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
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
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.2035T>A (p.Trp679Arg)	ABCD1	Likely pathogenic	X	153008986	153008986	T	A	criteria provided, single submitter	ClinGen:CA415118445
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