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.1133A>C (p.Gln378Pro)	LDLR	Likely pathogenic	19	11222262	11222262	A	C	reviewed by expert panel	ClinGen:CA023422,LDLR-LOVD, British Heart Foundation:LDLR_000162
single nucleotide variant	NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	LDLR	Likely pathogenic	19	11221390	11221390	G	A	reviewed by expert panel	ClinGen:CA023402,LDLR-LOVD, British Heart Foundation:LDLR_001318,UniProtKB:P01130#VAR_005363
single nucleotide variant	NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	LDLR	Likely pathogenic	19	11218096	11218096	C	A	reviewed by expert panel	ClinGen:CA023778,LDLR-LOVD, British Heart Foundation:LDLR_001846
single nucleotide variant	NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	LDLR	Likely pathogenic	19	11213390	11213390	C	T	reviewed by expert panel	ClinGen:CA023666,LDLR-LOVD, British Heart Foundation:LDLR_001647
single nucleotide variant	NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)	LDLR	Likely pathogenic	19	11240274	11240274	C	G	reviewed by expert panel	ClinGen:CA023675,LDLR-LOVD, British Heart Foundation:LDLR_001654,UniProtKB:P01130#VAR_072861
single nucleotide variant	NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	LDLR	Likely pathogenic	19	11224005	11224005	C	T	reviewed by expert panel	ClinGen:CA023439,LDLR-LOVD, British Heart Foundation:LDLR_000967
single nucleotide variant	NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)	LDLR	Likely pathogenic	19	11215944	11215944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023699,LDLR-LOVD, British Heart Foundation:LDLR_001712
single nucleotide variant	NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)	LDLR	Likely pathogenic	19	11224058	11224058	G	C	reviewed by expert panel	ClinGen:CA023446
single nucleotide variant	NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	LDLR	Likely pathogenic	19	11223989	11223989	G	A	reviewed by expert panel	ClinGen:CA023437,LDLR-LOVD, British Heart Foundation:LDLR_001379,UniProtKB:P01130#VAR_005378
single nucleotide variant	NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	LDLR	Likely pathogenic	19	11221442	11221442	G	A	reviewed by expert panel	LDLR-LOVD, British Heart Foundation:LDLR_001339,UniProtKB:P01130#VAR_005369,ClinGen:CA023408