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) | ||||||||||
| Deletion | NM_000238.4(KCNH2):c.154del (p.Cys52fs) | KCNH2 | Pathogenic | 7 | 150671952 | 150671952 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004782 |
| single nucleotide variant | NM_000238.4(KCNH2):c.147C>G (p.Cys49Trp) | KCNH2 | Pathogenic | 7 | 150671959 | 150671959 | G | C | criteria provided, single submitter | ClinGen:CA004708 |
| single nucleotide variant | NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150671967 | 150671967 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004565 |
| single nucleotide variant | NM_000238.4(KCNH2):c.125T>C (p.Ile42Thr) | KCNH2 | Pathogenic | 7 | 150671981 | 150671981 | A | G | criteria provided, single submitter | ClinGen:CA004336 |
| single nucleotide variant | NM_000238.4(KCNH2):c.119C>T (p.Ala40Val) | KCNH2 | Likely pathogenic | 7 | 150671987 | 150671987 | G | A | criteria provided, single submitter | ClinGen:CA004270 |
| Deletion | NM_000238.4(KCNH2):c.106del (p.Val36fs) | KCNH2 | Pathogenic | 7 | 150672000 | 150672000 | AC | A | criteria provided, single submitter | ClinGen:CA004203 |
| Deletion | NM_000238.4(KCNH2):c.100del (p.Ala34fs) | KCNH2 | Pathogenic | 7 | 150672006 | 150672006 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA004165 |
| Duplication | NM_000238.4(KCNH2):c.81dup (p.Lys28Ter) | KCNH2 | Pathogenic | 7 | 150672024 | 150672025 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA305341 |
| single nucleotide variant | NM_000238.4(KCNH2):c.77-1G>A | KCNH2 | Likely pathogenic | 7 | 150672030 | 150672030 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008799 |
| single nucleotide variant | NM_000238.4(KCNH2):c.76+2T>G | KCNH2 | Pathogenic | 7 | 150674924 | 150674924 | A | C | criteria provided, single submitter | ClinGen:CA008788 |
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