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.924A>T (p.Glu308Asp)	LDLR	Likely pathogenic	19	11218174	11218174	A	T	criteria provided, single submitter	ClinGen:CA16602317
Deletion	NM_000527.5(LDLR):c.940_940+14del	LDLR	Pathogenic	19	11218186	11218200	AGTGCGGTGAGTCTCG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602318
Duplication	NM_000527.5(LDLR):c.940+1dup	LDLR	Pathogenic	19	11218189	11218190	C	CG	criteria provided, single submitter	ClinGen:CA16602319
single nucleotide variant	NM_000527.5(LDLR):c.940+2T>G	LDLR	Pathogenic	19	11218192	11218192	T	G	criteria provided, single submitter	ClinGen:CA16602320
single nucleotide variant	NM_000527.5(LDLR):c.967G>T (p.Gly323Cys)	LDLR	Likely pathogenic	19	11221354	11221354	G	T	reviewed by expert panel	ClinGen:CA16602321
single nucleotide variant	NM_000527.5(LDLR):c.985T>C (p.Cys329Arg)	LDLR	Likely pathogenic	19	11221372	11221372	T	C	criteria provided, single submitter	ClinGen:CA16602322
single nucleotide variant	NM_000527.5(LDLR):c.1135T>G (p.Cys379Gly)	LDLR	Likely pathogenic	19	11222264	11222264	T	G	criteria provided, single submitter	ClinGen:CA16602323
Deletion	NM_000527.5(LDLR):c.1187del	LDLR	Pathogenic	19	11223953	11223953	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602325
single nucleotide variant	NM_000527.5(LDLR):c.1205T>C (p.Phe402Ser)	LDLR	Likely pathogenic	19	11223972	11223972	T	C	criteria provided, single submitter	ClinGen:CA16602326
single nucleotide variant	NM_000527.5(LDLR):c.1256A>G (p.Tyr419Cys)	LDLR	Likely pathogenic	19	11224023	11224023	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602327