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.1813C>T (p.Leu605=)	LDLR	Pathogenic/Likely pathogenic	19	11227642	11227642	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585625,LDLR-LOVD, British Heart Foundation:LDLR_001232
Deletion	NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs)	LDLR	Pathogenic	19	11227644	11227654	GCTGGCCCACCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585626,LDLR-LOVD, British Heart Foundation:LDLR_000850
single nucleotide variant	NM_000527.5(LDLR):c.1820A>G (p.His607Arg)	LDLR	Likely pathogenic	19	11227649	11227649	A	G	criteria provided, single submitter	ClinGen:CA10585627,LDLR-LOVD, British Heart Foundation:LDLR_000244
single nucleotide variant	NM_000527.5(LDLR):c.1822C>A (p.Pro608Thr)	LDLR	Likely pathogenic	19	11227651	11227651	C	A	criteria provided, single submitter	ClinGen:CA10585628,LDLR-LOVD, British Heart Foundation:LDLR_000245
single nucleotide variant	NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)	LDLR	Pathogenic/Likely pathogenic	19	11227651	11227651	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585629,LDLR-LOVD, British Heart Foundation:LDLR_000662,UniProtKB:P01130#VAR_007989
single nucleotide variant	NM_000527.5(LDLR):c.1823C>G (p.Pro608Arg)	LDLR	Likely pathogenic	19	11227652	11227652	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585630,LDLR-LOVD, British Heart Foundation:LDLR_000568
single nucleotide variant	NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)	LDLR	Likely pathogenic	19	11227652	11227652	C	T	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000393,ClinGen:CA10585631
single nucleotide variant	NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys)	LDLR	Likely pathogenic	19	11227658	11227658	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585633,LDLR-LOVD, British Heart Foundation:LDLR_001211
single nucleotide variant	NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)	LDLR	Pathogenic/Likely pathogenic	19	11227658	11227658	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585634,LDLR-LOVD, British Heart Foundation:LDLR_001529
Deletion	NM_000527.5(LDLR):c.1829_1831del (p.Ser610del)	LDLR	Pathogenic/Likely pathogenic	19	11227658	11227660	TCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585635,LDLR-LOVD, British Heart Foundation:LDLR_001528