ClinVar Miner

List of variants reported as uncertain significance for encephalopathy, acute, infection-induced by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 442
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006267.5(RANBP2):c.7805C>T (p.Thr2602Met) rs200438979 0.00071
NM_006267.5(RANBP2):c.873G>A (p.Met291Ile) rs369585628 0.00024
NM_006267.5(RANBP2):c.7066G>A (p.Asp2356Asn) rs377422691 0.00021
NM_006267.5(RANBP2):c.1718C>G (p.Ala573Gly) rs141122553 0.00019
NM_006267.5(RANBP2):c.5428A>G (p.Thr1810Ala) rs143681482 0.00019
NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala) rs149578420 0.00018
NM_006267.5(RANBP2):c.4918T>A (p.Ser1640Thr) rs138946474 0.00018
NM_006267.5(RANBP2):c.560A>G (p.His187Arg) rs2693122 0.00018
NM_006267.5(RANBP2):c.9253T>C (p.Phe3085Leu) rs200328905 0.00018
NM_006267.5(RANBP2):c.2818G>T (p.Gly940Cys) rs201001226 0.00017
NM_006267.5(RANBP2):c.1231G>A (p.Val411Ile) rs139907041 0.00016
NM_006267.5(RANBP2):c.3653A>G (p.Asn1218Ser) rs146109021 0.00016
NM_006267.5(RANBP2):c.3419C>T (p.Ser1140Leu) rs756874724 0.00015
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) rs377029115 0.00014
NM_006267.5(RANBP2):c.4400C>T (p.Pro1467Leu) rs146136785 0.00014
NM_006267.5(RANBP2):c.2997A>G (p.Ile999Met) rs201152981 0.00013
NM_006267.5(RANBP2):c.3129C>G (p.Asp1043Glu) rs201783367 0.00013
NM_006267.5(RANBP2):c.4042G>A (p.Val1348Ile) rs139246606 0.00013
NM_006267.5(RANBP2):c.2241T>G (p.Asn747Lys) rs757991427 0.00012
NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg) rs776380363 0.00012
NM_006267.5(RANBP2):c.7756G>A (p.Glu2586Lys) rs544396243 0.00012
NM_006267.5(RANBP2):c.2852C>T (p.Thr951Met) rs549497956 0.00011
NM_006267.5(RANBP2):c.2904G>C (p.Gln968His) rs149515235 0.00011
NM_006267.5(RANBP2):c.3934G>A (p.Val1312Ile) rs372722891 0.00011
NM_006267.5(RANBP2):c.4442G>A (p.Gly1481Glu) rs115106428 0.00011
NM_006267.5(RANBP2):c.5189G>A (p.Cys1730Tyr) rs199711632 0.00011
NM_006267.5(RANBP2):c.73A>G (p.Lys25Glu) rs576251747 0.00011
NM_006267.5(RANBP2):c.7513C>A (p.Pro2505Thr) rs147542198 0.00011
NM_006267.5(RANBP2):c.8484T>A (p.Asp2828Glu) rs141258840 0.00011
NM_006267.5(RANBP2):c.2263G>A (p.Asp755Asn) rs2557914 0.00009
NM_006267.5(RANBP2):c.2267A>G (p.Tyr756Cys) rs780328981 0.00009
NM_006267.5(RANBP2):c.2894A>G (p.Asn965Ser) rs201447642 0.00009
NM_006267.5(RANBP2):c.3149A>T (p.Gln1050Leu) rs768450419 0.00009
NM_006267.5(RANBP2):c.4993A>G (p.Lys1665Glu) rs770727082 0.00009
NM_006267.5(RANBP2):c.6431G>A (p.Arg2144Gln) rs550357048 0.00009
NM_006267.5(RANBP2):c.3170C>T (p.Pro1057Leu) rs150151795 0.00008
NM_006267.5(RANBP2):c.6035A>G (p.His2012Arg) rs772929320 0.00008
NM_006267.5(RANBP2):c.1954A>G (p.Ile652Val) rs560038746 0.00007
NM_006267.5(RANBP2):c.2802C>G (p.Phe934Leu) rs138210821 0.00007
NM_006267.5(RANBP2):c.2992A>G (p.Thr998Ala) rs199597217 0.00007
NM_006267.5(RANBP2):c.1340T>C (p.Leu447Ser) rs539147212 0.00006
NM_006267.5(RANBP2):c.1679A>G (p.Asn560Ser) rs780734900 0.00006
NM_006267.5(RANBP2):c.2147A>G (p.Asp716Gly) rs771554716 0.00006
NM_006267.5(RANBP2):c.2164A>T (p.Ile722Leu) rs746264200 0.00006
NM_006267.5(RANBP2):c.344A>G (p.Lys115Arg) rs745353229 0.00006
NM_006267.5(RANBP2):c.3484C>T (p.His1162Tyr) rs143175615 0.00006
NM_006267.5(RANBP2):c.3582C>A (p.Phe1194Leu) rs201567166 0.00006
