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.(1186+1_1187-1)_(1358+1_1359-1)dup | LDLR | Pathogenic | 19 | 11222316 | 11224210 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001093 |
| Deletion | FH Reykjavik | LDLR | Pathogenic | 19 | 11222316 | 11226769 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_001277,OMIM:606945.0037 |
| Duplication | c.(1186+1_1187-1)_(1586+1_1587-1)dup | LDLR | Pathogenic | 19 | 11222316 | 11226769 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001170 |
| Deletion | c.(1186+1_1187-1)_(1845+1_1846-1)del | LDLR | Pathogenic | 19 | 11222316 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000167 |
| Duplication | c.(1186+1_1187-1)_(1845+1_1846-1)dup | LDLR | Pathogenic | 19 | 11222316 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001278 |
| Deletion | c.(1186+1_1187-1)_(2140+1_2141-1)del | LDLR | Pathogenic | 19 | 11222316 | 11233849 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001177 |
| Deletion | c.(1186+1_1187-1)_(*2514_?)del | LDLR | Pathogenic | 19 | 11222316 | 11244506 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001276 |
| Deletion | c.(1586+1_1587-1)_(1705+1_1706-1)del | LDLR | Pathogenic | 19 | 11224439 | 11227534 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000215 |
| Deletion | c.(1586+1_1587-1)_(1845+1_1846-1)del | LDLR | Pathogenic | 19 | 11224439 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000216 |
| Deletion | c.(1586+1_1587-1)_(2140+1_2141-1)del | LDLR | Pathogenic | 19 | 11224439 | 11233849 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001280 |
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