副腎白質ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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.1597A>C (p.Lys533Gln)	ABCD1	Pathogenic/Likely pathogenic	X	153005654	153005654	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	ABCD1	Pathogenic/Likely pathogenic	X	152991314	152991314	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)	ABCD1	Pathogenic/Likely pathogenic	X	152991208	152991208	C	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	-
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	-
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	-
Deletion	NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)	ABCD1	Pathogenic/Likely pathogenic	X	153008478	153008481	CGGGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799882
single nucleotide variant	NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	ABCD1	Pathogenic/Likely pathogenic	X	153005685	153005685	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415112044
single nucleotide variant	NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)	ABCD1	Pathogenic/Likely pathogenic	X	152991564	152991564	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415100145