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.2108_2114dup (p.Arg706fs)	LDLR	Pathogenic	19	11231166	11231172	T	TGCTGCTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585776,LDLR-LOVD, British Heart Foundation:LDLR_000675
single nucleotide variant	NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)	LDLR	Likely pathogenic	19	11231178	11231178	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585780,LDLR-LOVD, British Heart Foundation:LDLR_001605
single nucleotide variant	NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser)	LDLR	Likely pathogenic	19	11231189	11231189	T	A	criteria provided, single submitter	ClinGen:CA10585781,LDLR-LOVD, British Heart Foundation:LDLR_000810
single nucleotide variant	NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr)	LDLR	Likely pathogenic	19	11231190	11231190	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585782,LDLR-LOVD, British Heart Foundation:LDLR_001606
single nucleotide variant	NM_000527.5(LDLR):c.2132G>C (p.Cys711Ser)	LDLR	Likely pathogenic	19	11231190	11231190	G	C	criteria provided, single submitter	ClinGen:CA10585783,LDLR-LOVD, British Heart Foundation:LDLR_001607
single nucleotide variant	NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe)	LDLR	Likely pathogenic	19	11231190	11231190	G	T	criteria provided, single submitter	ClinGen:CA10585784,LDLR-LOVD, British Heart Foundation:LDLR_001079
single nucleotide variant	NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter)	LDLR	Pathogenic	19	11231191	11231191	C	A	criteria provided, single submitter	ClinGen:CA10585785,LDLR-LOVD, British Heart Foundation:LDLR_001608
single nucleotide variant	NM_000527.5(LDLR):c.2140G>A (p.Glu714Lys)	LDLR	Likely pathogenic	19	11231198	11231198	G	A	criteria provided, single submitter	ClinGen:CA10585786,LDLR-LOVD, British Heart Foundation:LDLR_000586
single nucleotide variant	NM_000527.5(LDLR):c.2140+1G>C	LDLR	Likely pathogenic	19	11231199	11231199	G	C	criteria provided, single submitter	ClinGen:CA10585787,LDLR-LOVD, British Heart Foundation:LDLR_000660
single nucleotide variant	NM_000527.5(LDLR):c.2140+1G>T	LDLR	Pathogenic/Likely pathogenic	19	11231199	11231199	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585788,LDLR-LOVD, British Heart Foundation:LDLR_001609