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.1846-2A>C	LDLR	Likely pathogenic	19	11230766	11230766	A	C	criteria provided, single submitter	ClinGen:CA10585650,LDLR-LOVD, British Heart Foundation:LDLR_000253
single nucleotide variant	NM_000527.5(LDLR):c.1846-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11230767	11230767	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585651,LDLR-LOVD, British Heart Foundation:LDLR_000254
single nucleotide variant	NM_000527.5(LDLR):c.1846-1G>C	LDLR	Likely pathogenic	19	11230767	11230767	G	C	criteria provided, single submitter	ClinGen:CA10585652,LDLR-LOVD, British Heart Foundation:LDLR_001235
Deletion	NM_000527.5(LDLR):c.1853_1864del (p.Val618_Thr621del)	LDLR	Likely pathogenic	19	11230775	11230786	AAGTATTTTGGAC	A	criteria provided, single submitter	ClinGen:CA10585653,LDLR-LOVD, British Heart Foundation:LDLR_000255
single nucleotide variant	NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)	LDLR	Likely pathogenic	19	11230777	11230777	T	C	reviewed by expert panel	ClinGen:CA037227,LDLR-LOVD, British Heart Foundation:LDLR_000570
Insertion	NM_000527.5(LDLR):c.1855_1856insA (p.Phe619fs)	LDLR	Pathogenic	19	11230777	11230778	T	TA	criteria provided, single submitter	ClinGen:CA10585654,LDLR-LOVD, British Heart Foundation:LDLR_000916
single nucleotide variant	NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser)	LDLR	Likely pathogenic	19	11230778	11230778	T	C	reviewed by expert panel	ClinGen:CA10585655,LDLR-LOVD, British Heart Foundation:LDLR_000747
single nucleotide variant	NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys)	LDLR	Likely pathogenic	19	11230778	11230778	T	G	reviewed by expert panel	ClinGen:CA10585656,LDLR-LOVD, British Heart Foundation:LDLR_001535
single nucleotide variant	NM_000527.5(LDLR):c.1858T>C (p.Trp620Arg)	LDLR	Likely pathogenic	19	11230780	11230780	T	C	criteria provided, single submitter	ClinGen:CA10585657,LDLR-LOVD, British Heart Foundation:LDLR_000571
single nucleotide variant	NM_000527.5(LDLR):c.1859G>A (p.Trp620Ter)	LDLR	Pathogenic	19	11230781	11230781	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585658,LDLR-LOVD, British Heart Foundation:LDLR_001208