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.389dup (p.Asp131fs)	LDLR	Pathogenic	19	11215971	11215971	T	TC	criteria provided, single submitter	ClinGen:CA10584898,LDLR-LOVD, British Heart Foundation:LDLR_000412
single nucleotide variant	NM_000527.5(LDLR):c.391G>C (p.Asp131His)	LDLR	Likely pathogenic	19	11215973	11215973	G	C	criteria provided, single submitter	ClinGen:CA10584899,LDLR-LOVD, British Heart Foundation:LDLR_001723
Duplication	NM_000527.5(LDLR):c.397dup (p.Asp133fs)	LDLR	Pathogenic	19	11215979	11215979	C	CG	criteria provided, single submitter	ClinGen:CA10584901,LDLR-LOVD, British Heart Foundation:LDLR_000696
single nucleotide variant	NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11215983	11215983	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584902,LDLR-LOVD, British Heart Foundation:LDLR_001724
single nucleotide variant	NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)	LDLR	Pathogenic/Likely pathogenic	19	11215983	11215983	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584903,LDLR-LOVD, British Heart Foundation:LDLR_001725,UniProtKB:P01130#VAR_062371
single nucleotide variant	NM_000527.5(LDLR):c.402C>G (p.Cys134Trp)	LDLR	Likely pathogenic	19	11215984	11215984	C	G	criteria provided, single submitter	ClinGen:CA10584904,LDLR-LOVD, British Heart Foundation:LDLR_001726,UniProtKB:P01130#VAR_062372
single nucleotide variant	NM_000527.5(LDLR):c.407A>T (p.Asp136Val)	LDLR	Likely pathogenic	19	11215989	11215989	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584905,LDLR-LOVD, British Heart Foundation:LDLR_001244
single nucleotide variant	NM_000527.5(LDLR):c.409G>T (p.Gly137Cys)	LDLR	Likely pathogenic	19	11215991	11215991	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584906,LDLR-LOVD, British Heart Foundation:LDLR_000054
single nucleotide variant	NM_000527.5(LDLR):c.413C>G (p.Ser138Ter)	LDLR	Pathogenic	19	11215995	11215995	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA043464,LDLR-LOVD, British Heart Foundation:LDLR_000055
single nucleotide variant	NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)	LDLR	Likely pathogenic	19	11215997	11215997	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584907,LDLR-LOVD, British Heart Foundation:LDLR_000413