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.415G>C (p.Asp139His)	LDLR	Likely pathogenic	19	11215997	11215997	G	C	criteria provided, single submitter	ClinGen:CA10584908,LDLR-LOVD, British Heart Foundation:LDLR_000056,UniProtKB:P01130#VAR_065780
single nucleotide variant	NM_000527.5(LDLR):c.416A>G (p.Asp139Gly)	LDLR	Pathogenic/Likely pathogenic	19	11215998	11215998	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584909,LDLR-LOVD, British Heart Foundation:LDLR_001727
single nucleotide variant	NM_000527.5(LDLR):c.416A>T (p.Asp139Val)	LDLR	Pathogenic/Likely pathogenic	19	11215998	11215998	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584910,LDLR-LOVD, British Heart Foundation:LDLR_001728
single nucleotide variant	NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)	LDLR	Pathogenic	19	11216000	11216000	G	A	reviewed by expert panel	ClinGen:CA10584911,LDLR-LOVD, British Heart Foundation:LDLR_001730,UniProtKB:P01130#VAR_005318
single nucleotide variant	NM_000527.5(LDLR):c.418G>T (p.Glu140Ter)	LDLR	Pathogenic	19	11216000	11216000	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA043486,LDLR-LOVD, British Heart Foundation:LDLR_001731
single nucleotide variant	NM_000527.5(LDLR):c.419A>G (p.Glu140Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216001	11216001	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584912,LDLR-LOVD, British Heart Foundation:LDLR_000785
single nucleotide variant	NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	LDLR	Pathogenic/Likely pathogenic	19	11216002	11216002	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584913,LDLR-LOVD, British Heart Foundation:LDLR_000057
single nucleotide variant	NM_000527.5(LDLR):c.420G>T (p.Glu140Asp)	LDLR	Pathogenic/Likely pathogenic	19	11216002	11216002	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584914,LDLR-LOVD, British Heart Foundation:LDLR_001732
Deletion	NM_000527.5(LDLR):c.424_430del (p.Ser142fs)	LDLR	Pathogenic	19	11216006	11216012	GGCCTCCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584915,LDLR-LOVD, British Heart Foundation:LDLR_001247
single nucleotide variant	NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216009	11216009	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584916,LDLR-LOVD, British Heart Foundation:LDLR_000058,UniProtKB:P01130#VAR_072828