | criteria provided, single submitter | ClinGen:CA008376 |
| single nucleotide variant | NM_000238.4(KCNH2):c.344T>G (p.Val115Gly) | KCNH2 | Pathogenic | 7 | 150656788 | 150656788 | A | C | criteria provided, single submitter | ClinGen:CA008322 |
| single nucleotide variant | NM_000238.4(KCNH2):c.303A>T (p.Lys101Asn) | KCNH2 | Pathogenic | 7 | 150671803 | 150671803 | T | A | criteria provided, single submitter | ClinGen:CA007841 |
| single nucleotide variant | NM_000238.4(KCNH2):c.301A>T (p.Lys101Ter) | KCNH2 | Pathogenic | 7 | 150671805 | 150671805 | T | A | criteria provided, single submitter | ClinGen:CA007825 |
| single nucleotide variant | NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter) | KCNH2 | Pathogenic | 7 | 150671950 | 150671950 | G | T | criteria provided, single submitter | - |
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