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.1660C>A (p.Arg554Ser)	ABCD1	Likely pathogenic	X	153006053	153006053	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278406
single nucleotide variant	NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp)	ABCD1	Likely pathogenic	X	153005643	153005643	G	A	criteria provided, single submitter	ClinGen:CA278404
single nucleotide variant	NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)	ABCD1	Likely pathogenic	X	153005649	153005649	T	C	criteria provided, single submitter	ClinGen:CA278375
single nucleotide variant	NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)	ABCD1	Likely pathogenic	X	152991164	152991164	A	G	criteria provided, single submitter	ClinGen:CA278103,UniProtKB:P33897#VAR_000034,OMIM:300371.0006