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.2015del (p.Leu672fs)	LDLR	Pathogenic	19	11231073	11231073	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585730,LDLR-LOVD, British Heart Foundation:LDLR_000645
single nucleotide variant	NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg)	LDLR	Likely pathogenic	19	11231084	11231084	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585731,LDLR-LOVD, British Heart Foundation:LDLR_001586
single nucleotide variant	NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr)	LDLR	Likely pathogenic	19	11231088	11231088	G	A	criteria provided, single submitter	ClinGen:CA10585732,LDLR-LOVD, British Heart Foundation:LDLR_001589
Deletion	NM_000527.5(LDLR):c.2030_2042del (p.Cys677fs)	LDLR	Pathogenic	19	11231088	11231100	TGCCAGTATCTGTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585733,LDLR-LOVD, British Heart Foundation:LDLR_001588
single nucleotide variant	NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter)	LDLR	Pathogenic	19	11231090	11231090	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585734,LDLR-LOVD, British Heart Foundation:LDLR_001590
Deletion	NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del)	LDLR	Likely pathogenic	19	11231091	11231102	CTGCCAGTATCTG	C	criteria provided, single submitter	ClinGen:CA10585735,LDLR-LOVD, British Heart Foundation:LDLR_000343
Duplication	NM_000527.5(LDLR):c.2035dup (p.Tyr679fs)	LDLR	Pathogenic	19	11231093	11231093	G	GT	criteria provided, single submitter	ClinGen:CA10585736,LDLR-LOVD, British Heart Foundation:LDLR_000580
Duplication	NM_000527.5(LDLR):c.2036dup (p.Tyr679Ter)	LDLR	Pathogenic	19	11231094	11231094	T	TA	criteria provided, single submitter	ClinGen:CA10585737,LDLR-LOVD, British Heart Foundation:LDLR_000927
single nucleotide variant	NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)	LDLR	Pathogenic/Likely pathogenic	19	11231095	11231095	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585738,LDLR-LOVD, British Heart Foundation:LDLR_000671
single nucleotide variant	NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11231100	11231100	G	A	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001591,ClinGen:CA10585741