家族性高コレステロール血症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000384.3(APOB):c.10182G>T (p.Lys3394Asn)	APOB	Pathogenic/Likely pathogenic	2	21229558	21229558	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345987169
Deletion	NM_000527.4(LDLR):c.1988-?_2140+?del	LDLR	Pathogenic	19	11120302	11120522	na	na	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.105_110del (p.Asp36_Gly37del)	LDLR	Likely pathogenic	19	11210936	11210941	AAGACGG	A	criteria provided, single submitter	ClinGen:CA645509255
single nucleotide variant	NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)	LDLR	Pathogenic/Likely pathogenic	19	11222259	11222259	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404083621
single nucleotide variant	NM_000527.5(LDLR):c.1757C>A (p.Ser586Ter)	LDLR	Pathogenic	19	11227586	11227586	C	A	criteria provided, single submitter	ClinGen:CA404089727
single nucleotide variant	NM_000527.5(LDLR):c.1988-1G>A	LDLR	Pathogenic	19	11231045	11231045	G	A	criteria provided, single submitter	ClinGen:CA404093393
Deletion	Single allele	LDLR	Pathogenic	19	11200292	11227675	na	na	criteria provided, single submitter	OMIM:606945.0046
Deletion	Single allele	LDLR	Pathogenic	19	11211022	11216277	na	na	criteria provided, single submitter	-
Deletion	Single allele	LDLR	Pathogenic	19	11211022	11217364	na	na	criteria provided, single submitter	-
Deletion	Single allele	LDLR	Pathogenic	19	11211022	11224439	na	na	criteria provided, single submitter	-