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.1557+1G>A | KCNH2 | Pathogenic | 7 | 150649512 | 150649512 | C | T | criteria provided, single submitter | ClinGen:CA10587640 |
| Deletion | NM_000238.4(KCNH2):c.234_241del (p.Ala79fs) | KCNH2 | Pathogenic | 7 | 150671865 | 150671872 | TGCGCGGCA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587645 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2145+1G>A | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150648008 | 150648008 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588421 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg) | KCNH2 | Likely pathogenic | 7 | 150649832 | 150649832 | A | C | criteria provided, single submitter | ClinGen:CA10602712 |
| single nucleotide variant | NM_000238.4(KCNH2):c.3152+1G>T | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150644415 | 150644415 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042568 |
| Duplication | NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs) | KCNH2 | Pathogenic | 7 | 150644460 | 150644461 | G | GCC | criteria provided, single submitter | ClinGen:CA16042570 |
| Duplication | NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs) | KCNH2 | Pathogenic | 7 | 150644094 | 150644095 | T | TA | criteria provided, single submitter | ClinGen:CA16042588 |
| single nucleotide variant | NM_000238.4(KCNH2):c.3152+2T>C | KCNH2 | Pathogenic | 7 | 150644414 | 150644414 | A | G | criteria provided, single submitter | ClinGen:CA16042589 |
| Deletion | NM_000238.4(KCNH2):c.3099del (p.Arg1035fs) | KCNH2 | Pathogenic | 7 | 150644469 | 150644469 | GC | G | criteria provided, single submitter | ClinGen:CA16042677 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2398+1G>T | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150647255 | 150647255 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042692 |
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