NM_006267.5(RANBP2):c.4216G>A (p.Asp1406Asn) rs777082127 0.00006
NM_006267.5(RANBP2):c.4317G>C (p.Gln1439His) rs375070272 0.00006
NM_006267.5(RANBP2):c.4830G>C (p.Trp1610Cys) rs201397627 0.00006
NM_006267.5(RANBP2):c.5298G>T (p.Glu1766Asp) rs140653325 0.00006
NM_006267.5(RANBP2):c.6323T>C (p.Leu2108Ser) rs756955122 0.00006
NM_006267.5(RANBP2):c.702C>G (p.Asp234Glu) rs148149640 0.00006
NM_006267.5(RANBP2):c.7207T>G (p.Leu2403Val) rs1198374414 0.00006
NM_006267.5(RANBP2):c.1762G>A (p.Gly588Ser) rs200629657 0.00005
NM_006267.5(RANBP2):c.1961T>A (p.Phe654Tyr) rs779026006 0.00005
NM_006267.5(RANBP2):c.4294G>A (p.Val1432Ile) rs1006499929 0.00005
NM_006267.5(RANBP2):c.520G>T (p.Val174Leu) rs1045111673 0.00005
NM_006267.5(RANBP2):c.6728T>C (p.Val2243Ala) rs149880163 0.00005
NM_006267.5(RANBP2):c.8188A>C (p.Lys2730Gln) rs747890333 0.00005
NM_006267.5(RANBP2):c.9402C>T (p.Gly3134=) rs182073857 0.00005
NM_006267.5(RANBP2):c.1350A>T (p.Leu450Phe) rs766607881 0.00004
NM_006267.5(RANBP2):c.20A>C (p.Asp7Ala) rs201886746 0.00004
NM_006267.5(RANBP2):c.2296G>C (p.Gly766Arg) rs773278648 0.00004
NM_006267.5(RANBP2):c.2834G>A (p.Arg945His) rs531378652 0.00004
NM_006267.5(RANBP2):c.3920C>T (p.Ala1307Val) rs780260112 0.00004
NM_006267.5(RANBP2):c.4220G>A (p.Arg1407Gln) rs146986427 0.00004
NM_006267.5(RANBP2):c.4514C>T (p.Pro1505Leu) rs773526624 0.00004
NM_006267.5(RANBP2):c.526C>T (p.Arg176Cys) rs543844917 0.00004
NM_006267.5(RANBP2):c.5294C>T (p.Ser1765Leu) rs367858316 0.00004
NM_006267.5(RANBP2):c.5311C>G (p.Pro1771Ala) rs371560504 0.00004
NM_006267.5(RANBP2):c.5579A>C (p.Lys1860Thr) rs776428358 0.00004
NM_006267.5(RANBP2):c.6008A>G (p.Tyr2003Cys) rs778749820 0.00004
NM_006267.5(RANBP2):c.612T>G (p.Asn204Lys) rs994626423 0.00004
NM_006267.5(RANBP2):c.6150T>G (p.Ser2050Arg) rs758206047 0.00004
NM_006267.5(RANBP2):c.6988C>A (p.Gln2330Lys) rs2693105 0.00004
NM_006267.5(RANBP2):c.7360T>G (p.Ser2454Ala) rs757368794 0.00004
NM_006267.5(RANBP2):c.7864A>C (p.Lys2622Gln) rs749548826 0.00004
NM_006267.5(RANBP2):c.7974C>G (p.Phe2658Leu) rs368484651 0.00004
NM_006267.5(RANBP2):c.8009A>G (p.Glu2670Gly) rs150674986 0.00004
NM_006267.5(RANBP2):c.8411G>T (p.Ser2804Ile) rs368049213 0.00004
NM_006267.5(RANBP2):c.8956G>A (p.Val2986Ile) rs753199133 0.00004
NM_006267.5(RANBP2):c.9158C>T (p.Ser3053Leu) rs200863740 0.00004
NM_006267.5(RANBP2):c.929G>A (p.Arg310Gln) rs765648480 0.00004
NM_006267.5(RANBP2):c.1117G>C (p.Val373Leu) rs779534152 0.00003
NM_006267.5(RANBP2):c.143A>T (p.Tyr48Phe) rs780017280 0.00003
NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val) rs763321558 0.00003
NM_006267.5(RANBP2):c.2066G>A (p.Arg689Lys) rs1220611752 0.00003
NM_006267.5(RANBP2):c.2410G>A (p.Ala804Thr) rs757404634 0.00003
NM_006267.5(RANBP2):c.3594C>T (p.Arg1198=) rs746067787 0.00003
NM_006267.5(RANBP2):c.5066A>G (p.Gln1689Arg) rs143930883 0.00003
NM_006267.5(RANBP2):c.5295G>A (p.Ser1765=) rs1296269274 0.00003
NM_006267.5(RANBP2):c.5731A>G (p.Lys1911Glu) rs762492477 0.00003
NM_006267.5(RANBP2):c.5786G>A (p.Gly1929Asp) rs778007786 0.00003
NM_006267.5(RANBP2):c.8177C>G (p.Ala2726Gly) rs148910172 0.00003
NM_006267.5(RANBP2):c.8360T>G (p.Val2787Gly) rs367864778 0.00003
NM_006267.5(RANBP2):c.8369T>A (p.Phe2790Tyr) rs142150663 0.00003
NM_006267.5(RANBP2):c.871A>G (p.Met291Val) rs542732311 0.00003
