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_001005242.3(PKP2):c.369G>A (p.Trp123Ter) | PKP2 | Pathogenic | 12 | 33031445 | 33031445 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012284 |
| Deletion | NM_001005242.3(PKP2):c.314del (p.Pro105fs) | PKP2 | Pathogenic | 12 | 33031876 | 33031876 | AG | A | criteria provided, single submitter | ClinGen:CA012256 |
| single nucleotide variant | NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter) | PKP2 | Pathogenic | 12 | 33031915 | 33031915 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012238 |
| Duplication | NM_001005242.3(PKP2):c.256dup (p.Tyr86fs) | PKP2 | Pathogenic | 12 | 33031933 | 33031934 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA308754 |
| Deletion | NM_001005242.3(PKP2):c.240del (p.Ser81fs) | PKP2 | Pathogenic | 12 | 33031950 | 33031950 | TG | T | criteria provided, single submitter | ClinGen:CA012005 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1A>G (p.Met1Val) | PKP2 | Pathogenic/Likely pathogenic | 12 | 33049665 | 33049665 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) | TGFB3 | Pathogenic/Likely pathogenic | 14 | 76429687 | 76429687 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA203905,OMIM:190230.0006 |
| single nucleotide variant | NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter) | RYR2 | Likely pathogenic | 1 | 237664043 | 237664043 | C | T | criteria provided, single submitter | ClinGen:CA279868 |
| single nucleotide variant | NM_001035.3(RYR2):c.2238A>C (p.Gln746His) | RYR2 | Likely pathogenic | 1 | 237664045 | 237664045 | A | C | criteria provided, single submitter | ClinGen:CA279850 |
| single nucleotide variant | NM_170707.4(LMNA):c.810+1G>C | LMNA | Pathogenic | 1 | 156104767 | 156104767 | G | C | criteria provided, single submitter | ClinGen:CA277528 |
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