副腎白質ジストロフィー

小児・神経疾患

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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	NC_000023.11:g.(?_153740082)_(153740247_?)del	ABCD1	Pathogenic	X	153005536	153005701	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_000023.10:g.(?_152959340)_(153009209_?)del	ABCD1	Pathogenic	X	152959340	153009209	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_152954020)_(154096327_?)del	ABCD1	Pathogenic	X	152954020	154096327	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_153743201)_(153743755_?)del	ABCD1	Pathogenic	X	153008655	153009209	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_153742977)_(153743745_?)del	ABCD1	Pathogenic	X	153008431	153009199	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)	ABCD1	Likely pathogenic	X	153008728	153008728	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)	ABCD1	Pathogenic	X	153008444	153008444	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)	ABCD1	Pathogenic	X	153002671	153002671	C	G	criteria provided, single submitter	-
Duplication	NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)	ABCD1	Pathogenic	X	153001584	153001585	A	AGGCAGCCT	criteria provided, single submitter	-