NM_006267.5(RANBP2):c.9215C>T (p.Ala3072Val) rs368398572 0.00003
NM_006267.5(RANBP2):c.1133A>G (p.Asn378Ser) rs370375563 0.00002
NM_006267.5(RANBP2):c.1216A>G (p.Ile406Val) rs1251336337 0.00002
NM_006267.5(RANBP2):c.1972G>A (p.Asp658Asn) rs772008799 0.00002
NM_006267.5(RANBP2):c.1993G>A (p.Glu665Lys) rs759073709 0.00002
NM_006267.5(RANBP2):c.2469A>G (p.Lys823=) rs763497305 0.00002
NM_006267.5(RANBP2):c.2507C>A (p.Ala836Glu) rs762106093 0.00002
NM_006267.5(RANBP2):c.2833C>T (p.Arg945Cys) rs1230163478 0.00002
NM_006267.5(RANBP2):c.3384T>G (p.Ser1128Arg) rs771199260 0.00002
NM_006267.5(RANBP2):c.3944C>T (p.Ala1315Val) rs778959329 0.00002
NM_006267.5(RANBP2):c.4183T>C (p.Phe1395Leu) rs1157711861 0.00002
NM_006267.5(RANBP2):c.4549A>G (p.Thr1517Ala) rs751118849 0.00002
NM_006267.5(RANBP2):c.4609G>A (p.Glu1537Lys) rs1375081547 0.00002
NM_006267.5(RANBP2):c.5224A>G (p.Thr1742Ala) rs776783992 0.00002
NM_006267.5(RANBP2):c.5356G>T (p.Asp1786Tyr) rs753417427 0.00002
NM_006267.5(RANBP2):c.5996A>T (p.Asp1999Val) rs749247854 0.00002
NM_006267.5(RANBP2):c.7710C>A (p.Ser2570Arg) rs748626354 0.00002
NM_006267.5(RANBP2):c.771A>T (p.Glu257Asp) rs761240246 0.00002
NM_006267.5(RANBP2):c.8060A>T (p.Lys2687Ile) rs773902761 0.00002
NM_006267.5(RANBP2):c.8498G>A (p.Gly2833Glu) rs560513063 0.00002
NM_006267.5(RANBP2):c.9220G>A (p.Gly3074Ser) rs753643539 0.00002
NM_006267.5(RANBP2):c.974A>G (p.Gln325Arg) rs547648155 0.00002
NM_006267.5(RANBP2):c.1043G>T (p.Cys348Phe) rs1252035467 0.00001
NM_006267.5(RANBP2):c.1088G>A (p.Arg363His) rs550471130 0.00001
NM_006267.5(RANBP2):c.1190A>G (p.Asp397Gly) rs376733981 0.00001
NM_006267.5(RANBP2):c.1213G>A (p.Asp405Asn) rs750123699 0.00001
NM_006267.5(RANBP2):c.1235G>A (p.Arg412Gln) rs544178123 0.00001
NM_006267.5(RANBP2):c.1252G>T (p.Asp418Tyr) rs769995347 0.00001
NM_006267.5(RANBP2):c.1270G>A (p.Val424Ile) rs761793907 0.00001
NM_006267.5(RANBP2):c.1283G>A (p.Arg428Gln) rs1359594543 0.00001
NM_006267.5(RANBP2):c.1643T>C (p.Val548Ala) rs3872469 0.00001
NM_006267.5(RANBP2):c.1787G>A (p.Arg596Gln) rs753106584 0.00001
NM_006267.5(RANBP2):c.1796T>G (p.Ile599Arg) rs771128114 0.00001
NM_006267.5(RANBP2):c.1862G>A (p.Ser621Asn) rs1298841292 0.00001
NM_006267.5(RANBP2):c.1865T>A (p.Ile622Asn) rs768578328 0.00001
NM_006267.5(RANBP2):c.1876A>G (p.Ile626Val) rs537490309 0.00001
NM_006267.5(RANBP2):c.1918-3T>C rs765978051 0.00001
NM_006267.5(RANBP2):c.1948G>A (p.Ala650Thr) rs757637271 0.00001
NM_006267.5(RANBP2):c.2006C>A (p.Thr669Asn) rs1382292959 0.00001
NM_006267.5(RANBP2):c.2023A>G (p.Lys675Glu) rs754073152 0.00001
NM_006267.5(RANBP2):c.2038T>C (p.Tyr680His) rs1201175872 0.00001
NM_006267.5(RANBP2):c.2055+6T>C rs1676074087 0.00001
NM_006267.5(RANBP2):c.2198A>G (p.Lys733Arg) rs1251882959 0.00001
NM_006267.5(RANBP2):c.2202+3A>G rs1451783103 0.00001
NM_006267.5(RANBP2):c.2344C>G (p.Pro782Ala) rs1220477512 0.00001
NM_006267.5(RANBP2):c.2507C>T (p.Ala836Val) rs762106093 0.00001
NM_006267.5(RANBP2):c.2603-3T>C rs2912832 0.00001
NM_006267.5(RANBP2):c.274A>G (p.Thr92Ala) rs766491918 0.00001
NM_006267.5(RANBP2):c.2798T>C (p.Met933Thr) rs750836271 0.00001
NM_006267.5(RANBP2):c.297G>T (p.Lys99Asn) rs778799923 0.00001
NM_006267.5(RANBP2):c.2995A>G (p.Ile999Val) rs776885563 0.00001
NM_006267.5(RANBP2):c.3010A>G (p.Thr1004Ala) rs1264589423 0.00001
