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.41T>A (p.Leu14Ter)	LDLR	Pathogenic	19	11200265	11200265	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.973T>C (p.Cys325Arg)	LDLR	Likely pathogenic	19	11221360	11221360	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.922G>T (p.Glu308Ter)	LDLR	Pathogenic	19	11218172	11218172	G	T	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.505_511del (p.Asn169fs)	LDLR	Pathogenic	19	11216086	11216092	ACAACGAC	A	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.244_246del (p.Cys82del)	LDLR	Likely pathogenic	19	11213391	11213393	CGCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.30G>A (p.Trp10Ter)	LDLR	Pathogenic	19	11200254	11200254	G	A	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.772del (p.Glu258fs)	LDLR	Likely pathogenic	19	11217316	11217316	CG	C	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.1011_1025del (p.Glu337_Pro341del)	LDLR	Likely pathogenic	19	11221395	11221409	ACGAGTGCCTGTGCCC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.694+1G>C	LDLR	Pathogenic	19	11216277	11216277	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000527.5(LDLR):c.1851del (p.Val618fs)	LDLR	Pathogenic	19	11230771	11230771	CA	C	criteria provided, multiple submitters, no conflicts	-