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.1061-1G>C	LDLR	Pathogenic/Likely pathogenic	19	11222189	11222189	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585280,LDLR-LOVD, British Heart Foundation:LDLR_000496
single nucleotide variant	NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala)	LDLR	Likely pathogenic	19	11222190	11222190	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585281,LDLR-LOVD, British Heart Foundation:LDLR_000155
single nucleotide variant	NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)	LDLR	Pathogenic/Likely pathogenic	19	11222190	11222190	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585282,LDLR-LOVD, British Heart Foundation:LDLR_001346,UniProtKB:P01130#VAR_005371
Duplication	NM_000527.5(LDLR):c.1062dup (p.Ile355fs)	LDLR	Pathogenic	19	11222191	11222191	A	AT	criteria provided, single submitter	ClinGen:CA10585284,LDLR-LOVD, British Heart Foundation:LDLR_000941
single nucleotide variant	NM_000527.5(LDLR):c.1067A>C (p.Asp356Ala)	LDLR	Likely pathogenic	19	11222196	11222196	A	C	reviewed by expert panel	ClinGen:CA10585287,LDLR-LOVD, British Heart Foundation:LDLR_001347
Deletion	NM_000527.5(LDLR):c.1067del (p.Asp356fs)	LDLR	Pathogenic	19	11222196	11222196	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585288,LDLR-LOVD, British Heart Foundation:LDLR_000319
single nucleotide variant	NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)	LDLR	Likely pathogenic	19	11222198	11222198	G	A	reviewed by expert panel	ClinGen:CA10585290,LDLR-LOVD, British Heart Foundation:LDLR_001350,UniProtKB:P01130#VAR_005372
Duplication	NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup)	LDLR	Likely pathogenic	19	11222198	11222215	T	TGAGTGTCAGGATCCCGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585291,LDLR-LOVD, British Heart Foundation:LDLR_001349
Duplication	NM_000527.5(LDLR):c.1070_1073dup (p.Cys358Ter)	LDLR	Pathogenic	19	11222199	11222202	A	ATGAG	criteria provided, single submitter	ClinGen:CA10585292,LDLR-LOVD, British Heart Foundation:LDLR_001050
single nucleotide variant	NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg)	LDLR	Likely pathogenic	19	11222201	11222201	T	C	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000996,ClinGen:CA10585293