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.516C>G (p.Asp172Glu)	LDLR	Likely pathogenic	19	11216098	11216098	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584961,LDLR-LOVD, British Heart Foundation:LDLR_000070
Duplication	NM_000527.5(LDLR):c.516_524dup (p.Cys173_Asp175dup)	LDLR	Likely pathogenic	19	11216098	11216106	C	CGACTGCGAA	criteria provided, single submitter	ClinGen:CA10584962,LDLR-LOVD, British Heart Foundation:LDLR_001752
single nucleotide variant	NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216099	11216099	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584963,LDLR-LOVD, British Heart Foundation:LDLR_000071,UniProtKB:P01130#VAR_005324
single nucleotide variant	NM_000527.5(LDLR):c.517T>G (p.Cys173Gly)	LDLR	Likely pathogenic	19	11216099	11216099	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584964,LDLR-LOVD, British Heart Foundation:LDLR_000072
single nucleotide variant	NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr)	LDLR	Likely pathogenic	19	11216100	11216100	G	A	criteria provided, single submitter	ClinGen:CA10584965,LDLR-LOVD, British Heart Foundation:LDLR_001753
Deletion	NM_000527.5(LDLR):c.518del (p.Cys173fs)	LDLR	Pathogenic	19	11216100	11216100	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584966,LDLR-LOVD, British Heart Foundation:LDLR_000073
single nucleotide variant	NM_000527.5(LDLR):c.519C>A (p.Cys173Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216101	11216101	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584967,LDLR-LOVD, British Heart Foundation:LDLR_001754
single nucleotide variant	NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)	LDLR	Pathogenic/Likely pathogenic	19	11216101	11216101	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584968,LDLR-LOVD, British Heart Foundation:LDLR_000391,UniProtKB:P01130#VAR_005325
single nucleotide variant	NM_000527.5(LDLR):c.523G>T (p.Asp175Tyr)	LDLR	Likely pathogenic	19	11216105	11216105	G	T	criteria provided, single submitter	ClinGen:CA10584969,LDLR-LOVD, British Heart Foundation:LDLR_000432,UniProtKB:P01130#VAR_007981
Deletion	NM_000527.5(LDLR):c.525_536del (p.Asp175_Asp178del)	LDLR	Likely pathogenic	19	11216107	11216118	AGATGGCTCGGAT	A	criteria provided, single submitter	ClinGen:CA10584970,LDLR-LOVD, British Heart Foundation:LDLR_000464