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.665G>T (p.Cys222Phe)	LDLR	Likely pathogenic	19	11216247	11216247	G	T	reviewed by expert panel	ClinGen:CA10585053,LDLR-LOVD, British Heart Foundation:LDLR_000788
single nucleotide variant	NM_000527.5(LDLR):c.666C>A (p.Cys222Ter)	LDLR	Pathogenic	19	11216248	11216248	C	A	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000100,ClinGen:CA044280
single nucleotide variant	NM_000527.5(LDLR):c.666C>G (p.Cys222Trp)	LDLR	Likely pathogenic	19	11216248	11216248	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585054,LDLR-LOVD, British Heart Foundation:LDLR_001797
Deletion	NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer)	LDLR	Pathogenic	19	11216248	11216269	GCAAGGACAAATCTGACGAGGAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585055,LDLR-LOVD, British Heart Foundation:LDLR_001796
Deletion	NM_000527.5(LDLR):c.667_693del (p.Lys223_Cys231del)	LDLR	Likely pathogenic	19	11216249	11216275	GACTGCAAGGACAAATCTGACGAGGAAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585056,LDLR-LOVD, British Heart Foundation:LDLR_001798
Duplication	NM_000527.5(LDLR):c.668_681dup (p.Glu228fs)	LDLR	Pathogenic	19	11216250	11216263	A	AAGGACAAATCTGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585057,LDLR-LOVD, British Heart Foundation:LDLR_000994
single nucleotide variant	NM_000527.5(LDLR):c.669G>C (p.Lys223Asn)	LDLR	Likely pathogenic	19	11216251	11216251	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585058,LDLR-LOVD, British Heart Foundation:LDLR_001799
Duplication	NM_000527.5(LDLR):c.669_679dup (p.Asp227fs)	LDLR	Pathogenic	19	11216251	11216261	A	AGGACAAATCTG	criteria provided, single submitter	ClinGen:CA10585059,LDLR-LOVD, British Heart Foundation:LDLR_000637
Duplication	NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)	LDLR	Likely pathogenic	19	11216251	11216262	A	AAGGACAAATCTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585060,LDLR-LOVD, British Heart Foundation:LDLR_000101
Indel	NM_000527.5(LDLR):c.670_675delinsTTT (p.Asp224_Lys225delinsPhe)	LDLR	Likely pathogenic	19	11216252	11216257	GACAAA	TTT	criteria provided, single submitter	ClinGen:CA10585061,LDLR-LOVD, British Heart Foundation:LDLR_000102