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
Deletion	NM_000527.5(LDLR):c.2056_2068del (p.Gln686fs)	LDLR	Pathogenic	19	11231114	11231126	GCAGATCAACCCCC	G	criteria provided, single submitter	ClinGen:CA10585753,LDLR-LOVD, British Heart Foundation:LDLR_000481
Deletion	NM_000527.5(LDLR):c.2060del (p.Ile687fs)	LDLR	Pathogenic	19	11231118	11231118	AT	A	criteria provided, single submitter	ClinGen:CA10585754,LDLR-LOVD, British Heart Foundation:LDLR_000583
Duplication	NM_000527.5(LDLR):c.2060dup (p.Asn688fs)	LDLR	Pathogenic	19	11231118	11231118	A	AT	criteria provided, single submitter	ClinGen:CA10585755,LDLR-LOVD, British Heart Foundation:LDLR_000278
Deletion	NM_000527.5(LDLR):c.2063del (p.Asn688fs)	LDLR	Pathogenic	19	11231120	11231120	CA	C	criteria provided, single submitter	ClinGen:CA10585756,LDLR-LOVD, British Heart Foundation:LDLR_001075
Duplication	NM_000527.5(LDLR):c.2063dup (p.Asn688fs)	LDLR	Pathogenic	19	11231121	11231121	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585757,LDLR-LOVD, British Heart Foundation:LDLR_001596
Deletion	NM_000527.5(LDLR):c.2068del (p.His690fs)	LDLR	Pathogenic	19	11231122	11231122	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585759,LDLR-LOVD, British Heart Foundation:LDLR_000682
single nucleotide variant	NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter)	LDLR	Pathogenic	19	11231130	11231130	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585760,LDLR-LOVD, British Heart Foundation:LDLR_001597
Deletion	NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs)	LDLR	Pathogenic	19	11231135	11231136	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585761,LDLR-LOVD, British Heart Foundation:LDLR_001077
single nucleotide variant	NM_000527.5(LDLR):c.2080T>G (p.Phe694Val)	LDLR	Likely pathogenic	19	11231138	11231138	T	G	criteria provided, single submitter	ClinGen:CA10585762,LDLR-LOVD, British Heart Foundation:LDLR_000279
Deletion	NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs)	LDLR	Pathogenic	19	11231143	11231161	ACCTGCGCCTGCCCGGACGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585763,LDLR-LOVD, British Heart Foundation:LDLR_000458