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) | ||||||||||
| Duplication | NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) | KCNH2 | Pathogenic | 7 | 150645543 | 150645544 | C | CGCCT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797037 |
| Deletion | NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs) | KCNH2 | Pathogenic | 7 | 150646085 | 150646094 | ACTTGCCAGGC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797040 |
| Deletion | NM_000238.4(KCNH2):c.2236del (p.Ala746fs) | KCNH2 | Pathogenic | 7 | 150647418 | 150647418 | GC | G | criteria provided, single submitter | ClinGen:CA658797045 |
| Deletion | NM_000238.4(KCNH2):c.1888del (p.Val630fs) | KCNH2 | Pathogenic | 7 | 150648593 | 150648593 | AC | A | criteria provided, single submitter | ClinGen:CA658797026 |
| Deletion | NM_000238.4(KCNH2):c.1620del (p.Arg541fs) | KCNH2 | Pathogenic | 7 | 150648861 | 150648861 | GA | G | criteria provided, single submitter | ClinGen:CA658797035 |
| Insertion | NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs) | KCNH2 | Pathogenic | 7 | 150655251 | 150655252 | C | CT | criteria provided, single submitter | ClinGen:CA658797047 |
| Indel | NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs) | KCNH2 | Pathogenic | 7 | 150655255 | 150655258 | TCCG | ACT | criteria provided, single submitter | ClinGen:CA658797048 |
| Indel | NM_000238.4(KCNH2):c.307_307+1delinsTT | KCNH2 | Pathogenic | 7 | 150671798 | 150671799 | CC | AA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797053 |
| single nucleotide variant | NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter) | KCNH2 | Pathogenic | 7 | 150671944 | 150671944 | G | C | criteria provided, single submitter | ClinGen:CA369865774 |
| single nucleotide variant | NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) | KCNH2 | Likely pathogenic | 7 | 150672014 | 150672014 | A | T | criteria provided, single submitter | ClinGen:CA369865998 |
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