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
Deletion	NC_000019.10:g.(?_11127998)_(11128095_?)del	LDLR	Pathogenic	19	11238674	11238771	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11116084)_(11120608_?)del	LDLR	Pathogenic	19	11226760	11231284	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11100213)_(11102796_?)del	LDLR	Pathogenic	19	11210889	11213472	na	na	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.1357_1359-37del	LDLR	Likely pathogenic	19	11224122	11224172	TGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG	T	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11129503)_(11131359_?)del	LDLR	Pathogenic	19	11240179	11242035	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11110613)_(11111650_?)del	LDLR	Pathogenic	19	11221289	11222326	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11100213)_(11117013_?)del	LDLR	Pathogenic	19	11210889	11227689	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11100203)_(11107534_?)del	LDLR	Pathogenic	19	11210879	11218210	na	na	criteria provided, single submitter	-
Duplication	NM_000527.5(LDLR):c.1647dup (p.Val550fs)	LDLR	Pathogenic	19	11226829	11226830	G	GT	criteria provided, single submitter	-
Duplication	NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs)	LDLR	Pathogenic	19	11224309	11224310	G	GCAACATCTACTGGA	criteria provided, single submitter	-