NM_006267.5(RANBP2):c.3011C>T (p.Thr1004Ile) rs1416817626 0.00001
NM_006267.5(RANBP2):c.3032C>T (p.Pro1011Leu) rs777962677 0.00001
NM_006267.5(RANBP2):c.3220A>G (p.Lys1074Glu) rs372948464 0.00001
NM_006267.5(RANBP2):c.3242A>G (p.Tyr1081Cys) rs753740982 0.00001
NM_006267.5(RANBP2):c.3273A>T (p.Gln1091His) rs770365585 0.00001
NM_006267.5(RANBP2):c.3287G>A (p.Arg1096Gln) rs774748190 0.00001
NM_006267.5(RANBP2):c.3380G>A (p.Arg1127Gln) rs531942994 0.00001
NM_006267.5(RANBP2):c.3416A>C (p.Lys1139Thr) rs751281688 0.00001
NM_006267.5(RANBP2):c.374T>G (p.Phe125Cys) rs753998662 0.00001
NM_006267.5(RANBP2):c.3754A>T (p.Met1252Leu) rs1288871552 0.00001
NM_006267.5(RANBP2):c.3860C>T (p.Thr1287Ile) rs764830622 0.00001
NM_006267.5(RANBP2):c.3967G>T (p.Val1323Leu) rs543164039 0.00001
NM_006267.5(RANBP2):c.4114T>G (p.Cys1372Gly) rs748526932 0.00001
NM_006267.5(RANBP2):c.4139C>G (p.Pro1380Arg) rs764217841 0.00001
NM_006267.5(RANBP2):c.4162C>T (p.Pro1388Ser) rs1676988149 0.00001
NM_006267.5(RANBP2):c.4177A>G (p.Thr1393Ala) rs755907947 0.00001
NM_006267.5(RANBP2):c.4184T>C (p.Phe1395Ser) rs1406078122 0.00001
NM_006267.5(RANBP2):c.4253A>G (p.His1418Arg) rs1478874755 0.00001
NM_006267.5(RANBP2):c.4473A>G (p.Gln1491=) rs370666741 0.00001
NM_006267.5(RANBP2):c.4508A>T (p.Gln1503Leu) rs969517784 0.00001
NM_006267.5(RANBP2):c.4823G>A (p.Gly1608Glu) rs1474762664 0.00001
NM_006267.5(RANBP2):c.4856A>G (p.Asn1619Ser) rs1482959608 0.00001
NM_006267.5(RANBP2):c.4972T>G (p.Phe1658Val) rs755016899 0.00001
NM_006267.5(RANBP2):c.4981A>C (p.Met1661Leu) rs551971749 0.00001
NM_006267.5(RANBP2):c.507C>G (p.Ile169Met) rs1443220796 0.00001
NM_006267.5(RANBP2):c.5099C>G (p.Ala1700Gly) rs112643545 0.00001
NM_006267.5(RANBP2):c.5123A>G (p.Glu1708Gly) rs150813785 0.00001
NM_006267.5(RANBP2):c.5180A>G (p.Gln1727Arg) rs748698402 0.00001
NM_006267.5(RANBP2):c.5251A>G (p.Ser1751Gly) rs1249787158 0.00001
NM_006267.5(RANBP2):c.5416G>A (p.Ala1806Thr) rs1254763456 0.00001
NM_006267.5(RANBP2):c.542T>G (p.Leu181Trp) rs1231915444 0.00001
NM_006267.5(RANBP2):c.5452C>T (p.Pro1818Ser) rs1291246599 0.00001
NM_006267.5(RANBP2):c.593G>A (p.Arg198His) rs757718519 0.00001
NM_006267.5(RANBP2):c.5983G>A (p.Asp1995Asn) rs1206917390 0.00001
NM_006267.5(RANBP2):c.6025G>A (p.Asp2009Asn) rs1159887089 0.00001
NM_006267.5(RANBP2):c.6116G>A (p.Arg2039Gln) rs545733728 0.00001
NM_006267.5(RANBP2):c.6272C>T (p.Thr2091Ile) rs1558925587 0.00001
NM_006267.5(RANBP2):c.6275C>T (p.Thr2092Met) rs760931362 0.00001
NM_006267.5(RANBP2):c.6311C>T (p.Ala2104Val) rs1677155123 0.00001
NM_006267.5(RANBP2):c.6698C>T (p.Ala2233Val) rs753471961 0.00001
NM_006267.5(RANBP2):c.6830C>T (p.Pro2277Leu) rs2433707 0.00001
NM_006267.5(RANBP2):c.6844G>T (p.Ala2282Ser) rs762456750 0.00001
NM_006267.5(RANBP2):c.745A>G (p.Thr249Ala) rs372262830 0.00001
NM_006267.5(RANBP2):c.7462G>A (p.Val2488Ile) rs760616302 0.00001
NM_006267.5(RANBP2):c.7550G>T (p.Gly2517Val) rs2949963 0.00001
NM_006267.5(RANBP2):c.7690G>T (p.Ala2564Ser) rs749950831 0.00001
NM_006267.5(RANBP2):c.7697G>A (p.Ser2566Asn) rs1196915435 0.00001
NM_006267.5(RANBP2):c.7933A>C (p.Lys2645Gln) rs1006200808 0.00001
NM_006267.5(RANBP2):c.7943C>T (p.Ala2648Val) rs1306346763 0.00001
NM_006267.5(RANBP2):c.80T>C (p.Met27Thr) rs1181847894 0.00001
NM_006267.5(RANBP2):c.8190A>C (p.Lys2730Asn) rs1160561861 0.00001
