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
Deletion	NM_000527.5(LDLR):c.316_336del (p.Pro106_Asp112del)	LDLR	Likely pathogenic	19	11215898	11215918	CCCCCAAGACGTGCTCCCAGGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584850,LDLR-LOVD, British Heart Foundation:LDLR_001698
Duplication	NM_000527.5(LDLR):c.318dup (p.Lys107fs)	LDLR	Pathogenic	19	11215900	11215900	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584851,LDLR-LOVD, British Heart Foundation:LDLR_000984
Deletion	NM_000527.5(LDLR):c.320_332del (p.Lys107fs)	LDLR	Pathogenic	19	11215902	11215914	CCCCAAGACGTGCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584852,LDLR-LOVD, British Heart Foundation:LDLR_001035
Duplication	NM_000527.5(LDLR):c.320dup (p.Thr108fs)	LDLR	Pathogenic	19	11215902	11215902	C	CA	criteria provided, single submitter	ClinGen:CA10584853,LDLR-LOVD, British Heart Foundation:LDLR_000484
Indel	NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)	LDLR	Pathogenic/Likely pathogenic	19	11215906	11215907	GT	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584854,LDLR-LOVD, British Heart Foundation:LDLR_000050
Deletion	NM_000527.5(LDLR):c.325_337del (p.Cys109fs)	LDLR	Pathogenic	19	11215907	11215919	AGACGTGCTCCCAG	A	criteria provided, single submitter	ClinGen:CA10584856,LDLR-LOVD, British Heart Foundation:LDLR_001699
single nucleotide variant	NM_000527.5(LDLR):c.326G>T (p.Cys109Phe)	LDLR	Pathogenic/Likely pathogenic	19	11215908	11215908	G	T	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001702,ClinGen:CA10584857
Duplication	NM_000527.5(LDLR):c.327dup (p.Ser110fs)	LDLR	Pathogenic	19	11215909	11215909	G	GC	criteria provided, single submitter	ClinGen:CA10584858,LDLR-LOVD, British Heart Foundation:LDLR_000949
Deletion	NM_000527.5(LDLR):c.335_344del (p.Asp112fs)	LDLR	Pathogenic	19	11215917	11215926	GGACGAGTTTC	G	criteria provided, single submitter	ClinGen:CA10584859,LDLR-LOVD, British Heart Foundation:LDLR_000688
Deletion	NM_000527.5(LDLR):c.338_353del (p.Glu113fs)	LDLR	Pathogenic	19	11215920	11215935	GAGTTTCGCTGCCACGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584860,LDLR-LOVD, British Heart Foundation:LDLR_000821