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_000335.5(SCN5A):c.2933G>A (p.Trp978Ter) | SCN5A | Pathogenic | 3 | 38622717 | 38622717 | C | T | criteria provided, single submitter | ClinGen:CA16611275 |
| single nucleotide variant | NM_000335.5(SCN5A):c.2787+1G>T | SCN5A | Likely pathogenic | 3 | 38627181 | 38627181 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611280 |
| Deletion | NM_000335.5(SCN5A):c.104del (p.Gly35fs) | SCN5A | Pathogenic | 3 | 38674695 | 38674695 | GC | G | criteria provided, single submitter | ClinGen:CA16611295 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter) | SCN5A | Pathogenic | 3 | 38592273 | 38592273 | C | A | criteria provided, single submitter | ClinGen:CA16611370 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter) | SCN5A | Pathogenic | 3 | 38592435 | 38592435 | C | A | criteria provided, single submitter | ClinGen:CA16611373 |
| single nucleotide variant | NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38620930 | 38620930 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611385 |
| single nucleotide variant | NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter) | SCN5A | Pathogenic | 3 | 38651255 | 38651255 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611395 |
| Deletion | NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38592443 | 38592446 | CTGAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611455 |
| Deletion | NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38622628 | 38622640 | GGGGTGGCAATGCA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611470 |
| Duplication | NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs) | SCN5A | Likely pathogenic | 3 | 38592329 | 38592330 | C | CCACT | criteria provided, single submitter | ClinGen:CA16617941 |
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