NFAT5 — 892 ClinVar variants

Conflicting classifications of pathogenicity 6

• p.Asn1035Ser Single submitter immunodeficiency disease ⚠
• p.Pro1164Ser Single submitter immunodeficiency disease ⚠
• p.Ser144Gly Single submitter immunodeficiency disease ⚠
• p.Ser657Ala Single submitter immunodeficiency disease ⚠
• p.Thr1025Ser Single submitter immunodeficiency disease ⚠
• p.Thr1156Ala Single submitter immunodeficiency disease ⚠

Benign 25

• c.1370-17C>A Multiple submitters immunodeficiency disease
• c.1505-16_1505-15insGT Multiple submitters immunodeficiency disease
• c.1557+20del Multiple submitters immunodeficiency disease
• c.*172A>G Multiple submitters
• p.Glu842= Multiple submitters immunodeficiency disease
• p.Ile1117= Multiple submitters immunodeficiency disease
• c.1197-10del Single submitter immunodeficiency disease
• c.1197-10dup Single submitter immunodeficiency disease
• c.1505-16_1505-15insG Single submitter
• c.1505-16_1505-15insGA Single submitter
• c.1505-16_1505-15insGG Single submitter
• c.1557+20dup Single submitter immunodeficiency disease
• c.1690+73A>T Single submitter
• c.1691-6del Single submitter immunodeficiency disease
• c.1691-6dup Single submitter immunodeficiency disease
• c.1775-20T>G Single submitter immunodeficiency disease
• c.4415-10G>A Single submitter immunodeficiency disease
• c.4415-19G>T Single submitter immunodeficiency disease
• p.Ala566Gly Single submitter immunodeficiency disease
• p.Glu1069= Single submitter immunodeficiency disease
• p.Ile1529= Single submitter immunodeficiency disease
• p.Leu455= Single submitter immunodeficiency disease
• p.Leu894= Single submitter immunodeficiency disease
• p.Pro613= Single submitter immunodeficiency disease
• p.Val130Met Single submitter immunodeficiency disease

Benign/Likely benign 9

• c.1005+14_1005+17del Multiple submitters immunodeficiency disease
• c.1197-16T>A Multiple submitters immunodeficiency disease
• c.1369+16C>T Multiple submitters immunodeficiency disease
• c.1775-20T>C Multiple submitters immunodeficiency disease
• c.812+19T>A Multiple submitters immunodeficiency disease
• p.Gln1251Arg Multiple submitters immunodeficiency disease
• p.Gly181= Multiple submitters immunodeficiency disease
• p.Lys231= Multiple submitters immunodeficiency disease
• p.Phe707= Multiple submitters immunodeficiency disease

Likely benign 304

Showing the top 300 by review status; the full set is in the sitemap.

• c.1005+4T>C Multiple submitters immunodeficiency disease
• c.1775-18G>T Multiple submitters immunodeficiency disease
• c.813-11del Multiple submitters immunodeficiency disease
• p.Ala1097= Multiple submitters immunodeficiency disease
• p.Ala129= Multiple submitters immunodeficiency disease
• p.Asp1098= Multiple submitters immunodeficiency disease
• p.Cys402= Multiple submitters immunodeficiency disease
• p.Gln1203= Multiple submitters immunodeficiency disease
• p.Gln1284del Multiple submitters immunodeficiency disease
• p.Glu964= Multiple submitters immunodeficiency disease
• p.Gly663= Multiple submitters immunodeficiency disease
• p.Gly942= Multiple submitters immunodeficiency disease
• p.Lys249= Multiple submitters immunodeficiency disease
• p.Phe1042= Multiple submitters immunodeficiency disease
• p.Pro1037= Multiple submitters immunodeficiency disease
• p.Pro358= Multiple submitters immunodeficiency disease
• p.Pro781= Multiple submitters immunodeficiency disease
• p.Ser1432= Multiple submitters immunodeficiency disease
• c.1005+18C>T Single submitter immunodeficiency disease
• c.1005+7A>G Single submitter immunodeficiency disease
• c.1005+8_1005+16dup Single submitter immunodeficiency disease
• c.1006-12_1006-4dup Single submitter immunodeficiency disease
• c.1006-17A>G Single submitter immunodeficiency disease
• c.1196+7A>G Single submitter immunodeficiency disease
• c.1197-13_1197-10dup Single submitter immunodeficiency disease
• c.127+13C>T Single submitter
• c.128-17C>T Single submitter
• c.128-19C>T Single submitter
• c.1369+17G>A Single submitter immunodeficiency disease
• c.1369+9G>A Single submitter immunodeficiency disease
• c.1370-13T>C Single submitter immunodeficiency disease
• c.1370-14A>G Single submitter immunodeficiency disease
• c.1370-16T>G Single submitter immunodeficiency disease
• c.1370-17C>T Single submitter immunodeficiency disease
• c.1370-5C>T Single submitter immunodeficiency disease
• c.1370-7T>C Single submitter immunodeficiency disease
• c.1504+11A>G Single submitter immunodeficiency disease
• c.1504+13A>G Single submitter immunodeficiency disease
• c.1504+15T>C Single submitter immunodeficiency disease
• c.1504+17G>A Single submitter immunodeficiency disease
