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
copy number loss	GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1	LDLR	Pathogenic	19	11230767	11234021	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1	LDLR	Pathogenic	19	11230767	11231199	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1	LDLR	Pathogenic	19	11217240	11218191	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1	LDLR	Pathogenic	19	11210898	11218191	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1	LDLR	Pathogenic	19	11200038	11211022	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1	LDLR	Pathogenic	19	11200038	11200292	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1	LDLR	Pathogenic	19	11240188	11244506	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11089362-11107515)x1	LDLR	Pathogenic	19	11200038	11218191	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1	LDLR	Pathogenic	19	11238683	11244506	na	na	criteria provided, single submitter	-
copy number gain	GRCh38/hg38 19p13.2(chr19:11116092-11116093)x3	LDLR	Likely pathogenic	19	11226769	11227675	na	na	criteria provided, single submitter	-