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	NC_000002.12:g.(?_21001710)_(21035728_?)del	APOB	Pathogenic	2	21224582	21258600	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter)	APOB	Pathogenic	2	21232135	21232135	G	T	criteria provided, single submitter	ClinGen:CA345996793
Deletion	NC_000019.10:g.(?_11111494)_(11113782_?)del	LDLR	Pathogenic	19	11222170	11224458	na	na	criteria provided, single submitter	-
Duplication	NC_000019.9:g.(?_11238684)_(11248011_?)dup	LDLR	Likely pathogenic	19	11238684	11248011	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11105200)_(11107534_?)del	LDLR	Pathogenic	19	11215876	11218210	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.274C>T (p.Gln92Ter)	LDLR	Pathogenic	19	11213423	11213423	C	T	criteria provided, single submitter	ClinGen:CA404075706
Deletion	NC_000019.10:g.(?_11089529)_(11100365_?)del	LDLR	Pathogenic	19	11200205	11211041	na	na	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.1693_1696del (p.Gly565fs)	LDLR	Pathogenic	19	11226876	11226879	TGGCA	T	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1	LDLR	Pathogenic	19	11226769	11227675	na	na	criteria provided, single submitter	-
copy number gain	GRCh38/hg38 19p13.2(chr19:11110650-11110651)x3	LDLR	Likely pathogenic	19	11221327	11221448	na	na	criteria provided, single submitter	-