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) | ||||||||||
| Deletion | c.(?_-187)_(1186+1_1187-1)del | LDLR | Pathogenic | 19 | 11200038 | 11223953 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001091 |
| Deletion | c.(?_-187)_(1845+1_1846-1)del | LDLR | Pathogenic | 19 | 11200038 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001167 |
| Deletion | c.(?_-187)_(2140+1_2141-1)del | LDLR | Pathogenic | 19 | 11200038 | 11233849 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000009 |
| Deletion | c.(?_-187)_(2311+1_2312-1)del | LDLR | Pathogenic | 19 | 11200038 | 11238683 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001272 |
| Deletion | c.(?_-187)_*2584del | LDLR | Pathogenic | 19 | 11200038 | 11244576 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_000010 |
| Deletion | c.(67+1_68-1)_(190+1_191-1)del | LDLR | Pathogenic | 19 | 11200292 | 11213339 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000951 |
| Deletion | c.(67+1_68-1)_(694+1_695-1)del | LDLR | Pathogenic | 19 | 11200292 | 11217240 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001308 |
| Deletion | c.(67+1_68-1)_(817+1_818-1)del | LDLR | Pathogenic | 19 | 11200292 | 11218067 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000426 |
| Duplication | c.(67+1_68-1)_(817+1_818-1)dup | LDLR | Likely pathogenic | 19 | 11200292 | 11218067 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001309 |
| Deletion | c.(67+1_68-1)_(1586+1_1587-1)del | LDLR | Pathogenic | 19 | 11200292 | 11226769 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001302 |
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