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.2087G>A (p.Cys696Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11231145	11231145	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585764,LDLR-LOVD, British Heart Foundation:LDLR_000755
single nucleotide variant	NM_000527.5(LDLR):c.2088C>A (p.Cys696Ter)	LDLR	Pathogenic	19	11231146	11231146	C	A	criteria provided, single submitter	ClinGen:CA10585765,LDLR-LOVD, British Heart Foundation:LDLR_000906
single nucleotide variant	NM_000527.5(LDLR):c.2088C>G (p.Cys696Trp)	LDLR	Likely pathogenic	19	11231146	11231146	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585766,LDLR-LOVD, British Heart Foundation:LDLR_000584
single nucleotide variant	NM_000527.5(LDLR):c.2089G>C (p.Ala697Pro)	LDLR	Likely pathogenic	19	11231147	11231147	G	C	criteria provided, single submitter	ClinGen:CA10585767,LDLR-LOVD, British Heart Foundation:LDLR_000652
Deletion	NM_000527.5(LDLR):c.2092del (p.Cys698fs)	LDLR	Pathogenic/Likely pathogenic	19	11231150	11231150	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585768,LDLR-LOVD, British Heart Foundation:LDLR_001598
single nucleotide variant	NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11231151	11231151	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585769,LDLR-LOVD, British Heart Foundation:LDLR_000585
single nucleotide variant	NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)	LDLR	Pathogenic/Likely pathogenic	19	11231151	11231151	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585770,LDLR-LOVD, British Heart Foundation:LDLR_000756
Deletion	NM_000527.5(LDLR):c.2096del (p.Pro699fs)	LDLR	Pathogenic	19	11231152	11231152	GC	G	criteria provided, single submitter	ClinGen:CA10585772,LDLR-LOVD, British Heart Foundation:LDLR_001601
single nucleotide variant	NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)	LDLR	Likely pathogenic	19	11231157	11231157	A	G	reviewed by expert panel	ClinGen:CA10585773,LDLR-LOVD, British Heart Foundation:LDLR_000966
Duplication	NM_000527.5(LDLR):c.2108_2111dup (p.Arg706fs)	LDLR	Pathogenic	19	11231166	11231169	C	CTGCT	criteria provided, single submitter	ClinGen:CA10585775,LDLR-LOVD, British Heart Foundation:LDLR_000929