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.618T>G (p.Ser206Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216200	11216200	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585015,LDLR-LOVD, British Heart Foundation:LDLR_001773
Deletion	NM_000527.5(LDLR):c.619_639del (p.Gly207_Ser213del)	LDLR	Likely pathogenic	19	11216201	11216221	TGGCGAGTGCATCCACTCCAGC	T	criteria provided, single submitter	ClinGen:CA10585016,LDLR-LOVD, British Heart Foundation:LDLR_001774
single nucleotide variant	NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)	LDLR	Pathogenic/Likely pathogenic	19	11216204	11216204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585018,LDLR-LOVD, British Heart Foundation:LDLR_001775
single nucleotide variant	NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216204	11216204	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585019,LDLR-LOVD, British Heart Foundation:LDLR_001776
Deletion	NM_000527.5(LDLR):c.623_644del (p.Glu208fs)	LDLR	Pathogenic	19	11216205	11216226	GTGGCGAGTGCATCCACTCCAGC	G	criteria provided, single submitter	ClinGen:CA10585020,LDLR-LOVD, British Heart Foundation:LDLR_000636
Duplication	NM_000527.5(LDLR):c.625_626dup (p.Ile210fs)	LDLR	Pathogenic	19	11216207	11216208	A	AGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585021,LDLR-LOVD, British Heart Foundation:LDLR_000988
single nucleotide variant	NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216208	11216208	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585022,LDLR-LOVD, British Heart Foundation:LDLR_000920
single nucleotide variant	NM_000527.5(LDLR):c.629T>A (p.Ile210Asn)	LDLR	Likely pathogenic	19	11216211	11216211	T	A	criteria provided, single submitter	ClinGen:CA10585023,LDLR-LOVD, British Heart Foundation:LDLR_000089
Deletion	NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro)	LDLR	Likely pathogenic	19	11216214	11216216	CACT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585026,LDLR-LOVD, British Heart Foundation:LDLR_001779
single nucleotide variant	NM_000527.5(LDLR):c.641G>C (p.Trp214Ser)	LDLR	Likely pathogenic	19	11216223	11216223	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585028,LDLR-LOVD, British Heart Foundation:LDLR_001780