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.373C>T (p.Gln125Ter)	LDLR	Pathogenic	19	11215955	11215955	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584886,LDLR-LOVD, British Heart Foundation:LDLR_000404
Insertion	NM_000527.5(LDLR):c.374_375insCTGA (p.Gln125delinsHisTer)	LDLR	Pathogenic	19	11215956	11215957	C	CACTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584887,LDLR-LOVD, British Heart Foundation:LDLR_001717
single nucleotide variant	NM_000527.5(LDLR):c.376T>C (p.Phe126Leu)	LDLR	Likely pathogenic	19	11215958	11215958	T	C	criteria provided, single submitter	ClinGen:CA10584888,LDLR-LOVD, British Heart Foundation:LDLR_001718
single nucleotide variant	NM_000527.5(LDLR):c.377T>A (p.Phe126Tyr)	LDLR	Likely pathogenic	19	11215959	11215959	T	A	criteria provided, single submitter	ClinGen:CA10584889,LDLR-LOVD, British Heart Foundation:LDLR_001130
single nucleotide variant	NM_000527.5(LDLR):c.380T>A (p.Val127Asp)	LDLR	Likely pathogenic	19	11215962	11215962	T	A	criteria provided, single submitter	ClinGen:CA10584890,LDLR-LOVD, British Heart Foundation:LDLR_001719
single nucleotide variant	NM_000527.5(LDLR):c.382T>C (p.Cys128Arg)	LDLR	Pathogenic/Likely pathogenic	19	11215964	11215964	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584891,LDLR-LOVD, British Heart Foundation:LDLR_001721
Deletion	NM_000527.5(LDLR):c.382_385del (p.Cys128fs)	LDLR	Pathogenic	19	11215964	11215967	CTGTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584892,LDLR-LOVD, British Heart Foundation:LDLR_001720
single nucleotide variant	NM_000527.5(LDLR):c.383G>T (p.Cys128Phe)	LDLR	Likely pathogenic	19	11215965	11215965	G	T	criteria provided, single submitter	ClinGen:CA10584893,LDLR-LOVD, British Heart Foundation:LDLR_001722
single nucleotide variant	NM_000527.5(LDLR):c.386A>G (p.Asp129Gly)	LDLR	Likely pathogenic	19	11215968	11215968	A	G	criteria provided, single submitter	ClinGen:CA10584894,LDLR-LOVD, British Heart Foundation:LDLR_000859
single nucleotide variant	NM_000527.5(LDLR):c.389C>G (p.Ser130Ter)	LDLR	Pathogenic	19	11215971	11215971	C	G	criteria provided, single submitter	ClinGen:CA10584897,LDLR-LOVD, British Heart Foundation:LDLR_001144