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.1511del (p.Gly504fs) | PKP2 | Pathogenic | 12 | 32994007 | 32994007 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011269 |
| Deletion | NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer) | PKP2 | Pathogenic | 12 | 32994071 | 32994071 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011187 |
| Deletion | NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs) | PKP2 | Pathogenic | 12 | 32994110 | 32994119 | TTGTCATTAGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011118 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1378+2T>A | PKP2 | Pathogenic | 12 | 33003698 | 33003698 | A | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001005242.3(PKP2):c.1378G>C (p.Gly460Arg) | PKP2 | Pathogenic | 12 | 33003700 | 33003700 | C | G | criteria provided, single submitter | ClinGen:CA011019 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1248T>A (p.Cys416Ter) | PKP2 | Pathogenic | 12 | 33003830 | 33003830 | A | T | criteria provided, single submitter | ClinGen:CA010926 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1171-2A>G | PKP2 | Pathogenic | 12 | 33003909 | 33003909 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA010887 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) | PKP2 | Pathogenic/Likely pathogenic | 12 | 33021869 | 33021869 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010825 |
| Deletion | NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs) | PKP2 | Pathogenic | 12 | 33021899 | 33021906 | TGTATGAAA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA010803 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) | PKP2 | Pathogenic | 12 | 33021968 | 33021968 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010728 |
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