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.2438G>A (p.Trp813Ter)	LDLR	Pathogenic/Likely pathogenic	19	11240237	11240237	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585866,LDLR-LOVD, British Heart Foundation:LDLR_000305
single nucleotide variant	NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter)	LDLR	Pathogenic	19	11240245	11240245	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585867,LDLR-LOVD, British Heart Foundation:LDLR_000306
single nucleotide variant	NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp)	LDLR	Likely pathogenic	19	11240272	11240272	A	G	reviewed by expert panel	ClinGen:CA10585869,LDLR-LOVD, British Heart Foundation:LDLR_001127
single nucleotide variant	NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys)	LDLR	Pathogenic	19	11240274	11240274	C	A	reviewed by expert panel	ClinGen:CA040801,LDLR-LOVD, British Heart Foundation:LDLR_000594,UniProtKB:P01130#VAR_072861
single nucleotide variant	NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)	LDLR	Likely pathogenic	19	11240275	11240275	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585870,LDLR-LOVD, British Heart Foundation:LDLR_001655
Deletion	NM_000527.5(LDLR):c.2478del (p.Val827fs)	LDLR	Pathogenic	19	11240274	11240274	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585871,LDLR-LOVD, British Heart Foundation:LDLR_001656
Duplication	NM_000527.5(LDLR):c.2478dup (p.Val827fs)	LDLR	Pathogenic	19	11240277	11240277	A	AC	criteria provided, single submitter	ClinGen:CA10585872,LDLR-LOVD, British Heart Foundation:LDLR_000812
single nucleotide variant	NM_000527.5(LDLR):c.2482T>C (p.Tyr828His)	LDLR	Likely pathogenic	19	11240281	11240281	T	C	criteria provided, single submitter	ClinGen:CA10585873,LDLR-LOVD, British Heart Foundation:LDLR_001658
Indel	NM_000527.5(LDLR):c.2500_2502delinsC (p.Asp834fs)	LDLR	Pathogenic	19	11240299	11240301	GAT	C	criteria provided, single submitter	ClinGen:CA10585874,LDLR-LOVD, British Heart Foundation:LDLR_001660
Deletion	NM_000527.5(LDLR):c.2509del (p.His837fs)	LDLR	Pathogenic	19	11240307	11240307	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585876,LDLR-LOVD, British Heart Foundation:LDLR_001661