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
Duplication	NM_000384.3(APOB):c.5116dup (p.Thr1706fs)	APOB	Pathogenic	2	21234623	21234624	G	GT	criteria provided, single submitter	ClinGen:CA16610703
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
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.13158del (p.Glu4387fs)	APOB	Pathogenic	2	21225136	21225136	CT	C	criteria provided, single submitter	ClinGen:CA10588883
Deletion	NM_000384.3(APOB):c.9523del (p.Ala3175fs)	APOB	Pathogenic	2	21230217	21230217	GC	G	criteria provided, single submitter	ClinGen:CA10581913
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.13025del (p.Pro4342fs)	APOB	Likely pathogenic	2	21225269	21225269	TG	T	criteria provided, single submitter	ClinGen:CA210931
single nucleotide variant	NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter)	APOB	Pathogenic	2	21232203	21232203	G	A	criteria provided, multiple submitters, no conflicts	-
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.819-2A>G	APOB	Likely pathogenic	2	21257775	21257775	T	C	criteria provided, single submitter	OMIM:107730.0018