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
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.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.1826A>G (p.Glu609Gly)	ABCD1	Likely pathogenic	X	153008486	153008486	A	G	criteria provided, single submitter	ClinGen:CA415116021
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.320T>C (p.Leu107Pro)	ABCD1	Likely pathogenic	X	152991041	152991041	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala)	ABCD1	Likely pathogenic	X	152991383	152991383	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)	ABCD1	Likely pathogenic	X	152990801	152990801	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)	ABCD1	Likely pathogenic	X	153001649	153001649	C	T	criteria provided, multiple submitters, no conflicts	-