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.1895C>T (p.Thr632Ile)	ABCD1	Pathogenic	X	153008704	153008704	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621227
single nucleotide variant	NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	ABCD1	Pathogenic/Likely pathogenic	X	153008685	153008685	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1866-1G>A	ABCD1	Likely pathogenic	X	153008674	153008674	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1866-1G>C	ABCD1	Likely pathogenic	X	153008674	153008674	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA415116542
single nucleotide variant	NM_000033.4(ABCD1):c.1866-10G>A	ABCD1	Pathogenic/Likely pathogenic	X	153008665	153008665	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278412,OMIM:300371.0004
Deletion	NC_000023.11:g.(?_153743201)_(153743755_?)del	ABCD1	Pathogenic	X	153008655	153009209	na	na	criteria provided, single submitter	-
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.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.1826A>G (p.Glu609Gly)	ABCD1	Likely pathogenic	X	153008486	153008486	A	G	criteria provided, single submitter	ClinGen:CA415116021
single nucleotide variant	NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)	ABCD1	Pathogenic	X	153008485	153008485	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P33897#VAR_000082,ClinGen:CA278461