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.(?_3657995)_(3660744_?)del	CTNS	Pathogenic	17	3561289	3564038	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)	CTNS	Likely pathogenic	17	3563661	3563661	T	C	criteria provided, single submitter	ClinGen:CA16041839
single nucleotide variant	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS	Pathogenic	17	3563574	3563574	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278067,UniProtKB:O60931#VAR_010695,OMIM:606272.0015
Duplication	NM_004937.3(CTNS):c.971-1dup	CTNS	Likely pathogenic	17	3563528	3563529	A	AG	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
single nucleotide variant	NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)	CTNS	Pathogenic	17	3563268	3563268	C	G	criteria provided, single submitter	ClinGen:CA253164,UniProtKB:O60931#VAR_010288,OMIM:606272.0016
single nucleotide variant	NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)	CTNS	Likely pathogenic	17	3563243	3563243	A	G	criteria provided, single submitter	ClinGen:CA16620398
single nucleotide variant	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS	Pathogenic	17	3563221	3563221	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291955,UniProtKB:O60931#VAR_010692
Duplication	NM_004937.3(CTNS):c.926dup (p.Ser310fs)	CTNS	Pathogenic/Likely pathogenic	17	3563220	3563221	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA278465
single nucleotide variant	NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)	CTNS	Pathogenic	17	3563189	3563189	G	A	criteria provided, multiple submitters, no conflicts	-

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