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.536A>G (p.Glu179Gly)	LDLR	Likely pathogenic	19	11216118	11216118	A	G	criteria provided, single submitter	ClinGen:CA10584981,LDLR-LOVD, British Heart Foundation:LDLR_001760
single nucleotide variant	NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216121	11216121	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584982,LDLR-LOVD, British Heart Foundation:LDLR_001761
single nucleotide variant	NM_000527.5(LDLR):c.544C>T (p.Gln182Ter)	LDLR	Pathogenic	19	11216126	11216126	C	T	criteria provided, single submitter	ClinGen:CA10584983,LDLR-LOVD, British Heart Foundation:LDLR_000703
single nucleotide variant	NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216132	11216132	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584984,LDLR-LOVD, British Heart Foundation:LDLR_000077
single nucleotide variant	NM_000527.5(LDLR):c.552T>G (p.Cys184Trp)	LDLR	Likely pathogenic	19	11216134	11216134	T	G	criteria provided, single submitter	ClinGen:CA10584985,LDLR-LOVD, British Heart Foundation:LDLR_000858,UniProtKB:P01130#VAR_072833
Deletion	NM_000527.5(LDLR):c.557del (p.Gly186fs)	LDLR	Pathogenic	19	11216136	11216136	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584986,LDLR-LOVD, British Heart Foundation:LDLR_000649
Insertion	NM_000527.5(LDLR):c.558_559insG (p.Leu187fs)	LDLR	Pathogenic	19	11216140	11216141	T	TG	criteria provided, single submitter	ClinGen:CA10584987,LDLR-LOVD, British Heart Foundation:LDLR_000331
Deletion	NM_000527.5(LDLR):c.561_562del (p.Tyr188fs)	LDLR	Pathogenic	19	11216143	11216144	CTT	C	criteria provided, single submitter	ClinGen:CA10584988,LDLR-LOVD, British Heart Foundation:LDLR_001762
Deletion	NM_000527.5(LDLR):c.562del (p.Tyr188fs)	LDLR	Pathogenic	19	11216142	11216142	CT	C	criteria provided, single submitter	ClinGen:CA10584989,LDLR-LOVD, British Heart Foundation:LDLR_000079
single nucleotide variant	NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter)	LDLR	Pathogenic	19	11216146	11216146	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584990,LDLR-LOVD, British Heart Foundation:LDLR_000704