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
Deletion	NM_000527.5(LDLR):c.1779del (p.Asn594fs)	LDLR	Pathogenic	19	11227608	11227608	GC	G	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000657,ClinGen:CA10585608
single nucleotide variant	NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu)	LDLR	Likely pathogenic	19	11227613	11227613	G	T	reviewed by expert panel	ClinGen:CA10585609,LDLR-LOVD, British Heart Foundation:LDLR_001067
Deletion	NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs)	LDLR	Pathogenic	19	11227613	11227619	CCGGAAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585610,LDLR-LOVD, British Heart Foundation:LDLR_000240
single nucleotide variant	NM_000527.5(LDLR):c.1786A>T (p.Lys596Ter)	LDLR	Pathogenic	19	11227615	11227615	A	T	criteria provided, single submitter	ClinGen:CA10585611,LDLR-LOVD, British Heart Foundation:LDLR_001521
Deletion	NM_000527.5(LDLR):c.1789del (p.Thr597fs)	LDLR	Pathogenic	19	11227618	11227618	GA	G	criteria provided, single submitter	ClinGen:CA10585612,LDLR-LOVD, British Heart Foundation:LDLR_001068
single nucleotide variant	NM_000527.5(LDLR):c.1798G>T (p.Glu600Ter)	LDLR	Pathogenic	19	11227627	11227627	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585618,LDLR-LOVD, British Heart Foundation:LDLR_001524
single nucleotide variant	NM_000527.5(LDLR):c.1801G>T (p.Asp601Tyr)	LDLR	Likely pathogenic	19	11227630	11227630	G	T	criteria provided, single submitter	ClinGen:CA10585620,LDLR-LOVD, British Heart Foundation:LDLR_000242
single nucleotide variant	NM_000527.5(LDLR):c.1802A>T (p.Asp601Val)	LDLR	Likely pathogenic	19	11227631	11227631	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585621,LDLR-LOVD, British Heart Foundation:LDLR_001525
Duplication	NM_000527.5(LDLR):c.1802dup (p.Asp601fs)	LDLR	Pathogenic	19	11227631	11227631	G	GA	criteria provided, single submitter	ClinGen:CA10585622,LDLR-LOVD, British Heart Foundation:LDLR_000745
single nucleotide variant	NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter)	LDLR	Pathogenic	19	11227636	11227636	A	T	criteria provided, single submitter	ClinGen:CA10585623,LDLR-LOVD, British Heart Foundation:LDLR_000243