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.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
Deletion	NR_163945.1(LDLR-AS1):n.295_297del	LDLR	Likely pathogenic	19	11200039	11200041	CTCT	C	criteria provided, single submitter	ClinGen:CA10584695,LDLR-LOVD, British Heart Foundation:LDLR_000103
single nucleotide variant	NM_000527.4(LDLR):c.-149C>A	LDLR	Likely pathogenic	19	11200076	11200076	C	A	reviewed by expert panel	ClinGen:CA10584700,LDLR-LOVD, British Heart Foundation:LDLR_001264
single nucleotide variant	NM_000527.5(LDLR):c.1A>G (p.Met1Val)	LDLR	Likely pathogenic	19	11200225	11200225	A	G	reviewed by expert panel	ClinGen:CA10584719,LDLR-LOVD, British Heart Foundation:LDLR_000328
single nucleotide variant	NM_000527.5(LDLR):c.3G>T (p.Met1Ile)	LDLR	Likely pathogenic	19	11200227	11200227	G	T	reviewed by expert panel	ClinGen:CA10584721,LDLR-LOVD, British Heart Foundation:LDLR_000316
single nucleotide variant	NM_000527.5(LDLR):c.28T>A (p.Trp10Arg)	LDLR	Likely pathogenic	19	11200252	11200252	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584725,LDLR-LOVD, British Heart Foundation:LDLR_001681
single nucleotide variant	NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	LDLR	Likely pathogenic	19	11200268	11200268	T	C	reviewed by expert panel	ClinGen:CA10584732,LDLR-LOVD, British Heart Foundation:LDLR_001011
Deletion	NM_000527.5(LDLR):c.68-5_68-2del	LDLR	Likely pathogenic	19	11210894	11210897	TCTCA	T	criteria provided, single submitter	ClinGen:CA10584739,LDLR-LOVD, British Heart Foundation:LDLR_000461
single nucleotide variant	NM_000527.5(LDLR):c.95T>G (p.Phe32Cys)	LDLR	Likely pathogenic	19	11210926	11210926	T	G	criteria provided, single submitter	ClinGen:CA10584750,LDLR-LOVD, British Heart Foundation:LDLR_000462
single nucleotide variant	NM_000527.5(LDLR):c.101G>C (p.Cys34Ser)	LDLR	Likely pathogenic	19	11210932	11210932	G	C	criteria provided, single submitter	ClinGen:CA10584753,LDLR-LOVD, British Heart Foundation:LDLR_000018