Unique variants in gene IL2RG

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

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.49C>A VUS r.(?) p.(Pro17Thr) g.70331341G>T - IL2RG(NM_000206.2):c.49C>A (p.(Pro17Thr)) - IL2RG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.78A>T likely benign r.(?) p.(=) g.70331312T>A - IL2RG(NM_000206.2):c.78A>T (p.T26=) - IL2RG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.115+161_115+162insTTCT - - p.(=) g.70331113_70331114insAGAA g.71111263_71111264insAGAA - - IL2RG_000002 - - - - Germline - - - - - Yu Sun
?/. 2 - c.115+174_115+175insTCTT - - p.(=) g.70331100_70331101insAAGA g.71111250_71111251insAAGA - - IL2RG_000004 - - - - Germline - - - - - Yu Sun
-/. 1 - c.325G>A benign r.(?) p.(Glu109Lys) g.70330483C>T - IL2RG(NM_000206.2):c.325G>A (p.E109K) - IL2RG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.328del pathogenic r.(?) p.(Glu110Lysfs*37) g.70330480del - IL2RG(NM_000206.2):c.328del (p.(Glu110fs)) - IL2RG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.328G>T VUS r.(?) p.(Glu110*) g.70330480C>A - IL2RG(NM_000206.2):c.328G>T (p.E110*) - IL2RG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.494T>G VUS r.(?) p.(Leu165Arg) g.70330106A>C - IL2RG(NM_000206.2):c.494T>G (p.(Leu165Arg)) - IL2RG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.567C>T likely benign r.(?) p.(=) g.70330033G>A - IL2RG(NM_000206.2):c.567C>T (p.Y189=) - IL2RG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.594+211dup - - p.(=) g.70329795dup g.71109945dup - - IL2RG_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.657C>A VUS r.(?) p.(Tyr219*) g.70329178G>T - IL2RG(NM_000206.2):c.657C>A (p.Y219*) - IL2RG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.659C>T VUS r.(?) p.(Thr220Met) g.70329176G>A - IL2RG(NM_000206.2):c.659C>T (p.T220M) - IL2RG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.817_818insATCAA pathogenic r.(?) p.(Ile273Asnfs*23) g.70328486_70328487insTGATT - IL2RG(NM_000206.2):c.817_818insATCAA (p.Ile273fs) - IL2RG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.853C>T VUS r.(?) p.(Arg285Trp) g.70328450G>A - IL2RG(NM_000206.2):c.853C>T (p.(Arg285Trp)) - IL2RG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.855-8C>T likely benign r.(=) p.(=) g.70328204G>A - IL2RG(NM_000206.2):c.855-8C>T - IL2RG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 8 c.1105A>G - r.(?) p.(Thr369Ala) g.70327591T>C - T369A - IL2RG_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.*1348G>A likely benign r.(=) p.(=) g.70326238C>T - CXorf65(NM_001025265.2):c.64G>A (p.V22I) - IL2RG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*1369C>A likely benign r.(=) p.(=) g.70326217G>T - CXorf65(NM_001025265.2):c.85C>A (p.R29S) - IL2RG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*1709G>A likely benign r.(=) p.(=) g.70325877C>T - CXorf65(NM_001025265.2):c.223G>A (p.(Val75Ile)) - IL2RG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3743G>T likely benign r.(=) p.(=) g.70323843C>A - CXorf65(NM_001025265.2):c.546G>T (p.K182N) - CXorf65_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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