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	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	-
Deletion	NM_000033.4(ABCD1):c.1225-7_1239del	ABCD1	Pathogenic	X	153001790	153001811	CCTCCCTCAGGTGACGGAGCTGG	C	criteria provided, single submitter	-
Deletion	NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs)	ABCD1	Pathogenic	X	153005677	153005684	TCTACATCC	T	criteria provided, single submitter	-
Deletion	NM_000033.4(ABCD1):c.1203del (p.Ile402fs)	ABCD1	Pathogenic	X	153001686	153001686	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	ABCD1	Pathogenic	X	153008787	153008787	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)	ABCD1	Pathogenic	X	153001580	153001580	A	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)	ABCD1	Pathogenic	X	153006052	153006053	G	GC	criteria provided, single submitter	-
Deletion	NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)	ABCD1	Pathogenic	X	152990866	152990879	GCCCGCCGGGGAGCC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)	ABCD1	Pathogenic	X	153001610	153001610	G	T	criteria provided, single submitter	-