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.838C>T (p.Arg280Cys)	ABCD1	Pathogenic/Likely pathogenic	X	152991559	152991559	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278382,UniProtKB:P33897#VAR_013347
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
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.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.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
Deletion	NC_000023.11:g.(?_153740082)_(153740247_?)del	ABCD1	Pathogenic	X	153005536	153005701	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1489-1G>A	ABCD1	Pathogenic	X	153005545	153005545	G	A	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_152959340)_(153009209_?)del	ABCD1	Pathogenic	X	152959340	153009209	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_152954020)_(154096327_?)del	ABCD1	Pathogenic	X	152954020	154096327	na	na	criteria provided, single submitter	-