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.1097G>A (p.Arg366Gln) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2606506 | 2606506 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA005263,UniProtKB:P51787#VAR_009929 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.1097G>C (p.Arg366Pro) | KCNQ1 | Likely pathogenic | 11 | 2606506 | 2606506 | G | C | criteria provided, single submitter | ClinGen:CA005270,UniProtKB:P51787#VAR_001543 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His) | KCNQ1 | Likely pathogenic | 11 | 2606510 | 2606510 | G | T | criteria provided, single submitter | ClinGen:CA005281 |
| Deletion | NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) | KCNQ1 | Pathogenic | 11 | 2606530 | 2606533 | CTCAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA005342 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.1128+1G>T | KCNQ1 | Likely pathogenic | 11 | 2606538 | 2606538 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005355 |
| single nucleotide variant | NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2608811 | 2608811 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005394,UniProtKB:P51787#VAR_068312 |
| Duplication | NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) | KCNQ1 | Pathogenic | 11 | 2608866 | 2608867 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA005505 |
| Deletion | NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) | KCNQ1 | Pathogenic | 11 | 2609949 | 2609949 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA005556 |
| Duplication | NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2609948 | 2609949 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA005547 |
| Duplication | NM_000218.3(KCNQ1):c.1291dup (p.Val431fs) | KCNQ1 | Pathogenic | 11 | 2609978 | 2609979 | T | TG | criteria provided, single submitter | ClinGen:CA005571 |
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