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.683A>G (p.Glu228Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216265	11216265	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602312
single nucleotide variant	NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11215965	11215965	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602299
single nucleotide variant	NM_000527.5(LDLR):c.377T>C (p.Phe126Ser)	LDLR	Pathogenic/Likely pathogenic	19	11215959	11215959	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602298
single nucleotide variant	NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)	LDLR	Pathogenic/Likely pathogenic	19	11233876	11233876	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654855
Deletion	NM_000527.5(LDLR):c.1911del (p.Asp638fs)	LDLR	Pathogenic/Likely pathogenic	19	11230832	11230832	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654854
Deletion	NM_000527.5(LDLR):c.1878del (p.Ala627fs)	LDLR	Pathogenic/Likely pathogenic	19	11230799	11230799	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654853
single nucleotide variant	NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp)	LDLR	Pathogenic/Likely pathogenic	19	11224022	11224022	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654850
single nucleotide variant	NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)	LDLR	Pathogenic/Likely pathogenic	19	11222231	11222231	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654849
single nucleotide variant	NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11222220	11222220	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654848
single nucleotide variant	NM_000527.5(LDLR):c.1060+2T>G	LDLR	Pathogenic/Likely pathogenic	19	11221449	11221449	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA031575