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.798T>A (p.Asp266Glu)	LDLR	Pathogenic	19	11217344	11217344	T	A	reviewed by expert panel	UniProtKB:P01130#VAR_005347,ClinGen:CA023765,LDLR-LOVD, British Heart Foundation:LDLR_000117
single nucleotide variant	NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	LDLR	Pathogenic	19	11218112	11218112	G	A	reviewed by expert panel	ClinGen:CA023783,LDLR-LOVD, British Heart Foundation:LDLR_000509,UniProtKB:P01130#VAR_007983
single nucleotide variant	NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	LDLR	Likely pathogenic	19	11224005	11224005	C	T	reviewed by expert panel	ClinGen:CA023439,LDLR-LOVD, British Heart Foundation:LDLR_000967
single nucleotide variant	NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	LDLR	Pathogenic	19	11224284	11224284	G	A	reviewed by expert panel	ClinGen:CA023495,LDLR-LOVD, British Heart Foundation:LDLR_000198,UniProtKB:P01130#VAR_005390
single nucleotide variant	NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	LDLR	Pathogenic/Likely pathogenic	19	11224296	11224296	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023502,LDLR-LOVD, British Heart Foundation:LDLR_001428
single nucleotide variant	NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)	LDLR	Pathogenic/Likely pathogenic	19	11224319	11224319	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023505,LDLR-LOVD, British Heart Foundation:LDLR_000415
single nucleotide variant	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR	Pathogenic	19	11227604	11227604	G	A	reviewed by expert panel	ClinGen:CA023577,LDLR-LOVD, British Heart Foundation:LDLR_000237,UniProtKB:P01130#VAR_005403
single nucleotide variant	NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	LDLR	Pathogenic	19	11227612	11227612	C	T	reviewed by expert panel	ClinGen:CA023581,LDLR-LOVD, British Heart Foundation:LDLR_000239,UniProtKB:P01130#VAR_072856
single nucleotide variant	NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)	LDLR	Likely pathogenic	19	11240274	11240274	C	G	reviewed by expert panel	ClinGen:CA023675,LDLR-LOVD, British Heart Foundation:LDLR_001654,UniProtKB:P01130#VAR_072861
single nucleotide variant	NM_000527.5(LDLR):c.1359-1G>A	LDLR	Pathogenic	19	11224210	11224210	G	A	reviewed by expert panel	LDLR-LOVD, British Heart Foundation:LDLR_001405,ClinGen:CA023463