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.1285G>A (p.Val429Met)	LDLR	Pathogenic/Likely pathogenic	19	11224052	11224052	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023443,LDLR-LOVD, British Heart Foundation:LDLR_001387,UniProtKB:P01130#VAR_005383,OMIM:606945.0009
single nucleotide variant	NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	LDLR	Pathogenic	19	11224058	11224058	G	A	reviewed by expert panel	ClinGen:CA023445,LDLR-LOVD, British Heart Foundation:LDLR_000184,UniProtKB:P01130#VAR_005384,OMIM:606945.0010
single nucleotide variant	NM_000527.5(LDLR):c.1567G>A (p.Val523Met)	LDLR	Pathogenic/Likely pathogenic	19	11224419	11224419	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023525,LDLR-LOVD, British Heart Foundation:LDLR_000075,UniProtKB:P01130#VAR_005395,OMIM:606945.0011
single nucleotide variant	NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)	LDLR	Pathogenic/Likely pathogenic	19	11226820	11226820	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023543,LDLR-LOVD, British Heart Foundation:LDLR_001479,UniProtKB:P01130#VAR_005397,OMIM:606945.0012
single nucleotide variant	NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	LDLR	Pathogenic/Likely pathogenic	19	11226829	11226829	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023546,LDLR-LOVD, British Heart Foundation:LDLR_000222,UniProtKB:P01130#VAR_005398,OMIM:606945.0013
single nucleotide variant	NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	LDLR	Pathogenic/Likely pathogenic	19	11231101	11231101	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023623,LDLR-LOVD, British Heart Foundation:LDLR_001592,OMIM:606945.0016
Deletion	FH Cape Town 2	LDLR	Pathogenic/Likely pathogenic	19	11218191	11223953	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000137,dbVar:nssv7487234,OMIM:606945.0028
single nucleotide variant	NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	LDLR	Pathogenic/Likely pathogenic	19	11231112	11231112	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023628,LDLR-LOVD, British Heart Foundation:LDLR_000276,UniProtKB:P01130#VAR_005410,OMIM:606945.0017
single nucleotide variant	NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter)	LDLR	Pathogenic	19	11240238	11240238	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023668,LDLR-LOVD, British Heart Foundation:LDLR_001649,OMIM:606945.0018
single nucleotide variant	NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)	LDLR	Pathogenic/Likely pathogenic	19	11240282	11240282	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023679,LDLR-LOVD, British Heart Foundation:LDLR_000307,UniProtKB:P01130#VAR_005419,OMIM:606945.0019