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.126C>A (p.Tyr42Ter)	LDLR	Pathogenic	19	11210957	11210957	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584762,LDLR-LOVD, British Heart Foundation:LDLR_001385
Duplication	NM_000527.5(LDLR):c.132_133dup (p.Val45fs)	LDLR	Pathogenic	19	11210961	11210962	T	TGG	criteria provided, single submitter	ClinGen:CA10584763,LDLR-LOVD, British Heart Foundation:LDLR_001391
single nucleotide variant	NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)	LDLR	Pathogenic/Likely pathogenic	19	11210967	11210967	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584764,LDLR-LOVD, British Heart Foundation:LDLR_001206
single nucleotide variant	NM_000527.5(LDLR):c.137G>A (p.Cys46Tyr)	LDLR	Likely pathogenic	19	11210968	11210968	G	A	criteria provided, single submitter	ClinGen:CA10584765,LDLR-LOVD, British Heart Foundation:LDLR_000931
single nucleotide variant	NM_000527.5(LDLR):c.138C>A (p.Cys46Ter)	LDLR	Pathogenic	19	11210969	11210969	C	A	criteria provided, single submitter	ClinGen:CA10584766,LDLR-LOVD, British Heart Foundation:LDLR_000891
Deletion	NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del)	LDLR	Likely pathogenic	19	11210970	11210975	TGCGATG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023466,LDLR-LOVD, British Heart Foundation:LDLR_001414,OMIM:606945.0002
Deletion	NM_000527.5(LDLR):c.148del (p.Ala50fs)	LDLR	Pathogenic	19	11210979	11210979	CG	C	criteria provided, single submitter	ClinGen:CA10584768,LDLR-LOVD, British Heart Foundation:LDLR_000781
single nucleotide variant	NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11210986	11210986	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584769,LDLR-LOVD, British Heart Foundation:LDLR_001454,UniProtKB:P01130#VAR_005306
single nucleotide variant	NM_000527.5(LDLR):c.157C>T (p.Gln53Ter)	LDLR	Pathogenic	19	11210988	11210988	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584770,LDLR-LOVD, British Heart Foundation:LDLR_001029
single nucleotide variant	NM_000527.5(LDLR):c.172G>A (p.Glu58Lys)	LDLR	Likely pathogenic	19	11211003	11211003	G	A	criteria provided, single submitter	ClinGen:CA10584773,LDLR-LOVD, British Heart Foundation:LDLR_001505