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.1012T>A (p.Cys338Ser)	LDLR	Pathogenic/Likely pathogenic	19	11221399	11221399	T	A	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001322,UniProtKB:P01130#VAR_005364,ClinGen:CA10585245
single nucleotide variant	NM_000527.5(LDLR):c.1012T>C (p.Cys338Arg)	LDLR	Likely pathogenic	19	11221399	11221399	T	C	criteria provided, single submitter	ClinGen:CA10585246,LDLR-LOVD, British Heart Foundation:LDLR_000518
single nucleotide variant	NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)	LDLR	Pathogenic/Likely pathogenic	19	11221399	11221399	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585247,LDLR-LOVD, British Heart Foundation:LDLR_000336
single nucleotide variant	NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11221400	11221400	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585248,LDLR-LOVD, British Heart Foundation:LDLR_000620
single nucleotide variant	NM_000527.5(LDLR):c.1014C>A (p.Cys338Ter)	LDLR	Pathogenic	19	11221401	11221401	C	A	criteria provided, single submitter	ClinGen:CA10585249,LDLR-LOVD, British Heart Foundation:LDLR_001258
Duplication	NM_000527.5(LDLR):c.1017dup (p.Cys340fs)	LDLR	Pathogenic	19	11221404	11221404	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585251,LDLR-LOVD, British Heart Foundation:LDLR_001323
Indel	NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)	LDLR	Pathogenic/Likely pathogenic	19	11221406	11221407	GC	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585253,LDLR-LOVD, British Heart Foundation:LDLR_001324
single nucleotide variant	NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp)	LDLR	Pathogenic/Likely pathogenic	19	11221407	11221407	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA031209,LDLR-LOVD, British Heart Foundation:LDLR_000145
single nucleotide variant	NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys)	LDLR	Pathogenic	19	11221414	11221414	G	T	reviewed by expert panel	ClinGen:CA10585257,LDLR-LOVD, British Heart Foundation:LDLR_000146
single nucleotide variant	NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp)	LDLR	Likely pathogenic	19	11221415	11221415	G	A	reviewed by expert panel	ClinGen:CA10585258,LDLR-LOVD, British Heart Foundation:LDLR_000874