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.261G>A (p.Trp87Ter)	LDLR	Pathogenic	19	11213410	11213410	G	A	reviewed by expert panel	LDLR-LOVD, British Heart Foundation:LDLR_001248,ClinGen:CA10584814
Indel	NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer)	LDLR	Pathogenic	19	11213410	11213411	GA	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584815,LDLR-LOVD, British Heart Foundation:LDLR_001253
single nucleotide variant	NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)	LDLR	Likely pathogenic	19	11213414	11213414	T	C	reviewed by expert panel	ClinGen:CA10584817,LDLR-LOVD, British Heart Foundation:LDLR_000039
single nucleotide variant	NM_000527.5(LDLR):c.265T>G (p.Cys89Gly)	LDLR	Likely pathogenic	19	11213414	11213414	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584818,LDLR-LOVD, British Heart Foundation:LDLR_001673
single nucleotide variant	NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)	LDLR	Pathogenic/Likely pathogenic	19	11213416	11213416	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584819,LDLR-LOVD, British Heart Foundation:LDLR_000040
single nucleotide variant	NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	LDLR	Pathogenic	19	11213417	11213417	G	A	reviewed by expert panel	ClinGen:CA042604,LDLR-LOVD, British Heart Foundation:LDLR_000041,UniProtKB:P01130#VAR_005311
single nucleotide variant	NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr)	LDLR	Likely pathogenic	19	11213417	11213417	G	T	reviewed by expert panel	ClinGen:CA10584820,LDLR-LOVD, British Heart Foundation:LDLR_001675,UniProtKB:P01130#VAR_005312
single nucleotide variant	NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)	LDLR	Pathogenic	19	11213419	11213419	T	A	reviewed by expert panel	ClinGen:CA10584821,LDLR-LOVD, British Heart Foundation:LDLR_001678
single nucleotide variant	NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr)	LDLR	Likely pathogenic	19	11213429	11213429	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584822,LDLR-LOVD, British Heart Foundation:LDLR_000439
single nucleotide variant	NM_000527.5(LDLR):c.283T>A (p.Cys95Ser)	LDLR	Pathogenic/Likely pathogenic	19	11213432	11213432	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584823,LDLR-LOVD, British Heart Foundation:LDLR_000765