Full data view for gene IL2RG

Information The variants shown are described using the NM_000206.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.49C>A r.(?) p.(Pro17Thr) Unknown - VUS g.70331341G>T g.71111491G>T IL2RG(NM_000206.2):c.49C>A (p.(Pro17Thr)) - IL2RG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78A>T r.(?) p.(Thr26=) Unknown - likely benign g.70331312T>A g.71111462T>A IL2RG(NM_000206.2):c.78A>T (p.T26=) - IL2RG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78A>T r.(?) p.(Thr26=) Unknown - likely benign g.70331312T>A - IL2RG(NM_000206.2):c.78A>T (p.T26=) - IL2RG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115+171_115+174dup r.(=) p.(=) Maternal (inferred) - VUS g.70331110_70331113dup g.71111260_71111263dup - - IL2RG_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.115+171_115+174dup r.(=) p.(=) Maternal (inferred) - VUS g.70331110_70331113dup g.71111260_71111263dup - - IL2RG_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.115+171_115+174dup r.(=) p.(=) Maternal (inferred) - VUS g.70331110_70331113dup g.71111260_71111263dup - - IL2RG_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.115+171_115+174dup r.(=) p.(=) Maternal (inferred) - VUS g.70331110_70331113dup g.71111260_71111263dup - - IL2RG_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.298C>T r.(?) p.(Gln100Ter) Unknown - pathogenic g.70330510G>A - IL2RG(NM_000206.2):c.298C>T (p.Q100*) - IL2RG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325G>A r.(?) p.(Glu109Lys) Unknown - benign g.70330483C>T g.71110633C>T IL2RG(NM_000206.2):c.325G>A (p.E109K) - IL2RG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325G>A r.(?) p.(Glu109Lys) Unknown - likely benign g.70330483C>T - IL2RG(NM_000206.2):c.325G>A (p.E109K) - IL2RG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.328del r.(?) p.(Glu110LysfsTer37) Unknown - pathogenic g.70330480del g.71110630del - - IL2RG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328G>T r.(?) p.(Glu110Ter) Unknown - VUS g.70330480C>A g.71110630C>A IL2RG(NM_000206.2):c.328G>T (p.E110*) - IL2RG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494T>G r.(?) p.(Leu165Arg) Unknown - VUS g.70330106A>C g.71110256A>C IL2RG(NM_000206.2):c.494T>G (p.(Leu165Arg)) - IL2RG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567C>T r.(?) p.(Tyr189=) Unknown - likely benign g.70330033G>A g.71110183G>A IL2RG(NM_000206.2):c.567C>T (p.Y189=) - IL2RG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.594+226dup r.(=) p.(=) Unknown - VUS g.70329795dup g.71109945dup - - IL2RG_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.598C>T r.(?) p.(Gln200Ter) Maternal (confirmed) - likely pathogenic (recessive) g.70329237G>A g.71109387G>A - - IL2RG_000029 ACMG PVS1, PM2, PP3 PubMed: Schuermans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat5 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - - - - 1 Johan den Dunnen
?/. - c.600A>C r.(?) p.(Gln200His) Unknown - VUS g.70329235T>G - - - IL2RG_000026 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.657C>A r.(?) p.(Tyr219Ter) Unknown - VUS g.70329178G>T g.71109328G>T IL2RG(NM_000206.2):c.657C>A (p.Y219*) - IL2RG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659C>T r.(?) p.(Thr220Met) Unknown - VUS g.70329176G>A g.71109326G>A IL2RG(NM_000206.2):c.659C>T (p.T220M) - IL2RG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.710G>A r.(?) p.(Trp237*) Parent #1 - likely pathogenic g.70329125C>T g.71109275C>T - - IL2RG_000022 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193922350 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.816_819del r.(?) p.(Ile273SerfsTer20) Unknown - pathogenic g.70328488_70328491del g.71108638_71108641del IL2RG(NM_000206.2):c.816_819delGATT (p.I273Sfs*20), IL2RG(NM_000206.3):c.816_819delGATT (p.I273Sfs*20) - IL2RG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.816_819del r.(?) p.(Ile273SerfsTer20) Unknown - pathogenic g.70328488_70328491del g.71108638_71108641del IL2RG(NM_000206.2):c.816_819delGATT (p.I273Sfs*20), IL2RG(NM_000206.3):c.816_819delGATT (p.I273Sfs*20) - IL2RG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.817_818insATCAA r.(?) p.(Ile273AsnfsTer23) Unknown - pathogenic g.70328486_70328487insTGATT g.71108636_71108637insTGATT - - IL2RG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.853C>T r.(?) p.(Arg285Trp) Unknown - VUS g.70328450G>A g.71108600G>A - - IL2RG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855-8C>T r.(=) p.(=) Unknown - likely benign g.70328204G>A g.71108354G>A IL2RG(NM_000206.2):c.855-8C>T - IL2RG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953C>T r.(?) p.(Ala318Val) Unknown - likely benign g.70327743G>A g.71107893G>A IL2RG(NM_000206.2):c.953C>T (p.(Ala318Val)) - IL2RG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1105A>G r.(?) p.(Thr369Ala) Parent #1 - VUS g.70327591T>C g.71107741T>C T369A - IL2RG_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.*1348G>A r.(=) p.(=) Unknown - likely benign g.70326238C>T g.71106388C>T CXorf65(NM_001025265.2):c.64G>A (p.V22I) - IL2RG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1368C>T r.(=) p.(=) Unknown - likely benign g.70326218G>A - CXorf65(NM_001025265.2):c.84C>T (p.I28=) - IL2RG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1369C>A r.(=) p.(=) Unknown - likely benign g.70326217G>T g.71106367G>T CXorf65(NM_001025265.2):c.85C>A (p.R29S) - IL2RG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1623C>T r.(=) p.(=) Unknown - likely benign g.70325963G>A - CXorf65(NM_001025265.3):c.137C>T (p.T46M) - IL2RG_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1709G>A r.(=) p.(=) Unknown - likely benign g.70325877C>T g.71106027C>T CXorf65(NM_001025265.2):c.223G>A (p.(Val75Ile)) - IL2RG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3632A>G r.(=) p.(=) Unknown - likely benign g.70323954T>C - CXorf65(NM_001025265.2):c.435A>G (p.Q145=) - IL2RG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3743G>T r.(=) p.(=) Unknown - likely benign g.70323843C>A g.71103993C>A CXorf65(NM_001025265.2):c.546G>T (p.K182N) - CXorf65_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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