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.1992-2A>G	ABCD1	Pathogenic	X	153008941	153008941	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278497
single nucleotide variant	NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	ABCD1	Pathogenic/Likely pathogenic	X	153008788	153008788	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	ABCD1	Pathogenic	X	153008787	153008787	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)	ABCD1	Likely pathogenic	X	153008782	153008782	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)	ABCD1	Likely pathogenic	X	153008728	153008728	A	G	criteria provided, single submitter	-
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