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) | ||||||||||
| Indel | NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs) | KCNH2 | Likely pathogenic | 7 | 150644771 | 150644772 | GG | T | criteria provided, single submitter | ClinGen:CA16618401 |
| Deletion | NM_000238.4(KCNH2):c.2470del (p.Ala824fs) | KCNH2 | Pathogenic | 7 | 150646066 | 150646066 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618402 |
| Deletion | NM_000238.4(KCNH2):c.2415del (p.Phe805fs) | KCNH2 | Likely pathogenic | 7 | 150646121 | 150646121 | CA | C | criteria provided, single submitter | ClinGen:CA16618404 |
| Deletion | NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs) | KCNH2 | Likely pathogenic | 7 | 150648026 | 150648027 | CCG | C | criteria provided, single submitter | ClinGen:CA16618405 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150648071 | 150648071 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618406 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu) | KCNH2 | Pathogenic | 7 | 150648561 | 150648561 | G | C | criteria provided, single submitter | ClinGen:CA16618407 |
| Deletion | NM_000238.4(KCNH2):c.1883del (p.Gly628fs) | KCNH2 | Pathogenic | 7 | 150648598 | 150648598 | GC | G | criteria provided, single submitter | ClinGen:CA16618408 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter) | KCNH2 | Pathogenic | 7 | 150648755 | 150648755 | G | A | criteria provided, single submitter | ClinGen:CA16618410 |
| Deletion | NM_000238.4(KCNH2):c.1513del (p.Ala505fs) | KCNH2 | Pathogenic | 7 | 150649557 | 150649557 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618411 |
| Deletion | NM_000238.4(KCNH2):c.1048del (p.Ala350fs) | KCNH2 | Likely pathogenic | 7 | 150654459 | 150654459 | GC | G | criteria provided, single submitter | ClinGen:CA16618413 |
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