WNK2 — 3137 ClinVar variants
All ClinVar germline WNK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1944 flagged for review →
1 Likely pathogenic · 3 Benign · 1 Benign/Likely benign · 1105 Likely benign · 2027 Uncertain significance
Full WNK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1944
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 1680
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1680
- WNK2 p.Pro1819Leu Uncertain significance Multiple submitters
- WNK2 p.Ala100Ser Uncertain significance Single submitter
- WNK2 p.Ala1016Thr Uncertain significance Single submitter
- WNK2 p.Ala1016Val Uncertain significance Single submitter
- WNK2 p.Ala1017Gly Uncertain significance Single submitter
- WNK2 p.Ala1017Ser Uncertain significance Single submitter
- WNK2 p.Ala1017Val Uncertain significance Single submitter
- WNK2 p.Ala1029Asp Uncertain significance Single submitter
- WNK2 p.Ala1032Val Uncertain significance Single submitter
- WNK2 p.Ala1036Val Uncertain significance Single submitter
- WNK2 p.Ala1037Val Uncertain significance Single submitter
- WNK2 p.Ala103Glu Uncertain significance Single submitter
- WNK2 p.Ala1048Val Uncertain significance Single submitter
- WNK2 p.Ala1061Val Uncertain significance Single submitter
- WNK2 p.Ala1062Ser Uncertain significance Single submitter
- WNK2 p.Ala1062Thr Uncertain significance Single submitter
- WNK2 p.Ala1062Val Uncertain significance Single submitter
- WNK2 p.Ala1074Pro Uncertain significance Single submitter
- WNK2 p.Ala1074Ser Uncertain significance Single submitter
- WNK2 p.Ala1074Thr Uncertain significance Single submitter
- WNK2 p.Ala1078Asp Uncertain significance Single submitter
- WNK2 p.Ala107Asp Uncertain significance Single submitter
- WNK2 p.Ala107Thr Uncertain significance Single submitter
- WNK2 p.Ala107Val Uncertain significance Single submitter
- WNK2 p.Ala1088Val Uncertain significance Single submitter
- WNK2 p.Ala1094Ser Uncertain significance Single submitter
- WNK2 p.Ala1094Thr Uncertain significance Single submitter
- WNK2 p.Ala1094Val Uncertain significance Single submitter
- WNK2 p.Ala1105Asp Uncertain significance Single submitter
- WNK2 p.Ala1105Thr Uncertain significance Single submitter
- WNK2 p.Ala110Asp Uncertain significance Single submitter
- WNK2 p.Ala110Pro Uncertain significance Single submitter
- WNK2 p.Ala110Ser Uncertain significance Single submitter
- WNK2 p.Ala110Val Uncertain significance Single submitter
- WNK2 p.Ala1123Pro Uncertain significance Single submitter
- WNK2 p.Ala1123Ser Uncertain significance Single submitter
- WNK2 p.Ala114Thr Uncertain significance Single submitter
- WNK2 p.Ala1156Asp Uncertain significance Single submitter
- WNK2 p.Ala1166Val Uncertain significance Single submitter
- WNK2 p.Ala1167Thr Uncertain significance Single submitter
- WNK2 p.Ala1177Gly Uncertain significance Single submitter
- WNK2 p.Ala1177Val Uncertain significance Single submitter
- WNK2 p.Ala1184Pro Uncertain significance Single submitter
- WNK2 p.Ala1184Ser Uncertain significance Single submitter
- WNK2 p.Ala1229Thr Uncertain significance Single submitter
- WNK2 p.Ala1241Thr Uncertain significance Single submitter
- WNK2 p.Ala1241Val Uncertain significance Single submitter
- WNK2 p.Ala1298Ser Uncertain significance Single submitter
- WNK2 p.Ala130Ser Uncertain significance Single submitter
- WNK2 p.Ala1319Asp Uncertain significance Single submitter
- WNK2 p.Ala1323Val Uncertain significance Single submitter
- WNK2 p.Ala1326Gly Uncertain significance Single submitter
- WNK2 p.Ala1326Thr Uncertain significance Single submitter
- WNK2 p.Ala1326Val Uncertain significance Single submitter
- WNK2 p.Ala1342Asp Uncertain significance Single submitter
