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.64del (p.Ala22fs)	LDLR	Pathogenic	19	11200288	11200288	TG	T	criteria provided, single submitter	ClinGen:CA10584736,LDLR-LOVD, British Heart Foundation:LDLR_001786
Deletion	NM_000527.4(LDLR):c.-187_67+?del	LDLR	Pathogenic	19	11200038	11200291	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.67+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11200292	11200292	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA085807
single nucleotide variant	NM_000527.5(LDLR):c.67+1G>T	LDLR	Pathogenic	19	11200292	11200292	G	T	criteria provided, single submitter	ClinGen:CA404071956
copy number loss	GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1	LDLR	Pathogenic	19	11200038	11200292	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.67+2T>A	LDLR	Pathogenic/Likely pathogenic	19	11200293	11200293	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584737,LDLR-LOVD, British Heart Foundation:LDLR_000877
Deletion	Single allele	LDLR	Likely pathogenic	19	11188452	11204306	na	na	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.68-5_68-2del	LDLR	Likely pathogenic	19	11210894	11210897	TCTCA	T	criteria provided, single submitter	ClinGen:CA10584739,LDLR-LOVD, British Heart Foundation:LDLR_000461
single nucleotide variant	NM_000527.5(LDLR):c.68-2A>G	LDLR	Pathogenic/Likely pathogenic	19	11210897	11210897	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584740,LDLR-LOVD, British Heart Foundation:LDLR_000016
single nucleotide variant	NM_000527.5(LDLR):c.68-2A>T	LDLR	Pathogenic/Likely pathogenic	19	11210897	11210897	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584741,LDLR-LOVD, British Heart Foundation:LDLR_001811