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.887A>C (p.Tyr296Ser)	ABCD1	Likely pathogenic	X	152991608	152991608	A	C	criteria provided, single submitter	ClinGen:CA415100336
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.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.843C>A (p.Tyr281Ter)	ABCD1	Pathogenic/Likely pathogenic	X	152991564	152991564	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415100145
Deletion	NC_000023.10:g.(?_153008421)_(153009209_?)del	ABCD1	Pathogenic	X	153008421	153009209	na	na	criteria provided, single submitter	-
Indel	NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)	ABCD1	Pathogenic	X	152990737	152990743	AGGCCCC	CT	criteria provided, single submitter	ClinGen:CA658799880
single nucleotide variant	NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)	ABCD1	Pathogenic	X	153005624	153005624	C	T	criteria provided, single submitter	ClinGen:CA415111462
single nucleotide variant	NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	ABCD1	Pathogenic/Likely pathogenic	X	153005685	153005685	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415112044
single nucleotide variant	NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)	ABCD1	Pathogenic	X	153005609	153005609	C	G	criteria provided, single submitter	ClinGen:CA415111345
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