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
Duplication	NM_000527.5(LDLR):c.708dup (p.Arg237fs)	LDLR	Pathogenic	19	11217254	11217254	G	GT	criteria provided, single submitter	ClinGen:CA10585101,LDLR-LOVD, British Heart Foundation:LDLR_001827
single nucleotide variant	NM_000527.5(LDLR):c.718G>T (p.Glu240Ter)	LDLR	Pathogenic	19	11217264	11217264	G	T	reviewed by expert panel	ClinGen:CA10585103,LDLR-LOVD, British Heart Foundation:LDLR_001040
single nucleotide variant	NM_000527.5(LDLR):c.722T>C (p.Phe241Ser)	LDLR	Likely pathogenic	19	11217268	11217268	T	C	criteria provided, single submitter	ClinGen:CA044642,LDLR-LOVD, British Heart Foundation:LDLR_000674
single nucleotide variant	NM_000527.5(LDLR):c.724C>T (p.Gln242Ter)	LDLR	Pathogenic	19	11217270	11217270	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585104,LDLR-LOVD, British Heart Foundation:LDLR_001829
single nucleotide variant	NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)	LDLR	Likely pathogenic	19	11217273	11217273	T	C	reviewed by expert panel	UniProtKB:P01130#VAR_072835,ClinGen:CA10585105,LDLR-LOVD, British Heart Foundation:LDLR_001830
Deletion	NM_000527.5(LDLR):c.737del (p.Gly246fs)	LDLR	Pathogenic	19	11217282	11217282	TG	T	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001831,ClinGen:CA10585107
single nucleotide variant	NM_000527.5(LDLR):c.742T>G (p.Cys248Gly)	LDLR	Likely pathogenic	19	11217288	11217288	T	G	criteria provided, single submitter	ClinGen:CA10585108,LDLR-LOVD, British Heart Foundation:LDLR_000790
single nucleotide variant	NM_000527.5(LDLR):c.743G>A (p.Cys248Tyr)	LDLR	Likely pathogenic	19	11217289	11217289	G	A	criteria provided, single submitter	ClinGen:CA10585109,LDLR-LOVD, British Heart Foundation:LDLR_000407,UniProtKB:P01130#VAR_005345
single nucleotide variant	NM_000527.5(LDLR):c.743G>T (p.Cys248Phe)	LDLR	Pathogenic/Likely pathogenic	19	11217289	11217289	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585110,LDLR-LOVD, British Heart Foundation:LDLR_001833,UniProtKB:P01130#VAR_005344
single nucleotide variant	NM_000527.5(LDLR):c.744C>A (p.Cys248Ter)	LDLR	Pathogenic	19	11217290	11217290	C	A	criteria provided, single submitter	ClinGen:CA10585111,LDLR-LOVD, British Heart Foundation:LDLR_000110