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
Duplication	NM_000527.5(LDLR):c.1832dup (p.Leu611fs)	LDLR	Pathogenic	19	11227661	11227661	C	CT	criteria provided, single submitter	ClinGen:CA10585636,LDLR-LOVD, British Heart Foundation:LDLR_000246
single nucleotide variant	NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe)	LDLR	Pathogenic/Likely pathogenic	19	11227662	11227662	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585637,LDLR-LOVD, British Heart Foundation:LDLR_000247
single nucleotide variant	NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe)	LDLR	Likely pathogenic	19	11227662	11227662	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585638,LDLR-LOVD, British Heart Foundation:LDLR_000726
Deletion	NM_000527.5(LDLR):c.1841_1842del (p.Val613_Phe614insTer)	LDLR	Pathogenic	19	11227670	11227671	CTT	C	criteria provided, single submitter	ClinGen:CA10585642,LDLR-LOVD, British Heart Foundation:LDLR_000569
single nucleotide variant	NM_000527.5(LDLR):c.1844A>T (p.Glu615Val)	LDLR	Pathogenic/Likely pathogenic	19	11227673	11227673	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585644,LDLR-LOVD, British Heart Foundation:LDLR_001532
single nucleotide variant	NM_000527.5(LDLR):c.1845+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11227675	11227675	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585645,LDLR-LOVD, British Heart Foundation:LDLR_000764
single nucleotide variant	NM_000527.5(LDLR):c.1845+1G>C	LDLR	Pathogenic	19	11227675	11227675	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585646,LDLR-LOVD, British Heart Foundation:LDLR_000763
single nucleotide variant	NM_000527.5(LDLR):c.1845+1G>T	LDLR	Pathogenic/Likely pathogenic	19	11227675	11227675	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585647,LDLR-LOVD, British Heart Foundation:LDLR_000965
Deletion	NM_000527.5(LDLR):c.1845+1del	LDLR	Pathogenic/Likely pathogenic	19	11227674	11227674	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585648,LDLR-LOVD, British Heart Foundation:LDLR_000251
single nucleotide variant	NM_000527.5(LDLR):c.1845+2T>C	LDLR	Pathogenic/Likely pathogenic	19	11227676	11227676	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA036973,LDLR-LOVD, British Heart Foundation:LDLR_001533