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.283T>C (p.Cys95Arg)	LDLR	Pathogenic/Likely pathogenic	19	11213432	11213432	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584824,LDLR-LOVD, British Heart Foundation:LDLR_000766
single nucleotide variant	NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)	LDLR	Pathogenic/Likely pathogenic	19	11213433	11213433	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584827,LDLR-LOVD, British Heart Foundation:LDLR_000934
single nucleotide variant	NM_000527.5(LDLR):c.285C>A (p.Cys95Ter)	LDLR	Pathogenic	19	11213434	11213434	C	A	criteria provided, single submitter	ClinGen:CA10584828,LDLR-LOVD, British Heart Foundation:LDLR_001680
single nucleotide variant	NM_000527.5(LDLR):c.291C>G (p.Asn97Lys)	LDLR	Likely pathogenic	19	11213440	11213440	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584829,LDLR-LOVD, British Heart Foundation:LDLR_001682
Deletion	NM_000527.5(LDLR):c.296_297del (p.Gly98_Ser99insTer)	LDLR	Pathogenic	19	11213445	11213446	TCA	T	criteria provided, single submitter	ClinGen:CA10584831,LDLR-LOVD, British Heart Foundation:LDLR_001684
single nucleotide variant	NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)	LDLR	Likely pathogenic	19	11213447	11213447	G	A	reviewed by expert panel	ClinGen:CA10584832,LDLR-LOVD, British Heart Foundation:LDLR_001686
single nucleotide variant	NM_000527.5(LDLR):c.299A>G (p.Asp100Gly)	LDLR	Likely pathogenic	19	11213448	11213448	A	G	reviewed by expert panel	ClinGen:CA10584833,LDLR-LOVD, British Heart Foundation:LDLR_000783
single nucleotide variant	NM_000527.5(LDLR):c.301G>T (p.Glu101Ter)	LDLR	Pathogenic	19	11213450	11213450	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584834,LDLR-LOVD, British Heart Foundation:LDLR_001688
Deletion	NM_000527.5(LDLR):c.301del (p.Glu101fs)	LDLR	Pathogenic	19	11213450	11213450	CG	C	criteria provided, single submitter	ClinGen:CA10584835,LDLR-LOVD, British Heart Foundation:LDLR_001687
Deletion	NM_000527.5(LDLR):c.303del (p.Glu101fs)	LDLR	Pathogenic	19	11213452	11213452	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA042799,LDLR-LOVD, British Heart Foundation:LDLR_000693