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
Deletion	NM_000527.5(LDLR):c.1683del (p.Gln561fs)	LDLR	Pathogenic	19	11226866	11226866	AG	A	criteria provided, single submitter	ClinGen:CA10585557,LDLR-LOVD, British Heart Foundation:LDLR_001062
single nucleotide variant	NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)	LDLR	Pathogenic/Likely pathogenic	19	11226869	11226869	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585559,LDLR-LOVD, British Heart Foundation:LDLR_000417
Indel	NM_000527.5(LDLR):c.1686_1693delinsT (p.Trp562fs)	LDLR	Pathogenic	19	11226869	11226876	GCCCAATG	T	criteria provided, single submitter	ClinGen:CA10585560,LDLR-LOVD, British Heart Foundation:LDLR_000371
single nucleotide variant	NM_000527.5(LDLR):c.1687C>T (p.Pro563Ser)	LDLR	Likely pathogenic	19	11226870	11226870	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585561,LDLR-LOVD, British Heart Foundation:LDLR_000428
Duplication	NM_000527.5(LDLR):c.1689dup (p.Asn564fs)	LDLR	Pathogenic	19	11226872	11226872	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585563,LDLR-LOVD, British Heart Foundation:LDLR_000555
Indel	NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn)	LDLR	Pathogenic/Likely pathogenic	19	11226881	11226887	CACCCTA	GCCCAAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585565,LDLR-LOVD, British Heart Foundation:LDLR_000365
single nucleotide variant	NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)	LDLR	Pathogenic/Likely pathogenic	19	11226885	11226885	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585566,LDLR-LOVD, British Heart Foundation:LDLR_000558,UniProtKB:P01130#VAR_008996
Duplication	NM_000527.5(LDLR):c.1702_1705dup (p.Asp569fs)	LDLR	Pathogenic	19	11226885	11226888	C	CCTAG	criteria provided, single submitter	ClinGen:CA10585567,LDLR-LOVD, British Heart Foundation:LDLR_001120
single nucleotide variant	NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro)	LDLR	Pathogenic/Likely pathogenic	19	11226886	11226886	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585568,LDLR-LOVD, British Heart Foundation:LDLR_001493
single nucleotide variant	NM_000527.5(LDLR):c.1705+1G>C	LDLR	Pathogenic/Likely pathogenic	19	11226889	11226889	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585571,LDLR-LOVD, British Heart Foundation:LDLR_000997