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.1297G>C (p.Asp433His)	LDLR	Pathogenic/Likely pathogenic	19	11224064	11224064	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023450,LDLR-LOVD, British Heart Foundation:LDLR_001390,UniProtKB:P01130#VAR_005385,OMIM:606945.0050
Duplication	NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)	LDLR	Pathogenic/Likely pathogenic	19	11216246	11216263	C	CGACTGCAAGGACAAATCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA250482,LDLR-LOVD, British Heart Foundation:LDLR_000097,OMIM:606945.0051
single nucleotide variant	NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)	LDLR	Likely pathogenic	19	11240330	11240330	G	A	reviewed by expert panel	ClinGen:CA023681,LDLR-LOVD, British Heart Foundation:LDLR_001663,UniProtKB:P01130#VAR_005420,OMIM:606945.0052
single nucleotide variant	NM_000527.4(LDLR):c.313+1G>A	LDLR	Pathogenic	19	11213463	11213463	G	A	reviewed by expert panel	ClinGen:CA023688,LDLR-LOVD, British Heart Foundation:LDLR_000045,OMIM:606945.0054
single nucleotide variant	NM_000527.4(LDLR):c.694+2T>C	LDLR	Pathogenic/Likely pathogenic	19	11216278	11216278	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023753,LDLR-LOVD, British Heart Foundation:LDLR_000500,OMIM:606945.0056
single nucleotide variant	NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	LDLR	Pathogenic	19	11216133	11216133	G	A	reviewed by expert panel	ClinGen:CA023721,LDLR-LOVD, British Heart Foundation:LDLR_000078,UniProtKB:P01130#VAR_013951,OMIM:606945.0058
single nucleotide variant	NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)	LDLR	Pathogenic/Likely pathogenic	19	11217328	11217328	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023761,LDLR-LOVD, British Heart Foundation:LDLR_000647,UniProtKB:P01130#VAR_013953,OMIM:606945.0059
single nucleotide variant	NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	LDLR	Pathogenic/Likely pathogenic	19	11210962	11210962	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023452,LDLR-LOVD, British Heart Foundation:LDLR_000019,OMIM:606945.0060
single nucleotide variant	NM_000527.5(LDLR):c.137G>C (p.Cys46Ser)	LDLR	Likely pathogenic	19	11210968	11210968	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023468,LDLR-LOVD, British Heart Foundation:LDLR_000449,UniProtKB:P01130#VAR_013949,OMIM:606945.0061
single nucleotide variant	NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)	LDLR	Likely pathogenic	19	11215908	11215908	G	C	criteria provided, single submitter	ClinGen:CA023694,LDLR-LOVD, British Heart Foundation:LDLR_001179,OMIM:606945.0062