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
single nucleotide variant	NM_004937.3(CTNS):c.681G>A (p.Glu227=)	CTNS	Pathogenic	17	3560089	3560089	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)	CTNS	Likely pathogenic	17	3560000	3560000	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.61+1G>A	CTNS	Likely pathogenic	17	3543562	3543562	G	A	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.320_323del (p.Asn107fs)	CTNS	Likely pathogenic	17	3558384	3558387	CCAAT	C	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.20del (p.Thr7fs)	CTNS	Likely pathogenic	17	3543520	3543520	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.62-2A>G	CTNS	Likely pathogenic	17	3550736	3550736	A	G	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	CTNS	Pathogenic/Likely pathogenic	17	3543537	3543537	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.-19-1G>A	CTNS	Likely pathogenic	17	3543481	3543481	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.971-12G>A	CTNS	Pathogenic	17	3563518	3563518	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291997
Deletion	NC_000017.11:g.(?_3636418)_(3656815_?)del	CTNS	Pathogenic	17	3539712	3560109	na	na	criteria provided, single submitter	-

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