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
Deletion	NM_000527.5(LDLR):c.568_590del (p.Phe190fs)	LDLR	Pathogenic	19	11216150	11216172	GTGTTCCAAGGGGACAGTAGCCCC	G	criteria provided, single submitter	ClinGen:CA10584992,LDLR-LOVD, British Heart Foundation:LDLR_000398
single nucleotide variant	NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)	LDLR	Pathogenic	19	11216153	11216153	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584993,LDLR-LOVD, British Heart Foundation:LDLR_000654
Deletion	NM_000527.5(LDLR):c.578_584del (p.Asp193fs)	LDLR	Pathogenic	19	11216160	11216166	GGACAGTA	G	criteria provided, single submitter	ClinGen:CA10584994,LDLR-LOVD, British Heart Foundation:LDLR_000993
Deletion	NM_000527.5(LDLR):c.578del (p.Asp193fs)	LDLR	Pathogenic	19	11216160	11216160	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584995,LDLR-LOVD, British Heart Foundation:LDLR_001221
Insertion	NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)	LDLR	Pathogenic	19	11216163	11216164	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584996,LDLR-LOVD, British Heart Foundation:LDLR_000080
Deletion	NM_000527.5(LDLR):c.583_589del (p.Ser195fs)	LDLR	Pathogenic	19	11216165	11216171	GTAGCCCC	G	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000399,ClinGen:CA10584997
single nucleotide variant	NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216171	11216171	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584999,LDLR-LOVD, British Heart Foundation:LDLR_001765
single nucleotide variant	NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)	LDLR	Likely pathogenic	19	11216172	11216172	G	T	reviewed by expert panel	ClinGen:CA044039,LDLR-LOVD, British Heart Foundation:LDLR_000082,UniProtKB:P01130#VAR_005328
single nucleotide variant	NM_000527.5(LDLR):c.591C>A (p.Cys197Ter)	LDLR	Pathogenic	19	11216173	11216173	C	A	criteria provided, single submitter	ClinGen:CA10585000,LDLR-LOVD, British Heart Foundation:LDLR_000083
single nucleotide variant	NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)	LDLR	Pathogenic/Likely pathogenic	19	11216173	11216173	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585001,LDLR-LOVD, British Heart Foundation:LDLR_000084