• c.1504+19G>A Single submitter immunodeficiency disease
• c.1504+20G>A Single submitter immunodeficiency disease
• c.1504+8C>T Single submitter immunodeficiency disease
• c.1504+9G>A Single submitter immunodeficiency disease
• c.1505-6A>G Single submitter immunodeficiency disease
• c.1557+12G>A Single submitter immunodeficiency disease
• c.1557+13del Single submitter immunodeficiency disease
• c.1557+14T>G Single submitter immunodeficiency disease
• c.1558-16C>T Single submitter immunodeficiency disease
• c.1690+12T>C Single submitter immunodeficiency disease
• c.1691-16A>C Single submitter immunodeficiency disease
• c.1691-20A>G Single submitter immunodeficiency disease
• c.1774+15C>A Single submitter immunodeficiency disease
• c.1774+8G>A Single submitter immunodeficiency disease
• c.1775-18G>C Single submitter immunodeficiency disease
• c.1775-19TG[4] Single submitter immunodeficiency disease
• c.1775-19TG[6] Single submitter immunodeficiency disease
• c.1775-4G>A Single submitter immunodeficiency disease
• c.1775-5T>C Single submitter immunodeficiency disease
• c.1775-6A>G Single submitter immunodeficiency disease
• c.1775-8A>G Single submitter immunodeficiency disease
• c.1923+10A>G Single submitter immunodeficiency disease
• c.1923+8dup Single submitter immunodeficiency disease
• c.1923+8G>C Single submitter
• c.1923+9T>A Single submitter immunodeficiency disease
• c.1923+9T>C Single submitter immunodeficiency disease
• c.1924-18G>A Single submitter immunodeficiency disease
• c.1924-4T>G Single submitter immunodeficiency disease
• c.254-8C>T Single submitter
• c.4414+11C>A Single submitter immunodeficiency disease
• c.4414+11C>G Single submitter
• c.4414+20C>G Single submitter immunodeficiency disease
• c.4414+7A>G Single submitter immunodeficiency disease
• c.4415-6C>T Single submitter immunodeficiency disease
• c.812+18T>A Single submitter immunodeficiency disease
• c.812+20A>T Single submitter immunodeficiency disease
• c.813-5C>G Single submitter immunodeficiency disease
• p.Ala1087= Single submitter immunodeficiency disease
• p.Ala1142= Single submitter immunodeficiency disease
• p.Ala1298= Single submitter immunodeficiency disease
• p.Ala1397= Single submitter immunodeficiency disease
• p.Ala1482= Single submitter immunodeficiency disease
• p.Ala1520Ser Single submitter immunodeficiency disease
• p.Ala245= Single submitter immunodeficiency disease
• p.Ala268= Single submitter immunodeficiency disease
• p.Ala411= Single submitter immunodeficiency disease
• p.Ala609= Single submitter immunodeficiency disease
• p.Ala768= Single submitter immunodeficiency disease
• p.Ala912= Single submitter immunodeficiency disease
• p.Ala98= Single submitter immunodeficiency disease
• p.Ala993= Single submitter immunodeficiency disease
• p.Arg156= Single submitter immunodeficiency disease
• p.Arg222= Single submitter immunodeficiency disease
• p.Arg227= Single submitter immunodeficiency disease
• p.Arg313= Single submitter immunodeficiency disease
• p.Arg370= Single submitter immunodeficiency disease
• p.Asn1094= Single submitter immunodeficiency disease
• p.Asn1262= Single submitter immunodeficiency disease
• p.Asn1356= Single submitter
• p.Asn1421= Single submitter immunodeficiency disease
• p.Asn1422= Single submitter immunodeficiency disease
• p.Asn1499= Single submitter immunodeficiency disease
• p.Asn1544= Single submitter immunodeficiency disease
• p.Asn203= Single submitter immunodeficiency disease
• p.Asn351= Single submitter immunodeficiency disease
• p.Asn410= Single submitter immunodeficiency disease
• p.Asn791= Single submitter immunodeficiency disease
• p.Asn837Ser Single submitter immunodeficiency disease
• p.Asn941= Single submitter immunodeficiency disease
• p.Asp117= Single submitter immunodeficiency disease
• p.Asp168= Single submitter immunodeficiency disease
• p.Asp196= Single submitter immunodeficiency disease
• p.Asp325= Single submitter immunodeficiency disease
• p.Asp513= Single submitter immunodeficiency disease
• p.Asp624= Single submitter immunodeficiency disease
• p.Asp847= Single submitter immunodeficiency disease
• p.Cys365= Single submitter immunodeficiency disease
• p.Gln1014= Single submitter immunodeficiency disease
• p.Gln1019= Single submitter immunodeficiency disease
• p.Gln1030= Single submitter immunodeficiency disease
• p.Gln1057= Single submitter immunodeficiency disease
• p.Gln1058= Single submitter immunodeficiency disease
• p.Gln1088= Single submitter immunodeficiency disease
• p.Gln1107= Single submitter immunodeficiency disease
• p.Gln1175= Single submitter immunodeficiency disease
• p.Gln1223= Single submitter immunodeficiency disease
• p.Gln1251= Single submitter immunodeficiency disease
