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.1860G>A (p.Trp620Ter)	LDLR	Pathogenic	19	11230782	11230782	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585659,LDLR-LOVD, British Heart Foundation:LDLR_001536
single nucleotide variant	NM_000527.5(LDLR):c.1860G>C (p.Trp620Cys)	LDLR	Likely pathogenic	19	11230782	11230782	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585660,LDLR-LOVD, British Heart Foundation:LDLR_000867
Duplication	NM_000527.5(LDLR):c.1860dup (p.Thr621fs)	LDLR	Pathogenic	19	11230782	11230782	T	TG	criteria provided, single submitter	ClinGen:CA10585661,LDLR-LOVD, British Heart Foundation:LDLR_001110
single nucleotide variant	NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg)	LDLR	Pathogenic/Likely pathogenic	19	11230784	11230784	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585662,LDLR-LOVD, British Heart Foundation:LDLR_001538
single nucleotide variant	NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn)	LDLR	Pathogenic/Likely pathogenic	19	11230786	11230786	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585663,LDLR-LOVD, British Heart Foundation:LDLR_000909
single nucleotide variant	NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala)	LDLR	Likely pathogenic	19	11230787	11230787	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585664,LDLR-LOVD, British Heart Foundation:LDLR_001154
Deletion	NM_000527.5(LDLR):c.1872del (p.Asn625fs)	LDLR	Pathogenic	19	11230794	11230794	TC	T	criteria provided, single submitter	ClinGen:CA10585668,LDLR-LOVD, British Heart Foundation:LDLR_000970
Deletion	NM_000527.5(LDLR):c.1876del (p.Glu626fs)	LDLR	Pathogenic	19	11230798	11230798	CG	C	criteria provided, single submitter	ClinGen:CA10585670,LDLR-LOVD, British Heart Foundation:LDLR_000904
single nucleotide variant	NM_000527.5(LDLR):c.1880C>T (p.Ala627Val)	LDLR	Likely pathogenic	19	11230802	11230802	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585672,LDLR-LOVD, British Heart Foundation:LDLR_000658
single nucleotide variant	NM_000527.5(LDLR):c.1886T>G (p.Phe629Cys)	LDLR	Likely pathogenic	19	11230808	11230808	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585674,LDLR-LOVD, British Heart Foundation:LDLR_001541