- WNK2 p.Ala1342Gly Uncertain significance Single submitter
- WNK2 p.Ala1342Thr Uncertain significance Single submitter
- WNK2 p.Ala1347Val Uncertain significance Single submitter
- WNK2 p.Ala136Val Uncertain significance Single submitter
- WNK2 p.Ala1371Ser Uncertain significance Single submitter
- WNK2 p.Ala1379Thr Uncertain significance Single submitter
- WNK2 p.Ala1385Asp Uncertain significance Single submitter
- WNK2 p.Ala138Asp Uncertain significance Single submitter
- WNK2 p.Ala138Pro Uncertain significance Single submitter
- WNK2 p.Ala138Thr Uncertain significance Single submitter
- WNK2 p.Ala138Val Uncertain significance Single submitter
- WNK2 p.Ala1393Asp Uncertain significance Single submitter
- WNK2 p.Ala1399Glu Uncertain significance Single submitter
- WNK2 p.Ala1399Gly Uncertain significance Single submitter
- WNK2 p.Ala1400Thr Uncertain significance Single submitter
- WNK2 p.Ala1402Thr Uncertain significance Single submitter
- WNK2 p.Ala1410Glu Uncertain significance Single submitter
- WNK2 p.Ala1410Val Uncertain significance Single submitter
- WNK2 p.Ala1414Ser Uncertain significance Single submitter
- WNK2 p.Ala1417Thr Uncertain significance Single submitter
- WNK2 p.Ala1437Glu Uncertain significance Single submitter
- WNK2 p.Ala1442Ser Uncertain significance Single submitter
- WNK2 p.Ala1445Ser Uncertain significance Single submitter
- WNK2 p.Ala1445Val Uncertain significance Single submitter
- WNK2 p.Ala1454Thr Uncertain significance Single submitter
- WNK2 p.Ala1454Val Uncertain significance Single submitter
- WNK2 p.Ala1463Pro Uncertain significance Single submitter
- WNK2 p.Ala1463Val Uncertain significance Single submitter
- WNK2 p.Ala1468Thr Uncertain significance Single submitter
- WNK2 p.Ala1468Val Uncertain significance Single submitter
- WNK2 p.Ala1470Asp Uncertain significance Single submitter
- WNK2 p.Ala1470Val Uncertain significance Single submitter
- WNK2 p.Ala1479Ser Uncertain significance Single submitter
- WNK2 p.Ala147Glu Uncertain significance Single submitter
- WNK2 p.Ala147Thr Uncertain significance Single submitter
- WNK2 p.Ala147Val Uncertain significance Single submitter
- WNK2 p.Ala148Pro Uncertain significance Single submitter
- WNK2 p.Ala148Thr Uncertain significance Single submitter
- WNK2 p.Ala1492Ser Uncertain significance Single submitter
- WNK2 p.Ala1497Val Uncertain significance Single submitter
- WNK2 p.Ala149Val Uncertain significance Single submitter
- WNK2 p.Ala1502Ser Uncertain significance Single submitter
- WNK2 p.Ala1503Pro Uncertain significance Single submitter
- WNK2 p.Ala1503Thr Uncertain significance Single submitter
- WNK2 p.Ala1506Thr Uncertain significance Single submitter
- WNK2 p.Ala1506Val Uncertain significance Single submitter
- WNK2 p.Ala1510Ser Uncertain significance Single submitter
- WNK2 p.Ala1510Val Uncertain significance Single submitter
- WNK2 p.Ala1530Gly Uncertain significance Single submitter
- WNK2 p.Ala1570Asp Uncertain significance Single submitter
- WNK2 p.Ala1570Pro Uncertain significance Single submitter
- WNK2 p.Ala1570Ser Uncertain significance Single submitter
- WNK2 p.Ala1570Val Uncertain significance Single submitter
- WNK2 p.Ala158Val Uncertain significance Single submitter
- WNK2 p.Ala159Asp Uncertain significance Single submitter
- WNK2 p.Ala1603Gly Uncertain significance Single submitter
- WNK2 p.Ala1603Thr Uncertain significance Single submitter
- WNK2 p.Ala1603Val Uncertain significance Single submitter
- WNK2 p.Ala1611Ser Uncertain significance Single submitter
- WNK2 p.Ala1611Thr Uncertain significance Single submitter
- WNK2 p.Ala1611Val Uncertain significance Single submitter
- WNK2 p.Ala1634Val Uncertain significance Single submitter
