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_000527.5(LDLR):c.97C>T (p.Gln33Ter)	LDLR	Pathogenic	19	11210928	11210928	C	T	reviewed by expert panel	ClinGen:CA023802,LDLR-LOVD, British Heart Foundation:LDLR_001896,OMIM:606945.0001
single nucleotide variant	NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	LDLR	Pathogenic	19	11213408	11213408	T	G	reviewed by expert panel	ClinGen:CA023683,LDLR-LOVD, British Heart Foundation:LDLR_001671,UniProtKB:P01130#VAR_005308,OMIM:606945.0003
single nucleotide variant	NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	LDLR	Pathogenic	19	11216112	11216112	C	T	reviewed by expert panel	ClinGen:CA023715,LDLR-LOVD, British Heart Foundation:LDLR_001756,UniProtKB:P01130#VAR_005327,OMIM:606945.0004
single nucleotide variant	NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)	LDLR	Pathogenic/Likely pathogenic	19	11226877	11226877	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023553,LDLR-LOVD, British Heart Foundation:LDLR_000424,UniProtKB:P01130#VAR_005401,OMIM:606945.0014
single nucleotide variant	NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)	LDLR	Likely pathogenic	19	11231058	11231058	G	A	reviewed by expert panel	ClinGen:CA023621,LDLR-LOVD, British Heart Foundation:LDLR_000274,UniProtKB:P01130#VAR_005407,OMIM:606945.0015
single nucleotide variant	NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	LDLR	Pathogenic/Likely pathogenic	19	11216263	11216263	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023747,LDLR-LOVD, British Heart Foundation:LDLR_001815,UniProtKB:P01130#VAR_005338,OMIM:606945.0006
single nucleotide variant	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	LDLR	Pathogenic	19	11216264	11216264	G	A	reviewed by expert panel	ClinGen:CA023749,LDLR-LOVD, British Heart Foundation:LDLR_000105,UniProtKB:P01130#VAR_005341,OMIM:606945.0007
single nucleotide variant	NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	LDLR	Pathogenic	19	11218160	11218160	G	A	reviewed by expert panel	UniProtKB:P01130#VAR_005355,OMIM:606945.0008,ClinGen:CA023792,LDLR-LOVD, British Heart Foundation:LDLR_001861