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
Deletion	NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)	APOB	Pathogenic	2	21234474	21234477	CTGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022852,OMIM:107730.0001
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
Deletion	NM_000384.3(APOB):c.5566_5567del (p.Val1856fs)	APOB	Pathogenic	2	21234173	21234174	AAC	A	criteria provided, single submitter	ClinGen:CA022868,OMIM:107730.0004
single nucleotide variant	NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter)	APOB	Pathogenic/Likely pathogenic	2	21233487	21233487	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022883,OMIM:107730.0006
single nucleotide variant	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB	Pathogenic/Likely pathogenic	2	21229160	21229160	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022750,OMIM:107730.0009
Deletion	NM_000384.3(APOB):c.9200del (p.Lys3067fs)	APOB	Pathogenic	2	21230540	21230540	CT	C	criteria provided, single submitter	ClinGen:CA022945,OMIM:107730.0012
single nucleotide variant	NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)	APOB	Pathogenic	2	21232176	21232176	G	A	criteria provided, single submitter	ClinGen:CA022919,OMIM:107730.0015
Deletion	NM_000384.3(APOB):c.11712del (p.Asn3904fs)	APOB	Pathogenic	2	21228028	21228028	TG	T	criteria provided, single submitter	ClinGen:CA022765,OMIM:107730.0016
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.3600T>A (p.Tyr1200Ter)	APOB	Pathogenic	2	21238041	21238041	A	T	criteria provided, single submitter	ClinGen:CA022822,OMIM:107730.0021