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

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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_000206.3(IL2RG):c.270-1G>T	IL2RG	Pathogenic/Likely pathogenic	X	70330539	70330539	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260410
single nucleotide variant	NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)	IL2RG	Pathogenic/Likely pathogenic	X	70330494	70330494	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260411,UniProtKB:P31785#VAR_002674
single nucleotide variant	NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)	IL2RG	Pathogenic/Likely pathogenic	X	70330145	70330145	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA260413
single nucleotide variant	NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser)	IL2RG	Likely pathogenic	X	70329173	70329173	A	G	criteria provided, single submitter	ClinGen:CA260416
single nucleotide variant	NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter)	IL2RG	Likely pathogenic	X	70329125	70329125	C	T	criteria provided, single submitter	ClinGen:CA260419
single nucleotide variant	NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)	IL2RG	Pathogenic	X	70328186	70328186	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260422,OMIM:308380.0002
single nucleotide variant	NM_000206.3(IL2RG):c.677G>A (p.Arg226His)	IL2RG	Pathogenic	X	70329158	70329158	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA358793,UniProtKB:P31785#VAR_002691
single nucleotide variant	NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)	IL2RG	Pathogenic	X	70329159	70329159	G	A	reviewed by expert panel	ClinGen:CA358784,UniProtKB:P31785#VAR_002690
single nucleotide variant	NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)	IL2RG	Pathogenic/Likely pathogenic	X	70329165	70329165	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358778,UniProtKB:P31785#VAR_002689
single nucleotide variant	NM_000206.3(IL2RG):c.270-15A>G	IL2RG	Pathogenic	X	70330553	70330553	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588799

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