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	NM_000527.5(LDLR):c.2370_2389+20del	LDLR	Likely pathogenic	19	11238742	11238781	TGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.1987+2T>G	LDLR	Pathogenic/Likely pathogenic	19	11230911	11230911	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000019.10:g.(?_11116849)_(11120608_?)del	LDLR	Pathogenic	19	11227525	11231284	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11105210)_(11107528_?)del	LDLR	Pathogenic	19	11215886	11218204	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11100213)_(11107528_?)del	LDLR	Pathogenic	19	11210889	11218204	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.1987+2T>A	LDLR	Pathogenic	19	11230911	11230911	T	A	criteria provided, single submitter	-
Duplication	NC_000019.9:g.(?_11230758)_(11240356_?)dup	LDLR	Pathogenic	19	11230758	11240356	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11120082)_(11120608_?)del	LDLR	Pathogenic	19	11230758	11231284	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11116074)_(11117018_?)del	LDLR	Pathogenic	19	11226750	11227694	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11111504)_(11117013_?)del	LDLR	Pathogenic	19	11222180	11227689	na	na	criteria provided, single submitter	-