• p.Gln1272= Single submitter immunodeficiency disease
• p.Gln1273= Single submitter immunodeficiency disease
• p.Gln1274= Single submitter immunodeficiency disease
• p.Gln1281= Single submitter immunodeficiency disease
• p.Gln1283= Single submitter immunodeficiency disease
• p.Gln1284= Single submitter immunodeficiency disease
• p.Gln1330= Single submitter immunodeficiency disease
• p.Gln1341= Single submitter immunodeficiency disease
• p.Gln1344= Single submitter immunodeficiency disease
• p.Gln1388= Single submitter immunodeficiency disease
• p.Gln1408= Single submitter immunodeficiency disease
• p.Gln1412= Single submitter immunodeficiency disease
• p.Gln1470= Single submitter immunodeficiency disease
• p.Gln290= Single submitter immunodeficiency disease
• p.Gln555= Single submitter immunodeficiency disease
• p.Gln682= Single submitter immunodeficiency disease
• p.Gln730= Single submitter immunodeficiency disease
• p.Gln751= Single submitter immunodeficiency disease
• p.Gln758= Single submitter immunodeficiency disease
• p.Gln760= Single submitter immunodeficiency disease
• p.Gln761= Single submitter immunodeficiency disease
• p.Gln817= Single submitter immunodeficiency disease
• p.Gln825= Single submitter immunodeficiency disease
• p.Gln854= Single submitter immunodeficiency disease
• p.Gln897= Single submitter immunodeficiency disease
• p.Gln899= Single submitter immunodeficiency disease
• p.Gln903= Single submitter
• p.Gln905= Single submitter immunodeficiency disease
• p.Gln906del Single submitter immunodeficiency disease
• p.Gln951= Single submitter immunodeficiency disease
• p.Gln990= Single submitter immunodeficiency disease
• p.Glu1217= Single submitter immunodeficiency disease
• p.Glu1339= Single submitter immunodeficiency disease
• p.Glu1363= Single submitter immunodeficiency disease
• p.Glu167= Single submitter immunodeficiency disease
• p.Glu180= Single submitter immunodeficiency disease
• p.Glu214= Single submitter immunodeficiency disease
• p.Glu299= Single submitter immunodeficiency disease
• p.Glu307= Single submitter
• p.Glu478= Single submitter immunodeficiency disease
• p.Glu509= Single submitter immunodeficiency disease
• p.Glu515= Single submitter immunodeficiency disease
• p.Glu754= Single submitter immunodeficiency disease
• p.Glu932= Single submitter immunodeficiency disease
• p.Gly1006= Single submitter immunodeficiency disease
• p.Gly1062= Single submitter immunodeficiency disease
• p.Gly1247= Single submitter immunodeficiency disease
• p.Gly1463= Single submitter immunodeficiency disease
• p.Gly229= Single submitter immunodeficiency disease
• p.Gly289= Single submitter immunodeficiency disease
• p.Gly360= Single submitter immunodeficiency disease
• p.Gly485= Single submitter immunodeficiency disease
• p.Gly597= Single submitter immunodeficiency disease
• p.Gly705= Single submitter immunodeficiency disease
• p.Gly96= Single submitter immunodeficiency disease
• p.His1112= Single submitter immunodeficiency disease
• p.His1371= Single submitter immunodeficiency disease
• p.His471= Single submitter immunodeficiency disease
• p.Ile1469= Single submitter immunodeficiency disease
• p.Ile380= Single submitter immunodeficiency disease
• p.Ile484= Single submitter immunodeficiency disease
• p.Ile523= Single submitter immunodeficiency disease
• p.Leu1089= Single submitter immunodeficiency disease
• p.Leu1110= Single submitter immunodeficiency disease
• p.Leu1226= Single submitter immunodeficiency disease
• p.Leu1233= Single submitter immunodeficiency disease
• p.Leu1369= Single submitter immunodeficiency disease
• p.Leu1392= Single submitter immunodeficiency disease
• p.Leu1508= Single submitter immunodeficiency disease
• p.Leu1519= Single submitter immunodeficiency disease
• p.Leu169= Single submitter immunodeficiency disease
• p.Leu184= Single submitter immunodeficiency disease
• p.Leu273= Single submitter immunodeficiency disease
• p.Leu406= Single submitter immunodeficiency disease
• p.Leu408= Single submitter immunodeficiency disease
• p.Leu431= Single submitter immunodeficiency disease
• p.Leu614= Single submitter immunodeficiency disease
• p.Leu653= Single submitter immunodeficiency disease
• p.Leu693= Single submitter immunodeficiency disease
• p.Leu722= Single submitter immunodeficiency disease
• p.Leu723= Single submitter immunodeficiency disease
• p.Leu972= Single submitter immunodeficiency disease
• p.Lys1016= Single submitter immunodeficiency disease
• p.Lys1301= Single submitter immunodeficiency disease
• p.Lys140= Single submitter immunodeficiency disease
• p.Lys476= Single submitter immunodeficiency disease
• p.Lys575= Single submitter
• p.Lys594= Single submitter immunodeficiency disease
