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_000238.4(KCNH2):c.472+1G>A | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150656659 | 150656659 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618414 |
| Deletion | NM_000238.4(KCNH2):c.395_456del (p.Val132fs) | KCNH2 | Pathogenic | 7 | 150656676 | 150656737 | TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA | T | criteria provided, single submitter | ClinGen:CA16618415 |
| Duplication | NM_000238.4(KCNH2):c.331_337dup (p.Val113fs) | KCNH2 | Likely pathogenic | 7 | 150656794 | 150656795 | A | ACCACATC | criteria provided, single submitter | ClinGen:CA16618416 |
| single nucleotide variant | NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter) | KCNH2 | Pathogenic | 7 | 150671942 | 150671942 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618417 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val) | KCNH2 | Likely pathogenic | 7 | 150648184 | 150648184 | C | A | criteria provided, single submitter | ClinGen:CA369857738 |
| Indel | NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs) | KCNH2 | Pathogenic | 7 | 150655394 | 150655398 | TGCCA | G | criteria provided, single submitter | ClinGen:CA645294046 |
| Deletion | NM_000238.4(KCNH2):c.2038del (p.Val680fs) | KCNH2 | Pathogenic | 7 | 150648116 | 150648116 | AC | A | criteria provided, single submitter | ClinGen:CA645372847 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg) | KCNH2 | Likely pathogenic | 7 | 150648202 | 150648202 | A | C | criteria provided, single submitter | ClinGen:CA369857777 |
| Duplication | NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) | KCNH2 | Pathogenic | 7 | 150645544 | 150645545 | G | GCCTGC | criteria provided, single submitter | ClinGen:CA645372848 |
| Deletion | NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs) | KCNH2 | Pathogenic | 7 | 150644720 | 150644724 | GCTCTT | G | criteria provided, single submitter | ClinGen:CA645372845 |
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