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.2140+2T>A	LDLR	Likely pathogenic	19	11231200	11231200	T	A	criteria provided, single submitter	ClinGen:CA10585789,LDLR-LOVD, British Heart Foundation:LDLR_000452
single nucleotide variant	NM_000527.5(LDLR):c.2140+2T>C	LDLR	Pathogenic/Likely pathogenic	19	11231200	11231200	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585790,LDLR-LOVD, British Heart Foundation:LDLR_001610
single nucleotide variant	NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter)	LDLR	Pathogenic	19	11233873	11233873	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585795,LDLR-LOVD, British Heart Foundation:LDLR_001080
Deletion	NM_000527.5(LDLR):c.2167del (p.Glu723fs)	LDLR	Pathogenic	19	11233875	11233875	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585796,LDLR-LOVD, British Heart Foundation:LDLR_000769
Deletion	NM_000527.5(LDLR):c.2175del (p.Thr726fs)	LDLR	Pathogenic	19	11233883	11233883	TC	T	criteria provided, single submitter	ClinGen:CA10585798,LDLR-LOVD, British Heart Foundation:LDLR_000286
Deletion	NM_000527.5(LDLR):c.2178del (p.Val727fs)	LDLR	Pathogenic	19	11233886	11233886	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585799,LDLR-LOVD, British Heart Foundation:LDLR_001081
Deletion	NM_000527.5(LDLR):c.2184del (p.Arg728fs)	LDLR	Pathogenic	19	11233892	11233892	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585800,LDLR-LOVD, British Heart Foundation:LDLR_000854
Duplication	NM_000527.5(LDLR):c.2186dup (p.Val731fs)	LDLR	Pathogenic	19	11233895	11233895	C	CT	criteria provided, single submitter	ClinGen:CA10585801,LDLR-LOVD, British Heart Foundation:LDLR_001082
Deletion	NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs)	LDLR	Pathogenic	19	11233896	11233906	GGCTAAAGGTCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585802,LDLR-LOVD, British Heart Foundation:LDLR_000287
Duplication	NM_000527.5(LDLR):c.2191_2203dup (p.Ala735fs)	LDLR	Pathogenic	19	11233900	11233912	A	AAGGTCAGCTCCAC	criteria provided, single submitter	ClinGen:CA10585803,LDLR-LOVD, British Heart Foundation:LDLR_001083