• p.Lys634= Single submitter immunodeficiency disease
• p.Phe1250= Single submitter immunodeficiency disease
• p.Pro1132= Single submitter immunodeficiency disease
• p.Pro1182= Single submitter immunodeficiency disease
• p.Pro1187= Single submitter immunodeficiency disease
• p.Pro1205= Single submitter immunodeficiency disease
• p.Pro1221= Single submitter immunodeficiency disease
• p.Pro1222= Single submitter immunodeficiency disease
• p.Pro1335= Single submitter immunodeficiency disease
• p.Pro1419= Single submitter immunodeficiency disease
• p.Pro1485= Single submitter immunodeficiency disease
• p.Pro151= Single submitter immunodeficiency disease
• p.Pro1518= Single submitter immunodeficiency disease
• p.Pro165= Single submitter immunodeficiency disease
• p.Pro224= Single submitter immunodeficiency disease
• p.Pro453= Single submitter immunodeficiency disease
• p.Pro463= Single submitter immunodeficiency disease
• p.Pro537= Single submitter immunodeficiency disease
• p.Pro668= Single submitter immunodeficiency disease
• p.Pro708= Single submitter immunodeficiency disease
• p.Pro783= Single submitter immunodeficiency disease
• p.Pro79= Single submitter
• p.Ser1126= Single submitter immunodeficiency disease
• p.Ser1127= Single submitter immunodeficiency disease
• p.Ser1147= Single submitter immunodeficiency disease
• p.Ser1161= Single submitter immunodeficiency disease
• p.Ser1184= Single submitter immunodeficiency disease
• p.Ser1190= Single submitter immunodeficiency disease
• p.Ser1235= Single submitter immunodeficiency disease
• p.Ser1265= Single submitter immunodeficiency disease
• p.Ser1362= Single submitter immunodeficiency disease
• p.Ser1364= Single submitter immunodeficiency disease
• p.Ser1372= Single submitter immunodeficiency disease
• p.Ser1457= Single submitter immunodeficiency disease
• p.Ser1492= Single submitter immunodeficiency disease
• p.Ser247= Single submitter immunodeficiency disease
• p.Ser452= Single submitter immunodeficiency disease
• p.Ser508= Single submitter immunodeficiency disease
• p.Ser551= Single submitter immunodeficiency disease
• p.Ser637= Single submitter immunodeficiency disease
• p.Ser666= Single submitter immunodeficiency disease
• p.Ser669= Single submitter immunodeficiency disease
• p.Ser702= Single submitter immunodeficiency disease
• p.Ser719= Single submitter immunodeficiency disease
• p.Ser785= Single submitter immunodeficiency disease
• p.Ser828= Single submitter immunodeficiency disease
• p.Ser931= Single submitter immunodeficiency disease
• p.Ser947= Single submitter immunodeficiency disease
• p.Ser985= Single submitter immunodeficiency disease
• p.Thr1002= Single submitter immunodeficiency disease
• p.Thr109= Single submitter immunodeficiency disease
• p.Thr113= Single submitter immunodeficiency disease
• p.Thr116= Single submitter immunodeficiency disease
• p.Thr1350= Single submitter immunodeficiency disease
• p.Thr1367= Single submitter immunodeficiency disease
• p.Thr1404= Single submitter immunodeficiency disease
• p.Thr1447= Single submitter immunodeficiency disease
• p.Thr1478= Single submitter immunodeficiency disease
• p.Thr158= Single submitter immunodeficiency disease
• p.Thr260= Single submitter immunodeficiency disease
• p.Thr316= Single submitter immunodeficiency disease
• p.Thr333= Single submitter immunodeficiency disease
• p.Thr643= Single submitter immunodeficiency disease
• p.Thr695= Single submitter immunodeficiency disease
• p.Thr706= Single submitter immunodeficiency disease
• p.Thr727= Single submitter immunodeficiency disease
• p.Thr867= Single submitter immunodeficiency disease
• p.Thr870= Single submitter immunodeficiency disease
• p.Thr893= Single submitter immunodeficiency disease
• p.Thr986= Single submitter immunodeficiency disease
• p.Thr989= Single submitter immunodeficiency disease
• p.Thr994= Single submitter immunodeficiency disease
• p.Tyr161= Single submitter immunodeficiency disease
• p.Tyr291= Single submitter immunodeficiency disease
• p.Tyr314= Single submitter immunodeficiency disease
• p.Val1039= Single submitter immunodeficiency disease
• p.Val130= Single submitter immunodeficiency disease
• p.Val159= Single submitter immunodeficiency disease
• p.Val254= Single submitter immunodeficiency disease
• p.Val334= Single submitter immunodeficiency disease
• p.Val356= Single submitter immunodeficiency disease
• p.Val385= Single submitter immunodeficiency disease
• p.Val388= Single submitter immunodeficiency disease
• p.Val413= Single submitter
• p.Val435= Single submitter immunodeficiency disease

Uncertain significance 548

Showing the top 300 by review status; the full set is in the sitemap.