NM_006267.5(RANBP2):c.8254G>C (p.Asp2752His) rs1677616367 0.00001
NM_006267.5(RANBP2):c.83A>G (p.Lys28Arg) rs1250035178 0.00001
NM_006267.5(RANBP2):c.8491A>T (p.Ser2831Cys) rs368434436 0.00001
NM_006267.5(RANBP2):c.8729T>C (p.Ile2910Thr) rs575473077 0.00001
NM_006267.5(RANBP2):c.9033T>C (p.Ala3011=) rs1463897413 0.00001
NM_006267.5(RANBP2):c.917A>G (p.Asn306Ser) rs565225481 0.00001
NM_006267.5(RANBP2):c.931G>A (p.Ala311Thr) rs763374992 0.00001
NM_006267.5(RANBP2):c.9603G>T (p.Lys3201Asn) rs778121827 0.00001
NC_000002.11:g.(?_108604612)_(109336154_?)dup
NC_000002.11:g.(?_108604612)_(109378671_?)dup
NC_000002.11:g.(?_108604612)_(109579739_?)del
NC_000002.11:g.(?_108604612)_(109579739_?)dup
NC_000002.11:g.(?_109336063)_(109547470_?)del
NC_000002.11:g.(?_109336063)_(109579739_?)dup
NC_000002.11:g.(?_109347210)_(109392412_?)dup
NC_000002.11:g.(?_109356925)_(109357157_?)del
NC_000002.11:g.(?_109363147)_(109368470_?)del
NC_000002.11:g.(?_109363147)_(109370447_?)dup
NC_000002.11:g.(?_109363157)_(109363264_?)dup
NC_000002.11:g.(?_109367700)_(109368470_?)del
NC_000002.11:g.(?_109368307)_(109370039_?)del
NC_000002.11:g.(?_109368307)_(109370039_?)dup
NC_000002.11:g.(?_109368307)_(109579739_?)del
NC_000002.11:g.(?_109368307)_(109579739_?)dup
NC_000002.12:g.(?_108719587)_(108740701_?)del
NC_000002.12:g.(?_108719587)_(108963283_?)del
NC_000002.12:g.(?_108729112)_(108963283_?)dup
NM_006267.5(RANBP2):c.1063+3A>G rs1467931249
NM_006267.5(RANBP2):c.1070T>C (p.Met357Thr) rs752527357
NM_006267.5(RANBP2):c.128A>T (p.Asp43Val) rs751086162
NM_006267.5(RANBP2):c.1294G>C (p.Gly432Arg) rs1675861391
NM_006267.5(RANBP2):c.1360C>T (p.Arg454Ter) rs755089446
NM_006267.5(RANBP2):c.1398T>G (p.His466Gln) rs746894026
NM_006267.5(RANBP2):c.1426C>T (p.Pro476Ser) rs2149220937
NM_006267.5(RANBP2):c.1478A>C (p.Tyr493Ser) rs1553489117
NM_006267.5(RANBP2):c.1492C>G (p.Gln498Glu) rs768171637
NM_006267.5(RANBP2):c.151A>G (p.Thr51Ala) rs1389706312
NM_006267.5(RANBP2):c.1632-10_1632-1delinsAATTTTTAT rs1553489293
NM_006267.5(RANBP2):c.1633C>T (p.Pro545Ser)
NM_006267.5(RANBP2):c.1642G>A (p.Val548Ile) rs1057954
NM_006267.5(RANBP2):c.1642_1643delinsTC (p.Val548Ser) rs2149222955
NM_006267.5(RANBP2):c.1661T>C (p.Leu554Pro)
NM_006267.5(RANBP2):c.1677A>G (p.Ile559Met)
NM_006267.5(RANBP2):c.1685dup (p.Arg563fs) rs1558903136
NM_006267.5(RANBP2):c.1690G>A (p.Ala564Thr)
NM_006267.5(RANBP2):c.1699A>G (p.Lys567Glu)
NM_006267.5(RANBP2):c.1700A>G (p.Lys567Arg)
NM_006267.5(RANBP2):c.1702C>T (p.His568Tyr)
NM_006267.5(RANBP2):c.1714C>T (p.Pro572Ser) rs772325084
NM_006267.5(RANBP2):c.1717G>A (p.Ala573Thr)
NM_006267.5(RANBP2):c.1717G>C (p.Ala573Pro)
NM_006267.5(RANBP2):c.1729C>A (p.His577Asn) rs1197834920
NM_006267.5(RANBP2):c.173G>T (p.Arg58Met) rs771708771
NM_006267.5(RANBP2):c.1755G>A (p.Thr585=)
NM_006267.5(RANBP2):c.1755G>T (p.Thr585=) rs1558903324
NM_006267.5(RANBP2):c.1756-3T>A rs2149229897
NM_006267.5(RANBP2):c.1756G>T (p.Gly586Cys) rs367759539
NM_006267.5(RANBP2):c.1757G>A (p.Gly586Asp)
NM_006267.5(RANBP2):c.1761C>A (p.Ser587Arg)
NM_006267.5(RANBP2):c.1765C>G (p.Leu589Val) rs560012069
NM_006267.5(RANBP2):c.1769A>G (p.Asn590Ser)
NM_006267.5(RANBP2):c.1798G>A (p.Gly600Arg) rs2149230160
NM_006267.5(RANBP2):c.1798G>C (p.Gly600Arg)
NM_006267.5(RANBP2):c.1816T>C (p.Trp606Arg) rs1159089490
