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.818-3C>G	LDLR	Likely pathogenic	19	11218065	11218065	C	G	criteria provided, single submitter	ClinGen:CA10588894
Insertion	NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs)	LDLR	Likely pathogenic	19	11200238	11200239	G	GCTTTC	criteria provided, single submitter	ClinGen:CA085175
single nucleotide variant	NM_000527.5(LDLR):c.68-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11210898	11210898	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654839
Deletion	NM_000527.5(LDLR):c.233del (p.Arg78fs)	LDLR	Pathogenic/Likely pathogenic	19	11213382	11213382	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654840
Deletion	NM_000527.5(LDLR):c.340_344del (p.Phe114fs)	LDLR	Pathogenic/Likely pathogenic	19	11215921	11215925	AGTTTC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654842
Duplication	NM_000527.5(LDLR):c.370dup (p.Arg124fs)	LDLR	Likely pathogenic	19	11215951	11215952	T	TC	criteria provided, single submitter	ClinGen:CA10654843
single nucleotide variant	NM_000527.5(LDLR):c.428G>C (p.Cys143Ser)	LDLR	Pathogenic/Likely pathogenic	19	11216010	11216010	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654844
Deletion	NM_000527.5(LDLR):c.467del (p.Asn156fs)	LDLR	Pathogenic/Likely pathogenic	19	11216048	11216048	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654845
single nucleotide variant	NM_000527.5(LDLR):c.520G>T (p.Glu174Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216102	11216102	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA043837
single nucleotide variant	NM_000527.5(LDLR):c.695-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11217240	11217240	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654846