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	NM_000384.3(APOB):c.671del (p.Pro224fs)	APOB	Pathogenic	2	21259994	21259994	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.41T>A (p.Leu14Ter)	LDLR	Pathogenic	19	11200265	11200265	T	A	criteria provided, single submitter	-
Indel	NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)	LDLR	Pathogenic	19	11213398	11213398	T	GG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000527.5(LDLR):c.832G>T (p.Gly278Ter)	LDLR	Pathogenic	19	11218082	11218082	G	T	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.1023del (p.Asp342fs)	LDLR	Pathogenic	19	11221407	11221407	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.1092C>A (p.Cys364Ter)	LDLR	Pathogenic	19	11222221	11222221	C	A	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.1382del (p.Gly461fs)	LDLR	Pathogenic	19	11224233	11224233	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000527.5(LDLR):c.1408A>T (p.Ser470Cys)	LDLR	Likely pathogenic	19	11224260	11224260	A	T	criteria provided, single submitter	-
Duplication	NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs)	LDLR	Pathogenic	19	11224309	11224310	G	GCAACATCTACTGGA	criteria provided, single submitter	-
Duplication	NM_000527.5(LDLR):c.1647dup (p.Val550fs)	LDLR	Pathogenic	19	11226829	11226830	G	GT	criteria provided, single submitter	-