Knowledge base for genomic medicine in Japanese
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不整脈原性右室心筋症
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.567A>T (p.Glu189Asp) | RYR2 | Likely pathogenic | 1 | 237540726 | 237540726 | A | T | criteria provided, single submitter | ClinGen:CA345375725 |
| single nucleotide variant | NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg) | RYR2 | Likely pathogenic | 1 | 237802395 | 237802395 | G | C | criteria provided, single submitter | ClinGen:CA345395895 |
| single nucleotide variant | NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) | RYR2 | Pathogenic | 1 | 237969536 | 237969536 | A | G | criteria provided, single submitter | ClinGen:CA345423159 |
| single nucleotide variant | NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys) | RYR2 | Pathogenic | 1 | 237982492 | 237982492 | G | T | criteria provided, single submitter | ClinGen:CA345426888 |
| Deletion | NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) | DSP | Pathogenic/Likely pathogenic | 6 | 7580728 | 7580732 | CCACTG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655954 |
| Deletion | NM_004415.4(DSP):c.465del (p.Ile156fs) | DSP | Pathogenic | 6 | 7559500 | 7559500 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657574 |
| Deletion | NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) | DSP | Pathogenic | 6 | 7578081 | 7578082 | GAC | G | criteria provided, single submitter | ClinGen:CA658655944 |
| Duplication | NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) | DSP | Pathogenic | 6 | 7578754 | 7578755 | A | AGGTT | criteria provided, single submitter | ClinGen:CA658655945 |
| single nucleotide variant | NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7579556 | 7579556 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA362683067 |
| Duplication | NM_004415.4(DSP):c.5460dup (p.Val1821fs) | DSP | Pathogenic | 6 | 7582952 | 7582953 | C | CA | criteria provided, single submitter | ClinGen:CA658657576 |
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