NM_006267.5(RANBP2):c.1818G>C (p.Trp606Cys) rs2149230211
NM_006267.5(RANBP2):c.182A>G (p.Lys61Arg) rs375559497
NM_006267.5(RANBP2):c.1832C>T (p.Pro611Leu)
NM_006267.5(RANBP2):c.1843A>T (p.Ile615Leu)
NM_006267.5(RANBP2):c.1847T>C (p.Ile616Thr) rs2149230281
NM_006267.5(RANBP2):c.1851_1853del (p.Lys619del)
NM_006267.5(RANBP2):c.1854GAA[1] (p.Lys619del) rs1359840506
NM_006267.5(RANBP2):c.1856A>G (p.Lys619Arg) rs1676031394
NM_006267.5(RANBP2):c.1857G>C (p.Lys619Asn) rs2149230328
NM_006267.5(RANBP2):c.1873C>T (p.Pro625Ser)
NM_006267.5(RANBP2):c.1874C>G (p.Pro625Arg) rs2149230410
NM_006267.5(RANBP2):c.1877T>A (p.Ile626Asn)
NM_006267.5(RANBP2):c.1877T>C (p.Ile626Thr)
NM_006267.5(RANBP2):c.1882C>A (p.Pro628Thr)
NM_006267.5(RANBP2):c.1882C>G (p.Pro628Ala) rs2149230486
NM_006267.5(RANBP2):c.1882C>T (p.Pro628Ser)
NM_006267.5(RANBP2):c.1895A>C (p.His632Pro) rs749941285
NM_006267.5(RANBP2):c.1902T>A (p.His634Gln) rs2149230602
NM_006267.5(RANBP2):c.1904G>C (p.Ser635Thr)
NM_006267.5(RANBP2):c.190A>G (p.Arg64Gly) rs1695110805
NM_006267.5(RANBP2):c.1917+6A>G
NM_006267.5(RANBP2):c.1918-1G>A rs1193113074
NM_006267.5(RANBP2):c.1918-3del rs1553489983
NM_006267.5(RANBP2):c.1918G>A (p.Ala640Thr)
NM_006267.5(RANBP2):c.1921T>A (p.Ser641Thr) rs2149232307
NM_006267.5(RANBP2):c.1937A>G (p.Tyr646Cys)
NM_006267.5(RANBP2):c.1952A>G (p.His651Arg)
NM_006267.5(RANBP2):c.1953C>G (p.His651Gln) rs756288262
NM_006267.5(RANBP2):c.1961_1962del (p.Phe654fs) rs2149232562
NM_006267.5(RANBP2):c.1963G>A (p.Ala655Thr) rs2149232582
NM_006267.5(RANBP2):c.1964C>G (p.Ala655Gly)
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006267.5(RANBP2):c.1967T>C (p.Ile656Thr)
NM_006267.5(RANBP2):c.1968A>G (p.Ile656Met)
NM_006267.5(RANBP2):c.1975G>T (p.Ala659Ser) rs1676066238
NM_006267.5(RANBP2):c.1985G>A (p.Gly662Glu)
NM_006267.5(RANBP2):c.1991T>C (p.Ile664Thr)
NM_006267.5(RANBP2):c.2002G>A (p.Val668Met) rs2433790
NM_006267.5(RANBP2):c.2008G>A (p.Ala670Thr)
NM_006267.5(RANBP2):c.2015A>C (p.Glu672Ala) rs767990485
NM_006267.5(RANBP2):c.2015A>G (p.Glu672Gly) rs767990485
NM_006267.5(RANBP2):c.2018C>G (p.Ser673Cys)
NM_006267.5(RANBP2):c.2020A>T (p.Ile674Leu)
NM_006267.5(RANBP2):c.2045A>C (p.Asn682Thr) rs1261658491
NM_006267.5(RANBP2):c.2054T>G (p.Leu685Arg) rs1676073772
NM_006267.5(RANBP2):c.2056-9T>G rs1164901760
NM_006267.5(RANBP2):c.2129A>C (p.Tyr710Ser) rs1553490292
NM_006267.5(RANBP2):c.2137A>C (p.Lys713Gln) rs1676102291
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.2314G>C (p.Asp772His) rs776333740
NM_006267.5(RANBP2):c.2369G>A (p.Ser790Asn) rs1558908320
NM_006267.5(RANBP2):c.2371A>G (p.Lys791Glu) rs1161237836
NM_006267.5(RANBP2):c.2383-3T>C rs1553490926
NM_006267.5(RANBP2):c.2392A>G (p.Lys798Glu) rs753165103
NM_006267.5(RANBP2):c.2699G>A (p.Gly900Asp) rs1242824247
NM_006267.5(RANBP2):c.2734C>G (p.Gln912Glu) rs2149270626
NM_006267.5(RANBP2):c.2797A>T (p.Met933Leu) rs112109734
NM_006267.5(RANBP2):c.2873G>T (p.Gly958Val) rs1676882455
NM_006267.5(RANBP2):c.2911A>C (p.Thr971Pro) rs1676884999
NM_006267.5(RANBP2):c.2T>A (p.Met1Lys) rs1694042679
NM_006267.5(RANBP2):c.3028A>C (p.Met1010Leu) rs758609757
NM_006267.5(RANBP2):c.3035G>T (p.Gly1012Val) rs149826319
NM_006267.5(RANBP2):c.3161A>G (p.Gln1054Arg) rs1553494404
NM_006267.5(RANBP2):c.3228_3229delinsAA (p.Gln1077Lys) rs1553494518
