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.1705+1G>T	LDLR	Pathogenic/Likely pathogenic	19	11226889	11226889	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585572,LDLR-LOVD, British Heart Foundation:LDLR_001494
Insertion	NM_000527.5(LDLR):c.1705+2_1705+3insC	LDLR	Pathogenic/Likely pathogenic	19	11226890	11226891	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585573,LDLR-LOVD, British Heart Foundation:LDLR_001495
single nucleotide variant	NM_000527.5(LDLR):c.1706-2A>C	LDLR	Pathogenic/Likely pathogenic	19	11227533	11227533	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585577,LDLR-LOVD, British Heart Foundation:LDLR_001499
single nucleotide variant	NM_000527.5(LDLR):c.1706-1G>A	LDLR	Likely pathogenic	19	11227534	11227534	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585578,LDLR-LOVD, British Heart Foundation:LDLR_001159
single nucleotide variant	NM_000527.5(LDLR):c.1706-1G>T	LDLR	Pathogenic/Likely pathogenic	19	11227534	11227534	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585579,LDLR-LOVD, British Heart Foundation:LDLR_000656
Deletion	NM_000527.5(LDLR):c.1718del (p.Gly573fs)	LDLR	Pathogenic	19	11227546	11227546	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585581,LDLR-LOVD, British Heart Foundation:LDLR_001501
single nucleotide variant	NM_000527.5(LDLR):c.1721G>A (p.Arg574His)	LDLR	Likely pathogenic	19	11227550	11227550	G	A	reviewed by expert panel	ClinGen:CA036197,LDLR-LOVD, British Heart Foundation:LDLR_000233,UniProtKB:P01130#VAR_072852
single nucleotide variant	NM_000527.5(LDLR):c.1727A>C (p.Tyr576Ser)	LDLR	Likely pathogenic	19	11227556	11227556	A	C	criteria provided, single submitter	ClinGen:CA10585582,LDLR-LOVD, British Heart Foundation:LDLR_001152
single nucleotide variant	NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)	LDLR	Pathogenic/Likely pathogenic	19	11227556	11227556	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585583,LDLR-LOVD, British Heart Foundation:LDLR_001503
single nucleotide variant	NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)	LDLR	Pathogenic/Likely pathogenic	19	11227558	11227558	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585584,LDLR-LOVD, British Heart Foundation:LDLR_000802