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.876G>C (p.Glu292Asp)	ABCD1	Pathogenic	X	152991597	152991597	G	C	criteria provided, single submitter	ClinGen:CA415100288
single nucleotide variant	NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)	ABCD1	Likely pathogenic	X	153008486	153008486	A	G	criteria provided, single submitter	ClinGen:CA415116021
single nucleotide variant	NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)	ABCD1	Pathogenic/Likely pathogenic	X	152991175	152991175	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)	ABCD1	Pathogenic	X	153001610	153001610	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	ABCD1	Pathogenic/Likely pathogenic	X	153008685	153008685	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)	ABCD1	Pathogenic	X	152990866	152990879	GCCCGCCGGGGAGCC	G	criteria provided, single submitter	-
Duplication	NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)	ABCD1	Pathogenic	X	153006052	153006053	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1866-1G>A	ABCD1	Likely pathogenic	X	153008674	153008674	G	A	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	ABCD1	Pathogenic/Likely pathogenic	X	153005591	153005591	G	A	criteria provided, multiple submitters, no conflicts	-