All variants in the TNFAIP3 gene

Information The variants shown are described using the NM_006290.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

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     
-?/. - c.174T>G r.(?) p.(Pro58=) - likely benign g.138192538T>G g.137871401T>G TNFAIP3(NM_001270508.1):c.174T>G (p.P58=) - TNFAIP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.260G>A r.(?) p.(Arg87Gln) - VUS g.138192624G>A g.137871487G>A TNFAIP3(NM_001270508.2):c.260G>A (p.R87Q) - TNFAIP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.269G>A r.(?) p.(Arg90Gln) - VUS g.138192633G>A - - - TNFAIP3_000030 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.282G>A r.(?) p.(Ala94=) - likely benign g.138192646G>A g.137871509G>A TNFAIP3(NM_001270507.1):c.282G>A (p.A94=) - TNFAIP3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.295+8T>C r.(=) p.(=) - likely benign g.138192667T>C g.137871530T>C TNFAIP3(NM_001270508.1):c.295+8T>C, TNFAIP3(NM_001270508.2):c.295+8T>C - TNFAIP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.295+8T>C r.(=) p.(=) - likely benign g.138192667T>C g.137871530T>C TNFAIP3(NM_001270508.1):c.295+8T>C, TNFAIP3(NM_001270508.2):c.295+8T>C - TNFAIP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.295+11T>C r.(=) p.(=) - likely benign g.138192670T>C g.137871533T>C TNFAIP3(NM_001270508.1):c.295+11T>C - TNFAIP3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.305A>G r.(?) p.(Asn102Ser) - VUS g.138195991A>G g.137874854A>G - - TNFAIP3_000020 no interpretation available; 142 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146534657 Germline - 142/2794 individuals - 0 - Mohammed Faruq
?/. - c.305A>G r.(?) p.(Asn102Ser) - VUS g.138195991A>G g.137874854A>G - - TNFAIP3_000020 no interpretation available; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146534657 Germline - 1/2794 individuals - 0 - Mohammed Faruq
-?/. - c.322A>G r.(?) p.(Thr108Ala) - likely benign g.138196008A>G g.137874871A>G TNFAIP3(NM_001270508.1):c.322A>G (p.T108A), TNFAIP3(NM_001270508.2):c.322A>G (p.T108A) - TNFAIP3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.322A>G r.(?) p.(Thr108Ala) - likely benign g.138196008A>G g.137874871A>G TNFAIP3(NM_001270508.1):c.322A>G (p.T108A), TNFAIP3(NM_001270508.2):c.322A>G (p.T108A) - TNFAIP3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.334A>G r.(?) p.(Met112Val) - VUS g.138196020A>G g.137874883A>G TNFAIP3(NM_001270507.1):c.334A>G (p.M112V) - TNFAIP3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.380T>G r.(?) p.(Phe127Cys) - VUS g.138196066T>G g.137874929T>G - - TNFAIP3_000021 no interpretation available; 175 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2230926 Germline - 175/2795 individuals - 0 - Mohammed Faruq
?/. - c.380T>G r.(?) p.(Phe127Cys) - VUS g.138196066T>G g.137874929T>G - - TNFAIP3_000021 no interpretation available; 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2230926 Germline - 2/2795 individuals - 0 - Mohammed Faruq
-/. - c.380T>G r.(?) p.(Phe127Cys) - benign g.138196066T>G - TNFAIP3(NM_006290.3):c.380T>G (p.F127C) - TNFAIP3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.465G>A r.(?) p.(Thr155=) - likely benign g.138196151G>A - TNFAIP3(NM_001270508.1):c.465G>A (p.T155=) - TNFAIP3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.509A>G r.(?) p.(Asn170Ser) - likely benign g.138196847A>G g.137875710A>G TNFAIP3(NM_001270508.2):c.509A>G (p.N170S) - TNFAIP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.608T>G r.(?) p.(Leu203Arg) - VUS g.138196946T>G g.137875809T>G - - TNFAIP3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.619A>C r.(?) p.(Ile207Leu) - likely benign g.138196957A>C g.137875820A>C TNFAIP3(NM_001270508.2):c.619A>C (p.I207L) - TNFAIP3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.619A>C r.(?) p.(Ile207Leu) - VUS g.138196957A>C - - - TNFAIP3_000016 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.801G>T r.