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.314-?_940+?del	LDLR	Pathogenic	19	11213463	11218191	na	na	criteria provided, single submitter	OMIM:606945.0036
single nucleotide variant	NM_000527.5(LDLR):c.2T>C (p.Met1Thr)	LDLR	Likely pathogenic	19	11200226	11200226	T	C	reviewed by expert panel	ClinGen:CA404071092
single nucleotide variant	NM_000527.5(LDLR):c.67+1G>T	LDLR	Pathogenic	19	11200292	11200292	G	T	criteria provided, single submitter	ClinGen:CA404071956
Deletion	NM_000527.5(LDLR):c.91_104del (p.Glu31fs)	LDLR	Pathogenic	19	11210922	11210935	CGAGTTCCAGTGCCA	C	criteria provided, single submitter	ClinGen:CA658653853
Deletion	NM_000527.5(LDLR):c.140_153del (p.Asp47fs)	LDLR	Pathogenic	19	11210970	11210983	CGATGGCAGCGCTGA	C	criteria provided, single submitter	ClinGen:CA658653854
Deletion	NM_000527.5(LDLR):c.362_376del (p.Cys121_Gln125del)	LDLR	Likely pathogenic	19	11215941	11215955	AAGTGCATCTCTCGGC	A	criteria provided, single submitter	ClinGen:CA658653698
Duplication	NM_000527.5(LDLR):c.440_450dup (p.Ala151fs)	LDLR	Pathogenic	19	11216021	11216022	A	ACCTGTGGTCCC	criteria provided, single submitter	ClinGen:CA658653700
single nucleotide variant	NM_000527.5(LDLR):c.470G>A (p.Ser157Asn)	LDLR	Likely pathogenic	19	11216052	11216052	G	A	criteria provided, single submitter	ClinGen:CA404076641
single nucleotide variant	NM_000527.5(LDLR):c.479G>T (p.Cys160Phe)	LDLR	Likely pathogenic	19	11216061	11216061	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404076712
Deletion	NM_000527.5(LDLR):c.671_675del (p.Asp224fs)	LDLR	Pathogenic	19	11216253	11216257	GACAAA	G	criteria provided, single submitter	ClinGen:CA658653704