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.(?_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.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	-
single nucleotide variant	NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)	ABCD1	Pathogenic	X	152994705	152994705	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000033.4(ABCD1):c.723del (p.Trp242fs)	ABCD1	Pathogenic	X	152991443	152991443	GC	G	criteria provided, single submitter	-
Deletion	NM_000033.4(ABCD1):c.408del (p.Gln136fs)	ABCD1	Pathogenic	X	152991129	152991129	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)	ABCD1	Pathogenic	X	152991067	152991067	G	C	criteria provided, single submitter	-
Duplication	NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)	ABCD1	Pathogenic	X	152990950	152990951	T	TGGCTCCTGC	criteria provided, single submitter	-