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.809G>A (p.Cys270Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11217355	11217355	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585143,LDLR-LOVD, British Heart Foundation:LDLR_001843,UniProtKB:P01130#VAR_005348
single nucleotide variant	NM_000527.5(LDLR):c.810C>A (p.Cys270Ter)	LDLR	Pathogenic	19	11217356	11217356	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585144,LDLR-LOVD, British Heart Foundation:LDLR_000911
Deletion	NM_000527.5(LDLR):c.814_817del (p.Val271_Asn272insTer)	LDLR	Pathogenic	19	11217360	11217363	TAATG	T	criteria provided, single submitter	ClinGen:CA10585145,LDLR-LOVD, British Heart Foundation:LDLR_001046
single nucleotide variant	NM_000527.5(LDLR):c.817+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11217364	11217364	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585147,LDLR-LOVD, British Heart Foundation:LDLR_001218
single nucleotide variant	NM_000527.5(LDLR):c.817+2T>C	LDLR	Likely pathogenic	19	11217365	11217365	T	C	criteria provided, single submitter	ClinGen:CA10585148,LDLR-LOVD, British Heart Foundation:LDLR_000124
single nucleotide variant	NM_000527.5(LDLR):c.818-2A>G	LDLR	Pathogenic	19	11218066	11218066	A	G	reviewed by expert panel	ClinGen:CA10585149,LDLR-LOVD, British Heart Foundation:LDLR_000125
single nucleotide variant	NM_000527.5(LDLR):c.818-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11218067	11218067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585150,LDLR-LOVD, British Heart Foundation:LDLR_000673
Deletion	NM_000527.5(LDLR):c.820_827del (p.Thr274fs)	LDLR	Pathogenic	19	11218070	11218077	GTGACACTC	G	criteria provided, single submitter	ClinGen:CA10585152,LDLR-LOVD, British Heart Foundation:LDLR_000831
single nucleotide variant	NM_000527.5(LDLR):c.826T>G (p.Cys276Gly)	LDLR	Likely pathogenic	19	11218076	11218076	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585155,LDLR-LOVD, British Heart Foundation:LDLR_000832
single nucleotide variant	NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11218077	11218077	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA029759,LDLR-LOVD, British Heart Foundation:LDLR_000619,UniProtKB:P01130#VAR_005349