NM_006267.5(RANBP2):c.3254A>G (p.Lys1085Arg) rs1447229212
NM_006267.5(RANBP2):c.3263C>T (p.Pro1088Leu) rs1676919475
NM_006267.5(RANBP2):c.3382A>C (p.Ser1128Arg) rs2149272683
NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu) rs142454773
NM_006267.5(RANBP2):c.3404A>G (p.His1135Arg) rs1412938756
NM_006267.5(RANBP2):c.3469G>C (p.Asp1157His) rs1383623493
NM_006267.5(RANBP2):c.3485A>T (p.His1162Leu) rs1306184111
NM_006267.5(RANBP2):c.3592C>T (p.Arg1198Cys) rs771155432
NM_006267.5(RANBP2):c.3689T>G (p.Ile1230Ser) rs1676950167
NM_006267.5(RANBP2):c.3908G>C (p.Ser1303Thr) rs561666429
NM_006267.5(RANBP2):c.3953A>G (p.Gln1318Arg) rs2149274196
NM_006267.5(RANBP2):c.3995A>G (p.Lys1332Arg) rs2149274350
NM_006267.5(RANBP2):c.4042G>C (p.Val1348Leu) rs139246606
NM_006267.5(RANBP2):c.406-2A>G rs1695505484
NM_006267.5(RANBP2):c.4084T>C (p.Ser1362Pro) rs1676980878
NM_006267.5(RANBP2):c.4154T>C (p.Leu1385Pro) rs2149274902
NM_006267.5(RANBP2):c.4206G>C (p.Glu1402Asp) rs778322620
NM_006267.5(RANBP2):c.432A>G (p.Glu144=) rs915340430
NM_006267.5(RANBP2):c.4372A>G (p.Lys1458Glu) rs2149275579
NM_006267.5(RANBP2):c.4403T>C (p.Ile1468Thr) rs1677010120
NM_006267.5(RANBP2):c.4435A>G (p.Lys1479Glu) rs377513911
NM_006267.5(RANBP2):c.4550C>T (p.Thr1517Ile) rs1484293010
NM_006267.5(RANBP2):c.467C>G (p.Ser156Ter) rs1573715350
NM_006267.5(RANBP2):c.4732G>A (p.Val1578Ile) rs775467593
NM_006267.5(RANBP2):c.4789A>G (p.Ser1597Gly) rs1677043381
NM_006267.5(RANBP2):c.4927T>G (p.Ser1643Ala) rs2149277367
NM_006267.5(RANBP2):c.4949C>T (p.Thr1650Ile) rs1677054108
NM_006267.5(RANBP2):c.4974dup (p.Glu1659Ter) rs2149277495
NM_006267.5(RANBP2):c.4976A>G (p.Glu1659Gly) rs372348140
NM_006267.5(RANBP2):c.4994AGG[1] (p.Glu1666del) rs1553496202
NM_006267.5(RANBP2):c.5074G>A (p.Gly1692Ser) rs1409760237
NM_006267.5(RANBP2):c.5092A>G (p.Thr1698Ala) rs1677063662
NM_006267.5(RANBP2):c.5096C>T (p.Ser1699Phe) rs1553496280
NM_006267.5(RANBP2):c.5210A>G (p.Asn1737Ser) rs941661906
NM_006267.5(RANBP2):c.5245_5246delinsAA (p.Cys1749Asn) rs2149278309
NM_006267.5(RANBP2):c.52T>C (p.Ser18Pro) rs1694049253
NM_006267.5(RANBP2):c.5323T>C (p.Phe1775Leu) rs1573814995
NM_006267.5(RANBP2):c.5404G>C (p.Val1802Leu) rs1677085537
NM_006267.5(RANBP2):c.5441T>A (p.Ile1814Asn) rs1677088173
NM_006267.5(RANBP2):c.5584G>T (p.Gly1862Trp) rs1677100900
NM_006267.5(RANBP2):c.5653A>G (p.Thr1885Ala) rs1553496835
NM_006267.5(RANBP2):c.5675C>T (p.Pro1892Leu) rs1677107728
NM_006267.5(RANBP2):c.5725_5727del (p.Glu1909del) rs2149279748
NM_006267.5(RANBP2):c.5786G>T (p.Gly1929Val) rs778007786
NM_006267.5(RANBP2):c.5798G>A (p.Gly1933Asp) rs1677118560
NM_006267.5(RANBP2):c.5800C>T (p.Arg1934Cys) rs199920895
NM_006267.5(RANBP2):c.5892dup (p.Asp1965fs) rs772295809
NM_006267.5(RANBP2):c.5929A>G (p.Lys1977Glu) rs1558924921
NM_006267.5(RANBP2):c.5995G>T (p.Asp1999Tyr) rs779917838
NM_006267.5(RANBP2):c.6091G>A (p.Asp2031Asn) rs2149281022
NM_006267.5(RANBP2):c.6439T>G (p.Leu2147Val) rs1279946059
NM_006267.5(RANBP2):c.6499A>G (p.Ile2167Val) rs1677164442
NM_006267.5(RANBP2):c.6576_6577insCCT (p.Thr2192_Glu2193insPro) rs768869504
NM_006267.5(RANBP2):c.6592G>T (p.Gly2198Cys) rs776975475
NM_006267.5(RANBP2):c.6605G>A (p.Gly2202Asp) rs763085166
NM_006267.5(RANBP2):c.6610G>T (p.Ala2204Ser) rs1257076841
NM_006267.5(RANBP2):c.6613G>A (p.Gly2205Ser) rs755789696