• p.Ala1219Ser Multiple submitters immunodeficiency disease ⚠
• p.Ala632Val Multiple submitters immunodeficiency disease ⚠
• p.Ala712Val Multiple submitters immunodeficiency disease ⚠
• p.Arg220Gln Multiple submitters immunodeficiency disease ⚠
• p.Arg582Lys Multiple submitters immunodeficiency disease ⚠
• p.Arg737Gly Multiple submitters immunodeficiency disease ⚠
• p.Asn1053Ser Multiple submitters immunodeficiency disease ⚠
• p.Asn1306Ser Multiple submitters immunodeficiency disease ⚠
• p.Asn677Ser Multiple submitters immunodeficiency disease ⚠
• p.Asn748Asp Multiple submitters immunodeficiency disease ⚠
• p.Asn778Asp Multiple submitters immunodeficiency disease ⚠
• p.Asp743Asn Multiple submitters immunodeficiency disease ⚠
• p.Gln1036Glu Multiple submitters immunodeficiency disease ⚠
• p.Gln1059Arg Multiple submitters NFAT5-related disorder ⚠
• p.Gln1100Glu Multiple submitters immunodeficiency disease ⚠
• p.Gln1330Arg Multiple submitters immunodeficiency disease ⚠
• p.Gln728Arg Multiple submitters immunodeficiency disease ⚠
• p.Gln735Leu Multiple submitters immunodeficiency disease ⚠
• p.Gln906dup Multiple submitters immunodeficiency disease
• p.Gln928Arg Multiple submitters immunodeficiency disease ⚠
• p.Gln991Arg Multiple submitters immunodeficiency disease ⚠
• p.Glu1387Gly Multiple submitters immunodeficiency disease ⚠
• p.Glu1530Lys Multiple submitters immunodeficiency disease ⚠
• p.Glu891Ala Multiple submitters immunodeficiency disease ⚠
• p.Gly1446Ser Multiple submitters immunodeficiency disease ⚠
• p.Gly97Ser Multiple submitters immunodeficiency disease ⚠
• p.Ile1117Val Multiple submitters immunodeficiency disease ⚠
• p.Ile1491Val Multiple submitters immunodeficiency disease ⚠
• p.Ile417Val Multiple submitters immunodeficiency disease ⚠
• p.Ile696Val Multiple submitters immunodeficiency disease ⚠
• p.Ile701Val Multiple submitters immunodeficiency disease ⚠
• p.Ile848Val Multiple submitters immunodeficiency disease ⚠
• p.Leu1508Arg Multiple submitters immunodeficiency disease ⚠
• p.Leu398Arg Multiple submitters immunodeficiency disease ⚠
• p.Met1049Val Multiple submitters immunodeficiency disease ⚠
• p.Met1165Ile Multiple submitters immunodeficiency disease ⚠
• p.Met1241Val Multiple submitters immunodeficiency disease ⚠
• p.Met1297Ile Multiple submitters immunodeficiency disease ⚠
• p.Met1297Val Multiple submitters immunodeficiency disease ⚠
• p.Met1336Val Multiple submitters immunodeficiency disease ⚠
• p.Met204Val Multiple submitters immunodeficiency disease ⚠
• p.Met593Val Multiple submitters immunodeficiency disease ⚠
• p.Met611Lys Multiple submitters immunodeficiency disease ⚠
• p.Met95Thr Multiple submitters ⚠
• p.Pro108Leu Multiple submitters immunodeficiency disease ⚠
• p.Pro1222Leu Multiple submitters immunodeficiency disease ⚠
• p.Pro1237Ser Multiple submitters immunodeficiency disease ⚠
• p.Pro607Ser Multiple submitters immunodeficiency disease ⚠
• p.Pro717Ser Multiple submitters immunodeficiency disease ⚠
• p.Pro763Thr Multiple submitters immunodeficiency disease ⚠
• p.Ser1109Phe Multiple submitters immunodeficiency disease ⚠
• p.Ser1137Cys Multiple submitters immunodeficiency disease ⚠
• p.Ser1362Leu Multiple submitters immunodeficiency disease ⚠
• p.Ser1457Pro Multiple submitters immunodeficiency disease ⚠
• p.Ser202Asn Multiple submitters immunodeficiency disease ⚠
• p.Ser702Leu Multiple submitters immunodeficiency disease ⚠
• p.Ser719Arg Multiple submitters immunodeficiency disease ⚠
• p.Ser947Leu Multiple submitters immunodeficiency disease ⚠
• p.Ser980Pro Multiple submitters immunodeficiency disease ⚠
• p.Thr109Ala Multiple submitters immunodeficiency disease ⚠
• p.Thr1172Ala Multiple submitters immunodeficiency disease ⚠
• p.Thr1525Ala Multiple submitters immunodeficiency disease ⚠
• p.Thr638Ser Multiple submitters immunodeficiency disease ⚠
• p.Thr698Asn Multiple submitters immunodeficiency disease ⚠
• p.Thr727Ala Multiple submitters immunodeficiency disease ⚠
• p.Thr893Met Multiple submitters immunodeficiency disease ⚠
• p.Val137Ile Multiple submitters immunodeficiency disease ⚠
• p.Val388Ile Multiple submitters immunodeficiency disease ⚠
