原発性免疫不全症候群 - MGenReviews

原発性免疫不全症候群

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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	NM_000206.3(IL2RG):c.328del (p.Glu110fs)	IL2RG	Pathogenic	X	70330480	70330480	TC	T	criteria provided, single submitter	ClinGen:CA16621486
single nucleotide variant	NM_000206.3(IL2RG):c.391C>T (p.Gln131Ter)	IL2RG	Pathogenic	X	70330417	70330417	G	A	criteria provided, single submitter	ClinGen:CA413496661
Duplication	NM_000206.3(IL2RG):c.207_211dup (p.Asn71delinsThrTer)	IL2RG	Pathogenic	X	70330804	70330805	T	TTCATG	criteria provided, single submitter	ClinGen:CA645373305
Duplication	NM_000206.3(IL2RG):c.258_261dup (p.His88fs)	IL2RG	Pathogenic	X	70330754	70330755	G	GCAGA	criteria provided, single submitter	ClinGen:CA658653874
single nucleotide variant	NM_000206.3(IL2RG):c.846G>A (p.Trp282Ter)	IL2RG	Pathogenic	X	70328457	70328457	C	T	criteria provided, single submitter	ClinGen:CA413628521
single nucleotide variant	NM_000206.3(IL2RG):c.421C>T (p.Gln141Ter)	IL2RG	Pathogenic	X	70330387	70330387	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA413496594
single nucleotide variant	NM_000206.3(IL2RG):c.720G>A (p.Trp240Ter)	IL2RG	Pathogenic	X	70329115	70329115	C	T	criteria provided, single submitter	ClinGen:CA413495887
single nucleotide variant	NM_000206.3(IL2RG):c.344G>A (p.Cys115Tyr)	IL2RG	Likely pathogenic	X	70330464	70330464	C	T	criteria provided, single submitter	ClinGen:CA413496775
Deletion	NM_000206.3(IL2RG):c.903_910del (p.Glu302fs)	IL2RG	Pathogenic	X	70328141	70328148	TGGTATTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658659007
single nucleotide variant	NM_000206.3(IL2RG):c.562C>T (p.Gln188Ter)	IL2RG	Pathogenic	X	70330038	70330038	G	A	criteria provided, single submitter	ClinGen:CA413496265

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