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.2544dup (p.Ser849fs)	LDLR	Pathogenic/Likely pathogenic	19	11240343	11240343	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585877,LDLR-LOVD, British Heart Foundation:LDLR_001664
single nucleotide variant	NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)	LDLR	Likely pathogenic	19	11240345	11240345	C	A	reviewed by expert panel	ClinGen:CA10585878,LDLR-LOVD, British Heart Foundation:LDLR_001665
Deletion	NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)	LDLR	Pathogenic/Likely pathogenic	19	11240345	11240345	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585879,LDLR-LOVD, British Heart Foundation:LDLR_001007
single nucleotide variant	NM_000527.5(LDLR):c.2547+1G>A	LDLR	Pathogenic	19	11240347	11240347	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585880,LDLR-LOVD, British Heart Foundation:LDLR_000308
single nucleotide variant	NM_000527.5(LDLR):c.2548-2A>G	LDLR	Likely pathogenic	19	11241955	11241955	A	G	criteria provided, single submitter	ClinGen:CA10585883,LDLR-LOVD, British Heart Foundation:LDLR_000595
Deletion	NM_000527.5(LDLR):c.2552del (p.Gln851fs)	LDLR	Pathogenic	19	11241961	11241961	CA	C	criteria provided, single submitter	ClinGen:CA10585885,LDLR-LOVD, British Heart Foundation:LDLR_000353
Duplication	c.(?_-187)_(67+1_68-1)dup	LDLR	Likely pathogenic	19	11200038	11210898	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001273
Deletion	c.(?_-187)_(67+1_68-1)del	LDLR	Pathogenic	19	11200038	11210898	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000007
Deletion	c.(?_-187)_(940+1_941-1)del	LDLR	Pathogenic	19	11200038	11221327	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001274
Deletion	c.(?_-187)_(1060+1_1061-1)del	LDLR	Pathogenic	19	11200038	11222189	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001271