家族性高コレステロール血症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.768C>G (p.Asp256Glu)	LDLR	Likely pathogenic	19	11217314	11217314	C	G	criteria provided, single submitter	ClinGen:CA10585125,LDLR-LOVD, British Heart Foundation:LDLR_000502
single nucleotide variant	NM_000527.5(LDLR):c.772G>T (p.Glu258Ter)	LDLR	Pathogenic	19	11217318	11217318	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585128,LDLR-LOVD, British Heart Foundation:LDLR_000631
Deletion	NM_000527.5(LDLR):c.781del (p.Cys261fs)	LDLR	Pathogenic	19	11217327	11217327	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585130,LDLR-LOVD, British Heart Foundation:LDLR_001839
Deletion	NM_000527.5(LDLR):c.790_793del (p.Met264fs)	LDLR	Pathogenic	19	11217336	11217339	CATGA	C	criteria provided, single submitter	ClinGen:CA10585132,LDLR-LOVD, British Heart Foundation:LDLR_000362
single nucleotide variant	NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)	LDLR	Pathogenic	19	11217342	11217342	G	T	reviewed by expert panel	ClinGen:CA10585134,LDLR-LOVD, British Heart Foundation:LDLR_000503
Deletion	NM_000527.5(LDLR):c.796_799del (p.Asp266fs)	LDLR	Pathogenic	19	11217342	11217345	CGATG	C	criteria provided, single submitter	ClinGen:CA10585135,LDLR-LOVD, British Heart Foundation:LDLR_000468
single nucleotide variant	NM_000527.5(LDLR):c.797A>G (p.Asp266Gly)	LDLR	Likely pathogenic	19	11217343	11217343	A	G	reviewed by expert panel	ClinGen:CA10585136,LDLR-LOVD, British Heart Foundation:LDLR_000940
single nucleotide variant	NM_000527.5(LDLR):c.797A>T (p.Asp266Val)	LDLR	Likely pathogenic	19	11217343	11217343	A	T	reviewed by expert panel	ClinGen:CA10585137,LDLR-LOVD, British Heart Foundation:LDLR_000116
single nucleotide variant	NM_000527.5(LDLR):c.801A>T (p.Glu267Asp)	LDLR	Likely pathogenic	19	11217347	11217347	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585140,LDLR-LOVD, British Heart Foundation:LDLR_001044
single nucleotide variant	NM_000527.5(LDLR):c.808T>A (p.Cys270Ser)	LDLR	Likely pathogenic	19	11217354	11217354	T	A	criteria provided, single submitter	ClinGen:CA10585141,LDLR-LOVD, British Heart Foundation:LDLR_001045