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.1955T>C (p.Met652Thr)	LDLR	Likely pathogenic	19	11230877	11230877	T	C	reviewed by expert panel	ClinGen:CA10576326,LDLR-LOVD, British Heart Foundation:LDLR_000266
Deletion	NM_000527.5(LDLR):c.2027del (p.Gly676fs)	LDLR	Pathogenic	19	11231084	11231084	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576327
single nucleotide variant	NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)	LDLR	Pathogenic/Likely pathogenic	19	11231087	11231087	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA038234,LDLR-LOVD, British Heart Foundation:LDLR_001587,UniProtKB:P01130#VAR_005408
single nucleotide variant	NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe)	LDLR	Likely pathogenic	19	11231088	11231088	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576328,LDLR-LOVD, British Heart Foundation:LDLR_000659
single nucleotide variant	NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln)	LDLR	Likely pathogenic	19	11231198	11231198	G	C	criteria provided, single submitter	ClinGen:CA10576329,LDLR-LOVD, British Heart Foundation:LDLR_001611
Deletion	NM_000527.5(LDLR):c.2271del (p.Leu759fs)	LDLR	Pathogenic	19	11233980	11233980	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576331,LDLR-LOVD, British Heart Foundation:LDLR_000890
Deletion	NM_000527.5(LDLR):c.2292del (p.Ile764fs)	LDLR	Pathogenic	19	11234001	11234001	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576332,LDLR-LOVD, British Heart Foundation:LDLR_001623
single nucleotide variant	NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser)	LDLR	Likely pathogenic	19	11240282	11240282	A	C	criteria provided, single submitter	ClinGen:CA10576335,LDLR-LOVD, British Heart Foundation:LDLR_001659
single nucleotide variant	NM_000384.3(APOB):c.631C>T (p.Gln211Ter)	APOB	Likely pathogenic	2	21260034	21260034	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576587
single nucleotide variant	NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)	LDLR	Likely pathogenic	19	11223984	11223984	G	A	reviewed by expert panel	ClinGen:CA033088,LDLR-LOVD, British Heart Foundation:LDLR_000650,UniProtKB:P01130#VAR_013954