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_000527.5(LDLR):c.1070del (p.Glu357fs)	LDLR	Pathogenic	19	11222199	11222199	GA	G	criteria provided, single submitter	ClinGen:CA645509276,LOVD 3:LDLR_001909
Duplication	NM_000384.3(APOB):c.2786dup (p.Arg931fs)	APOB	Pathogenic	2	21245732	21245733	T	TG	criteria provided, single submitter	ClinGen:CA645509053
single nucleotide variant	NM_000527.5(LDLR):c.3G>A (p.Met1Ile)	LDLR	Likely pathogenic	19	11200227	11200227	G	A	reviewed by expert panel	ClinGen:CA404071097
single nucleotide variant	NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)	LDLR	Likely pathogenic	19	11210910	11210910	T	C	criteria provided, single submitter	ClinGen:CA404074603
single nucleotide variant	NM_000527.5(LDLR):c.132G>A (p.Trp44Ter)	LDLR	Pathogenic	19	11210963	11210963	G	A	criteria provided, single submitter	ClinGen:CA404074816
single nucleotide variant	NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)	LDLR	Pathogenic/Likely pathogenic	19	11211003	11211003	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404075029
single nucleotide variant	NM_000527.5(LDLR):c.191-1G>T	LDLR	Pathogenic	19	11213339	11213339	G	T	criteria provided, single submitter	ClinGen:CA404075500
single nucleotide variant	NM_000527.5(LDLR):c.269A>C (p.Asp90Ala)	LDLR	Likely pathogenic	19	11213418	11213418	A	C	reviewed by expert panel	ClinGen:CA404075695
Deletion	NM_000527.5(LDLR):c.313+4_313+16del	LDLR	Likely pathogenic	19	11213466	11213478	AAGTGTGGCCCTGC	A	criteria provided, single submitter	ClinGen:CA645509256
Duplication	NM_000527.5(LDLR):c.337dup (p.Glu113fs)	LDLR	Pathogenic	19	11215918	11215919	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA9204948