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.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.2035T>A (p.Trp679Arg)	ABCD1	Likely pathogenic	X	153008986	153008986	T	A	criteria provided, single submitter	ClinGen:CA415118445
single nucleotide variant	NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser)	ABCD1	Likely pathogenic	X	152991608	152991608	A	C	criteria provided, single submitter	ClinGen:CA415100336
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.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.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.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.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.886T>C (p.Tyr296His)	ABCD1	Likely pathogenic	X	152991607	152991607	T	C	criteria provided, single submitter	ClinGen:CA278494
single nucleotide variant	NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly)	ABCD1	Likely pathogenic	X	153001685	153001685	C	G	criteria provided, single submitter	ClinGen:CA278458