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.2191del (p.Val731fs)	LDLR	Pathogenic	19	11233899	11233899	AG	A	criteria provided, single submitter	ClinGen:CA10585804,LDLR-LOVD, British Heart Foundation:LDLR_001614
Duplication	NM_000527.5(LDLR):c.2207dup (p.Arg737fs)	LDLR	Pathogenic	19	11233916	11233916	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585807,LDLR-LOVD, British Heart Foundation:LDLR_000687
single nucleotide variant	NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)	LDLR	Pathogenic	19	11233924	11233924	C	T	reviewed by expert panel	ClinGen:CA10585809,LDLR-LOVD, British Heart Foundation:LDLR_000289
Deletion	NM_000527.5(LDLR):c.2226del (p.Thr743fs)	LDLR	Pathogenic	19	11233934	11233934	AC	A	criteria provided, single submitter	ClinGen:CA10585810,LDLR-LOVD, British Heart Foundation:LDLR_001616
Deletion	NM_000527.5(LDLR):c.2230del (p.Arg744fs)	LDLR	Pathogenic	19	11233937	11233937	AC	A	criteria provided, single submitter	ClinGen:CA10585811,LDLR-LOVD, British Heart Foundation:LDLR_001617
Deletion	NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs)	LDLR	Pathogenic	19	11233973	11233982	GGGCCACCCCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585812,LDLR-LOVD, British Heart Foundation:LDLR_001619
Deletion	NM_000527.5(LDLR):c.2266del (p.Thr756fs)	LDLR	Pathogenic	19	11233975	11233975	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585813,LDLR-LOVD, British Heart Foundation:LDLR_001620
Deletion	NM_000527.5(LDLR):c.2297_2298del (p.Thr766fs)	LDLR	Pathogenic	19	11234006	11234007	GAC	G	criteria provided, single submitter	ClinGen:CA10585817,LDLR-LOVD, British Heart Foundation:LDLR_000292
Deletion	NM_000527.5(LDLR):c.2299del (p.Met767fs)	LDLR	Pathogenic	19	11234007	11234007	CA	C	criteria provided, single submitter	ClinGen:CA10585818,LDLR-LOVD, British Heart Foundation:LDLR_001625
single nucleotide variant	NM_000527.5(LDLR):c.2308C>T (p.Gln770Ter)	LDLR	Pathogenic	19	11234017	11234017	C	T	criteria provided, single submitter	ClinGen:CA039441,LDLR-LOVD, British Heart Foundation:LDLR_000589