- WNK2 p.Ala1664Val Uncertain significance Single submitter
- WNK2 p.Ala1701Glu Uncertain significance Single submitter
- WNK2 p.Ala1701Thr Uncertain significance Single submitter
- WNK2 p.Ala1715Ser Uncertain significance Single submitter
- WNK2 p.Ala1715Val Uncertain significance Single submitter
- WNK2 p.Ala1723Val Uncertain significance Single submitter
- WNK2 p.Ala1725Asp Uncertain significance Single submitter
- WNK2 p.Ala1742Ser Uncertain significance Single submitter
- WNK2 p.Ala1778Asp Uncertain significance Single submitter
- WNK2 p.Ala1778Gly Uncertain significance Single submitter
- WNK2 p.Ala1778Pro Uncertain significance Single submitter
- WNK2 p.Ala1778Val Uncertain significance Single submitter
- WNK2 p.Ala1787Val Uncertain significance Single submitter
- WNK2 p.Ala1794Thr Uncertain significance Single submitter
- WNK2 p.Ala1816Ser Uncertain significance Single submitter
- WNK2 p.Ala1824Thr Uncertain significance Single submitter
- WNK2 p.Ala1824Val Uncertain significance Single submitter
- WNK2 p.Ala1842Val Uncertain significance Single submitter
- WNK2 p.Ala1850Thr Uncertain significance Single submitter
- WNK2 p.Ala1850Val Uncertain significance Single submitter
- WNK2 p.Ala1921Val Uncertain significance Single submitter
- WNK2 p.Ala1940Thr Uncertain significance Single submitter
- WNK2 p.Ala1971Ser Uncertain significance Single submitter
- WNK2 p.Ala1978Thr Uncertain significance Single submitter
- WNK2 p.Ala1986Asp Uncertain significance Single submitter
- WNK2 p.Ala1992Val Uncertain significance Single submitter
- WNK2 p.Ala2007Thr Uncertain significance Single submitter
- WNK2 p.Ala2007Val Uncertain significance Single submitter
- WNK2 p.Ala2029Thr Uncertain significance Single submitter
- WNK2 p.Ala2035Thr Uncertain significance Single submitter
- WNK2 p.Ala2035Val Uncertain significance Single submitter
- WNK2 p.Ala2060Val Uncertain significance Single submitter
- WNK2 p.Ala2094Asp Uncertain significance Single submitter
Predictors split 264
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 264
- WNK2 p.Ala1224Gly Uncertain significance Single submitter
- WNK2 p.Ala1769Asp Uncertain significance Single submitter
- WNK2 p.Ala1769Thr Uncertain significance Single submitter
- WNK2 p.Ala187Val Uncertain significance Single submitter
- WNK2 p.Ala2018Asp Uncertain significance Single submitter
- WNK2 p.Ala2018Pro Uncertain significance Single submitter
- WNK2 p.Ala351Val Uncertain significance Single submitter
- WNK2 p.Ala451Asp Uncertain significance Single submitter
- WNK2 p.Ala451Thr Uncertain significance Single submitter
- WNK2 p.Ala454Thr Uncertain significance Single submitter
- WNK2 p.Ala464Gly Uncertain significance Single submitter
- WNK2 p.Ala475Thr Uncertain significance Single submitter
- WNK2 p.Ala537Gly Uncertain significance Single submitter
- WNK2 p.Ala86Thr Uncertain significance Single submitter
- WNK2 p.Ala86Val Uncertain significance Single submitter
- WNK2 p.Arg1161Ser Uncertain significance Single submitter
- WNK2 p.Arg1172Cys Uncertain significance Single submitter
- WNK2 p.Arg1173Met Uncertain significance Single submitter
- WNK2 p.Arg1173Ser Uncertain significance Single submitter
- WNK2 p.Arg1176Cys Uncertain significance Single submitter
- WNK2 p.Arg1176Gly Uncertain significance Single submitter
- WNK2 p.Arg1176His Uncertain significance Single submitter
- WNK2 p.Arg1178Cys Uncertain significance Single submitter
- WNK2 p.Arg1178His Uncertain significance Single submitter
- WNK2 p.Arg1178Leu Uncertain significance Single submitter
- WNK2 p.Arg1180Gln Uncertain significance Single submitter
- WNK2 p.Arg1180Leu Uncertain significance Single submitter
- WNK2 p.Arg1186Pro Uncertain significance Single submitter
