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) | ||||||||||
| Duplication | NM_001005242.3(PKP2):c.1211dup (p.Val406fs) | PKP2 | Pathogenic | 12 | 33003866 | 33003867 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA010901 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) | PKP2 | Pathogenic | 12 | 33003841 | 33003841 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010558 |
| Deletion | NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) | PKP2 | Likely pathogenic | 12 | 33003706 | 33003709 | ATTTG | A | criteria provided, single submitter | ClinGen:CA010987 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1378+1G>C | PKP2 | Pathogenic/Likely pathogenic | 12 | 33003699 | 33003699 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA011004 |
| Deletion | NM_001005242.3(PKP2):c.14del (p.Gly5fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 33049652 | 33049652 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA011095 |
| Deletion | NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) | PKP2 | Pathogenic | 12 | 33049515 | 33049518 | ACTGT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011079 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) | PKP2 | Pathogenic | 12 | 32994036 | 32994036 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011243 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1556+1G>A | PKP2 | Pathogenic/Likely pathogenic | 12 | 32993961 | 32993961 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011303 |
| Deletion | NM_001005242.3(PKP2):c.1577del (p.Ala526fs) | PKP2 | Likely pathogenic | 12 | 32977076 | 32977076 | AG | A | criteria provided, single submitter | ClinGen:CA011338 |
| Deletion | NM_001005242.3(PKP2):c.1627del (p.Val543fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32977026 | 32977026 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011381 |
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