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.2546del (p.Pro848_Ser849insTer)	LDLR	Pathogenic/Likely pathogenic	19	11240345	11240345	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585879,LDLR-LOVD, British Heart Foundation:LDLR_001007
Duplication	NM_000527.5(LDLR):c.2544dup (p.Ser849fs)	LDLR	Pathogenic/Likely pathogenic	19	11240343	11240343	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585877,LDLR-LOVD, British Heart Foundation:LDLR_001664
single nucleotide variant	NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)	LDLR	Pathogenic/Likely pathogenic	19	11240237	11240237	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585866,LDLR-LOVD, British Heart Foundation:LDLR_000305
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
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+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11238762	11238762	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585837,LDLR-LOVD, British Heart Foundation:LDLR_000396
single nucleotide variant	NM_000527.5(LDLR):c.2311+2T>G	LDLR	Pathogenic/Likely pathogenic	19	11234022	11234022	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585822,LDLR-LOVD, British Heart Foundation:LDLR_000883
single nucleotide variant	NM_000527.5(LDLR):c.2311+1G>T	LDLR	Pathogenic/Likely pathogenic	19	11234021	11234021	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585821,LDLR-LOVD, British Heart Foundation:LDLR_001627
single nucleotide variant	NM_000527.5(LDLR):c.2140+2T>C	LDLR	Pathogenic/Likely pathogenic	19	11231200	11231200	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585790,LDLR-LOVD, British Heart Foundation:LDLR_001610
single nucleotide variant	NM_000527.5(LDLR):c.2140+1G>T	LDLR	Pathogenic/Likely pathogenic	19	11231199	11231199	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585788,LDLR-LOVD, British Heart Foundation:LDLR_001609