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.1329G>C (p.Trp443Cys)	LDLR	Pathogenic/Likely pathogenic	19	11224096	11224096	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585409,LDLR-LOVD, British Heart Foundation:LDLR_001399,UniProtKB:P01130#VAR_005389
single nucleotide variant	NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys)	LDLR	Pathogenic/Likely pathogenic	19	11224096	11224096	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585410,LDLR-LOVD, British Heart Foundation:LDLR_000797,UniProtKB:P01130#VAR_005389
Deletion	NM_000527.5(LDLR):c.1336del (p.Leu446fs)	LDLR	Pathogenic	19	11224102	11224102	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585411,LDLR-LOVD, British Heart Foundation:LDLR_001401
single nucleotide variant	NM_000527.5(LDLR):c.1339T>C (p.Ser447Pro)	LDLR	Likely pathogenic	19	11224106	11224106	T	C	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000188,ClinGen:CA10585412
single nucleotide variant	NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)	LDLR	Pathogenic	19	11224109	11224109	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585414,LDLR-LOVD, British Heart Foundation:LDLR_000730
Deletion	NM_000527.5(LDLR):c.1343del (p.Gln448fs)	LDLR	Pathogenic	19	11224110	11224110	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585415,LDLR-LOVD, British Heart Foundation:LDLR_001403
single nucleotide variant	NM_000527.5(LDLR):c.1351A>T (p.Ile451Phe)	LDLR	Likely pathogenic	19	11224118	11224118	A	T	criteria provided, single submitter	ClinGen:CA10585416,LDLR-LOVD, British Heart Foundation:LDLR_000189
single nucleotide variant	NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)	LDLR	Likely pathogenic	19	11224119	11224119	T	C	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000731,UniProtKB:P01130#VAR_062380,ClinGen:CA10585417
single nucleotide variant	NM_000527.5(LDLR):c.1358+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11224126	11224126	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA033778,LDLR-LOVD, British Heart Foundation:LDLR_000341
single nucleotide variant	NM_000527.5(LDLR):c.1358+1G>T	LDLR	Likely pathogenic	19	11224126	11224126	G	T	criteria provided, single submitter	ClinGen:CA10585418,LDLR-LOVD, British Heart Foundation:LDLR_000190