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.651_687del (p.Asp217fs)	LDLR	Pathogenic	19	11216233	11216269	GATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA	G	criteria provided, single submitter	ClinGen:CA10585041,LDLR-LOVD, British Heart Foundation:LDLR_001787
Deletion	NM_000527.5(LDLR):c.655_657del (p.Gly219del)	LDLR	Likely pathogenic	19	11216237	11216239	TGGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585042,LDLR-LOVD, British Heart Foundation:LDLR_000975
Duplication	NM_000527.5(LDLR):c.657_661dup (p.Asp221fs)	LDLR	Pathogenic	19	11216239	11216243	G	GGCCCC	criteria provided, single submitter	ClinGen:CA10585045,LDLR-LOVD, British Heart Foundation:LDLR_000768
single nucleotide variant	NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)	LDLR	Pathogenic	19	11216243	11216243	G	T	reviewed by expert panel	ClinGen:CA10585046,LDLR-LOVD, British Heart Foundation:LDLR_001792,UniProtKB:P01130#VAR_005333
Duplication	NM_000527.5(LDLR):c.661_673dup (p.Lys225fs)	LDLR	Pathogenic	19	11216243	11216255	C	CGACTGCAAGGACA	criteria provided, single submitter	ClinGen:CA10585047,LDLR-LOVD, British Heart Foundation:LDLR_001789
Deletion	NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer)	LDLR	Pathogenic	19	11216243	11216259	CCGACTGCAAGGACAAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585048,LDLR-LOVD, British Heart Foundation:LDLR_001118
single nucleotide variant	NM_000527.5(LDLR):c.662A>T (p.Asp221Val)	LDLR	Likely pathogenic	19	11216244	11216244	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585049,LDLR-LOVD, British Heart Foundation:LDLR_001793
Duplication	NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)	LDLR	Pathogenic/Likely pathogenic	19	11216245	11216265	C	CCGACTGCAAGGACAAATCTGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585050,LDLR-LOVD, British Heart Foundation:LDLR_001249
single nucleotide variant	NM_000527.5(LDLR):c.664T>G (p.Cys222Gly)	LDLR	Likely pathogenic	19	11216246	11216246	T	G	criteria provided, single submitter	ClinGen:CA10585051,LDLR-LOVD, British Heart Foundation:LDLR_000098
Indel	NM_000527.5(LDLR):c.664_681delinsCCGACTG (p.Cys222fs)	LDLR	Pathogenic	19	11216246	11216263	TGCAAGGACAAATCTGAC	CCGACTG	criteria provided, single submitter	ClinGen:CA10585052,LDLR-LOVD, British Heart Foundation:LDLR_001794