(?) p.(Gly267=) - likely benign g.138197299G>T g.137876162G>T TNFAIP3(NM_001270508.2):c.801G>T (p.G267=) - TNFAIP3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.966T>G r.(?) p.(Thr322=) - likely benign g.138198373T>G g.137877236T>G TNFAIP3(NM_001270507.1):c.966T>G (p.T322=) - TNFAIP3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1294G>A r.(?) p.(Gly432Ser) - VUS g.138199876G>A - TNFAIP3(NM_001270507.1):c.1294G>A (p.G432S) - TNFAIP3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1309del r.(?) p.(Ala437ProfsTer40) - likely pathogenic g.138199891del - - - TNFAIP3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1398C>G r.(?) p.(Ser466Arg) - VUS g.138199980C>G - - - TNFAIP3_000031 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.1634C>T r.(?) p.(Ala545Val) - likely benign g.138200216C>T g.137879079C>T TNFAIP3(NM_001270508.2):c.1634C>T (p.A545V) - TNFAIP3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1669_1675dup r.(?) p.(Cys559SerfsTer115) - VUS g.138200251_138200257dup g.137879114_137879120dup TNFAIP3(NM_001270508.2):c.1669_1675dupCCTTCCT (p.C559Sfs*115) - TNFAIP3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1728G>A r.(?) p.(Pro576=) - likely benign g.138200310G>A g.137879173G>A TNFAIP3(NM_001270507.1):c.1728G>A (p.P576=) - TNFAIP3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1809G>T r.(?) p.(Gly603=) - VUS g.138200391G>T g.137879254G>T TNFAIP3(NM_001270508.2):c.1809G>T (p.G603=) - TNFAIP3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1939A>C r.(?) p.(Thr647Pro) - likely benign g.138201240A>C g.137880103A>C TNFAIP3(NM_001270507.1):c.1939A>C (p.T647P), TNFAIP3(NM_001270508.1):c.1939A>C (p.T647P) - TNFAIP3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1939A>C r.(?) p.(Thr647Pro) - likely benign g.138201240A>C - TNFAIP3(NM_001270507.1):c.1939A>C (p.T647P), TNFAIP3(NM_001270508.1):c.1939A>C (p.T647P) - TNFAIP3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1958del r.(?) p.(Asn653ThrfsTer44) - likely pathogenic g.138201259del g.137880122del TNFAIP3(NM_001270508.1):c.1958delA (p.N653Tfs*44) - TNFAIP3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2090G>A r.(?) p.(Arg697Lys) - VUS g.138202173G>A g.137881036G>A TNFAIP3(NM_001270508.1):c.2090G>A (p.R697K), TNFAIP3(NM_001270508.2):c.2090G>A (p.R697K) - TNFAIP3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2090G>A r.(?) p.(Arg697Lys) - likely benign g.138202173G>A g.137881036G>A TNFAIP3(NM_001270508.1):c.2090G>A (p.R697K), TNFAIP3(NM_001270508.2):c.2090G>A (p.R697K) - TNFAIP3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2231G>A r.(?) p.(Gly744Asp) - likely benign g.138202314G>A g.137881177G>A TNFAIP3(NM_001270508.1):c.2231G>A (p.G744D), TNFAIP3(NM_001270508.2):c.2231G>A (p.G744D) - TNFAIP3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2231G>A r.(?) p.(Gly744Asp) - likely benign g.138202314G>A g.137881177G>A TNFAIP3(NM_001270508.1):c.2231G>A (p.G744D), TNFAIP3(NM_001270508.2):c.2231G>A (p.G744D) - TNFAIP3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2246G>A r.(?) p.(Arg749Gln) - VUS g.138202329G>A - - - TNFAIP3_000029 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.2269C>A r.(?) p.(Pro757Thr) - likely benign g.138202352C>A g.137881215C>A TNFAIP3(NM_001270508.1):c.2269C>A (p.P757T), TNFAIP3(NM_001270508.2):c.2269C>A (p.P757T) - TNFAIP3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2269C>A r.(?) p.(Pro757Thr) - likely benign g.138202352C>A g.137881215C>A TNFAIP3(NM_001270508.1):c.2269C>A (p.P757T), TNFAIP3(NM_001270508.2):c.2269C>A (p.P757T) - TNFAIP3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2364G>A r.(?) p.(Met788Ile) - likely benign g.138202447G>A g.137881310G>A TNFAIP3(NM_001270507.1):c.2364G>A (p.M788I) - TNFAIP3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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