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.1886del (p.Phe629fs)	LDLR	Pathogenic	19	11230805	11230805	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585675,LDLR-LOVD, British Heart Foundation:LDLR_000261
single nucleotide variant	NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp)	LDLR	Likely pathogenic	19	11230814	11230814	C	A	criteria provided, single submitter	ClinGen:CA10585676,LDLR-LOVD, British Heart Foundation:LDLR_001072
single nucleotide variant	NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu)	LDLR	Likely pathogenic	19	11230820	11230820	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585677,LDLR-LOVD, British Heart Foundation:LDLR_001074
single nucleotide variant	NM_000527.5(LDLR):c.1904C>T (p.Thr635Ile)	LDLR	Likely pathogenic	19	11230826	11230826	C	T	criteria provided, single submitter	ClinGen:CA10585678,LDLR-LOVD, British Heart Foundation:LDLR_001546
single nucleotide variant	NM_000527.5(LDLR):c.1916T>G (p.Val639Gly)	LDLR	Likely pathogenic	19	11230838	11230838	T	G	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001551,ClinGen:CA10585680
single nucleotide variant	NM_000527.5(LDLR):c.1925T>C (p.Leu642Ser)	LDLR	Likely pathogenic	19	11230847	11230847	T	C	criteria provided, single submitter	ClinGen:CA10585681,LDLR-LOVD, British Heart Foundation:LDLR_000945
Duplication	NM_000527.5(LDLR):c.1934dup (p.Asn645fs)	LDLR	Pathogenic	19	11230856	11230856	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585684,LDLR-LOVD, British Heart Foundation:LDLR_001554
Insertion	NM_000527.5(LDLR):c.1935_1936insA (p.Leu646fs)	LDLR	Pathogenic	19	11230857	11230858	C	CA	criteria provided, single submitter	ClinGen:CA10585685,LDLR-LOVD, British Heart Foundation:LDLR_001555
Deletion	NM_000527.5(LDLR):c.1936del (p.Leu646fs)	LDLR	Pathogenic	19	11230857	11230857	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585686,LDLR-LOVD, British Heart Foundation:LDLR_000262
single nucleotide variant	NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro)	LDLR	Likely pathogenic	19	11230864	11230864	T	C	reviewed by expert panel	ClinGen:CA10585687,LDLR-LOVD, British Heart Foundation:LDLR_001557