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.1749_1753del (p.Ser584fs)	LDLR	Pathogenic	19	11227578	11227582	TCACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585597,LDLR-LOVD, British Heart Foundation:LDLR_001517
Deletion	NM_000527.5(LDLR):c.1752del (p.Ile585fs)	LDLR	Pathogenic	19	11227580	11227580	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585599,LDLR-LOVD, British Heart Foundation:LDLR_000743
single nucleotide variant	NM_000527.5(LDLR):c.1754T>A (p.Ile585Asn)	LDLR	Likely pathogenic	19	11227583	11227583	T	A	criteria provided, single submitter	ClinGen:CA10585600,LDLR-LOVD, British Heart Foundation:LDLR_001064
single nucleotide variant	NM_000527.5(LDLR):c.1754T>C (p.Ile585Thr)	LDLR	Likely pathogenic	19	11227583	11227583	T	C	criteria provided, single submitter	ClinGen:CA10585601,LDLR-LOVD, British Heart Foundation:LDLR_001233,UniProtKB:P01130#VAR_072855
Deletion	NM_000527.5(LDLR):c.1756del (p.Ser586fs)	LDLR	Pathogenic	19	11227585	11227585	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585602,LDLR-LOVD, British Heart Foundation:LDLR_000235
Deletion	NM_000527.5(LDLR):c.1759del (p.Ser587fs)	LDLR	Pathogenic	19	11227587	11227587	CA	C	criteria provided, single submitter	ClinGen:CA10585603,LDLR-LOVD, British Heart Foundation:LDLR_000803
Deletion	NM_000527.5(LDLR):c.1766_1767del (p.Asp589fs)	LDLR	Pathogenic	19	11227595	11227596	GAT	G	criteria provided, single submitter	ClinGen:CA10585604,LDLR-LOVD, British Heart Foundation:LDLR_000925
Deletion	NM_000527.5(LDLR):c.1766del (p.Asp589fs)	LDLR	Pathogenic	19	11227595	11227595	GA	G	criteria provided, single submitter	ClinGen:CA10585605,LDLR-LOVD, British Heart Foundation:LDLR_001520
Deletion	NM_000527.5(LDLR):c.1778del (p.Gly593fs)	LDLR	Pathogenic	19	11227603	11227603	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585606,LDLR-LOVD, British Heart Foundation:LDLR_000486
Duplication	NM_000527.5(LDLR):c.1778dup (p.Asn594fs)	LDLR	Pathogenic	19	11227607	11227607	C	CG	criteria provided, single submitter	ClinGen:CA10585607,LDLR-LOVD, British Heart Foundation:LDLR_000664