シスチノーシス - MGenReviews

シスチノーシス

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
Deletion	NC_000017.11:g.(?_3647434)_(3648941_?)del	CTNS	Pathogenic	17	3550728	3552235	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.140+1G>T	CTNS	Pathogenic	17	3550817	3550817	G	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647424)_(3648951_?)del	CTNS	Pathogenic	17	3550718	3552245	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3657995)_(3660744_?)del	CTNS	Pathogenic	17	3561289	3564038	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.682-1G>T	CTNS	Pathogenic/Likely pathogenic	17	3561298	3561298	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_3636418)_(3658185_?)del	CTNS	Pathogenic	17	3539712	3561479	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.62-1G>A	CTNS	Pathogenic	17	3550737	3550737	G	A	criteria provided, single submitter	-

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