家族性高コレステロール血症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
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