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) | ||||||||||
| Duplication | c.(940+1_941-1)_(1586+1_1587-1)dup | LDLR | Pathogenic | 19 | 11218191 | 11226769 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001171 |
| Deletion | c.(940+1_941-1)_(1845+1_1846-1)del | LDLR | Pathogenic | 19 | 11218191 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000143 |
| Duplication | c.(940+1_941-1)_(1845+1_1846-1)dup | LDLR | Pathogenic | 19 | 11218191 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000325 |
| Deletion | c.(940+1_941-1)_(2140+1_2141-1)del | LDLR | Pathogenic | 19 | 11218191 | 11233849 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_001316 |
| Deletion | c.(940+1_941-1)_(2311+1_2312-1)del | LDLR | Pathogenic | 19 | 11218191 | 11238683 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001317 |
| Duplication | c.(940+1_941-1)_(*2514_?)dup | LDLR | Pathogenic | 19 | 11218191 | 11244506 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000670 |
| Deletion | c.(1060+1_1061-1)_(1186+1_1187-1)del | LDLR | Pathogenic/Likely pathogenic | 19 | 11221448 | 11223953 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_001097 |
| Duplication | c.(1060+1_1061-1)_(1586+1_1587-1)dup | LDLR | Pathogenic | 19 | 11221448 | 11226769 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001275 |
| Deletion | c.(1060+1_1061-1)_(1845+1_1846-1)del | LDLR | Pathogenic | 19 | 11221448 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000324 |
| Deletion | c.(1186+1_1187-1)_(1358+1_1359-1)del | LDLR | Pathogenic | 19 | 11222316 | 11224210 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001098 |
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