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。
家族性高コレステロール血症
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) | ||||||||||
| Duplication | c.(1845+1_1846-1)_(2140+1_2141-1)dup | LDLR | Pathogenic | 19 | 11227675 | 11233849 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001281 |
| Deletion | c.(1845+1_1846-1)_(2311+1_2312-1)del | LDLR | Pathogenic | 19 | 11227675 | 11238683 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000601 |
| Deletion | c.(1845+1_1846-1)_(*2514_?)del | LDLR | Pathogenic | 19 | 11227675 | 11244506 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_000430 |
| Deletion | c.(1987+1_1988-1)_(2311+1_2312-1)del | LDLR | Pathogenic | 19 | 11230910 | 11238683 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000613 |
| Deletion | FH Tonami 1 | LDLR | Pathogenic | 19 | 11231199 | 11238683 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001294,OMIM:606945.0038 |
| Deletion | c.(2140+1_2141-1)_(*2514_?)del | LDLR | Pathogenic | 19 | 11231199 | 11244506 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001293 |
| Deletion | FH Tsukuba 2 | LDLR | Pathogenic | 19 | 11234021 | 11241956 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001295,OMIM:606945.0039 |
| Deletion | c.(2311+1_2312-1)_(2389+1_2390-1)del | LDLR | Likely pathogenic | 19 | 11234021 | 11240188 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000293 |
| Duplication | c.(2311+1_2312-1)_(2547+1_2548-1)dup | LDLR | Pathogenic | 19 | 11234021 | 11241956 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_001296 |
| Deletion | c.(2311+1_2312-1)_(*220_?)del | LDLR | Pathogenic | 19 | 11234021 | 11242212 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000295 |
Copyright © Japan Institute for Health Security. All rights reserved.