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.1186G>A (p.Ala396Thr)	ABCD1	Likely pathogenic	X	153001670	153001670	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)	ABCD1	Likely pathogenic	X	153008782	153008782	C	T	criteria provided, single submitter	-
Duplication	NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)	ABCD1	Likely pathogenic	X	153008960	153008961	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp)	ABCD1	Likely pathogenic	X	152991621	152991621	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)	ABCD1	Likely pathogenic	X	152991550	152991550	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)	ABCD1	Likely pathogenic	X	153008728	153008728	A	G	criteria provided, single submitter	-
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
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.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.1202G>A (p.Arg401Gln)	ABCD1	Pathogenic	X	153001686	153001686	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278106,UniProtKB:P33897#VAR_000064,OMIM:300371.0009