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
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.1597A>C (p.Lys533Gln)	ABCD1	Pathogenic/Likely pathogenic	X	153005654	153005654	A	C	criteria provided, multiple submitters, no conflicts	-
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.593C>T (p.Thr198Met)	ABCD1	Pathogenic/Likely pathogenic	X	152991314	152991314	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)	ABCD1	Pathogenic/Likely pathogenic	X	152991208	152991208	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	-
Deletion	NM_000033.4(ABCD1):c.1225-7_1239del	ABCD1	Pathogenic	X	153001790	153001811	CCTCCCTCAGGTGACGGAGCTGG	C	criteria provided, single submitter	-
Deletion	NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs)	ABCD1	Pathogenic	X	153005677	153005684	TCTACATCC	T	criteria provided, single submitter	-