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.458T>G (p.Phe153Cys)	LDLR	Likely pathogenic	19	11216040	11216040	T	G	criteria provided, single submitter	ClinGen:CA10584929,LDLR-LOVD, British Heart Foundation:LDLR_001738
single nucleotide variant	NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216042	11216042	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584930,LDLR-LOVD, British Heart Foundation:LDLR_000060
single nucleotide variant	NM_000527.5(LDLR):c.463T>C (p.Cys155Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216045	11216045	T	C	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000937,ClinGen:CA10584931
single nucleotide variant	NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216045	11216045	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584932,LDLR-LOVD, British Heart Foundation:LDLR_001739,UniProtKB:P01130#VAR_005319
single nucleotide variant	NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216046	11216046	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584933,LDLR-LOVD, British Heart Foundation:LDLR_001740,UniProtKB:P01130#VAR_072830
single nucleotide variant	NM_000527.5(LDLR):c.464G>T (p.Cys155Phe)	LDLR	Likely pathogenic	19	11216046	11216046	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584934,LDLR-LOVD, British Heart Foundation:LDLR_000061
single nucleotide variant	NM_000527.5(LDLR):c.465C>A (p.Cys155Ter)	LDLR	Pathogenic	19	11216047	11216047	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA043661,LDLR-LOVD, British Heart Foundation:LDLR_000416
Duplication	NM_000527.5(LDLR):c.466_484dup (p.Pro162fs)	LDLR	Pathogenic	19	11216048	11216066	G	GCAACAGCTCCACCTGCATC	criteria provided, single submitter	ClinGen:CA10584935,LDLR-LOVD, British Heart Foundation:LDLR_001741
Deletion	NM_000527.5(LDLR):c.472del (p.Ser158fs)	LDLR	Pathogenic	19	11216054	11216054	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584936,LDLR-LOVD, British Heart Foundation:LDLR_000987
single nucleotide variant	NM_000527.5(LDLR):c.473C>G (p.Ser158Cys)	LDLR	Likely pathogenic	19	11216055	11216055	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584937,LDLR-LOVD, British Heart Foundation:LDLR_000062