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.(190+1_191-1)_(940+1_941-1)dup | LDLR | Likely pathogenic | 19 | 11211022 | 11221327 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000030 |
| Deletion | c.(190+1_191-1)_(1060+1_1061-1)del | LDLR | Pathogenic | 19 | 11211022 | 11222189 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000033 |
| Duplication | c.(190+1_191-1)_(1186+1_1187-1)dup | LDLR | Likely pathogenic | 19 | 11211022 | 11223953 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000427 |
| Deletion | c.(190+1_191-1)_(1586+1_1587-1)del | LDLR | Pathogenic | 19 | 11211022 | 11226769 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001289 |
| Deletion | c.(190+1_191-1)_(1845+1_1846-1)del | LDLR | Pathogenic | 19 | 11211022 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000032 |
| Duplication | c.(190+1_191-1)_(1845+1_1846-1)dup | LDLR | Pathogenic | 19 | 11211022 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001297 |
| Duplication | c.(190+1_191-1)_(2140+1_2141-1)dup | LDLR | Likely pathogenic | 19 | 11211022 | 11233849 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000434 |
| Deletion | c.(313+1_314-1)_(694+1_695-1)del | LDLR | Pathogenic | 19 | 11213463 | 11217240 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001008 |
| Duplication | c.(313+1_314-1)_(817+1_818-1)dup | LDLR | Likely pathogenic | 19 | 11213463 | 11218067 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000777 |
| Duplication | c.(313+1_314-1)_(940+1_941-1)dup | LDLR | Likely pathogenic | 19 | 11213463 | 11221327 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001300 |
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