Unique variants in the CXorf65 gene

Information The variants shown are described using the NM_001025265.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-4935C>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - c.-4906A>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.-4104C>T r.(?) p.(=) - pathogenic g.70330510G>A - IL2RG(NM_000206.2):c.298C>T (p.Q100*) - IL2RG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.-4077G>A r.(?) p.(=) - benign, likely 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.-4074del r.(?) p.(=) - pathogenic g.70330480del g.71110630del - - IL2RG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-4074G>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.-3700T>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.-3627C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-2772C>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.-2770C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 2 - c.-2081_-2078del r.(?) p.(=) - pathogenic g.70328488_70328491del g.71108638_71108641del IL2RG(NM_000206.2):c.816_819delGATT (p.I273Sfs*20) - IL2RG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 - c.-2080_-2079insATCAA r.(?) p.(=) - pathogenic g.70328486_70328487insTGATT g.71108636_71108637insTGATT - - IL2RG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-2044C>T r.(?) p.(=) - VUS g.70328450G>A g.71108600G>A - - IL2RG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-1798C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-1337C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.64G>A r.(?) p.(Val22Ile) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.84C>T r.(?) p.(Ile28=) - likely benign g.70326218G>A - CXorf65(NM_001025265.2):c.84C>T (p.I28=) - IL2RG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.85C>A r.(?) p.(Arg29Ser) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.137C>T r.(?) p.(Thr46Met) - likely benign g.70325963G>A - CXorf65(NM_001025265.3):c.137C>T (p.T46M) - IL2RG_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.223G>A r.(?) p.(Val75Ile) - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.320-143C>T r.(=) p.(=) - VUS g.70324397G>A g.71104547G>A - - CXorf65_000004 - - - - Germline - - - - - Yu Sun
?/. 3 - c.417G>A r.(=), r.(?) p.(=) - VUS g.70324157C>T g.71104307C>T RP5-1091N2:417G>A A139A - CXorf65_000001 recurrent, found 55 times PubMed: Tarpey 2009 - - Germline - 55/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.435A>G r.(?) p.(Gln145=) - likely benign g.70323954T>C - CXorf65(NM_001025265.2):c.435A>G (p.Q145=) - IL2RG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.546G>T r.(?) p.(Lys182Asn) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2523C>T r.(=) p.(=) - likely benign g.70321314G>A g.71101464G>A FOXO4(NM_005938.3):c.1234G>A (p.V412I) - FOXO4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2905T>A r.(=) p.(=) - likely benign g.70320932A>T g.71101082A>T FOXO4(NM_005938.3):c.852A>T (p.E284D) - FOXO4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*3258C>G r.(=) p.(=) - VUS g.70320579G>C - FOXO4(NM_005938.3):c.499G>C (p.V167L) - FOXO4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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