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.1186+1G>T	LDLR	Pathogenic	19	11222316	11222316	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023428
single nucleotide variant	NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)	LDLR	Pathogenic/Likely pathogenic	19	11224320	11224320	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023507,LDLR-LOVD, British Heart Foundation:LDLR_001439
single nucleotide variant	NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	LDLR	Likely pathogenic	19	11213390	11213390	C	T	reviewed by expert panel	ClinGen:CA023666,LDLR-LOVD, British Heart Foundation:LDLR_001647
single nucleotide variant	NM_000527.5(LDLR):c.392A>G (p.Asp131Gly)	LDLR	Pathogenic	19	11215974	11215974	A	G	criteria provided, single submitter	ClinGen:CA023701
single nucleotide variant	NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	LDLR	Pathogenic/Likely pathogenic	19	11216084	11216084	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023709,LDLR-LOVD, British Heart Foundation:LDLR_001749,UniProtKB:P01130#VAR_005322
single nucleotide variant	NM_000527.5(LDLR):c.589T>C (p.Cys197Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216171	11216171	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023725,LDLR-LOVD, British Heart Foundation:LDLR_000400,UniProtKB:P01130#VAR_005330
single nucleotide variant	NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	LDLR	Pathogenic	19	11216244	11216244	A	G	reviewed by expert panel	ClinGen:CA023739,LDLR-LOVD, British Heart Foundation:LDLR_000096,UniProtKB:P01130#VAR_005332
single nucleotide variant	NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216247	11216247	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023742,LDLR-LOVD, British Heart Foundation:LDLR_001795,UniProtKB:P01130#VAR_062373
single nucleotide variant	NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	LDLR	Likely pathogenic	19	11218096	11218096	C	A	reviewed by expert panel	ClinGen:CA023778,LDLR-LOVD, British Heart Foundation:LDLR_001846
single nucleotide variant	NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	LDLR	Likely pathogenic	19	11221390	11221390	G	A	reviewed by expert panel	ClinGen:CA023402,LDLR-LOVD, British Heart Foundation:LDLR_001318,UniProtKB:P01130#VAR_005363