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.3017del (p.Gly1006fs) | KCNH2 | Pathogenic | 7 | 150644551 | 150644551 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007808 |
| single nucleotide variant | NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr) | KCNH2 | Likely pathogenic | 7 | 150644561 | 150644561 | C | A | criteria provided, single submitter | ClinGen:CA007791 |
| single nucleotide variant | NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) | KCNH2 | Pathogenic | 7 | 150644566 | 150644566 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007773 |
| Duplication | NM_000238.4(KCNH2):c.2966-2_2967dup | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150644600 | 150644601 | C | CGCCT | criteria provided, multiple submitters, no conflicts | ClinGen:CA305334 |
| Deletion | NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) | KCNH2 | Pathogenic | 7 | 150644699 | 150644700 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007697 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2952C>A (p.Cys984Ter) | KCNH2 | Pathogenic | 7 | 150644707 | 150644707 | G | T | criteria provided, single submitter | ClinGen:CA007683 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2932G>T (p.Glu978Ter) | KCNH2 | Pathogenic | 7 | 150644727 | 150644727 | C | A | criteria provided, single submitter | ClinGen:CA007657 |
| Duplication | NM_000238.4(KCNH2):c.2916_2917dup (p.Leu973fs) | KCNH2 | Pathogenic | 7 | 150644741 | 150644742 | A | AGG | criteria provided, single submitter | ClinGen:CA305333 |
| Deletion | NM_000238.4(KCNH2):c.2906del (p.Gly969fs) | KCNH2 | Pathogenic | 7 | 150644753 | 150644753 | AC | A | criteria provided, single submitter | ClinGen:CA007627 |
| Duplication | NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150644766 | 150644767 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA305331 |
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