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.919C>T (p.Gln307Ter)	ABCD1	Pathogenic	X	152994705	152994705	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)	ABCD1	Likely pathogenic	X	152991550	152991550	G	A	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	-
Deletion	NM_000033.4(ABCD1):c.36del (p.Asn13fs)	ABCD1	Pathogenic	X	152990753	152990753	CG	C	criteria provided, single submitter	-
Deletion	NM_000033.4(ABCD1):c.1628del (p.Pro543fs)	ABCD1	Pathogenic	X	153005683	153005683	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	ABCD1	Pathogenic/Likely pathogenic	X	153008788	153008788	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp)	ABCD1	Likely pathogenic	X	152991621	152991621	G	C	criteria provided, single submitter	-