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.1646G>T (p.Gly549Val)	LDLR	Likely pathogenic	19	11226829	11226829	G	T	criteria provided, single submitter	ClinGen:CA10585545,LDLR-LOVD, British Heart Foundation:LDLR_001484
Deletion	NM_000527.5(LDLR):c.1651del (p.Asp551fs)	LDLR	Pathogenic	19	11226833	11226833	TG	T	criteria provided, single submitter	ClinGen:CA10585546,LDLR-LOVD, British Heart Foundation:LDLR_001485
Deletion	NM_000527.5(LDLR):c.1655del (p.Ile552fs)	LDLR	Pathogenic	19	11226838	11226838	AT	A	criteria provided, single submitter	ClinGen:CA10585547,LDLR-LOVD, British Heart Foundation:LDLR_001486
Indel	NM_000527.5(LDLR):c.1659_1661delinsATACTTTCA (p.Tyr553_Ser554delinsTer)	LDLR	Pathogenic	19	11226842	11226844	CTC	ATACTTTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585549,LDLR-LOVD, British Heart Foundation:LDLR_001487
single nucleotide variant	NM_000527.5(LDLR):c.1661C>A (p.Ser554Ter)	LDLR	Pathogenic	19	11226844	11226844	C	A	criteria provided, single submitter	ClinGen:CA10585550,LDLR-LOVD, British Heart Foundation:LDLR_001488
Duplication	NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer)	LDLR	Pathogenic	19	11226845	11226852	C	CGCTGGTGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585552,LDLR-LOVD, British Heart Foundation:LDLR_000554
single nucleotide variant	NM_000527.5(LDLR):c.1664T>C (p.Leu555Pro)	LDLR	Likely pathogenic	19	11226847	11226847	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585553,LDLR-LOVD, British Heart Foundation:LDLR_001490
Deletion	NM_000527.5(LDLR):c.1671_1672del (p.Glu558fs)	LDLR	Pathogenic	19	11226854	11226855	CTG	C	criteria provided, single submitter	ClinGen:CA10585554,LDLR-LOVD, British Heart Foundation:LDLR_000740
single nucleotide variant	NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter)	LDLR	Pathogenic	19	11226855	11226855	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585555,LDLR-LOVD, British Heart Foundation:LDLR_001225
single nucleotide variant	NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter)	LDLR	Pathogenic	19	11226864	11226864	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585556,LDLR-LOVD, British Heart Foundation:LDLR_001491