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.796G>A (p.Gly266Arg)	ABCD1	Pathogenic	X	152991517	152991517	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278105,UniProtKB:P33897#VAR_000052,OMIM:300371.0008
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
single nucleotide variant	NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)	ABCD1	Pathogenic	X	153001649	153001649	C	G	criteria provided, single submitter	ClinGen:CA278102,UniProtKB:P33897#VAR_000062,OMIM:300371.0005
single nucleotide variant	NM_000033.4(ABCD1):c.1635-2A>G	ABCD1	Pathogenic	X	153006026	153006026	A	G	criteria provided, multiple submitters, no conflicts	OMIM:300371.0003