• p.Val403Ile Multiple submitters immunodeficiency disease
• p.Val500Ala Multiple submitters Immunodeficiency and Autoimmune Enterocolopathy ⚠
• p.Val573Leu Multiple submitters immunodeficiency disease ⚠
• c.1005+1G>A Single submitter immunodeficiency disease
• c.1005+3A>G Single submitter immunodeficiency disease
• c.1197-3T>C Single submitter immunodeficiency disease
• c.1504+8C>G Single submitter immunodeficiency disease
• c.1557+5A>T Single submitter immunodeficiency disease
• c.1691-2A>T Single submitter immunodeficiency disease
• c.1691-3T>C Single submitter immunodeficiency disease
• c.1774+7A>G Single submitter immunodeficiency disease
• c.1923+6C>A Single submitter immunodeficiency disease
• c.4415-25_4432del Single submitter immunodeficiency disease
• c.812+4G>A Single submitter immunodeficiency disease
• p.Ala1087Gly Single submitter ⚠
• p.Ala1087Ser Single submitter immunodeficiency disease ⚠
• p.Ala1087Thr Single submitter ⚠
• p.Ala1087Val Single submitter immunodeficiency disease ⚠
• p.Ala1142Thr Single submitter immunodeficiency disease ⚠
• p.Ala1177Pro Single submitter immunodeficiency disease ⚠
• p.Ala1181Val Single submitter ⚠
• p.Ala1199Thr Single submitter immunodeficiency disease ⚠
• p.Ala1204Val Single submitter immunodeficiency disease ⚠
• p.Ala1232Thr Single submitter immunodeficiency disease ⚠
• p.Ala1258Val Single submitter immunodeficiency disease ⚠
• p.Ala1298Ser Single submitter immunodeficiency disease ⚠
• p.Ala1298Val Single submitter immunodeficiency disease ⚠
• p.Ala1401Thr Single submitter immunodeficiency disease ⚠
• p.Ala1437Pro Single submitter immunodeficiency disease ⚠
• p.Ala1444Thr Single submitter immunodeficiency disease ⚠
• p.Ala1444Val Single submitter immunodeficiency disease ⚠
• p.Ala268Val Single submitter immunodeficiency disease ⚠
• p.Ala399= Single submitter immunodeficiency disease
• p.Ala415Asp Single submitter immunodeficiency disease ⚠
• p.Ala510Gly Single submitter immunodeficiency disease ⚠
• p.Ala581Glu Single submitter immunodeficiency disease ⚠
• p.Ala589Ser Single submitter immunodeficiency disease ⚠
• p.Ala709Thr Single submitter immunodeficiency disease ⚠
• p.Ala726Thr Single submitter ⚠
• p.Ala74Val Single submitter ⚠
• p.Ala768Thr Single submitter ⚠
• p.Ala89Ser Single submitter ⚠
• p.Ala913Thr Single submitter immunodeficiency disease ⚠
• p.Ala927Thr Single submitter immunodeficiency disease ⚠
• p.Ala938Thr Single submitter immunodeficiency disease ⚠
• p.Ala993Ser Single submitter ⚠
• p.Arg135Gly Single submitter immunodeficiency disease ⚠
• p.Arg174Gln Single submitter ⚠
• p.Arg233Gln Single submitter immunodeficiency disease ⚠
• p.Arg326Ter Single submitter
• p.Arg370Gln Single submitter immunodeficiency disease ⚠
• p.Arg428His Single submitter immunodeficiency disease ⚠
• p.Arg434Gln Single submitter immunodeficiency disease ⚠
• p.Arg635Ile Single submitter immunodeficiency disease ⚠
• p.Arg635Thr Single submitter immunodeficiency disease ⚠
• p.Asn1020Asp Single submitter immunodeficiency disease ⚠
• p.Asn1077Ser Single submitter ⚠
• p.Asn1101Ser Single submitter immunodeficiency disease ⚠
• p.Asn1166Asp Single submitter immunodeficiency disease ⚠
• p.Asn1166Ser Single submitter immunodeficiency disease ⚠
• p.Asn1183Ser Single submitter immunodeficiency disease ⚠
• p.Asn1337Lys Single submitter ⚠
• p.Asn134Lys Single submitter ⚠
• p.Asn1449Ser Single submitter ⚠
• p.Asn1516Ser Single submitter immunodeficiency disease ⚠
• p.Asn1526Lys Single submitter ⚠
• p.Asn1544Ser Single submitter ⚠
• p.Asn270Ser Single submitter immunodeficiency disease ⚠
• p.Asn275Asp Single submitter ⚠
• p.Asn340Ser Single submitter immunodeficiency disease ⚠
• p.Asn34Ile Single submitter
• p.Asn351Ser Single submitter immunodeficiency disease ⚠
• p.Asn504Ile Single submitter immunodeficiency disease ⚠
• p.Asn504Ser Single submitter immunodeficiency disease ⚠
• p.Asn547Asp Single submitter immunodeficiency disease ⚠
• p.Asn599Tyr Single submitter ⚠
• p.Asn748Ser Single submitter immunodeficiency disease ⚠
• p.Asn784Ile Single submitter immunodeficiency disease ⚠
• p.Asn892Lys Single submitter ⚠
• p.Asn896Lys Single submitter ⚠
• p.Asn943Asp Single submitter ⚠
