副腎白質ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.900G>C (p.Glu300Asp)	ABCD1	Likely pathogenic	X	152991621	152991621	G	C	criteria provided, single submitter	-
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.1973C>T (p.Thr658Ile)	ABCD1	Likely pathogenic	X	153008782	153008782	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)	ABCD1	Likely pathogenic	X	153001670	153001670	G	A	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	-
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.662A>C (p.Asp221Ala)	ABCD1	Likely pathogenic	X	152991383	152991383	A	C	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.1866-1G>A	ABCD1	Likely pathogenic	X	153008674	153008674	G	A	criteria provided, single submitter	-
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