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.1502C>T (p.Ala501Val)	LDLR	Pathogenic/Likely pathogenic	19	11224354	11224354	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA034573,LDLR-LOVD, British Heart Foundation:LDLR_000899
Duplication	NM_000527.5(LDLR):c.1502dup (p.Asp502fs)	LDLR	Pathogenic	19	11224354	11224354	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585484,LDLR-LOVD, British Heart Foundation:LDLR_000847
single nucleotide variant	NM_000527.5(LDLR):c.1510A>T (p.Lys504Ter)	LDLR	Pathogenic	19	11224362	11224362	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585486,LDLR-LOVD, British Heart Foundation:LDLR_001447
single nucleotide variant	NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp)	LDLR	Likely pathogenic	19	11224366	11224366	G	A	criteria provided, single submitter	ClinGen:CA10585487,LDLR-LOVD, British Heart Foundation:LDLR_001014
Deletion	NM_000527.5(LDLR):c.1516_1562del (p.Val506fs)	LDLR	Pathogenic	19	11224368	11224414	ACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG	A	criteria provided, single submitter	ClinGen:CA10585488,LDLR-LOVD, British Heart Foundation:LDLR_000639
single nucleotide variant	NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr)	LDLR	Likely pathogenic	19	11224372	11224372	A	C	criteria provided, single submitter	ClinGen:CA10585490,LDLR-LOVD, British Heart Foundation:LDLR_001057
Indel	NM_000527.5(LDLR):c.1522delinsCTGAAT (p.Arg508fs)	LDLR	Pathogenic	19	11224374	11224374	A	CTGAAT	criteria provided, single submitter	ClinGen:CA10585491,LDLR-LOVD, British Heart Foundation:LDLR_000977
single nucleotide variant	NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)	LDLR	Likely pathogenic	19	11224377	11224377	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585492,LDLR-LOVD, British Heart Foundation:LDLR_000476
single nucleotide variant	NM_000527.5(LDLR):c.1532T>C (p.Leu511Ser)	LDLR	Likely pathogenic	19	11224384	11224384	T	C	criteria provided, single submitter	ClinGen:CA10585493,LDLR-LOVD, British Heart Foundation:LDLR_001449
single nucleotide variant	NM_000527.5(LDLR):c.1532T>G (p.Leu511Ter)	LDLR	Pathogenic	19	11224384	11224384	T	G	criteria provided, single submitter	ClinGen:CA10585494,LDLR-LOVD, British Heart Foundation:LDLR_001450