Knowledge base for genomic medicine in Japanese
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カテコラミン誘発性多形性心室頻拍
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_001035.3(RYR2):c.1646C>T (p.Ala549Val) | RYR2 | Likely pathogenic | 1 | 237632425 | 237632425 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237777598 | 237777598 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA009802 |
| single nucleotide variant | NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe) | RYR2 | Likely pathogenic | 1 | 237796920 | 237796920 | C | T | criteria provided, single submitter | ClinGen:CA010231 |
| single nucleotide variant | NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val) | RYR2 | Likely pathogenic | 1 | 237797005 | 237797005 | G | T | criteria provided, single submitter | ClinGen:CA010248 |
| single nucleotide variant | NM_001035.3(RYR2):c.6883G>A (p.Gly2295Arg) | RYR2 | Likely pathogenic | 1 | 237801747 | 237801747 | G | A | criteria provided, single submitter | ClinGen:CA010358 |
| single nucleotide variant | NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237801780 | 237801780 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010384,UniProtKB:Q92736#VAR_023694 |
| single nucleotide variant | NM_001035.3(RYR2):c.6916G>C (p.Val2306Leu) | RYR2 | Pathogenic | 1 | 237801780 | 237801780 | G | C | criteria provided, single submitter | ClinGen:CA010389 |
| single nucleotide variant | NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys) | RYR2 | Likely pathogenic | 1 | 237802326 | 237802326 | G | A | criteria provided, single submitter | ClinGen:CA010419 |
| single nucleotide variant | NM_001035.3(RYR2):c.6950C>A (p.Ala2317Glu) | RYR2 | Likely pathogenic | 1 | 237802336 | 237802336 | C | A | criteria provided, single submitter | ClinGen:CA010438 |
| single nucleotide variant | NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237804240 | 237804240 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010573 |
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