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
Deletion	NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs)	LDLR	Pathogenic	19	11240202	11240205	TCTTC	T	criteria provided, single submitter	ClinGen:CA10585854,LDLR-LOVD, British Heart Foundation:LDLR_001644
Duplication	NM_000527.5(LDLR):c.2408_2409dup (p.Leu804fs)	LDLR	Pathogenic	19	11240207	11240208	T	TGC	criteria provided, single submitter	ClinGen:CA10585856,LDLR-LOVD, British Heart Foundation:LDLR_000811
single nucleotide variant	NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg)	LDLR	Likely pathogenic	19	11240212	11240212	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585858,LDLR-LOVD, British Heart Foundation:LDLR_001645
Deletion	NM_000527.5(LDLR):c.2416del (p.Val806fs)	LDLR	Pathogenic	19	11240211	11240211	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585859,LDLR-LOVD, British Heart Foundation:LDLR_000491
Duplication	NM_000527.5(LDLR):c.2416dup (p.Val806fs)	LDLR	Pathogenic	19	11240215	11240215	T	TG	reviewed by expert panel	ClinGen:CA040715,LDLR-LOVD, British Heart Foundation:LDLR_000304
Insertion	NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs)	LDLR	Pathogenic	19	11240216	11240217	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585861,LDLR-LOVD, British Heart Foundation:LDLR_001646
Insertion	NM_000527.5(LDLR):c.2417_2418insGG (p.Phe807fs)	LDLR	Pathogenic	19	11240216	11240217	T	TGG	criteria provided, single submitter	ClinGen:CA10585862,LDLR-LOVD, British Heart Foundation:LDLR_000778
Deletion	NM_000527.5(LDLR):c.2420_2426del (p.Phe807fs)	LDLR	Pathogenic	19	11240219	11240225	GTCTTCCT	G	criteria provided, single submitter	ClinGen:CA10585863,LDLR-LOVD, British Heart Foundation:LDLR_000332
single nucleotide variant	NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter)	LDLR	Pathogenic	19	11240229	11240229	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585864,LDLR-LOVD, British Heart Foundation:LDLR_001088
single nucleotide variant	NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)	LDLR	Pathogenic	19	11240230	11240230	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585865,LDLR-LOVD, British Heart Foundation:LDLR_001648