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
Duplication	NM_000527.5(LDLR):c.339dup (p.Phe114fs)	LDLR	Pathogenic	19	11215921	11215921	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584861,LDLR-LOVD, British Heart Foundation:LDLR_000887
single nucleotide variant	NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	LDLR	Likely pathogenic	19	11215925	11215925	C	T	reviewed by expert panel	ClinGen:CA043225,LDLR-LOVD, British Heart Foundation:LDLR_001036
single nucleotide variant	NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)	LDLR	Pathogenic/Likely pathogenic	19	11215928	11215928	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584862,LDLR-LOVD, British Heart Foundation:LDLR_000360,UniProtKB:P01130#VAR_005317
single nucleotide variant	NM_000527.5(LDLR):c.347G>T (p.Cys116Phe)	LDLR	Likely pathogenic	19	11215929	11215929	G	T	criteria provided, single submitter	ClinGen:CA10584863,LDLR-LOVD, British Heart Foundation:LDLR_000369
Deletion	NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr)	LDLR	Likely pathogenic	19	11215929	11215931	TGCC	T	criteria provided, single submitter	ClinGen:CA10584864,LDLR-LOVD, British Heart Foundation:LDLR_000689
Deletion	NM_000527.5(LDLR):c.347_367del (p.Cys116_Ile122del)	LDLR	Likely pathogenic	19	11215929	11215949	GCTGCCACGATGGGAAGTGCAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584865,LDLR-LOVD, British Heart Foundation:LDLR_001706
Duplication	NM_000527.5(LDLR):c.350_372dup (p.Gln125fs)	LDLR	Pathogenic	19	11215932	11215954	C	CACGATGGGAAGTGCATCTCTCGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584867,LDLR-LOVD, British Heart Foundation:LDLR_001707
Deletion	NM_000527.5(LDLR):c.353del (p.Asp118fs)	LDLR	Pathogenic	19	11215935	11215935	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584868,LDLR-LOVD, British Heart Foundation:LDLR_000384
Deletion	NM_000527.5(LDLR):c.354_356del (p.Asp118_Gly119delinsGlu)	LDLR	Likely pathogenic	19	11215936	11215938	ATGG	A	criteria provided, single submitter	ClinGen:CA10584869,LDLR-LOVD, British Heart Foundation:LDLR_000922
Deletion	NM_000527.5(LDLR):c.356_362del (p.Gly119fs)	LDLR	Pathogenic	19	11215938	11215944	ATGGGAAG	A	criteria provided, single submitter	ClinGen:CA10584870,LDLR-LOVD, British Heart Foundation:LDLR_000403