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.1979A>G (p.Gln660Arg)	LDLR	Likely pathogenic	19	11230901	11230901	A	G	criteria provided, single submitter	ClinGen:CA10585706,LDLR-LOVD, British Heart Foundation:LDLR_001234
Indel	NM_000527.5(LDLR):c.1986_1987delinsC (p.Arg662fs)	LDLR	Pathogenic	19	11230908	11230909	AG	C	criteria provided, single submitter	ClinGen:CA10585707,LDLR-LOVD, British Heart Foundation:LDLR_000268
Deletion	NM_000527.5(LDLR):c.1987+1del	LDLR	Pathogenic	19	11230909	11230909	AG	A	criteria provided, single submitter	ClinGen:CA10585708,LDLR-LOVD, British Heart Foundation:LDLR_000574
Deletion	NM_000527.5(LDLR):c.1987+2_1987+34del	LDLR	Likely pathogenic	19	11230910	11230942	GGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTT	G	criteria provided, single submitter	ClinGen:CA10585709,LDLR-LOVD, British Heart Foundation:LDLR_001575
Deletion	NM_000527.5(LDLR):c.1988-52_2006del	LDLR	Pathogenic	19	11230994	11231064	CTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG	C	criteria provided, single submitter	ClinGen:CA10585711,LDLR-LOVD, British Heart Foundation:LDLR_000270
single nucleotide variant	NM_000527.5(LDLR):c.1988-2A>T	LDLR	Pathogenic/Likely pathogenic	19	11231044	11231044	A	T	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001576,ClinGen:CA10585713
single nucleotide variant	NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu)	LDLR	Likely pathogenic	19	11231046	11231046	G	A	criteria provided, single submitter	ClinGen:CA10585714,LDLR-LOVD, British Heart Foundation:LDLR_000367
Deletion	NM_000527.5(LDLR):c.1996_2012del (p.Trp666fs)	LDLR	Pathogenic	19	11231054	11231070	AACTGGTGTGAGAGGACC	A	criteria provided, single submitter	ClinGen:CA10585716,LDLR-LOVD, British Heart Foundation:LDLR_000272
single nucleotide variant	NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter)	LDLR	Pathogenic	19	11231055	11231055	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585717,LDLR-LOVD, British Heart Foundation:LDLR_001579
single nucleotide variant	NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter)	LDLR	Pathogenic	19	11231056	11231056	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585719,LDLR-LOVD, British Heart Foundation:LDLR_000575