• p.Asn963Ile Single submitter immunodeficiency disease ⚠
• p.Asp1034Gly Single submitter immunodeficiency disease ⚠
• p.Asp1098Asn Single submitter immunodeficiency disease ⚠
• p.Asp117Asn Single submitter immunodeficiency disease ⚠
• p.Asp1410His Single submitter immunodeficiency disease
• p.Asp179His Single submitter immunodeficiency disease ⚠
• p.Asp835Val Single submitter immunodeficiency disease ⚠
• p.Asp847Ala Single submitter immunodeficiency disease ⚠
• p.Cys126Tyr Single submitter ⚠
• p.Cys182Tyr Single submitter immunodeficiency disease ⚠
• p.Cys288Tyr Single submitter
• p.Cys365Arg Single submitter immunodeficiency disease ⚠
• p.Cys598Arg Single submitter ⚠
• p.Cys598Tyr Single submitter immunodeficiency disease ⚠
• p.Gln1014His Single submitter immunodeficiency disease ⚠
• p.Gln1019Glu Single submitter immunodeficiency disease ⚠
• p.Gln1028Arg Single submitter immunodeficiency disease ⚠
• p.Gln1036His Single submitter immunodeficiency disease ⚠
• p.Gln1052Arg Single submitter immunodeficiency disease ⚠
• p.Gln1074Arg Single submitter immunodeficiency disease ⚠
• p.Gln1074His Single submitter immunodeficiency disease
• p.Gln1081His Single submitter immunodeficiency disease ⚠
• p.Gln1086Arg Single submitter immunodeficiency disease ⚠
• p.Gln1093Arg Single submitter immunodeficiency disease ⚠
• p.Gln1131Arg Single submitter immunodeficiency disease ⚠
• p.Gln1145Arg Single submitter ⚠
• p.Gln1145Lys Single submitter immunodeficiency disease ⚠
• p.Gln1154Glu Single submitter immunodeficiency disease ⚠
• p.Gln1162Leu Single submitter immunodeficiency disease ⚠
• p.Gln1175Pro Single submitter immunodeficiency disease ⚠
• p.Gln1189Arg Single submitter ⚠
• p.Gln1196Arg Single submitter immunodeficiency disease ⚠
• p.Gln1196Lys Single submitter immunodeficiency disease ⚠
• p.Gln1197Arg Single submitter immunodeficiency disease ⚠
• p.Gln1210Arg Single submitter immunodeficiency disease ⚠
• p.Gln1210His Single submitter immunodeficiency disease ⚠
• p.Gln1218Ter Single submitter immunodeficiency disease
• p.Gln122Lys Single submitter immunodeficiency disease ⚠
• p.Gln1243Glu Single submitter immunodeficiency disease ⚠
• p.Gln1270Arg Single submitter immunodeficiency disease ⚠
• p.Gln1275Arg Single submitter immunodeficiency disease ⚠
• p.Gln1277_Gln1284del Single submitter immunodeficiency disease
• p.Gln1278_Gln1284del Single submitter immunodeficiency disease
• p.Gln1281_Gln1284del Single submitter immunodeficiency disease
• p.Gln1283_Gln1284del Single submitter immunodeficiency disease
• p.Gln1283_Gln1284dup Single submitter immunodeficiency disease
• p.Gln1284_Ser1285insGln Single submitter immunodeficiency disease
• p.Gln1284_Ser1285insGlnGlnGlnGln Single submitter immunodeficiency disease
• p.Gln1324Arg Single submitter ⚠
• p.Gln1340Pro Single submitter immunodeficiency disease ⚠
• p.Gln1355Lys Single submitter immunodeficiency disease ⚠
• p.Gln1413Glu Single submitter immunodeficiency disease ⚠
• p.Gln1436Glu Single submitter immunodeficiency disease ⚠
• p.Gln1436His Single submitter immunodeficiency disease ⚠
• p.Gln1475Glu Single submitter immunodeficiency disease ⚠
• p.Gln1487Glu Single submitter ⚠
• p.Gln1496Pro Single submitter immunodeficiency disease ⚠
• p.Gln1498Arg Single submitter immunodeficiency disease ⚠
• p.Gln1541Arg Single submitter immunodeficiency disease ⚠
• p.Gln1541Pro Single submitter ⚠
• p.Gln290Pro Single submitter immunodeficiency disease ⚠
• p.Gln309fs Single submitter immunodeficiency disease
• p.Gln497Arg Single submitter immunodeficiency disease
• p.Gln532Leu Single submitter immunodeficiency disease ⚠
• p.Gln532Pro Single submitter immunodeficiency disease ⚠
• p.Gln680His Single submitter immunodeficiency disease ⚠
• p.Gln681Arg Single submitter immunodeficiency disease ⚠
• p.Gln682His Single submitter immunodeficiency disease ⚠
• p.Gln741Arg Single submitter immunodeficiency disease ⚠
• p.Gln761del Single submitter immunodeficiency disease
• p.Gln774Lys Single submitter immunodeficiency disease ⚠
• p.Gln794Glu Single submitter immunodeficiency disease ⚠
• p.Gln794Lys Single submitter immunodeficiency disease ⚠
• p.Gln817His Single submitter immunodeficiency disease
