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.1987+2T>G	LDLR	Pathogenic/Likely pathogenic	19	11230911	11230911	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000384.3(APOB):c.6543del (p.Phe2181fs)	APOB	Pathogenic/Likely pathogenic	2	21233197	21233197	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter)	LDLR	Pathogenic/Likely pathogenic	19	11226842	11226842	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404089214
single nucleotide variant	NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)	LDLR	Pathogenic/Likely pathogenic	19	11218170	11218170	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404081052
single nucleotide variant	NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)	LDLR	Pathogenic/Likely pathogenic	19	11216266	11216266	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA404079085
Duplication	NM_000527.5(LDLR):c.1808dup (p.Arg604fs)	LDLR	Pathogenic/Likely pathogenic	19	11227633	11227634	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799141
Deletion	NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs)	LDLR	Pathogenic/Likely pathogenic	19	11233942	11234000	ACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799127
Duplication	NM_000527.5(LDLR):c.1867dup (p.Ile623fs)	LDLR	Pathogenic/Likely pathogenic	19	11230788	11230789	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684220
single nucleotide variant	NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)	LDLR	Pathogenic/Likely pathogenic	19	11211003	11211003	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404075029
single nucleotide variant	NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)	LDLR	Pathogenic/Likely pathogenic	19	11222259	11222259	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404083621