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_015627.3(LDLRAP1):c.429C>A (p.Cys143Ter)	LDLRAP1	Pathogenic	1	25883728	25883728	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter)	LDLRAP1	Pathogenic	1	25883705	25883705	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117070,OMIM:605747.0003
single nucleotide variant	NM_015627.3(LDLRAP1):c.89-1G>C	LDLRAP1	Pathogenic	1	25880412	25880412	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA695429,OMIM:605747.0007
Deletion	NM_015627.3(LDLRAP1):c.71del (p.Gly24fs)	LDLRAP1	Pathogenic	1	25870254	25870254	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA521715353,OMIM:605747.0006
single nucleotide variant	NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter)	LDLRAP1	Pathogenic	1	25870254	25870254	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117067,OMIM:605747.0001
Deletion	NM_000384.3(APOB):c.39del (p.Leu14fs)	APOB	Pathogenic	2	21266779	21266779	GC	G	criteria provided, single submitter	ClinGen:CA645372357
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
single nucleotide variant	NM_000384.3(APOB):c.631C>T (p.Gln211Ter)	APOB	Likely pathogenic	2	21260034	21260034	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576587
Deletion	NM_000384.3(APOB):c.671del (p.Pro224fs)	APOB	Pathogenic	2	21259994	21259994	TG	T	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_21001710)_(21035728_?)del	APOB	Pathogenic	2	21224582	21258600	na	na	criteria provided, single submitter	-