Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
悪性高熱症
小児・神経疾患
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_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) | RYR1 | Likely pathogenic | 19 | 39068594 | 39068594 | C | T | reviewed by expert panel | ClinGen:CA024116,UniProtKB:P21817#VAR_045750 |
| single nucleotide variant | NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) | RYR1 | Pathogenic | 19 | 39068595 | 39068595 | G | A | reviewed by expert panel | ClinGen:CA024118,UniProtKB:P21817#VAR_045749 |
| single nucleotide variant | NM_000540.3(RYR1):c.14627A>G (p.Lys4876Arg) | RYR1 | Likely pathogenic | 19 | 39071125 | 39071125 | A | G | reviewed by expert panel | ClinGen:CA024200,UniProtKB:P21817#VAR_045766 |
| single nucleotide variant | NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39071143 | 39071143 | C | T | criteria provided, multiple submitters, no conflicts | ClinVar:424825,ClinGen:CA024204,UniProtKB:P21817#VAR_068521 |
| single nucleotide variant | NM_000540.3(RYR1):c.14804-1G>T | RYR1 | Likely pathogenic | 19 | 39076577 | 39076577 | G | T | criteria provided, single submitter | ClinGen:CA024259 |
| single nucleotide variant | NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) | RYR1 | Likely pathogenic | 19 | 39076780 | 39076780 | C | T | reviewed by expert panel | ClinGen:CA024276,UniProtKB:P21817#VAR_045782 |
| single nucleotide variant | NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys) | RYR1 | Likely pathogenic | 19 | 38945999 | 38945999 | A | G | reviewed by expert panel | ClinGen:CA024287 |
| single nucleotide variant | NM_000540.3(RYR1):c.1589G>A (p.Arg530His) | RYR1 | Likely pathogenic | 19 | 38946103 | 38946103 | G | A | reviewed by expert panel | ClinGen:CA024291,UniProtKB:P21817#VAR_058563 |
| single nucleotide variant | NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu) | RYR1 | Likely pathogenic | 19 | 38946129 | 38946129 | T | C | reviewed by expert panel | ClinGen:CA024297 |
| single nucleotide variant | NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) | RYR1 | Likely pathogenic | 19 | 38924507 | 38924507 | T | G | reviewed by expert panel | UniProtKB:P21817#VAR_058560,ClinGen:CA024414 |
Copyright © Japan Institute for Health Security. All rights reserved.