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.1685G>A (p.Trp562Ter)	LDLR	Pathogenic	19	11226868	11226868	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576312,LDLR-LOVD, British Heart Foundation:LDLR_000421
single nucleotide variant	NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)	LDLR	Pathogenic/Likely pathogenic	19	11226877	11226877	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576313,LDLR-LOVD, British Heart Foundation:LDLR_000394
single nucleotide variant	NM_000527.5(LDLR):c.1705+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11226889	11226889	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576314,LDLR-LOVD, British Heart Foundation:LDLR_000226
Indel	NM_000527.5(LDLR):c.1715_1719delinsA (p.Ser572fs)	LDLR	Pathogenic	19	11227544	11227548	GTGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576315,LDLR-LOVD, British Heart Foundation:LDLR_000494
single nucleotide variant	NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter)	LDLR	Pathogenic	19	11227560	11227560	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576316,LDLR-LOVD, British Heart Foundation:LDLR_001508
single nucleotide variant	NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)	LDLR	Likely pathogenic	19	11227564	11227564	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576317,LDLR-LOVD, British Heart Foundation:LDLR_000561,UniProtKB:P01130#VAR_062382
single nucleotide variant	NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)	LDLR	Likely pathogenic	19	11227643	11227643	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576320,LDLR-LOVD, British Heart Foundation:LDLR_000746
single nucleotide variant	NM_000527.5(LDLR):c.1845+11C>G	LDLR	Pathogenic/Likely pathogenic	19	11227685	11227685	C	G	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001160,ClinGen:CA10576321
single nucleotide variant	NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp)	LDLR	Pathogenic/Likely pathogenic	19	11230802	11230802	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576324,LDLR-LOVD, British Heart Foundation:LDLR_000425
single nucleotide variant	NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	LDLR	Pathogenic/Likely pathogenic	19	11230819	11230819	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576325,LDLR-LOVD, British Heart Foundation:LDLR_001544,UniProtKB:P01130#VAR_005405