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
single nucleotide variant	NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)	LDLR	Pathogenic/Likely pathogenic	19	11218078	11218078	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585156,LDLR-LOVD, British Heart Foundation:LDLR_000507,UniProtKB:P01130#VAR_072837
single nucleotide variant	NM_000527.5(LDLR):c.850T>C (p.Cys284Arg)	LDLR	Likely pathogenic	19	11218100	11218100	T	C	criteria provided, single submitter	ClinGen:CA10585158,LDLR-LOVD, British Heart Foundation:LDLR_000999
single nucleotide variant	NM_000527.5(LDLR):c.850T>G (p.Cys284Gly)	LDLR	Likely pathogenic	19	11218100	11218100	T	G	criteria provided, single submitter	ClinGen:CA10585159,LDLR-LOVD, British Heart Foundation:LDLR_001047
single nucleotide variant	NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	LDLR	Likely pathogenic	19	11218108	11218108	C	A	reviewed by expert panel	ClinGen:CA029904,LDLR-LOVD, British Heart Foundation:LDLR_000129,UniProtKB:P01130#VAR_005351
single nucleotide variant	NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)	LDLR	Pathogenic	19	11218109	11218109	G	T	reviewed by expert panel	ClinGen:CA10585162,LDLR-LOVD, British Heart Foundation:LDLR_000885
single nucleotide variant	NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)	LDLR	Pathogenic	19	11218112	11218112	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585163,LDLR-LOVD, British Heart Foundation:LDLR_001849
Deletion	NM_000527.5(LDLR):c.865del (p.Cys289fs)	LDLR	Pathogenic/Likely pathogenic	19	11218115	11218115	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585165,LDLR-LOVD, British Heart Foundation:LDLR_001850
single nucleotide variant	NM_000527.5(LDLR):c.869T>G (p.Ile290Ser)	LDLR	Likely pathogenic	19	11218119	11218119	T	G	criteria provided, single submitter	ClinGen:CA10585166,LDLR-LOVD, British Heart Foundation:LDLR_001852
Deletion	NM_000527.5(LDLR):c.874del (p.Leu292fs)	LDLR	Pathogenic	19	11218122	11218122	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585168,LDLR-LOVD, British Heart Foundation:LDLR_000833
Duplication	NM_000527.5(LDLR):c.875dup (p.Asp293fs)	LDLR	Pathogenic	19	11218125	11218125	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585169,LDLR-LOVD, British Heart Foundation:LDLR_001853