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.1151A>C (p.Gln384Pro)	LDLR	Likely pathogenic	19	11222280	11222280	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585328,LDLR-LOVD, British Heart Foundation:LDLR_000642
Deletion	NM_000527.5(LDLR):c.1151_1159del (p.Gln384_Asp386del)	LDLR	Likely pathogenic	19	11222280	11222288	TCCAGCTGGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585329,LDLR-LOVD, British Heart Foundation:LDLR_001224
single nucleotide variant	NM_000527.5(LDLR):c.1168A>T (p.Lys390Ter)	LDLR	Pathogenic	19	11222297	11222297	A	T	criteria provided, single submitter	ClinGen:CA10585333,LDLR-LOVD, British Heart Foundation:LDLR_001368
Deletion	NM_000527.5(LDLR):c.1173del (p.Cys392fs)	LDLR	Pathogenic	19	11222301	11222301	GC	G	criteria provided, single submitter	ClinGen:CA10585334,LDLR-LOVD, British Heart Foundation:LDLR_000618
single nucleotide variant	NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)	LDLR	Pathogenic/Likely pathogenic	19	11222303	11222303	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585335,LDLR-LOVD, British Heart Foundation:LDLR_001012
Duplication	NM_000527.5(LDLR):c.1174dup (p.Cys392fs)	LDLR	Pathogenic	19	11222303	11222303	C	CT	criteria provided, single submitter	ClinGen:CA10585336,LDLR-LOVD, British Heart Foundation:LDLR_000163
single nucleotide variant	NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)	LDLR	Pathogenic	19	11222305	11222305	C	A	reviewed by expert panel	ClinGen:CA032391,LDLR-LOVD, British Heart Foundation:LDLR_000164
Deletion	NM_000527.5(LDLR):c.1178del (p.Lys393fs)	LDLR	Pathogenic	19	11222306	11222306	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585337,LDLR-LOVD, British Heart Foundation:LDLR_001370
single nucleotide variant	NM_000527.5(LDLR):c.1179G>C (p.Lys393Asn)	LDLR	Likely pathogenic	19	11222308	11222308	G	C	criteria provided, single submitter	ClinGen:CA10585338,LDLR-LOVD, British Heart Foundation:LDLR_000728
Deletion	NM_000527.5(LDLR):c.1182del (p.Val395fs)	LDLR	Pathogenic	19	11222311	11222311	CT	C	criteria provided, single submitter	ClinGen:CA10585339,LDLR-LOVD, British Heart Foundation:LDLR_000165