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_174936.4(PCSK9):c.1061A>T (p.Asn354Ile)	PCSK9	Likely pathogenic	1	55523068	55523068	A	T	criteria provided, single submitter	ClinGen:CA340476503
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.429C>A (p.Cys143Ter)	LDLRAP1	Pathogenic	1	25883728	25883728	C	A	criteria provided, single submitter	-
Duplication	NM_015627.3(LDLRAP1):c.431dup (p.His144fs)	LDLRAP1	Pathogenic	1	25883729	25883730	C	CA	criteria provided, multiple submitters, no conflicts	-
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