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
single nucleotide variant	NM_000527.5(LDLR):c.68-1G>C	LDLR	Pathogenic	19	11210898	11210898	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584742,LDLR-LOVD, British Heart Foundation:LDLR_001810
Duplication	c.(?_-187)_(67+1_68-1)dup	LDLR	Likely pathogenic	19	11200038	11210898	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001273
Deletion	c.(?_-187)_(67+1_68-1)del	LDLR	Pathogenic	19	11200038	11210898	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000007
single nucleotide variant	NM_000527.5(LDLR):c.68-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11210898	11210898	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654839
single nucleotide variant	NM_000527.5(LDLR):c.76A>T (p.Arg26Ter)	LDLR	Pathogenic	19	11210907	11210907	A	T	criteria provided, single submitter	ClinGen:CA10584743,LDLR-LOVD, British Heart Foundation:LDLR_001028
Deletion	NM_000527.5(LDLR):c.76del (p.Arg26fs)	LDLR	Pathogenic	19	11210907	11210907	CA	C	criteria provided, single submitter	ClinGen:CA10584744,LDLR-LOVD, British Heart Foundation:LDLR_000895
Deletion	NM_000527.5(LDLR):c.77_78del (p.Arg26fs)	LDLR	Pathogenic	19	11210908	11210909	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584745,LDLR-LOVD, British Heart Foundation:LDLR_000677
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.81C>G (p.Cys27Trp)	LDLR	Pathogenic	19	11210912	11210912	C	G	reviewed by expert panel	ClinGen:CA041664,LDLR-LOVD, British Heart Foundation:LDLR_000352,UniProtKB:P01130#VAR_005304
single nucleotide variant	NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)	LDLR	Pathogenic	19	11210912	11210912	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584746,LDLR-LOVD, British Heart Foundation:LDLR_001122