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_000023.10: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	-
Deletion	NC_000023.11:g.(?_153743201)_(153743755_?)del	ABCD1	Pathogenic	X	153008655	153009209	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_153008421)_(153009209_?)del	ABCD1	Pathogenic	X	153008421	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.2037G>A (p.Trp679Ter)	ABCD1	Likely pathogenic	X	153008988	153008988	G	A	criteria provided, single submitter	ClinGen:CA415118457
single nucleotide variant	NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)	ABCD1	Likely pathogenic	X	153008986	153008986	T	A	criteria provided, single submitter	ClinGen:CA415118445
Duplication	NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)	ABCD1	Likely pathogenic	X	153008960	153008961	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)	ABCD1	Pathogenic	X	153008949	153008949	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415118105
Insertion	NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)	ABCD1	Likely pathogenic	X	153008948	153008949	A	ACG	criteria provided, single submitter	ClinGen:CA658659061