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.1027G>A (p.Gly343Ser)	LDLR	Pathogenic	19	11221414	11221414	G	A	reviewed by expert panel	ClinGen:CA023406,LDLR-LOVD, British Heart Foundation:LDLR_001328,UniProtKB:P01130#VAR_005367
single nucleotide variant	NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	LDLR	Likely pathogenic	19	11222262	11222262	A	C	reviewed by expert panel	ClinGen:CA023422,LDLR-LOVD, British Heart Foundation:LDLR_000162
single nucleotide variant	NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)	LDLR	Pathogenic/Likely pathogenic	19	11224013	11224013	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023441,LDLR-LOVD, British Heart Foundation:LDLR_000180,UniProtKB:P01130#VAR_005381
single nucleotide variant	NM_000527.5(LDLR):c.1747C>G (p.His583Asp)	LDLR	Likely pathogenic	19	11227576	11227576	C	G	criteria provided, single submitter	ClinGen:CA023564,LDLR-LOVD, British Heart Foundation:LDLR_001515
single nucleotide variant	NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)	LDLR	Pathogenic	19	11227613	11227613	G	A	reviewed by expert panel	ClinGen:CA023585,LDLR-LOVD, British Heart Foundation:LDLR_000563
single nucleotide variant	NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	LDLR	Likely pathogenic	19	11230873	11230873	G	A	reviewed by expert panel	ClinGen:CA354422,LDLR-LOVD, British Heart Foundation:LDLR_000851
single nucleotide variant	NM_000527.5(LDLR):c.313+2T>C	LDLR	Pathogenic	19	11213464	11213464	T	C	reviewed by expert panel	ClinGen:CA023690,LDLR-LOVD, British Heart Foundation:LDLR_001696
single nucleotide variant	NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)	LDLR	Pathogenic	19	11218078	11218078	C	A	reviewed by expert panel	ClinGen:CA023773,LDLR-LOVD, British Heart Foundation:LDLR_000506
single nucleotide variant	NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216083	11216083	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023707,LDLR-LOVD, British Heart Foundation:LDLR_001747
single nucleotide variant	NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216172	11216172	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023730,LDLR-LOVD, British Heart Foundation:LDLR_000081,UniProtKB:P01130#VAR_005329