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_000527.5(LDLR):c.681C>A (p.Asp227Glu)	LDLR	Pathogenic/Likely pathogenic	19	11216263	11216263	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609806
Deletion	NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)	LDLR	Pathogenic/Likely pathogenic	19	11216263	11216274	ACGAGGAAAACTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609807
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_000527.5(LDLR):c.1678A>T (p.Ile560Phe)	LDLR	Pathogenic/Likely pathogenic	19	11226861	11226861	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404089351
single nucleotide variant	NM_000527.5(LDLR):c.67+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11200292	11200292	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA085807
Deletion	NM_000384.3(APOB):c.10238del (p.Thr3413fs)	APOB	Pathogenic/Likely pathogenic	2	21229502	21229502	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA042812
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
single nucleotide variant	NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn)	APOB	Pathogenic/Likely pathogenic	2	21229558	21229558	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345987169
single nucleotide variant	NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)	LDLR	Pathogenic/Likely pathogenic	19	11222259	11222259	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404083621
single nucleotide variant	NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)	LDLR	Pathogenic/Likely pathogenic	19	11211003	11211003	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404075029