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.2311+1G>A	LDLR	Pathogenic	19	11234021	11234021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585819,LDLR-LOVD, British Heart Foundation:LDLR_001626
single nucleotide variant	NM_000527.5(LDLR):c.2311+1G>C	LDLR	Likely pathogenic	19	11234021	11234021	G	C	criteria provided, single submitter	ClinGen:CA10585820,LDLR-LOVD, British Heart Foundation:LDLR_000930
single nucleotide variant	NM_000527.5(LDLR):c.2311+1G>T	LDLR	Pathogenic/Likely pathogenic	19	11234021	11234021	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585821,LDLR-LOVD, British Heart Foundation:LDLR_001627
single nucleotide variant	NM_000527.5(LDLR):c.2311+2T>G	LDLR	Pathogenic/Likely pathogenic	19	11234022	11234022	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585822,LDLR-LOVD, British Heart Foundation:LDLR_000883
Insertion	NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs)	LDLR	Pathogenic	19	11238689	11238690	G	GTA	criteria provided, single submitter	ClinGen:CA10585825,LDLR-LOVD, British Heart Foundation:LDLR_001086
Deletion	NM_000527.5(LDLR):c.2318del (p.Gly773fs)	LDLR	Pathogenic	19	11238688	11238688	TG	T	criteria provided, single submitter	ClinGen:CA10585826,LDLR-LOVD, British Heart Foundation:LDLR_001628
Insertion	NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs)	LDLR	Pathogenic	19	11238705	11238706	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585828,LDLR-LOVD, British Heart Foundation:LDLR_001006
Deletion	NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs)	LDLR	Pathogenic	19	11238715	11238719	TGAGAA	T	criteria provided, single submitter	ClinGen:CA10585829,LDLR-LOVD, British Heart Foundation:LDLR_000345
Deletion	NM_000527.5(LDLR):c.2385del (p.Ile796fs)	LDLR	Pathogenic	19	11238754	11238754	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585835,LDLR-LOVD, British Heart Foundation:LDLR_000296
single nucleotide variant	NM_000527.5(LDLR):c.2389+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11238762	11238762	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585837,LDLR-LOVD, British Heart Foundation:LDLR_000396