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.381T>A (p.Ser127Arg)	PCSK9	Pathogenic/Likely pathogenic	1	55509689	55509689	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023152,UniProtKB:Q8NBP7#VAR_017199,OMIM:607786.0001
single nucleotide variant	NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)	PCSK9	Pathogenic/Likely pathogenic	1	55523127	55523127	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023106,UniProtKB:Q8NBP7#VAR_058532,OMIM:607786.0003
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
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
single nucleotide variant	NM_015627.3(LDLRAP1):c.459+2T>G	LDLRAP1	Likely pathogenic	1	25883760	25883760	T	G	criteria provided, single submitter	ClinGen:CA339078818,OMIM:605747.0008
Duplication	NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)	LDLRAP1	Pathogenic	1	25889626	25889627	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA695637,OMIM:605747.0009
single nucleotide variant	NM_174936.4(PCSK9):c.1120G>C (p.Asp374His)	PCSK9	Pathogenic	1	55523127	55523127	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588875,UniProtKB:Q8NBP7#VAR_058531
Insertion	NM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs)	PCSK9	Pathogenic	1	55505552	55505553	A	ATG	criteria provided, single submitter	ClinGen:CA645372371
single nucleotide variant	NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly)	PCSK9	Pathogenic/Likely pathogenic	1	55509694	55509694	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340483865