- WNK2 p.Arg1188Trp Uncertain significance Single submitter
- WNK2 p.Arg1243Trp Uncertain significance Single submitter
- WNK2 p.Arg1557Gln Uncertain significance Single submitter
- WNK2 p.Arg1557Trp Uncertain significance Single submitter
- WNK2 p.Arg1747Gly Uncertain significance Single submitter
- WNK2 p.Arg1747His Uncertain significance Single submitter
- WNK2 p.Arg1790Leu Uncertain significance Single submitter
- WNK2 p.Arg1790Trp Uncertain significance Single submitter
- WNK2 p.Arg1901Gln Uncertain significance Single submitter
- WNK2 p.Arg1925Gly Uncertain significance Single submitter
- WNK2 p.Arg1925His Uncertain significance Single submitter
- WNK2 p.Arg1945Cys Uncertain significance Single submitter
- WNK2 p.Arg1945His Uncertain significance Single submitter
- WNK2 p.Arg1946Leu Uncertain significance Single submitter
- WNK2 p.Arg2059Gly Uncertain significance Single submitter
- WNK2 p.Arg2059His Uncertain significance Single submitter
- WNK2 p.Arg2059Pro Uncertain significance Single submitter
- WNK2 p.Arg2061Gln Uncertain significance Single submitter
- WNK2 p.Arg2077His Uncertain significance Single submitter
- WNK2 p.Arg2087Ser Uncertain significance Single submitter
- WNK2 p.Arg236Gln Uncertain significance Single submitter
- WNK2 p.Arg44His Uncertain significance Single submitter
- WNK2 p.Arg44Leu Uncertain significance Single submitter
- WNK2 p.Arg533Cys Uncertain significance Single submitter
- WNK2 p.Arg533His Uncertain significance Single submitter
- WNK2 p.Arg545Ser Uncertain significance Single submitter
- WNK2 p.Arg73His Uncertain significance Single submitter
- WNK2 p.Arg73Leu Uncertain significance Single submitter
- WNK2 p.Arg74Trp Uncertain significance Single submitter
- WNK2 p.Arg83Cys Uncertain significance Single submitter
- WNK2 p.Arg83Ser Uncertain significance Single submitter
- WNK2 p.Arg88Leu Uncertain significance Single submitter
- WNK2 p.Arg90Cys Uncertain significance Single submitter
- WNK2 p.Asn1933Lys Uncertain significance Single submitter
- WNK2 p.Asn2112Asp Uncertain significance Single submitter
- WNK2 p.Asn2116Lys Uncertain significance Single submitter
- WNK2 p.Asn493Lys Uncertain significance Single submitter
- WNK2 p.Asp1226Asn Uncertain significance Single submitter
- WNK2 p.Asp127Tyr Uncertain significance Single submitter
- WNK2 p.Asp1755Asn Uncertain significance Single submitter
- WNK2 p.Asp1772Ala Uncertain significance Single submitter
- WNK2 p.Asp1772His Uncertain significance Single submitter
- WNK2 p.Asp1776Val Uncertain significance Single submitter
- WNK2 p.Asp1808Asn Uncertain significance Single submitter
- WNK2 p.Asp1811Gly Uncertain significance Single submitter
- WNK2 p.Asp182Ala Uncertain significance Single submitter
- WNK2 p.Asp1883Asn Uncertain significance Single submitter
- WNK2 p.Asp1885Gly Uncertain significance Single submitter
- WNK2 p.Asp191Tyr Uncertain significance Single submitter
- WNK2 p.Asp446Asn Uncertain significance Single submitter
- WNK2 p.Asp508Asn Uncertain significance Single submitter
- WNK2 p.Asp613Glu Uncertain significance Single submitter
- WNK2 p.Asp613His Uncertain significance Single submitter
- WNK2 p.Asp617Asn Uncertain significance Single submitter
- WNK2 p.Asp617His Uncertain significance Single submitter
- WNK2 p.Asp627Glu Uncertain significance Single submitter
- WNK2 p.Asp627Gly Uncertain significance Single submitter
- WNK2 p.Cys1316Ser Uncertain significance Single submitter
- WNK2 p.Cys2014Ser Uncertain significance Single submitter
- WNK2 p.Cys2079Arg Uncertain significance Single submitter
- WNK2 p.Cys411Arg Uncertain significance Single submitter
- WNK2 p.Cys411Tyr Uncertain significance Single submitter
- WNK2 p.Cys435Ser Uncertain significance Single submitter
