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.(1845+1_1846-1)_(2140+1_2141-1)dup	LDLR	Pathogenic	19	11227675	11233849	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001281
Deletion	c.(1845+1_1846-1)_(2311+1_2312-1)del	LDLR	Pathogenic	19	11227675	11238683	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000601
Deletion	c.(1845+1_1846-1)_(*2514_?)del	LDLR	Pathogenic	19	11227675	11244506	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000430
Deletion	c.(1987+1_1988-1)_(2311+1_2312-1)del	LDLR	Pathogenic	19	11230910	11238683	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000613
Deletion	FH Tonami 1	LDLR	Pathogenic	19	11231199	11238683	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001294,OMIM:606945.0038
Deletion	c.(2140+1_2141-1)_(*2514_?)del	LDLR	Pathogenic	19	11231199	11244506	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001293
Deletion	FH Tsukuba 2	LDLR	Pathogenic	19	11234021	11241956	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001295,OMIM:606945.0039
Deletion	c.(2311+1_2312-1)_(2389+1_2390-1)del	LDLR	Likely pathogenic	19	11234021	11240188	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000293
Duplication	c.(2311+1_2312-1)_(2547+1_2548-1)dup	LDLR	Pathogenic	19	11234021	11241956	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001296
Deletion	c.(2311+1_2312-1)_(*220_?)del	LDLR	Pathogenic	19	11234021	11242212	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000295