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)_(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	NM_000527.4(LDLR):c.-187_67+?del	LDLR	Pathogenic	19	11200038	11200291	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(chr19:11089362-11107515)x1	LDLR	Pathogenic	19	11200038	11218191	na	na	criteria provided, single submitter	-
Deletion	NR_163945.1(LDLR-AS1):n.295_297del	LDLR	Likely pathogenic	19	11200039	11200041	CTCT	C	criteria provided, single submitter	ClinGen:CA10584695,LDLR-LOVD, British Heart Foundation:LDLR_000103
single nucleotide variant	NM_000527.4(LDLR):c.-168A>G	LDLR	Likely pathogenic	19	11200057	11200057	A	G	criteria provided, single submitter	ClinGen:CA16602286
Deletion	NM_000527.4(LDLR):c.-155_-150del	LDLR	Likely pathogenic	19	11200070	11200075	CACCCCA	C	criteria provided, single submitter	ClinGen:CA16602287