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
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
Deletion	NC_000023.11:g.(?_153742977)_(153743745_?)del	ABCD1	Pathogenic	X	153008431	153009199	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_153008421)_(153009209_?)del	ABCD1	Pathogenic	X	153008421	153009209	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1780+2T>G	ABCD1	Pathogenic	X	153006175	153006175	T	G	criteria provided, single submitter	ClinGen:CA415113455
single nucleotide variant	NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)	ABCD1	Pathogenic/Likely pathogenic	X	153006165	153006165	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415113345
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