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
Deletion	NM_000527.4(LDLR):c.2141-?_2311+?del	LDLR	Pathogenic	19	11233849	11234021	na	na	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.6del (p.Trp4fs)	LDLR	Pathogenic	19	11200227	11200227	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576266,LDLR-LOVD, British Heart Foundation:LDLR_001825
single nucleotide variant	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	LDLR	Pathogenic	19	11210912	11210912	C	G	reviewed by expert panel	ClinGen:CA041664,LDLR-LOVD, British Heart Foundation:LDLR_000352,UniProtKB:P01130#VAR_005304
single nucleotide variant	NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)	LDLR	Pathogenic	19	11210913	11210913	G	T	criteria provided, single submitter	ClinGen:CA10576267,LDLR-LOVD, British Heart Foundation:LDLR_000023
single nucleotide variant	NM_000527.5(LDLR):c.191-2A>G	LDLR	Pathogenic/Likely pathogenic	19	11213338	11213338	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576268,LDLR-LOVD, British Heart Foundation:LDLR_001549
Deletion	NM_000527.5(LDLR):c.196_197del (p.Val66fs)	LDLR	Pathogenic	19	11213345	11213346	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576269,LDLR-LOVD, British Heart Foundation:LDLR_000034
single nucleotide variant	NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)	LDLR	Likely pathogenic	19	11213373	11213373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576270,LDLR-LOVD, British Heart Foundation:LDLR_000686
single nucleotide variant	NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)	LDLR	Pathogenic	19	11213395	11213395	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576271,LDLR-LOVD, British Heart Foundation:LDLR_000983
single nucleotide variant	NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)	LDLR	Pathogenic	19	11213402	11213402	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576273,LDLR-LOVD, British Heart Foundation:LDLR_000037
single nucleotide variant	NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11213415	11213415	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576274,LDLR-LOVD, British Heart Foundation:LDLR_001674,UniProtKB:P01130#VAR_005309