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_000384.3(APOB):c.819-2A>G	APOB	Likely pathogenic	2	21257775	21257775	T	C	criteria provided, single submitter	OMIM:107730.0018
single nucleotide variant	NM_000384.3(APOB):c.1830-1G>A	APOB	Pathogenic	2	21250938	21250938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346013946
Duplication	NM_000384.3(APOB):c.2786dup (p.Arg931fs)	APOB	Pathogenic	2	21245732	21245733	T	TG	criteria provided, single submitter	ClinGen:CA645509053
Deletion	NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)	APOB	Likely pathogenic	2	21242600	21242606	TGTCCCCG	T	criteria provided, single submitter	ClinGen:CA16043653
Deletion	NM_000384.3(APOB):c.3012del (p.Glu1004fs)	APOB	Pathogenic	2	21241973	21241973	GT	G	criteria provided, single submitter	ClinGen:CA645372356
single nucleotide variant	NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter)	APOB	Pathogenic	2	21238041	21238041	A	T	criteria provided, single submitter	ClinGen:CA022822,OMIM:107730.0021
single nucleotide variant	NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter)	APOB	Pathogenic	2	21236251	21236251	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022827,OMIM:107730.0003
single nucleotide variant	NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter)	APOB	Pathogenic	2	21236159	21236159	G	T	criteria provided, single submitter	ClinGen:CA346007651
single nucleotide variant	NM_000384.3(APOB):c.4471A>T (p.Arg1491Ter)	APOB	Likely pathogenic	2	21235269	21235269	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter)	APOB	Pathogenic	2	21235237	21235237	A	C	criteria provided, single submitter	-