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.666_682dup (p.Glu228fs)	LDLR	Pathogenic	19	11216246	11216247	T	TGCAAGGACAAATCTGAC	criteria provided, single submitter	ClinGen:CA16602306
Insertion	NM_000527.5(LDLR):c.673_674insTGCAA (p.Lys225fs)	LDLR	Likely pathogenic	19	11216254	11216255	C	CATGCA	criteria provided, single submitter	ClinGen:CA16602308
Deletion	NM_000527.5(LDLR):c.674_683del (p.Lys225fs)	LDLR	Likely pathogenic	19	11216255	11216264	CAAATCTGACG	C	criteria provided, single submitter	ClinGen:CA16602309
Deletion	NM_000527.5(LDLR):c.680_692del (p.Asp227fs)	LDLR	Pathogenic	19	11216259	11216271	TCTGACGAGGAAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602310
Deletion	NM_000527.5(LDLR):c.681del (p.Asp227fs)	LDLR	Pathogenic	19	11216263	11216263	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602311
single nucleotide variant	NM_000527.5(LDLR):c.683A>G (p.Glu228Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216265	11216265	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602312
single nucleotide variant	NM_000527.5(LDLR):c.706T>G (p.Cys236Gly)	LDLR	Likely pathogenic	19	11217252	11217252	T	G	criteria provided, single submitter	ClinGen:CA16602313
single nucleotide variant	NM_000527.5(LDLR):c.743G>C (p.Cys248Ser)	LDLR	Likely pathogenic	19	11217289	11217289	G	C	criteria provided, single submitter	ClinGen:CA16602314
single nucleotide variant	NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr)	LDLR	Likely pathogenic	19	11217328	11217328	G	A	criteria provided, single submitter	ClinGen:CA16602315
single nucleotide variant	NM_000527.5(LDLR):c.783C>A (p.Cys261Ter)	LDLR	Pathogenic	19	11217329	11217329	C	A	criteria provided, single submitter	ClinGen:CA16602316