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
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.662A>C (p.Asp221Ala)	ABCD1	Likely pathogenic	X	152991383	152991383	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)	ABCD1	Likely pathogenic	X	152991041	152991041	T	C	criteria provided, multiple submitters, no conflicts	-
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.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.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.1866-1G>A	ABCD1	Likely pathogenic	X	153008674	153008674	G	A	criteria provided, single submitter	-
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.1876G>A (p.Ala626Thr)	ABCD1	Pathogenic/Likely pathogenic	X	153008685	153008685	G	A	criteria provided, multiple submitters, no conflicts	-