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.834C>G (p.Tyr278Ter) | KCNQ1 | Pathogenic | 11 | 2594129 | 2594129 | C | G | criteria provided, single submitter | ClinGen:CA379131455 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys) | KCNQ1 | Pathogenic | 11 | 2466330 | 2466330 | T | A | criteria provided, single submitter | ClinGen:CA379115663 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter) | KCNQ1 | Likely pathogenic | 11 | 2466452 | 2466452 | G | T | criteria provided, single submitter | ClinGen:CA379116274 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter) | KCNQ1 | Pathogenic | 11 | 2466703 | 2466703 | C | A | criteria provided, single submitter | ClinGen:CA379117808 |
| Deletion | NM_000218.3(KCNQ1):c.510del (p.Glu170fs) | KCNQ1 | Pathogenic | 11 | 2591890 | 2591890 | AG | A | criteria provided, single submitter | ClinGen:CA658797566 |
| Deletion | NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591895 | 2591905 | GTGGTCCGCCTC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA5822077 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu) | KCNQ1 | Likely pathogenic | 11 | 2593251 | 2593251 | G | T | criteria provided, single submitter | ClinGen:CA379130913 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) | KCNQ1 | Pathogenic | 11 | 2593289 | 2593289 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA379130978 |
| Deletion | NM_000218.3(KCNQ1):c.20del (p.Pro7fs) | KCNQ1 | Likely pathogenic | 11 | 2466345 | 2466345 | TC | T | criteria provided, single submitter | ClinGen:CA658797570 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter) | KCNQ1 | Pathogenic | 11 | 2466422 | 2466422 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA379116142 |
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