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
Duplication	NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)	ABCD1	Pathogenic/Likely pathogenic	X	153001938	153001939	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278374
Deletion	NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)	ABCD1	Pathogenic	X	152990704	152990729	GGCAGCCAGCCCAGGTGACATGCCGGT	G	criteria provided, single submitter	ClinGen:CA278121,OMIM:300371.0026
single nucleotide variant	NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	ABCD1	Pathogenic/Likely pathogenic	X	153008509	153008509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278117,UniProtKB:P33897#VAR_000083,OMIM:300371.0022
single nucleotide variant	NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)	ABCD1	Pathogenic	X	153008510	153008510	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278116,UniProtKB:P33897#VAR_000085,OMIM:300371.0021
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
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
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.1390C>T (p.Arg464Ter)	ABCD1	Pathogenic/Likely pathogenic	X	153001964	153001964	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278108,OMIM:300371.0011
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.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