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
Duplication	NM_000527.5(LDLR):c.33_36dup (p.Ala13fs)	LDLR	Pathogenic	19	11200257	11200260	A	ACCGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584728,LDLR-LOVD, British Heart Foundation:LDLR_001703
Deletion	NM_000527.5(LDLR):c.41del (p.Leu14fs)	LDLR	Pathogenic	19	11200264	11200264	CT	C	criteria provided, single submitter	ClinGen:CA10584729,LDLR-LOVD, British Heart Foundation:LDLR_000011
Duplication	NM_000527.5(LDLR):c.41dup (p.Leu14fs)	LDLR	Pathogenic	19	11200265	11200265	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584730,LDLR-LOVD, British Heart Foundation:LDLR_001132
single nucleotide variant	NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	LDLR	Likely pathogenic	19	11200268	11200268	T	C	reviewed by expert panel	ClinGen:CA10584732,LDLR-LOVD, British Heart Foundation:LDLR_001011
Deletion	NM_000527.5(LDLR):c.64del (p.Ala22fs)	LDLR	Pathogenic	19	11200288	11200288	TG	T	criteria provided, single submitter	ClinGen:CA10584736,LDLR-LOVD, British Heart Foundation:LDLR_001786
single nucleotide variant	NM_000527.5(LDLR):c.67+2T>A	LDLR	Pathogenic/Likely pathogenic	19	11200293	11200293	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584737,LDLR-LOVD, British Heart Foundation:LDLR_000877
Duplication	NM_000527.4(LDLR):c.67+3968_940+296dup	LDLR	Pathogenic/Likely pathogenic	19	11204259	11218486	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000017
Deletion	c.67+4761_818-332del	LDLR	Pathogenic	19	11205052	11217736	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001801
Deletion	NM_000527.5(LDLR):c.68-5_68-2del	LDLR	Likely pathogenic	19	11210894	11210897	TCTCA	T	criteria provided, single submitter	ClinGen:CA10584739,LDLR-LOVD, British Heart Foundation:LDLR_000461
single nucleotide variant	NM_000527.5(LDLR):c.68-2A>G	LDLR	Pathogenic/Likely pathogenic	19	11210897	11210897	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584740,LDLR-LOVD, British Heart Foundation:LDLR_000016