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.758-1G>A	IL2RG	Pathogenic	X	70328546	70328546	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603506
single nucleotide variant	NM_000206.3(IL2RG):c.924+1G>A	IL2RG	Pathogenic	X	70328126	70328126	C	T	reviewed by expert panel	ClinGen:CA10603688
single nucleotide variant	NM_000206.3(IL2RG):c.2T>C (p.Met1Thr)	IL2RG	Pathogenic	X	70331388	70331388	A	G	criteria provided, single submitter	ClinGen:CA10603689
single nucleotide variant	NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)	IL2RG	Pathogenic	X	70331347	70331347	G	A	reviewed by expert panel	ClinGen:CA16043285
single nucleotide variant	NM_000206.3(IL2RG):c.718T>C (p.Trp240Arg)	IL2RG	Likely pathogenic	X	70329117	70329117	A	G	criteria provided, single submitter	ClinGen:CA16043330
single nucleotide variant	NM_000206.3(IL2RG):c.467C>T (p.Ala156Val)	IL2RG	Likely pathogenic	X	70330133	70330133	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608907
single nucleotide variant	NM_000206.3(IL2RG):c.260T>C (p.Leu87Pro)	IL2RG	Likely pathogenic	X	70330756	70330756	A	G	criteria provided, single submitter	ClinGen:CA16608908
single nucleotide variant	NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)	IL2RG	Pathogenic	X	70330814	70330814	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608976
single nucleotide variant	NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	IL2RG	Pathogenic/Likely pathogenic	X	70327714	70327714	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621482
single nucleotide variant	NM_000206.3(IL2RG):c.980A>G (p.Glu327Gly)	IL2RG	Likely pathogenic	X	70327716	70327716	T	C	criteria provided, single submitter	ClinGen:CA16621483

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