- WNK2 p.Gln1249Lys Uncertain significance Single submitter
- WNK2 p.Gln1792His Uncertain significance Single submitter
- WNK2 p.Gln2011Lys Uncertain significance Single submitter
- WNK2 p.Gln2012Leu Uncertain significance Single submitter
- WNK2 p.Gln2012Pro Uncertain significance Single submitter
- WNK2 p.Gln400His Uncertain significance Single submitter
- WNK2 p.Gln620Arg Uncertain significance Single submitter
- WNK2 p.Gln673Arg Uncertain significance Single submitter
- WNK2 p.Gln941His Uncertain significance Single submitter
- WNK2 p.Gln941Lys Uncertain significance Single submitter
- WNK2 p.Gln953Glu Uncertain significance Single submitter
- WNK2 p.Gln953Lys Uncertain significance Single submitter
- WNK2 p.Gln965His Uncertain significance Single submitter
- WNK2 p.Gln995Arg Uncertain significance Single submitter
- WNK2 p.Gln995Lys Uncertain significance Single submitter
- WNK2 p.Glu1203Asp Uncertain significance Single submitter
- WNK2 p.Glu1234Lys Uncertain significance Single submitter
- WNK2 p.Glu1242Gln Uncertain significance Single submitter
- WNK2 p.Glu1242Lys Uncertain significance Single submitter
- WNK2 p.Glu1248Lys Uncertain significance Single submitter
- WNK2 p.Glu1554Lys Uncertain significance Single submitter
- WNK2 p.Glu1756Gly Uncertain significance Single submitter
- WNK2 p.Glu1798Lys Uncertain significance Single submitter
- WNK2 p.Glu1889Asp Uncertain significance Single submitter
- WNK2 p.Glu1889Gly Uncertain significance Single submitter
- WNK2 p.Glu588Gly Uncertain significance Single submitter
- WNK2 p.Gly1198Val Uncertain significance Single submitter
- WNK2 p.Gly1309Arg Uncertain significance Single submitter
- WNK2 p.Gly1810Glu Uncertain significance Single submitter
- WNK2 p.Gly1927Ser Uncertain significance Single submitter
- WNK2 p.Gly1957Val Uncertain significance Single submitter
- WNK2 p.Gly2037Arg Uncertain significance Single submitter
- WNK2 p.Gly2037Asp Uncertain significance Single submitter
- WNK2 p.Gly2039Asp Uncertain significance Single submitter
- WNK2 p.Gly2065Glu Uncertain significance Single submitter
- WNK2 p.Gly2081Asp Uncertain significance Single submitter
- WNK2 p.Gly2199Arg Uncertain significance Single submitter
- WNK2 p.Gly619Val Uncertain significance Single submitter
- WNK2 p.Gly621Asp Uncertain significance Single submitter
- WNK2 p.Gly91Arg Uncertain significance Single submitter
- WNK2 p.His1211Gln Uncertain significance Single submitter
- WNK2 p.His1307Pro Uncertain significance Single submitter
- WNK2 p.His1874Asp Uncertain significance Single submitter
- WNK2 p.His372Tyr Uncertain significance Single submitter
- WNK2 p.Ile1023Ser Uncertain significance Single submitter
- WNK2 p.Ile1228Val Uncertain significance Single submitter
- WNK2 p.Ile1247Phe Uncertain significance Single submitter
- WNK2 p.Ile1549Met Uncertain significance Single submitter
- WNK2 p.Ile1880Thr Uncertain significance Single submitter
- WNK2 p.Ile474Leu Uncertain significance Single submitter
- WNK2 p.Leu1189Phe Uncertain significance Single submitter
- WNK2 p.Leu1220Phe Uncertain significance Single submitter
- WNK2 p.Leu1261Ile Uncertain significance Single submitter
- WNK2 p.Leu1261Phe Uncertain significance Single submitter
- WNK2 p.Leu1897Val Uncertain significance Single submitter
- WNK2 p.Leu1959Pro Uncertain significance Single submitter
- WNK2 p.Leu1960Arg Uncertain significance Single submitter
- WNK2 p.Leu1963Arg Uncertain significance Single submitter
- WNK2 p.Leu2020Arg Uncertain significance Single submitter
All WNK2 variants
Likely pathogenic 1
- p.Asp1601fs Single submitter Inborn genetic diseases
Benign 3
- c.2190+7G>A Multiple submitters
- p.Gly908Ala Multiple submitters
- c.1076-9C>T Single submitter
