ClinVar Miner

List of variants in gene RANBP2 reported as uncertain significance for Encephalopathy, acute, infection-induced, 3, suceptibility to

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Total variants: 125
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HGVS dbSNP
NM_006267.5(RANBP2):c.1043G>T (p.Cys348Phe)
NM_006267.5(RANBP2):c.1216A>G (p.Ile406Val) rs1251336337
NM_006267.5(RANBP2):c.1252G>T (p.Asp418Tyr)
NM_006267.5(RANBP2):c.1270G>A (p.Val424Ile) rs761793907
NM_006267.5(RANBP2):c.1283G>A (p.Arg428Gln)
NM_006267.5(RANBP2):c.1398T>G (p.His466Gln) rs746894026
NM_006267.5(RANBP2):c.1478A>C (p.Tyr493Ser) rs1553489117
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) rs377029115
NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val)
NM_006267.5(RANBP2):c.1632-10_1632-1delinsAATTTTTAT rs1553489293
NM_006267.5(RANBP2):c.1718C>G (p.Ala573Gly) rs141122553
NM_006267.5(RANBP2):c.1738G>A (p.Glu580Lys) rs1057956
NM_006267.5(RANBP2):c.1787G>A (p.Arg596Gln) rs753106584
NM_006267.5(RANBP2):c.1918-1G>A rs1193113074
NM_006267.5(RANBP2):c.1918-3del rs1553489983
NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala)
NM_006267.5(RANBP2):c.2084A>C (p.Glu695Ala) rs148298842
NM_006267.5(RANBP2):c.20A>C (p.Asp7Ala)
NM_006267.5(RANBP2):c.2129A>C (p.Tyr710Ser) rs1553490292
NM_006267.5(RANBP2):c.2147A>G (p.Asp716Gly) rs771554716
NM_006267.5(RANBP2):c.2164A>T (p.Ile722Leu) rs746264200
NM_006267.5(RANBP2):c.2182A>G (p.Asn728Asp) rs774474793
NM_006267.5(RANBP2):c.2188T>G (p.Ser730Ala) rs1558906678
NM_006267.5(RANBP2):c.2243C>T (p.Ser748Leu) rs200940828
NM_006267.5(RANBP2):c.2314G>C (p.Asp772His)
NM_006267.5(RANBP2):c.2369G>A (p.Ser790Asn) rs1558908320
NM_006267.5(RANBP2):c.2383-3T>C rs1553490926
NM_006267.5(RANBP2):c.2392A>G (p.Lys798Glu) rs753165103
NM_006267.5(RANBP2):c.2410G>A (p.Ala804Thr) rs757404634
NM_006267.5(RANBP2):c.2469A>G (p.Lys823=)
NM_006267.5(RANBP2):c.2603-3T>C rs2912832
NM_006267.5(RANBP2):c.2894A>G (p.Asn965Ser) rs201447642
NM_006267.5(RANBP2):c.2904G>C (p.Gln968His) rs149515235
NM_006267.5(RANBP2):c.297G>T (p.Lys99Asn)
NM_006267.5(RANBP2):c.2995A>G (p.Ile999Val)
NM_006267.5(RANBP2):c.2997A>G (p.Ile999Met) rs201152981
NM_006267.5(RANBP2):c.3010A>G (p.Thr1004Ala) rs1264589423
NM_006267.5(RANBP2):c.3035G>T (p.Gly1012Val) rs149826319
NM_006267.5(RANBP2):c.3129C>G (p.Asp1043Glu)
NM_006267.5(RANBP2):c.3161A>G (p.Gln1054Arg) rs1553494404
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885
NM_006267.5(RANBP2):c.3228_3229delinsAA (p.Gln1077Lys) rs1553494518
NM_006267.5(RANBP2):c.3242A>G (p.Tyr1081Cys) rs753740982
NM_006267.5(RANBP2):c.3273A>T (p.Gln1091His)
NM_006267.5(RANBP2):c.3376C>T (p.Arg1126Trp)
NM_006267.5(RANBP2):c.3380G>A (p.Arg1127Gln)
NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu)
NM_006267.5(RANBP2):c.3469G>C (p.Asp1157His)
NM_006267.5(RANBP2):c.3582C>A (p.Phe1194Leu) rs201567166
NM_006267.5(RANBP2):c.3653A>G (p.Asn1218Ser) rs146109021
NM_006267.5(RANBP2):c.3860C>T (p.Thr1287Ile) rs764830622
NM_006267.5(RANBP2):c.3934G>A (p.Val1312Ile) rs372722891
NM_006267.5(RANBP2):c.3967G>T (p.Val1323Leu) rs543164039
NM_006267.5(RANBP2):c.4042G>A (p.Val1348Ile)
NM_006267.5(RANBP2):c.4139C>G (p.Pro1380Arg)
NM_006267.5(RANBP2):c.4177A>G (p.Thr1393Ala)
NM_006267.5(RANBP2):c.4216G>A (p.Asp1406Asn)
NM_006267.5(RANBP2):c.4317G>C (p.Gln1439His) rs375070272
NM_006267.5(RANBP2):c.432A>G (p.Glu144=) rs915340430