NM_006267.5(RANBP2):c.6647A>T (p.Glu2216Val) rs1348403145
NM_006267.5(RANBP2):c.673A>G (p.Lys225Glu) rs1695563052
NM_006267.5(RANBP2):c.6782G>A (p.Gly2261Asp) rs1677188214
NM_006267.5(RANBP2):c.678T>G (p.Ser226Arg) rs2149130940
NM_006267.5(RANBP2):c.6856C>G (p.Gln2286Glu) rs1553497729
NM_006267.5(RANBP2):c.6857A>G (p.Gln2286Arg) rs1573820153
NM_006267.5(RANBP2):c.6881A>T (p.Asp2294Val) rs779134801
NM_006267.5(RANBP2):c.6889_6906del (p.Ser2297_Glu2302del) rs2149283036
NM_006267.5(RANBP2):c.6893A>T (p.Asp2298Val) rs373099348
NM_006267.5(RANBP2):c.7012A>G (p.Lys2338Glu) rs2693104
NM_006267.5(RANBP2):c.7125C>A (p.Asp2375Glu) rs1332179032
NM_006267.5(RANBP2):c.715T>A (p.Tyr239Asn) rs1405042231
NM_006267.5(RANBP2):c.7191G>T (p.Gly2397=) rs1677214050
NM_006267.5(RANBP2):c.7283_7284insGGCAGACTCGTTTTCGTTTTAAACTACAGGATGT (p.Phe2432_Lys2433insSerPheTerAlaAspSerPhe) rs2149283861
NM_006267.5(RANBP2):c.7309G>A (p.Asp2437Asn) rs1677220231
NM_006267.5(RANBP2):c.7310A>G (p.Asp2437Gly) rs1414328580
NM_006267.5(RANBP2):c.7364G>T (p.Arg2455Leu) rs561921269
NM_006267.5(RANBP2):c.7372A>C (p.Thr2458Pro) rs1677226173
NM_006267.5(RANBP2):c.739C>T (p.Leu247Phe) rs1179200305
NM_006267.5(RANBP2):c.746C>T (p.Thr249Ile) rs769368705
NM_006267.5(RANBP2):c.7471G>C (p.Ala2491Pro) rs758152724
NM_006267.5(RANBP2):c.7483_7506dup (p.Val2495_Glu2502dup) rs753506997
NM_006267.5(RANBP2):c.7625G>T (p.Gly2542Val) rs1677244353
NM_006267.5(RANBP2):c.7747T>C (p.Ser2583Pro) rs1677251736
NM_006267.5(RANBP2):c.7748C>T (p.Ser2583Phe) rs771059374
NM_006267.5(RANBP2):c.7760A>G (p.Gln2587Arg) rs1553498323
NM_006267.5(RANBP2):c.7790T>C (p.Phe2597Ser) rs2949962
NM_006267.5(RANBP2):c.7831T>A (p.Phe2611Ile) rs1677259383
NM_006267.5(RANBP2):c.7844A>G (p.Glu2615Gly) rs1573823052
NM_006267.5(RANBP2):c.7873G>T (p.Asp2625Tyr) rs1677509212
NM_006267.5(RANBP2):c.7892A>C (p.Asp2631Ala) rs1677511241
NM_006267.5(RANBP2):c.7892A>T (p.Asp2631Val) rs1677511241
NM_006267.5(RANBP2):c.7911A>T (p.Glu2637Asp) rs368160432
NM_006267.5(RANBP2):c.7918C>A (p.Pro2640Thr) rs762433464
NM_006267.5(RANBP2):c.8098G>A (p.Glu2700Lys) rs1479884674
NM_006267.5(RANBP2):c.8107A>G (p.Thr2703Ala) rs2149300293
NM_006267.5(RANBP2):c.8122A>C (p.Lys2708Gln) rs1385654757
NM_006267.5(RANBP2):c.8183C>T (p.Thr2728Met) rs778647896
NM_006267.5(RANBP2):c.8269C>T (p.Leu2757Phe) rs1677618457
NM_006267.5(RANBP2):c.8305G>A (p.Glu2769Lys) rs1229597541
NM_006267.5(RANBP2):c.8423T>C (p.Val2808Ala) rs151045545
NM_006267.5(RANBP2):c.8438T>C (p.Met2813Thr) rs1677851038
NM_006267.5(RANBP2):c.8455T>G (p.Leu2819Val) rs2149311826
NM_006267.5(RANBP2):c.8599+3A>G rs1360345262
NM_006267.5(RANBP2):c.8621A>G (p.Asn2874Ser) rs1553502323
NM_006267.5(RANBP2):c.9035A>C (p.Asp3012Ala) rs1558942739
NM_006267.5(RANBP2):c.9038G>A (p.Gly3013Glu) rs1678327966
NM_006267.5(RANBP2):c.911GTA[1] (p.Ser305del) rs780185468
NM_006267.5(RANBP2):c.9204T>A (p.Phe3068Leu) rs2149332958
NM_006267.5(RANBP2):c.9236G>A (p.Arg3079Gln) rs532940205
NM_006267.5(RANBP2):c.9292G>T (p.Ala3098Ser) rs1573859262
NM_006267.5(RANBP2):c.9503A>G (p.Asn3168Ser) rs757384021
NM_006267.5(RANBP2):c.9604A>G (p.Ile3202Val) rs1678424306
NM_006267.5(RANBP2):c.967G>C (p.Ala323Pro) rs1553485268
NM_006267.5(RANBP2):c.970T>C (p.Phe324Leu) rs1696012584

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.