Benign/Likely benign 1
- p.Ala2109= Multiple submitters
Likely benign 1105
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala808= Multiple submitters
- p.Arg1849Trp Multiple submitters
- p.His758Asn Multiple submitters
- p.Pro1046= Multiple submitters
- p.Pro976= Multiple submitters
- p.Thr1308= Multiple submitters
- p.Ala100= Single submitter
- p.Ala103= Single submitter
- p.Ala1036= Single submitter
- p.Ala1036Thr Single submitter
- p.Ala1037= Single submitter
- p.Ala1048= Single submitter
- p.Ala1061= Single submitter
- p.Ala1062= Single submitter
- p.Ala1074= Single submitter
- p.Ala1078= Single submitter
- p.Ala1088= Single submitter
- p.Ala110= Single submitter
- p.Ala1105= Single submitter
- p.Ala112= Single submitter
- p.Ala1123= Single submitter
- p.Ala114= Single submitter
- p.Ala114Pro Single submitter
- p.Ala1156= Single submitter
- p.Ala1156Thr Single submitter
- p.Ala1166= Single submitter
- p.Ala1177Thr Single submitter
- p.Ala1184= Single submitter
- p.Ala1241= Single submitter
- p.Ala1257= Single submitter
- p.Ala1267= Single submitter
- p.Ala1298= Single submitter
- p.Ala131= Single submitter
- p.Ala1347= Single submitter
- p.Ala136= Single submitter
- p.Ala1363= Single submitter
- p.Ala1371= Single submitter
- p.Ala1385= Single submitter
- p.Ala1399= Single submitter
- p.Ala1410= Single submitter
- p.Ala1417= Single submitter
- p.Ala1437= Single submitter
- p.Ala1437Val Single submitter
- p.Ala1442= Single submitter
- p.Ala1445= Single submitter
- p.Ala1459= Single submitter
- p.Ala1463= Single submitter
- p.Ala147= Single submitter
- p.Ala1470= Single submitter
- p.Ala1479Val Single submitter
- p.Ala148= Single submitter
- p.Ala149= Single submitter
- p.Ala1492= Single submitter
- p.Ala1497Thr Single submitter
- p.Ala1502= Single submitter
- p.Ala1503Ser Single submitter
- p.Ala1506= Single submitter
- p.Ala1510= Single submitter
- p.Ala1530= Single submitter
- p.Ala1570= Single submitter
- p.Ala158= Single submitter
- p.Ala159= Single submitter
- p.Ala1611= Single submitter
- p.Ala1629= Single submitter
- p.Ala1634= Single submitter
- p.Ala1646= Single submitter
- p.Ala1664= Single submitter
- p.Ala1684= Single submitter
- p.Ala1701= Single submitter
- p.Ala1723= Single submitter
- p.Ala1723Thr Single submitter
- p.Ala1725= Single submitter
- p.Ala1742= Single submitter
- p.Ala1760= Single submitter
- p.Ala1769= Single submitter
- p.Ala1778= Single submitter
- p.Ala1791= Single submitter
- p.Ala1791Val Single submitter
- p.Ala1816= Single submitter
- p.Ala1824= Single submitter
- p.Ala185= Single submitter
- p.Ala1850= Single submitter
- p.Ala187= Single submitter
- p.Ala1891= Single submitter
- p.Ala1971= Single submitter
- p.Ala1998= Single submitter
- p.Ala2035= Single submitter
- p.Ala21= Single submitter
- p.Ala2104= Single submitter
- p.Ala2139= Single submitter
- p.Ala2140= Single submitter
- p.Ala2140Thr Single submitter
- p.Ala2162= Single submitter
- p.Ala2170= Single submitter
- p.Ala2175Thr Single submitter
- p.Ala2188= Single submitter
- p.Ala2200= Single submitter
- p.Ala2201Thr Single submitter
- p.Ala222= Single submitter
- p.Ala24= Single submitter
- p.Ala265= Single submitter
- p.Ala27= Single submitter
- p.Ala31= Single submitter
- p.Ala33= Single submitter
- p.Ala351= Single submitter
- p.Ala354= Single submitter
- p.Ala365= Single submitter
- p.Ala381= Single submitter
- p.Ala402= Single submitter
- p.Ala416= Single submitter
- p.Ala451= Single submitter
- p.Ala454= Single submitter
- p.Ala464= Single submitter
- p.Ala495= Single submitter
- p.Ala537= Single submitter
- p.Ala549= Single submitter
- p.Ala564= Single submitter
- p.Ala581= Single submitter
- p.Ala594= Single submitter
- p.Ala60= Single submitter
