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.1222G>A (p.Glu408Lys)	LDLR	Likely pathogenic	19	11223989	11223989	G	A	reviewed by expert panel	ClinGen:CA023437,LDLR-LOVD, British Heart Foundation:LDLR_001379,UniProtKB:P01130#VAR_005378
single nucleotide variant	NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)	LDLR	Likely pathogenic	19	11224058	11224058	G	C	reviewed by expert panel	ClinGen:CA023446
single nucleotide variant	NM_000527.5(LDLR):c.1358+2T>A	LDLR	Pathogenic/Likely pathogenic	19	11224127	11224127	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023460,LDLR-LOVD, British Heart Foundation:LDLR_000544
single nucleotide variant	NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)	LDLR	Pathogenic/Likely pathogenic	19	11230900	11230900	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023618
single nucleotide variant	NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)	LDLR	Likely pathogenic	19	11215944	11215944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023699,LDLR-LOVD, British Heart Foundation:LDLR_001712
Deletion	NM_000527.5(LDLR):c.653del (p.Gly218fs)	LDLR	Pathogenic/Likely pathogenic	19	11216234	11216234	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023735,LDLR-LOVD, British Heart Foundation:LDLR_001788
Duplication	NM_000527.5(LDLR):c.2061dup (p.Asn688fs)	LDLR	Pathogenic	19	11231119	11231119	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA038385,LDLR-LOVD, British Heart Foundation:LDLR_001158
single nucleotide variant	NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter)	APOB	Pathogenic	2	21232203	21232203	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)	LDLR	Pathogenic	19	11213445	11213445	C	G	reviewed by expert panel	ClinGen:CA023685,LDLR-LOVD, British Heart Foundation:LDLR_001685
single nucleotide variant	NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	LDLR	Pathogenic	19	11213450	11213450	G	A	reviewed by expert panel	UniProtKB:P01130#VAR_005315,ClinGen:CA023687,LDLR-LOVD, British Heart Foundation:LDLR_000044