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.1A>G (p.Met1Val)	LDLR	Likely pathogenic	19	11200225	11200225	A	G	reviewed by expert panel	ClinGen:CA10584719,LDLR-LOVD, British Heart Foundation:LDLR_000328
single nucleotide variant	NM_000527.5(LDLR):c.1A>C (p.Met1Leu)	LDLR	Pathogenic	19	11200225	11200225	A	C	reviewed by expert panel	ClinGen:CA10584718,LDLR-LOVD, British Heart Foundation:LDLR_000356
Deletion	NC_000019.10:g.(?_11089529)_(11100365_?)del	LDLR	Pathogenic	19	11200205	11211041	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.4(LDLR):c.-99A>G	LDLR	Likely pathogenic	19	11200126	11200126	A	G	criteria provided, single submitter	ClinGen:CA16602289
Duplication	NM_000527.4(LDLR):c.-124dup	LDLR	Likely pathogenic	19	11200098	11200099	G	GA	criteria provided, single submitter	ClinGen:CA16602288
single nucleotide variant	NM_000527.4(LDLR):c.-135C>G	LDLR	Pathogenic/Likely pathogenic	19	11200090	11200090	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584710,LDLR-LOVD, British Heart Foundation:LDLR_000003
single nucleotide variant	NM_000527.4(LDLR):c.-136C>T	LDLR	Pathogenic/Likely pathogenic	19	11200089	11200089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584709,LDLR-LOVD, British Heart Foundation:LDLR_001261
single nucleotide variant	NM_000527.4(LDLR):c.-149C>A	LDLR	Likely pathogenic	19	11200076	11200076	C	A	reviewed by expert panel	ClinGen:CA10584700,LDLR-LOVD, British Heart Foundation:LDLR_001264
Deletion	NM_000527.4(LDLR):c.-155_-150del	LDLR	Likely pathogenic	19	11200070	11200075	CACCCCA	C	criteria provided, single submitter	ClinGen:CA16602287
single nucleotide variant	NM_000527.4(LDLR):c.-168A>G	LDLR	Likely pathogenic	19	11200057	11200057	A	G	criteria provided, single submitter	ClinGen:CA16602286