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.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.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.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
single nucleotide variant	NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	ABCD1	Pathogenic/Likely pathogenic	X	153001826	153001826	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278107,UniProtKB:P33897#VAR_000065,OMIM:300371.0010
single nucleotide variant	NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	ABCD1	Pathogenic/Likely pathogenic	X	153001964	153001964	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278108,OMIM:300371.0011
Deletion	NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	ABCD1	Pathogenic	X	153002632	153002633	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278110,OMIM:300371.0012
single nucleotide variant	NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	ABCD1	Pathogenic/Likely pathogenic	X	153005609	153005609	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278115,UniProtKB:P33897#VAR_000071,OMIM:300371.0016
single nucleotide variant	NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)	ABCD1	Pathogenic	X	153008477	153008477	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121420,UniProtKB:P33897#VAR_000079,OMIM:300371.0019