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(chr19:11102663-11107515)x1	LDLR	Pathogenic	19	11213339	11218191	na	na	criteria provided, single submitter	-
copy number loss	GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1	LDLR	Pathogenic	19	11210898	11213463	na	na	criteria provided, single submitter	-
copy number gain	GRCh37/hg19 19p13.2(chr19:11210898-11218191)x3	LDLR	Likely pathogenic	19	11210898	11218191	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000384.3(APOB):c.11789-1G>C	APOB	Likely pathogenic	2	21227548	21227548	C	G	criteria provided, single submitter	-
Deletion	NM_000384.3(APOB):c.6543del (p.Phe2181fs)	APOB	Pathogenic/Likely pathogenic	2	21233197	21233197	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter)	APOB	Pathogenic	2	21235237	21235237	A	C	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11120072)_(11120608_?)del	LDLR	Pathogenic	19	11230748	11231284	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11123154)_(11131359_?)del	LDLR	Pathogenic	19	11233830	11242035	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11127988)_(11128105_?)del	LDLR	Pathogenic	19	11238664	11238781	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.974G>T (p.Cys325Phe)	LDLR	Likely pathogenic	19	11221361	11221361	G	T	criteria provided, multiple submitters, no conflicts	-