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_000527.4(LDLR):c.2312-?_2389+?del	LDLR	Pathogenic	19	11236353	11239475	na	na	criteria provided, multiple submitters, no conflicts	-
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
Indel	NM_000527.5(LDLR):c.479_480delinsTT (p.Cys160Phe)	LDLR	Likely pathogenic	19	11216061	11216062	GC	TT	criteria provided, single submitter	ClinGen:CA645373224
single nucleotide variant	NM_000527.5(LDLR):c.487C>T (p.Gln163Ter)	LDLR	Pathogenic	19	11216069	11216069	C	T	criteria provided, single submitter	ClinGen:CA404076762
single nucleotide variant	NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)	LDLR	Likely pathogenic	19	11216124	11216124	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA305296856
Duplication	NM_000527.5(LDLR):c.949dup (p.Glu317fs)	LDLR	Pathogenic	19	11221335	11221336	C	CG	criteria provided, single submitter	ClinGen:CA645372640
Duplication	NM_000527.5(LDLR):c.1158_1162dup (p.His388fs)	LDLR	Pathogenic	19	11222286	11222287	A	ACCCCC	criteria provided, single submitter	ClinGen:CA645373248
Duplication	NM_000527.5(LDLR):c.1162dup (p.His388fs)	LDLR	Pathogenic	19	11222286	11222287	A	AC	criteria provided, single submitter	ClinGen:CA645373249
Deletion	NM_000527.5(LDLR):c.1474del (p.Asp492fs)	LDLR	Pathogenic	19	11224326	11224326	CG	C	criteria provided, single submitter	ClinGen:CA645373232
Deletion	NM_000527.5(LDLR):c.1573_1586+5del	LDLR	Pathogenic	19	11224424	11224442	TGGATCCTGTTCATGGGTGC	T	criteria provided, single submitter	ClinGen:CA645373236