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
Deletion	c.(?_-187)_(1186+1_1187-1)del	LDLR	Pathogenic	19	11200038	11223953	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001091
Deletion	c.(?_-187)_(1845+1_1846-1)del	LDLR	Pathogenic	19	11200038	11230767	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001167
Deletion	c.(?_-187)_(2140+1_2141-1)del	LDLR	Pathogenic	19	11200038	11233849	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000009
Deletion	c.(?_-187)_(2311+1_2312-1)del	LDLR	Pathogenic	19	11200038	11238683	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001272
Deletion	c.(?_-187)_*2584del	LDLR	Pathogenic	19	11200038	11244576	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000010
Deletion	c.(67+1_68-1)_(190+1_191-1)del	LDLR	Pathogenic	19	11200292	11213339	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000951
Deletion	c.(67+1_68-1)_(694+1_695-1)del	LDLR	Pathogenic	19	11200292	11217240	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001308
Deletion	c.(67+1_68-1)_(817+1_818-1)del	LDLR	Pathogenic	19	11200292	11218067	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000426
Duplication	c.(67+1_68-1)_(817+1_818-1)dup	LDLR	Likely pathogenic	19	11200292	11218067	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001309
Deletion	c.(67+1_68-1)_(1586+1_1587-1)del	LDLR	Pathogenic	19	11200292	11226769	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001302