副腎白質ジストロフィー - MGenReviews

副腎白質ジストロフィー

小児・神経疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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.1978C>T (p.Arg660Trp)	ABCD1	Pathogenic	X	153008787	153008787	C	T	criteria provided, multiple submitters, no conflicts	-
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	-
Deletion	NM_000033.4(ABCD1):c.1203del (p.Ile402fs)	ABCD1	Pathogenic	X	153001686	153001686	CG	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	-
Deletion	NM_000033.4(ABCD1):c.1225-7_1239del	ABCD1	Pathogenic	X	153001790	153001811	CCTCCCTCAGGTGACGGAGCTGG	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.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.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.1165C>T (p.Arg389Cys)	ABCD1	Likely pathogenic	X	153001649	153001649	C	T	criteria provided, multiple submitters, no conflicts	-

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