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
Duplication	NM_000527.5(LDLR):c.526_533dup (p.Asp178fs)	LDLR	Pathogenic	19	11216108	11216115	T	TGGCTCGGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584971,LDLR-LOVD, British Heart Foundation:LDLR_000074
single nucleotide variant	NM_000527.5(LDLR):c.527G>T (p.Gly176Val)	LDLR	Likely pathogenic	19	11216109	11216109	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584972,LDLR-LOVD, British Heart Foundation:LDLR_000465
single nucleotide variant	NM_000527.5(LDLR):c.532G>A (p.Asp178Asn)	LDLR	Likely pathogenic	19	11216114	11216114	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584973,LDLR-LOVD, British Heart Foundation:LDLR_000702
single nucleotide variant	NM_000527.5(LDLR):c.532G>C (p.Asp178His)	LDLR	Pathogenic/Likely pathogenic	19	11216114	11216114	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584974,LDLR-LOVD, British Heart Foundation:LDLR_000872
single nucleotide variant	NM_000527.5(LDLR):c.532G>T (p.Asp178Tyr)	LDLR	Likely pathogenic	19	11216114	11216114	G	T	criteria provided, single submitter	ClinGen:CA10584975,LDLR-LOVD, British Heart Foundation:LDLR_000722
Insertion	NM_000527.5(LDLR):c.532_533insT (p.Asp178fs)	LDLR	Pathogenic	19	11216114	11216115	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584976,LDLR-LOVD, British Heart Foundation:LDLR_000076
single nucleotide variant	NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216115	11216115	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584977,LDLR-LOVD, British Heart Foundation:LDLR_000825
single nucleotide variant	NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)	LDLR	Pathogenic/Likely pathogenic	19	11216116	11216116	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584978,LDLR-LOVD, British Heart Foundation:LDLR_000466
single nucleotide variant	NM_000527.5(LDLR):c.535G>A (p.Glu179Lys)	LDLR	Likely pathogenic	19	11216117	11216117	G	A	criteria provided, single submitter	ClinGen:CA10584979,LDLR-LOVD, British Heart Foundation:LDLR_001758
single nucleotide variant	NM_000527.5(LDLR):c.535G>T (p.Glu179Ter)	LDLR	Pathogenic	19	11216117	11216117	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584980,LDLR-LOVD, British Heart Foundation:LDLR_001759