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.427T>G (p.Cys143Gly)	LDLR	Likely pathogenic	19	11216009	11216009	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576283,LDLR-LOVD, British Heart Foundation:LDLR_001733
single nucleotide variant	NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)	LDLR	Pathogenic	19	11216011	11216011	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA043532,LDLR-LOVD, British Heart Foundation:LDLR_001734
single nucleotide variant	NM_000527.5(LDLR):c.533A>T (p.Asp178Val)	LDLR	Likely pathogenic	19	11216115	11216115	A	T	criteria provided, single submitter	ClinGen:CA10576284,LDLR-LOVD, British Heart Foundation:LDLR_001757
Duplication	NM_000527.5(LDLR):c.648dup (p.Asp217Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216230	11216230	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576285,LDLR-LOVD, British Heart Foundation:LDLR_001784
Deletion	NM_000527.5(LDLR):c.660del (p.Asp221fs)	LDLR	Pathogenic	19	11216239	11216239	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576286,LDLR-LOVD, British Heart Foundation:LDLR_000679
single nucleotide variant	NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	LDLR	Pathogenic/Likely pathogenic	19	11216243	11216243	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576287,LDLR-LOVD, British Heart Foundation:LDLR_000490,UniProtKB:P01130#VAR_007982
single nucleotide variant	NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)	LDLR	Likely pathogenic	19	11216246	11216246	T	C	reviewed by expert panel	ClinGen:CA044260,LDLR-LOVD, British Heart Foundation:LDLR_000707
single nucleotide variant	NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	LDLR	Pathogenic	19	11216264	11216264	G	T	reviewed by expert panel	ClinGen:CA044327,LDLR-LOVD, British Heart Foundation:LDLR_001818
single nucleotide variant	NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)	LDLR	Pathogenic	19	11217342	11217342	G	A	reviewed by expert panel	ClinGen:CA10576288,LDLR-LOVD, British Heart Foundation:LDLR_000469
Duplication	NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer)	LDLR	Pathogenic	19	11218155	11218156	G	GCCGGGACTGGTCAGATGAA	criteria provided, single submitter	ClinGen:CA10576289