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.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.2035T>A (p.Trp679Arg)	ABCD1	Likely pathogenic	X	153008986	153008986	T	A	criteria provided, single submitter	ClinGen:CA415118445
Duplication	NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)	ABCD1	Likely pathogenic	X	153008960	153008961	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)	ABCD1	Pathogenic	X	153008949	153008949	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415118105
Insertion	NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)	ABCD1	Likely pathogenic	X	153008948	153008949	A	ACG	criteria provided, single submitter	ClinGen:CA658659061
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	-