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
Duplication	NM_000527.5(LDLR):c.752dup (p.Ser252fs)	LDLR	Pathogenic	19	11217298	11217298	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585114,LDLR-LOVD, British Heart Foundation:LDLR_001835
single nucleotide variant	NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)	LDLR	Pathogenic	19	11217306	11217306	C	T	reviewed by expert panel	ClinGen:CA10585116,LDLR-LOVD, British Heart Foundation:LDLR_001836
single nucleotide variant	NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	LDLR	Pathogenic/Likely pathogenic	19	11217307	11217307	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585117,LDLR-LOVD, British Heart Foundation:LDLR_000315,UniProtKB:P01130#VAR_062374
single nucleotide variant	NM_000527.5(LDLR):c.762G>T (p.Gln254His)	LDLR	Likely pathogenic	19	11217308	11217308	G	T	criteria provided, single submitter	ClinGen:CA10585118,LDLR-LOVD, British Heart Foundation:LDLR_001041
Inversion	NM_000527.5(LDLR):c.762_763inv (p.Cys255Arg)	LDLR	Likely pathogenic	19	11217308	11217309	GT	AC	criteria provided, single submitter	ClinGen:CA10585119,LDLR-LOVD, British Heart Foundation:LDLR_001140
single nucleotide variant	NM_000527.5(LDLR):c.763T>A (p.Cys255Ser)	LDLR	Likely pathogenic	19	11217309	11217309	T	A	criteria provided, single submitter	ClinGen:CA10585120,LDLR-LOVD, British Heart Foundation:LDLR_000113,UniProtKB:P01130#VAR_065782
single nucleotide variant	NM_000527.5(LDLR):c.763T>C (p.Cys255Arg)	LDLR	Likely pathogenic	19	11217309	11217309	T	C	criteria provided, single submitter	ClinGen:CA10585121,LDLR-LOVD, British Heart Foundation:LDLR_000333
single nucleotide variant	NM_000527.5(LDLR):c.763T>G (p.Cys255Gly)	LDLR	Likely pathogenic	19	11217309	11217309	T	G	criteria provided, single submitter	ClinGen:CA10585122,LDLR-LOVD, British Heart Foundation:LDLR_000114
single nucleotide variant	NM_000527.5(LDLR):c.764G>A (p.Cys255Tyr)	LDLR	Likely pathogenic	19	11217310	11217310	G	A	criteria provided, single submitter	ClinGen:CA10585123,LDLR-LOVD, British Heart Foundation:LDLR_001837
single nucleotide variant	NM_000527.5(LDLR):c.767A>G (p.Asp256Gly)	LDLR	Pathogenic/Likely pathogenic	19	11217313	11217313	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585124,LDLR-LOVD, British Heart Foundation:LDLR_001838,UniProtKB:P01130#VAR_005346