- p.Ala62= Single submitter
- p.Ala641= Single submitter
- p.Ala641Val Single submitter
- p.Ala644= Single submitter
- p.Ala671= Single submitter
- p.Ala678Thr Single submitter
- p.Ala688= Single submitter
- p.Ala690Thr Single submitter
- p.Ala707= Single submitter
- p.Ala771= Single submitter
- p.Ala783= Single submitter
- p.Ala783Val Single submitter
- p.Ala789= Single submitter
- p.Ala816= Single submitter
- p.Ala823= Single submitter
- p.Ala837= Single submitter
- p.Ala844Thr Single submitter
- p.Ala845= Single submitter
- p.Ala845Thr Single submitter
- p.Ala850= Single submitter
- p.Ala86= Single submitter
- p.Ala867= Single submitter
- p.Ala882Thr Single submitter
- p.Ala888= Single submitter
- p.Ala896= Single submitter
- p.Ala902= Single submitter
- p.Ala904= Single submitter
- p.Ala914= Single submitter
- p.Ala914Val Single submitter
- p.Ala920= Single submitter
- p.Ala920Val Single submitter
- p.Ala943= Single submitter
- p.Ala95= Single submitter
- p.Ala97= Single submitter
- p.Ala99= Single submitter
- p.Arg1165= Single submitter
- p.Arg1168= Single submitter
- p.Arg1172= Single submitter
- p.Arg1176= Single submitter
- p.Arg1180= Single submitter
- p.Arg1183= Single submitter
- p.Arg1186= Single submitter
- p.Arg1188= Single submitter
- p.Arg144= Single submitter
- p.Arg1466= Single submitter
- p.Arg1472Gly Single submitter
- p.Arg1632= Single submitter
- p.Arg1651= Single submitter
- p.Arg167= Single submitter
- p.Arg1682= Single submitter
- p.Arg1685= Single submitter
- p.Arg1685His Single submitter
- p.Arg169= Single submitter
- p.Arg170= Single submitter
- p.Arg1724Leu Single submitter
- p.Arg1730Gln Single submitter
- p.Arg1730Trp Single submitter
- p.Arg1732= Single submitter
- p.Arg1732His Single submitter
- p.Arg1747= Single submitter
- p.Arg1790= Single submitter
- p.Arg19= Single submitter
- p.Arg1901= Single submitter
- p.Arg1946= Single submitter
- p.Arg1947= Single submitter
- p.Arg1965= Single submitter
- p.Arg1965Gln Single submitter
- p.Arg2017= Single submitter
- p.Arg2036His Single submitter
- p.Arg2059= Single submitter
- p.Arg2177= Single submitter
- p.Arg2184Cys Single submitter
- p.Arg236= Single submitter
- p.Arg238= Single submitter
- p.Arg269= Single submitter
- p.Arg30= Single submitter
- p.Arg43= Single submitter
- p.Arg44= Single submitter
- p.Arg460= Single submitter
- p.Arg535= Single submitter
- p.Arg542= Single submitter
- p.Arg565= Single submitter
- p.Arg73= Single submitter
- p.Arg74= Single submitter
- p.Arg82= Single submitter
- p.Arg83= Single submitter
- p.Arg874Gln Single submitter
- p.Arg88= Single submitter
- p.Arg90= Single submitter
- p.Arg974= Single submitter
- p.Asn1196= Single submitter
- p.Asn1210= Single submitter
- p.Asn1297= Single submitter
- p.Asn1304= Single submitter
- p.Asn1933= Single submitter
- p.Asn1961= Single submitter
- p.Asn2115= Single submitter
- p.Asn253= Single submitter
- p.Asn437= Single submitter
- p.Asn493= Single submitter
- p.Asn934= Single submitter
- p.Asp1034= Single submitter
- p.Asp1126= Single submitter
- p.Asp1221= Single submitter
- p.Asp1223= Single submitter
- p.Asp1255= Single submitter
- p.Asp1259= Single submitter
- p.Asp1266= Single submitter
- p.Asp1351= Single submitter
- p.Asp1397= Single submitter
- p.Asp140= Single submitter
- p.Asp1467= Single submitter
- p.Asp1553= Single submitter
- p.Asp1601= Single submitter
- p.Asp1666= Single submitter
- p.Asp1676= Single submitter
- p.Asp1692= Single submitter
- p.Asp1707= Single submitter
- p.Asp171Glu Single submitter
- p.Asp1755= Single submitter
- p.Asp1776= Single submitter
- p.Asp178= Single submitter
- p.Asp1783= Single submitter
- p.Asp179= Single submitter
- p.Asp1811= Single submitter
