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.1998del (p.Trp666fs)	LDLR	Pathogenic	19	11231055	11231055	TG	T	criteria provided, single submitter	ClinGen:CA10585720,LDLR-LOVD, British Heart Foundation:LDLR_000273
single nucleotide variant	NM_000527.5(LDLR):c.1999T>A (p.Cys667Ser)	LDLR	Likely pathogenic	19	11231057	11231057	T	A	criteria provided, single submitter	ClinGen:CA10585721,LDLR-LOVD, British Heart Foundation:LDLR_000910
single nucleotide variant	NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)	LDLR	Pathogenic/Likely pathogenic	19	11231057	11231057	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585722,LDLR-LOVD, British Heart Foundation:LDLR_000576
single nucleotide variant	NM_000527.5(LDLR):c.2000G>T (p.Cys667Phe)	LDLR	Likely pathogenic	19	11231058	11231058	G	T	criteria provided, single submitter	ClinGen:CA10585723,LDLR-LOVD, British Heart Foundation:LDLR_000392
Deletion	NM_000527.5(LDLR):c.2000del (p.Cys667fs)	LDLR	Pathogenic	19	11231058	11231058	TG	T	criteria provided, single submitter	ClinGen:CA10585724,LDLR-LOVD, British Heart Foundation:LDLR_001580
single nucleotide variant	NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter)	LDLR	Pathogenic	19	11231059	11231059	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585725,LDLR-LOVD, British Heart Foundation:LDLR_001581
single nucleotide variant	NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp)	LDLR	Pathogenic/Likely pathogenic	19	11231059	11231059	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585726,LDLR-LOVD, British Heart Foundation:LDLR_001582
Deletion	NM_000527.5(LDLR):c.2001_2007del (p.Trp666_Cys667insTer)	LDLR	Pathogenic	19	11231059	11231065	TGTGAGAG	T	criteria provided, single submitter	ClinGen:CA10585727,LDLR-LOVD, British Heart Foundation:LDLR_000807
Deletion	NM_000527.5(LDLR):c.2013_2014del (p.Leu672fs)	LDLR	Pathogenic	19	11231071	11231072	ACC	A	criteria provided, single submitter	ClinGen:CA10585728,LDLR-LOVD, British Heart Foundation:LDLR_001584
Deletion	NM_000527.5(LDLR):c.2014del (p.Thr671_Leu672insTer)	LDLR	Pathogenic	19	11231070	11231070	AC	A	criteria provided, single submitter	ClinGen:CA10585729,LDLR-LOVD, British Heart Foundation:LDLR_001583