• p.Gln889Arg Single submitter immunodeficiency disease ⚠
• p.Gln897Arg Single submitter immunodeficiency disease ⚠
• p.Gln903Pro Single submitter immunodeficiency disease ⚠
• p.Gln904_Gln906del Single submitter immunodeficiency disease
• p.Gln905_Gln906del Single submitter immunodeficiency disease
• p.Gln906_Val907insGln Single submitter immunodeficiency disease
• p.Gln906_Val907insGlnGln Single submitter immunodeficiency disease
• p.Gln930His Single submitter immunodeficiency disease ⚠
• p.Gln945Arg Single submitter immunodeficiency disease ⚠
• p.Gln951His Single submitter ⚠
• p.Gln969His Single submitter immunodeficiency disease
• p.Gln991His Single submitter ⚠
• p.Glu1069Lys Single submitter immunodeficiency disease ⚠
• p.Glu1128Lys Single submitter immunodeficiency disease ⚠
• p.Glu124Asp Single submitter immunodeficiency disease ⚠
• p.Glu1267Lys Single submitter immunodeficiency disease ⚠
• p.Glu1363Asp Single submitter immunodeficiency disease ⚠
• p.Glu1387Lys Single submitter immunodeficiency disease ⚠
• p.Glu1500Lys Single submitter immunodeficiency disease ⚠
• p.Glu1515Asp Single submitter immunodeficiency disease ⚠
• p.Glu167Lys Single submitter immunodeficiency disease ⚠
• p.Glu478Ala Single submitter immunodeficiency disease ⚠
• p.Glu479Lys Single submitter immunodeficiency disease ⚠
• p.Glu480Val Single submitter immunodeficiency disease ⚠
• p.Glu515Asp Single submitter NFAT5-related disorder ⚠
• p.Glu754Lys Single submitter immunodeficiency disease ⚠
• p.Glu821Gln Single submitter immunodeficiency disease ⚠
• p.Glu842Gly Single submitter immunodeficiency disease ⚠
• p.Glu909Asp Single submitter immunodeficiency disease ⚠
• p.Gly1008Glu Single submitter immunodeficiency disease ⚠
• p.Gly1012Glu Single submitter immunodeficiency disease ⚠
• p.Gly1033Arg Single submitter immunodeficiency disease ⚠
• p.Gly1067Arg Single submitter immunodeficiency disease ⚠
• p.Gly1067Glu Single submitter immunodeficiency disease ⚠
• p.Gly1108Ser Single submitter immunodeficiency disease ⚠
• p.Gly1146Ser Single submitter immunodeficiency disease ⚠
• p.Gly1225Ser Single submitter immunodeficiency disease ⚠
• p.Gly1225Val Single submitter ⚠
• p.Gly1234Asp Single submitter immunodeficiency disease ⚠
• p.Gly131Ala Single submitter ⚠
• p.Gly1445Arg Single submitter immunodeficiency disease ⚠
• p.Gly1463Ala Single submitter immunodeficiency disease
• p.Gly1463Glu Single submitter ⚠
• p.Gly1468Asp Single submitter immunodeficiency disease ⚠
• p.Gly181Glu Single submitter immunodeficiency disease ⚠
• p.Gly389Ala Single submitter ⚠
• p.Gly389Ser Single submitter immunodeficiency disease ⚠
• p.Gly597Val Single submitter ⚠
• p.Gly647Glu Single submitter immunodeficiency disease ⚠
• p.Gly661Ala Single submitter ⚠
• p.Gly661Glu Single submitter immunodeficiency disease ⚠
• p.Gly663Ser Single submitter immunodeficiency disease ⚠
• p.Gly705Arg Single submitter immunodeficiency disease ⚠
• p.Gly808Asp Single submitter ⚠
• p.Gly858Asp Single submitter ⚠
• p.Gly862Glu Single submitter ⚠
• p.Gly862Val Single submitter immunodeficiency disease ⚠
• p.Gly981Val Single submitter immunodeficiency disease ⚠
• p.His1031Arg Single submitter immunodeficiency disease ⚠
• p.His1031Leu Single submitter immunodeficiency disease ⚠
• p.His150Gln Single submitter ⚠
• p.His252Leu Single submitter immunodeficiency disease ⚠
• p.His552Arg Single submitter immunodeficiency disease ⚠
• p.His887Arg Single submitter immunodeficiency disease ⚠
• p.Ile1096Val Single submitter ⚠
• p.Ile1141Val Single submitter immunodeficiency disease ⚠
• p.Ile1206Val Single submitter immunodeficiency disease ⚠
• p.Ile1256Val Single submitter immunodeficiency disease ⚠
• p.Ile1308Met Single submitter immunodeficiency disease ⚠
• p.Ile1406Val Single submitter immunodeficiency disease ⚠
• p.Ile1529Phe Single submitter immunodeficiency disease ⚠
• p.Ile1529Thr Single submitter ⚠
• p.Ile162Val Single submitter immunodeficiency disease ⚠
• p.Ile302Leu Single submitter immunodeficiency disease
• p.Ile454Val Single submitter immunodeficiency disease
• p.Ile465Met Single submitter immunodeficiency disease ⚠
• p.Ile465Val Single submitter immunodeficiency disease ⚠