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.664C>T (p.Arg222Ter) | SCN5A | Pathogenic | 3 | 38655273 | 38655273 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA019700 |
| single nucleotide variant | NM_000335.5(SCN5A):c.664C>G (p.Arg222Gly) | SCN5A | Likely pathogenic | 3 | 38655273 | 38655273 | G | C | criteria provided, single submitter | ClinGen:CA019695 |
| single nucleotide variant | NM_000335.5(SCN5A):c.611+1G>A | SCN5A | Pathogenic | 3 | 38662333 | 38662333 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA019622 |
| single nucleotide variant | NM_000335.5(SCN5A):c.483-1G>A | SCN5A | Pathogenic/Likely pathogenic | 3 | 38662463 | 38662463 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA018624 |
| Deletion | NM_000335.5(SCN5A):c.57del (p.Glu19fs) | SCN5A | Pathogenic | 3 | 38674742 | 38674742 | AC | A | criteria provided, single submitter | ClinGen:CA019479 |
| Indel | NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) | SCN5A | Pathogenic | 3 | 38593016 | 38593018 | AAG | TAC | criteria provided, single submitter | ClinGen:CA335886 |
| single nucleotide variant | NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter) | SCN5A | Pathogenic | 3 | 38601701 | 38601701 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA338535 |
| single nucleotide variant | NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter) | SCN5A | Pathogenic | 3 | 38595811 | 38595811 | C | T | criteria provided, single submitter | ClinGen:CA279603 |
| single nucleotide variant | NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38620863 | 38620863 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA352047 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1252G>T (p.Glu418Ter) | SCN5A | Likely pathogenic | 3 | 38647528 | 38647528 | C | A | criteria provided, single submitter | ClinGen:CA352012 |
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