Knowledge base for genomic medicine in Japanese
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家族性高コレステロール血症
Excelでダウンロード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.(67+1_68-1)_(1705+1_1706-1)del | LDLR | Pathogenic | 19 | 11200292 | 11227534 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001303 |
| Deletion | NM_000527.5:c.(67+1_68-1)_(1845+1_1846-1)del | LDLR | Pathogenic | 19 | 11200292 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001304,LOVD 3:LDLR_001304,OMIM:606945.0046 |
| Deletion | c.(67+1_68-1)_(2140+1_2141-1)del | LDLR | Pathogenic | 19 | 11200292 | 11233849 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001305 |
| Duplication | c.(67+1_68-1)_(2311+1_2312-1)dup | LDLR | Likely pathogenic | 19 | 11200292 | 11238683 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001306 |
| Deletion | c.(67+1_68-1)_(2547+1_2548-1)del | LDLR | Pathogenic | 19 | 11200292 | 11241956 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001307 |
| Deletion | c.(190+1_191-1)_(313+1_314-1)del | LDLR | Pathogenic | 19 | 11211022 | 11215895 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001092 |
| Deletion | c.(190+1_191-1)_(694+1_695-1)del | LDLR | Pathogenic | 19 | 11211022 | 11217240 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001290 |
| Deletion | c.(190+1_191-1)_(817+1_818-1)del | LDLR | Pathogenic | 19 | 11211022 | 11218067 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000958 |
| Duplication | NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup | LDLR | Likely pathogenic | 19 | 11211022 | 11218067 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001291,OMIM:606945.0024 |
| Deletion | c.(190+1_191-1)_(940+1_941-1)del | LDLR | Pathogenic | 19 | 11211022 | 11221327 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001292 |
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