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.1301C>G (p.Thr434Arg)	LDLR	Pathogenic	19	11224068	11224068	C	G	reviewed by expert panel	ClinGen:CA10585393,LDLR-LOVD, British Heart Foundation:LDLR_001393
Deletion	NM_000527.5(LDLR):c.1303del (p.Glu435fs)	LDLR	Pathogenic	19	11224069	11224069	CG	C	criteria provided, single submitter	ClinGen:CA10585394,LDLR-LOVD, British Heart Foundation:LDLR_000542
Deletion	NM_000527.5(LDLR):c.1306del (p.Val436fs)	LDLR	Pathogenic	19	11224072	11224072	AG	A	criteria provided, single submitter	ClinGen:CA10585395,LDLR-LOVD, British Heart Foundation:LDLR_001394
Duplication	NM_000527.5(LDLR):c.1309dup (p.Ala437fs)	LDLR	Pathogenic	19	11224076	11224076	T	TG	criteria provided, single submitter	ClinGen:CA10585396,LDLR-LOVD, British Heart Foundation:LDLR_000185
single nucleotide variant	NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)	LDLR	Pathogenic	19	11224089	11224089	T	C	reviewed by expert panel	ClinGen:CA10585400,LDLR-LOVD, British Heart Foundation:LDLR_000186
single nucleotide variant	NM_000527.5(LDLR):c.1324T>A (p.Tyr442Asn)	LDLR	Likely pathogenic	19	11224091	11224091	T	A	criteria provided, single submitter	ClinGen:CA10585402,LDLR-LOVD, British Heart Foundation:LDLR_000969
single nucleotide variant	NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys)	LDLR	Likely pathogenic	19	11224092	11224092	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585404,LDLR-LOVD, British Heart Foundation:LDLR_000193
single nucleotide variant	NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter)	LDLR	Pathogenic	19	11224093	11224093	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585405,LDLR-LOVD, British Heart Foundation:LDLR_000843
single nucleotide variant	NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter)	LDLR	Pathogenic	19	11224095	11224095	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585406,LDLR-LOVD, British Heart Foundation:LDLR_000187
single nucleotide variant	NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter)	LDLR	Pathogenic	19	11224096	11224096	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585408,LDLR-LOVD, British Heart Foundation:LDLR_001398