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.3106_3112dup (p.Val1038fs) | KCNH2 | Likely pathogenic | 7 | 150644455 | 150644456 | A | ACGTCGCC | criteria provided, single submitter | ClinGen:CA658797027 |
| Deletion | NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs) | KCNH2 | Pathogenic | 7 | 150644462 | 150644475 | CCCCGGGGCCGCCGA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658761310 |
| Deletion | NM_000238.4(KCNH2):c.2398+1_2398+8del | KCNH2 | Pathogenic | 7 | 150647248 | 150647255 | ACCCCATAC | A | criteria provided, single submitter | ClinGen:CA658797042 |
| Deletion | NM_000238.4(KCNH2):c.221_251del (p.Thr74fs) | KCNH2 | Pathogenic | 7 | 150671855 | 150671885 | CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658761346 |
| single nucleotide variant | NM_000238.4(KCNH2):c.3330+1G>A | KCNH2 | Pathogenic | 7 | 150643964 | 150643964 | C | T | criteria provided, single submitter | ClinGen:CA369851864 |
| single nucleotide variant | NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter) | KCNH2 | Pathogenic | 7 | 150644102 | 150644102 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA369852293 |
| Deletion | NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs) | KCNH2 | Pathogenic | 7 | 150644466 | 150644478 | GGGGCCGCCGACCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658760375 |
| Duplication | NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150644474 | 150644475 | G | GACCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797031 |
| Deletion | NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs) | KCNH2 | Pathogenic | 7 | 150644887 | 150644896 | CCCCCGGCCGG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797033 |
| Deletion | NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs) | KCNH2 | Pathogenic | 7 | 150645538 | 150645544 | TCCGTGCG | T | criteria provided, single submitter | ClinGen:CA658797036 |
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