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.1660C>A (p.Arg554Ser)	ABCD1	Likely pathogenic	X	153006053	153006053	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278406
single nucleotide variant	NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)	ABCD1	Pathogenic	X	153006072	153006072	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278408,UniProtKB:P33897#VAR_000075
single nucleotide variant	NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	ABCD1	Pathogenic/Likely pathogenic	X	153006164	153006164	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278409,UniProtKB:P33897#VAR_009382
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.1866-10G>A	ABCD1	Pathogenic/Likely pathogenic	X	153008665	153008665	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278412,OMIM:300371.0004
Deletion	NM_000033.4(ABCD1):c.31_46del (p.Arg11fs)	ABCD1	Pathogenic	X	152990752	152990767	GCGGGGGAACACGCTGA	G	criteria provided, single submitter	ClinGen:CA278413
single nucleotide variant	NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)	ABCD1	Pathogenic/Likely pathogenic	X	152991067	152991067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278414,UniProtKB:P33897#VAR_000030
single nucleotide variant	NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)	ABCD1	Pathogenic	X	152991127	152991127	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278415
Deletion	NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	ABCD1	Pathogenic/Likely pathogenic	X	152991216	152991238	GTCTGGTGGCCCACGCCTACCGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278417
Duplication	NM_000033.4(ABCD1):c.253dup (p.Arg85fs)	ABCD1	Pathogenic	X	152990969	152990970	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278445