NM_006267.5(RANBP2):c.4442G>A (p.Gly1481Glu) rs115106428
NM_006267.5(RANBP2):c.4508A>T (p.Gln1503Leu)
NM_006267.5(RANBP2):c.4514C>T (p.Pro1505Leu)
NM_006267.5(RANBP2):c.467C>G (p.Ser156Ter)
NM_006267.5(RANBP2):c.4801G>T (p.Gly1601Ter) rs1553496038
NM_006267.5(RANBP2):c.4972T>G (p.Phe1658Val) rs755016899
NM_006267.5(RANBP2):c.4976A>G (p.Glu1659Gly)
NM_006267.5(RANBP2):c.4994_4996AGG[1] (p.Glu1666del) rs1553496202
NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg) rs776380363
NM_006267.5(RANBP2):c.5096C>T (p.Ser1699Phe) rs1553496280
NM_006267.5(RANBP2):c.5189G>A (p.Cys1730Tyr)
NM_006267.5(RANBP2):c.520G>T (p.Val174Leu)
NM_006267.5(RANBP2):c.5210A>G (p.Asn1737Ser)
NM_006267.5(RANBP2):c.526C>T (p.Arg176Cys) rs543844917
NM_006267.5(RANBP2):c.5323T>C (p.Phe1775Leu)
NM_006267.5(RANBP2):c.5356G>T (p.Asp1786Tyr)
NM_006267.5(RANBP2):c.5452C>T (p.Pro1818Ser) rs1291246599
NM_006267.5(RANBP2):c.560A>G (p.His187Arg) rs2693122
NM_006267.5(RANBP2):c.5653A>G (p.Thr1885Ala) rs1553496835
NM_006267.5(RANBP2):c.5929A>G (p.Lys1977Glu) rs1558924921
NM_006267.5(RANBP2):c.5983G>A (p.Asp1995Asn) rs1206917390
NM_006267.5(RANBP2):c.5996A>T (p.Asp1999Val)
NM_006267.5(RANBP2):c.6116G>A (p.Arg2039Gln)
NM_006267.5(RANBP2):c.6272C>T (p.Thr2091Ile) rs1558925587
NM_006267.5(RANBP2):c.6431G>A (p.Arg2144Gln)
NM_006267.5(RANBP2):c.6461C>G (p.Pro2154Arg) rs751375908
NM_006267.5(RANBP2):c.6592G>T (p.Gly2198Cys)
NM_006267.5(RANBP2):c.6613G>C (p.Gly2205Arg) rs755789696
NM_006267.5(RANBP2):c.6844G>T (p.Ala2282Ser)
NM_006267.5(RANBP2):c.6856C>G (p.Gln2286Glu) rs1553497729
NM_006267.5(RANBP2):c.6857A>G (p.Gln2286Arg)
NM_006267.5(RANBP2):c.6881A>T (p.Asp2294Val)
NM_006267.5(RANBP2):c.6988C>A (p.Gln2330Lys)
NM_006267.5(RANBP2):c.702C>G (p.Asp234Glu)
NM_006267.5(RANBP2):c.7066G>A (p.Asp2356Asn) rs377422691
NM_006267.5(RANBP2):c.715T>A (p.Tyr239Asn) rs1405042231
NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe) rs200750445
NM_006267.5(RANBP2):c.739C>T (p.Leu247Phe) rs1179200305
NM_006267.5(RANBP2):c.73A>G (p.Lys25Glu)
NM_006267.5(RANBP2):c.746C>T (p.Thr249Ile) rs769368705
NM_006267.5(RANBP2):c.7513C>A (p.Pro2505Thr)
NM_006267.5(RANBP2):c.7690G>T (p.Ala2564Ser)
NM_006267.5(RANBP2):c.7697G>A (p.Ser2566Asn) rs1196915435
NM_006267.5(RANBP2):c.771A>T (p.Glu257Asp)
NM_006267.5(RANBP2):c.7760A>G (p.Gln2587Arg) rs1553498323
NM_006267.5(RANBP2):c.7805C>T (p.Thr2602Met) rs200438979
NM_006267.5(RANBP2):c.7844A>G (p.Glu2615Gly)
NM_006267.5(RANBP2):c.7911A>T (p.Glu2637Asp) rs368160432
NM_006267.5(RANBP2):c.7933A>C (p.Lys2645Gln)
NM_006267.5(RANBP2):c.7966A>G (p.Thr2656Ala) rs148596328
NM_006267.5(RANBP2):c.8188A>C (p.Lys2730Gln) rs747890333
NM_006267.5(RANBP2):c.8411G>T (p.Ser2804Ile)
NM_006267.5(RANBP2):c.8484T>A (p.Asp2828Glu)
NM_006267.5(RANBP2):c.8491A>T (p.Ser2831Cys) rs368434436
NM_006267.5(RANBP2):c.8621A>G (p.Asn2874Ser) rs1553502323
NM_006267.5(RANBP2):c.8729T>C (p.Ile2910Thr)
NM_006267.5(RANBP2):c.873G>A (p.Met291Ile)
NM_006267.5(RANBP2):c.9035A>C (p.Asp3012Ala) rs1558942739
NM_006267.5(RANBP2):c.911_913GTA[1] (p.Ser305del) rs780185468
NM_006267.5(RANBP2):c.9215C>T (p.Ala3072Val)
NM_006267.5(RANBP2):c.9220G>A (p.Gly3074Ser)
NM_006267.5(RANBP2):c.9253T>C (p.Phe3085Leu)
NM_006267.5(RANBP2):c.9292G>T (p.Ala3098Ser)
NM_006267.5(RANBP2):c.929G>A (p.Arg310Gln)
NM_006267.5(RANBP2):c.9603G>T (p.Lys3201Asn) rs778121827
NM_006267.5(RANBP2):c.967G>C (p.Ala323Pro) rs1553485268

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