Knowledge base for genomic medicine in Japanese
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ブルガダ症候群
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) | ||||||||||
| Deletion | NM_001005242.3(PKP2):c.837_838del (p.Val280fs) | PKP2 | Pathogenic | 12 | 33030976 | 33030977 | ACG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012527 |
| single nucleotide variant | NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) | PKP2 | Pathogenic | 12 | 33031151 | 33031151 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012429 |
| Deletion | NM_001005242.3(PKP2):c.623del (p.Thr208fs) | PKP2 | Pathogenic | 12 | 33031191 | 33031191 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012419 |
| Duplication | NM_001005242.3(PKP2):c.533dup (p.His179fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 33031280 | 33031281 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA308755 |
| single nucleotide variant | NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) | PKP2 | Pathogenic | 12 | 33031417 | 33031417 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012301 |
| 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 |
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