副腎白質ジストロフィー

小児・神経疾患

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_000023.10:g.(?_152954020)_(154096327_?)del	ABCD1	Pathogenic	X	152954020	154096327	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_152959340)_(153009209_?)del	ABCD1	Pathogenic	X	152959340	153009209	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1489-1G>A	ABCD1	Pathogenic	X	153005545	153005545	G	A	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_153740082)_(153740247_?)del	ABCD1	Pathogenic	X	153005536	153005701	na	na	criteria provided, single submitter	-