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.593C>A (p.Ser198Ter)	LDLR	Pathogenic	19	11216175	11216175	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585002,LDLR-LOVD, British Heart Foundation:LDLR_001767
Deletion	NM_000527.5(LDLR):c.600del (p.Phe200fs)	LDLR	Pathogenic	19	11216182	11216182	TC	T	criteria provided, single submitter	ClinGen:CA10585006,LDLR-LOVD, British Heart Foundation:LDLR_000786
single nucleotide variant	NM_000527.5(LDLR):c.601G>A (p.Glu201Lys)	LDLR	Likely pathogenic	19	11216183	11216183	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585007,LDLR-LOVD, British Heart Foundation:LDLR_000086,UniProtKB:P01130#VAR_065781
single nucleotide variant	NM_000527.5(LDLR):c.605T>C (p.Phe202Ser)	LDLR	Likely pathogenic	19	11216187	11216187	T	C	criteria provided, single submitter	ClinGen:CA10585008,LDLR-LOVD, British Heart Foundation:LDLR_001769
Deletion	NM_000527.5(LDLR):c.609del (p.Cys204fs)	LDLR	Pathogenic	19	11216191	11216191	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585009,LDLR-LOVD, British Heart Foundation:LDLR_001770
single nucleotide variant	NM_000527.5(LDLR):c.611G>A (p.Cys204Tyr)	LDLR	Likely pathogenic	19	11216193	11216193	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585010,LDLR-LOVD, British Heart Foundation:LDLR_001771
single nucleotide variant	NM_000527.5(LDLR):c.611G>C (p.Cys204Ser)	LDLR	Likely pathogenic	19	11216193	11216193	G	C	criteria provided, single submitter	ClinGen:CA10585011,LDLR-LOVD, British Heart Foundation:LDLR_000939
single nucleotide variant	NM_000527.5(LDLR):c.611G>T (p.Cys204Phe)	LDLR	Likely pathogenic	19	11216193	11216193	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585012,LDLR-LOVD, British Heart Foundation:LDLR_000087
Duplication	NM_000527.5(LDLR):c.616dup (p.Ser206fs)	LDLR	Pathogenic	19	11216198	11216198	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585013,LDLR-LOVD, British Heart Foundation:LDLR_001772
Deletion	NM_000527.5(LDLR):c.617del (p.Ser206fs)	LDLR	Pathogenic	19	11216199	11216199	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585014,LDLR-LOVD, British Heart Foundation:LDLR_000482