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.947A>C (p.Asn316Thr)	LDLR	Likely pathogenic	19	11221334	11221334	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585222,LDLR-LOVD, British Heart Foundation:LDLR_001217
single nucleotide variant	NM_000527.5(LDLR):c.949G>T (p.Glu317Ter)	LDLR	Pathogenic	19	11221336	11221336	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585223,LDLR-LOVD, British Heart Foundation:LDLR_000860
Deletion	NM_000527.5(LDLR):c.951del (p.Glu317fs)	LDLR	Pathogenic	19	11221337	11221337	GA	G	criteria provided, single submitter	ClinGen:CA10585224,LDLR-LOVD, British Heart Foundation:LDLR_001882
single nucleotide variant	NM_000527.5(LDLR):c.952T>C (p.Cys318Arg)	LDLR	Pathogenic/Likely pathogenic	19	11221339	11221339	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585225,LDLR-LOVD, British Heart Foundation:LDLR_001883,UniProtKB:P01130#VAR_062376
single nucleotide variant	NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr)	LDLR	Likely pathogenic	19	11221340	11221340	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585226,LDLR-LOVD, British Heart Foundation:LDLR_001884,UniProtKB:P01130#VAR_005359
single nucleotide variant	NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)	LDLR	Pathogenic/Likely pathogenic	19	11221340	11221340	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585227,LDLR-LOVD, British Heart Foundation:LDLR_001885,UniProtKB:P01130#VAR_005360
Deletion	NM_000527.5(LDLR):c.961_962del (p.Asn321fs)	LDLR	Pathogenic	19	11221348	11221349	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585228,LDLR-LOVD, British Heart Foundation:LDLR_001886
single nucleotide variant	NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)	LDLR	Pathogenic/Likely pathogenic	19	11221352	11221352	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585230,LDLR-LOVD, British Heart Foundation:LDLR_001888
Deletion	NM_000527.5(LDLR):c.968del (p.Gly323fs)	LDLR	Pathogenic	19	11221354	11221354	CG	C	criteria provided, single submitter	ClinGen:CA10585231,LDLR-LOVD, British Heart Foundation:LDLR_001889
Deletion	NM_000527.5(LDLR):c.969del (p.Gly324fs)	LDLR	Pathogenic	19	11221356	11221356	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585232,LDLR-LOVD, British Heart Foundation:LDLR_001891