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.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
Deletion	NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)	ABCD1	Pathogenic/Likely pathogenic	X	153008478	153008481	CGGGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799882
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.1802G>A (p.Trp601Ter)	ABCD1	Pathogenic	X	153008462	153008462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278410
single nucleotide variant	NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)	ABCD1	Pathogenic	X	153008444	153008444	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1781-1G>A	ABCD1	Pathogenic	X	153008440	153008440	G	A	criteria provided, single submitter	ClinGen:CA278516
single nucleotide variant	NM_000033.4(ABCD1):c.1780+2T>G	ABCD1	Pathogenic	X	153006175	153006175	T	G	criteria provided, single submitter	ClinGen:CA415113455