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.68-2A>T	LDLR	Pathogenic/Likely pathogenic	19	11210897	11210897	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584741,LDLR-LOVD, British Heart Foundation:LDLR_001811
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
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.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
single nucleotide variant	NM_000527.5(LDLR):c.85A>T (p.Arg29Ter)	LDLR	Pathogenic	19	11210916	11210916	A	T	criteria provided, single submitter	ClinGen:CA10584747,LDLR-LOVD, British Heart Foundation:LDLR_001105
single nucleotide variant	NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)	LDLR	Pathogenic	19	11210922	11210922	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584748,LDLR-LOVD, British Heart Foundation:LDLR_001866
Deletion	NM_000527.5(LDLR):c.93_99del (p.Glu31fs)	LDLR	Pathogenic	19	11210924	11210930	AGTTCCAG	A	criteria provided, single submitter	ClinGen:CA10584749,LDLR-LOVD, British Heart Foundation:LDLR_001868
single nucleotide variant	NM_000527.5(LDLR):c.95T>G (p.Phe32Cys)	LDLR	Likely pathogenic	19	11210926	11210926	T	G	criteria provided, single submitter	ClinGen:CA10584750,LDLR-LOVD, British Heart Foundation:LDLR_000462