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.2407T>C (p.Cys803Arg)	LDLR	Likely pathogenic	19	11240206	11240206	T	C	criteria provided, single submitter	ClinGen:CA16609822
single nucleotide variant	NM_000384.3(APOB):c.409G>T (p.Glu137Ter)	APOB	Pathogenic/Likely pathogenic	2	21260958	21260958	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610575
Duplication	NM_000384.3(APOB):c.5116dup (p.Thr1706fs)	APOB	Pathogenic	2	21234623	21234624	G	GT	criteria provided, single submitter	ClinGen:CA16610703
Deletion	NM_000527.4(LDLR):c.1846-?_2311+?del	LDLR	Pathogenic	19	11230768	11234020	na	na	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000019.9:g.(?_11230768)_(11240346_?)dup	LDLR	Likely pathogenic	19	11230768	11240346	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000019.10:g.(?_11129513)_(11133830_?)del	LDLR	Pathogenic	19	11240189	11244506	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11113278)_(11133830_?)del	LDLR	Pathogenic	19	11223954	11244506	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.1562C>T (p.Ala521Val)	LDLR	Likely pathogenic	19	11224414	11224414	C	T	criteria provided, single submitter	ClinGen:CA034778
Deletion	NM_000527.5(LDLR):c.2001del (p.Cys667fs)	LDLR	Pathogenic	19	11231059	11231059	GT	G	criteria provided, single submitter	ClinGen:CA16616200
Deletion	NM_000527.5(LDLR):c.1272del (p.Asn425fs)	LDLR	Pathogenic	19	11224036	11224036	TC	T	criteria provided, single submitter	ClinGen:CA16616213