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
Duplication	NM_000527.5(LDLR):c.1428dup (p.Asp477fs)	LDLR	Pathogenic	19	11224280	11224280	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577093,LDLR-LOVD, British Heart Foundation:LDLR_000547
Deletion	NM_000384.3(APOB):c.9523del (p.Ala3175fs)	APOB	Pathogenic	2	21230217	21230217	GC	G	criteria provided, single submitter	ClinGen:CA10581913
single nucleotide variant	NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)	LDLR	Pathogenic	19	11200236	11200236	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA085131,LDLR-LOVD, British Heart Foundation:LDLR_000357
single nucleotide variant	NM_000527.5(LDLR):c.166T>C (p.Ser56Pro)	LDLR	Pathogenic/Likely pathogenic	19	11210997	11210997	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583772,LDLR-LOVD, British Heart Foundation:LDLR_000633,UniProtKB:P01130#VAR_007980
Deletion	NM_000527.5(LDLR):c.379del (p.Val127fs)	LDLR	Pathogenic	19	11215961	11215961	CG	C	criteria provided, single submitter	ClinGen:CA10583774
single nucleotide variant	NM_000527.5(LDLR):c.1706-2A>T	LDLR	Pathogenic	19	11227533	11227533	A	T	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001500,ClinGen:CA10583778
Deletion	NM_000527.4(LDLR):c.-1823_190+566del	LDLR	Pathogenic	19	11198402	11211587	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000005
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.-149C>A	LDLR	Likely pathogenic	19	11200076	11200076	C	A	reviewed by expert panel	ClinGen:CA10584700,LDLR-LOVD, British Heart Foundation:LDLR_001264
single nucleotide variant	NM_000527.4(LDLR):c.-136C>T	LDLR	Pathogenic/Likely pathogenic	19	11200089	11200089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584709,LDLR-LOVD, British Heart Foundation:LDLR_001261