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.488G>A (p.Arg163His)	ABCD1	Likely pathogenic	X	152991209	152991209	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043184
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.565C>T (p.Arg189Trp)	ABCD1	Pathogenic/Likely pathogenic	X	152991286	152991286	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415099128
single nucleotide variant	NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	ABCD1	Pathogenic/Likely pathogenic	X	152991482	152991482	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415099842
Deletion	NM_000033.4(ABCD1):c.1440del (p.Ile481fs)	ABCD1	Pathogenic	X	153002654	153002654	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509234
single nucleotide variant	NM_000033.4(ABCD1):c.1082-1G>A	ABCD1	Likely pathogenic	X	153001565	153001565	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415104345
single nucleotide variant	NM_000033.4(ABCD1):c.2037G>A (p.Trp679Ter)	ABCD1	Likely pathogenic	X	153008988	153008988	G	A	criteria provided, single submitter	ClinGen:CA415118457
single nucleotide variant	NM_000033.4(ABCD1):c.311G>A (p.Arg104His)	ABCD1	Pathogenic/Likely pathogenic	X	152991032	152991032	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415098597
single nucleotide variant	NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)	ABCD1	Likely pathogenic	X	152991163	152991163	A	T	criteria provided, single submitter	ClinGen:CA415098863
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