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) | ||||||||||
| Deletion | NM_001005242.3(PKP2):c.2253del (p.Cys752fs) | PKP2 | Pathogenic | 12 | 32949147 | 32949147 | AG | A | criteria provided, single submitter | ClinGen:CA011978 |
| Deletion | NM_001005242.3(PKP2):c.2169del (p.Glu725fs) | PKP2 | Pathogenic | 12 | 32949231 | 32949231 | TG | T | criteria provided, single submitter | ClinGen:CA011897 |
| single nucleotide variant | NM_001005242.3(PKP2):c.2167+1G>T | PKP2 | Likely pathogenic | 12 | 32955336 | 32955336 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_001005242.3(PKP2):c.2167+1G>A | PKP2 | Pathogenic/Likely pathogenic | 12 | 32955336 | 32955336 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011854 |
| Deletion | NM_001005242.3(PKP2):c.2142del (p.Asn715fs) | PKP2 | Likely pathogenic | 12 | 32955362 | 32955362 | TC | T | criteria provided, single submitter | ClinGen:CA011846 |
| 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 |
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