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.2098G>A (p.Asp700Asn)	LDLR	Likely pathogenic	19	11231156	11231156	G	A	reviewed by expert panel	ClinGen:CA023633,LDLR-LOVD, British Heart Foundation:LDLR_001602
Deletion	NM_000384.3(APOB):c.13025del (p.Pro4342fs)	APOB	Likely pathogenic	2	21225269	21225269	TG	T	criteria provided, single submitter	ClinGen:CA210931
single nucleotide variant	NM_000527.5(LDLR):c.190+4A>T	LDLR	Likely pathogenic	19	11211025	11211025	A	T	reviewed by expert panel	ClinGen:CA042227,LDLR-LOVD, British Heart Foundation:LDLR_000028
Insertion	NM_000527.5(LDLR):c.660_661insTG (p.Asp221fs)	LDLR	Likely pathogenic	19	11216242	11216243	C	CTG	criteria provided, single submitter	ClinGen:CA358877
single nucleotide variant	NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)	LDLR	Likely pathogenic	19	11213373	11213373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576270,LDLR-LOVD, British Heart Foundation:LDLR_000686
single nucleotide variant	NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)	LDLR	Likely pathogenic	19	11215999	11215999	C	G	criteria provided, single submitter	ClinGen:CA10576282,LDLR-LOVD, British Heart Foundation:LDLR_001729
single nucleotide variant	NM_000527.5(LDLR):c.427T>G (p.Cys143Gly)	LDLR	Likely pathogenic	19	11216009	11216009	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576283,LDLR-LOVD, British Heart Foundation:LDLR_001733
single nucleotide variant	NM_000527.5(LDLR):c.533A>T (p.Asp178Val)	LDLR	Likely pathogenic	19	11216115	11216115	A	T	criteria provided, single submitter	ClinGen:CA10576284,LDLR-LOVD, British Heart Foundation:LDLR_001757
single nucleotide variant	NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)	LDLR	Likely pathogenic	19	11216246	11216246	T	C	reviewed by expert panel	ClinGen:CA044260,LDLR-LOVD, British Heart Foundation:LDLR_000707
single nucleotide variant	NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)	LDLR	Likely pathogenic	19	11218162	11218162	C	G	reviewed by expert panel	UniProtKB:P01130#VAR_005356,ClinGen:CA10576290,LDLR-LOVD, British Heart Foundation:LDLR_001862