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.269A>G (p.Asp90Gly)	LDLR	Pathogenic	19	11213418	11213418	A	G	reviewed by expert panel	ClinGen:CA042622,LDLR-LOVD, British Heart Foundation:LDLR_001676,UniProtKB:P01130#VAR_005310
single nucleotide variant	NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)	LDLR	Pathogenic	19	11213453	11213453	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA042808,LDLR-LOVD, British Heart Foundation:LDLR_001689
single nucleotide variant	NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11213460	11213460	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576275,LDLR-LOVD, British Heart Foundation:LDLR_001117
Deletion	NM_000527.5(LDLR):c.313_313+1del	LDLR	Pathogenic/Likely pathogenic	19	11213462	11213463	TCG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576276,LDLR-LOVD, British Heart Foundation:LDLR_001692
Duplication	NM_000527.5(LDLR):c.313+2dup	LDLR	Pathogenic/Likely pathogenic	19	11213464	11213464	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576277,LDLR-LOVD, British Heart Foundation:LDLR_001695
Deletion	NM_000527.5(LDLR):c.318del (p.Lys107fs)	LDLR	Pathogenic	19	11215896	11215896	GC	G	criteria provided, single submitter	ClinGen:CA10576278
single nucleotide variant	NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11215908	11215908	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA043125,LDLR-LOVD, British Heart Foundation:LDLR_000051
single nucleotide variant	NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)	LDLR	Pathogenic/Likely pathogenic	19	11215919	11215919	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576279,LDLR-LOVD, British Heart Foundation:LDLR_001705
single nucleotide variant	NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)	LDLR	Pathogenic/Likely pathogenic	19	11215982	11215982	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576281,LDLR-LOVD, British Heart Foundation:LDLR_000329
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