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。
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.1881del (p.Lys628fs) | PKP2 | Pathogenic | 12 | 32974422 | 32974422 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011637 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) | PKP2 | Pathogenic | 12 | 32975421 | 32975421 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011579 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1723G>T (p.Glu575Ter) | PKP2 | Likely pathogenic | 12 | 32975517 | 32975517 | C | A | criteria provided, single submitter | ClinGen:CA011520 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1700T>G (p.Leu567Arg) | PKP2 | Likely pathogenic | 12 | 32975540 | 32975540 | A | C | criteria provided, single submitter | ClinGen:CA011478 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1672A>T (p.Lys558Ter) | PKP2 | Pathogenic | 12 | 32976981 | 32976981 | T | A | criteria provided, single submitter | ClinGen:CA011445 |
| Deletion | NM_001005242.3(PKP2):c.1671del (p.Asp557fs) | PKP2 | Pathogenic | 12 | 32976982 | 32976982 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011436 |
| Deletion | NM_001005242.3(PKP2):c.1667del (p.Asp556fs) | PKP2 | Pathogenic | 12 | 32976986 | 32976986 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011427 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1635T>G (p.Tyr545Ter) | PKP2 | Pathogenic | 12 | 32977018 | 32977018 | A | C | criteria provided, single submitter | ClinGen:CA011402 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1557-1G>C | PKP2 | Pathogenic | 12 | 32977097 | 32977097 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA011321 |
| Deletion | NM_001005242.3(PKP2):c.1532del (p.Phe511fs) | PKP2 | Pathogenic | 12 | 32993986 | 32993986 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA011282 |
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