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.2389+1G>T	LDLR	Pathogenic/Likely pathogenic	19	11238762	11238762	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585838,LDLR-LOVD, British Heart Foundation:LDLR_000347
single nucleotide variant	NM_000527.5(LDLR):c.2389+2T>G	LDLR	Pathogenic	19	11238763	11238763	T	G	reviewed by expert panel	ClinGen:CA10585839,LDLR-LOVD, British Heart Foundation:LDLR_000733
Indel	NM_000527.5(LDLR):c.2389+2_2389+5delinsGGCCCCAT	LDLR	Likely pathogenic	19	11238763	11238766	TAAG	GGCCCCAT	criteria provided, single submitter	ClinGen:CA10585840,LDLR-LOVD, British Heart Foundation:LDLR_001637
single nucleotide variant	NM_000527.5(LDLR):c.2390-2A>G	LDLR	Pathogenic	19	11240187	11240187	A	G	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000303,ClinGen:CA040410
single nucleotide variant	NM_000527.5(LDLR):c.2390-1G>A	LDLR	Pathogenic	19	11240188	11240188	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585846,LDLR-LOVD, British Heart Foundation:LDLR_001212
single nucleotide variant	NM_000527.5(LDLR):c.2390-1G>C	LDLR	Pathogenic/Likely pathogenic	19	11240188	11240188	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585847,LDLR-LOVD, British Heart Foundation:LDLR_000460
Deletion	NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del)	LDLR	Likely pathogenic	19	11240191	11240199	GCTCCTCGTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585848,LDLR-LOVD, British Heart Foundation:LDLR_001126
single nucleotide variant	NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg)	LDLR	Likely pathogenic	19	11240195	11240195	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585850,LDLR-LOVD, British Heart Foundation:LDLR_000317
Deletion	NM_000527.5(LDLR):c.2397_2412del (p.Val800fs)	LDLR	Likely pathogenic	19	11240196	11240211	TCGTCTTCCTTTGCCTG	T	reviewed by expert panel	ClinGen:CA10585851,LDLR-LOVD, British Heart Foundation:LDLR_001643
Indel	NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs)	LDLR	Pathogenic	19	11240198	11240202	TCTTC	GGGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585853,LDLR-LOVD, British Heart Foundation:LDLR_000855