- p.Asp182= Single submitter
- p.Asp1835= Single submitter
- p.Asp1883= Single submitter
- p.Asp191= Single submitter
- p.Asp1979= Single submitter
- p.Asp198= Single submitter
- p.Asp2= Single submitter
- p.Asp2031= Single submitter
- p.Asp2123= Single submitter
- p.Asp2124= Single submitter
- p.Asp2130= Single submitter
- p.Asp2157= Single submitter
- p.Asp259= Single submitter
- p.Asp378= Single submitter
- p.Asp423= Single submitter
- p.Asp456= Single submitter
- p.Asp492= Single submitter
- p.Asp524= Single submitter
- p.Asp595= Single submitter
- p.Asp811= Single submitter
- p.Asp819= Single submitter
- p.Asp9= Single submitter
- p.Asp923= Single submitter
- p.Cys1153= Single submitter
- p.Cys1195= Single submitter
- p.Cys1316= Single submitter
- p.Cys1456= Single submitter
- p.Cys224= Single submitter
- p.Cys302= Single submitter
- p.Cys652= Single submitter
- p.Cys79= Single submitter
- p.Gln1006= Single submitter
- p.Gln104Pro Single submitter
- p.Gln1119= Single submitter
- p.Gln1125= Single submitter
- p.Gln1181= Single submitter
- p.Gln1293= Single submitter
- p.Gln1302= Single submitter
- p.Gln1303= Single submitter
- p.Gln1365Pro Single submitter
- p.Gln1490= Single submitter
- p.Gln1719= Single submitter
- p.Gln1735= Single submitter
- p.Gln1754= Single submitter
- p.Gln1914= Single submitter
- p.Gln1966= Single submitter
- p.Gln2148= Single submitter
- p.Gln2151= Single submitter
- p.Gln2161= Single submitter
- p.Gln250= Single submitter
- p.Gln51= Single submitter
- p.Gln512= Single submitter
- p.Gln551= Single submitter
- p.Gln620= Single submitter
- p.Gln633= Single submitter
Uncertain significance 2027
Showing the top 300 by review status; the full set is in the sitemap.
- p.Pro1819Leu Multiple submitters ⚠
- c.854+1G>A Single submitter
- p.Ala100Ser Single submitter ⚠
- p.Ala1016Thr Single submitter ⚠
- p.Ala1016Val Single submitter ⚠
- p.Ala1017Gly Single submitter ⚠
- p.Ala1017Ser Single submitter ⚠
- p.Ala1017Val Single submitter ⚠
- p.Ala1029Asp Single submitter ⚠
- p.Ala1032Val Single submitter ⚠
- p.Ala1036Val Single submitter ⚠
- p.Ala1037Val Single submitter ⚠
- p.Ala103Glu Single submitter ⚠
- p.Ala1048Val Single submitter ⚠
- p.Ala1061Val Single submitter ⚠
- p.Ala1062Ser Single submitter ⚠
- p.Ala1062Thr Single submitter ⚠
- p.Ala1062Val Single submitter ⚠
- p.Ala1074Pro Single submitter ⚠
- p.Ala1074Ser Single submitter ⚠
- p.Ala1074Thr Single submitter ⚠
- p.Ala1078Asp Single submitter ⚠
- p.Ala107Asp Single submitter ⚠
- p.Ala107Thr Single submitter ⚠
- p.Ala107Val Single submitter ⚠
- p.Ala1088Val Single submitter ⚠
- p.Ala1094Ser Single submitter ⚠
- p.Ala1094Thr Single submitter ⚠
- p.Ala1094Val Single submitter ⚠
- p.Ala1105Asp Single submitter ⚠
- p.Ala1105Thr Single submitter ⚠
- p.Ala110Asp Single submitter ⚠
- p.Ala110Pro Single submitter ⚠
- p.Ala110Ser Single submitter ⚠
- p.Ala110Val Single submitter ⚠
- p.Ala1123Pro Single submitter ⚠
- p.Ala1123Ser Single submitter ⚠
- p.Ala114Thr Single submitter ⚠
- p.Ala1156Asp Single submitter ⚠
- p.Ala1166Val Single submitter ⚠
- p.Ala1167Thr Single submitter ⚠
- p.Ala1177Gly Single submitter ⚠
- p.Ala1177Val Single submitter ⚠
- p.Ala1184Pro Single submitter ⚠
- p.Ala1184Ser Single submitter ⚠
- p.Ala1224Gly Single submitter ⚠
- p.Ala1229Thr Single submitter ⚠
- p.Ala1241Thr Single submitter ⚠
- p.Ala1241Val Single submitter ⚠
- p.Ala1298Ser Single submitter ⚠
- p.Ala130Ser Single submitter ⚠
- p.Ala1319Asp Single submitter ⚠
- p.Ala1323Val Single submitter ⚠
- p.Ala1326Gly Single submitter ⚠
- p.Ala1326Thr Single submitter ⚠
- p.Ala1326Val Single submitter ⚠
- p.Ala1342Asp Single submitter ⚠
- p.Ala1342Gly Single submitter ⚠
- p.Ala1342Thr Single submitter ⚠
- p.Ala1347Val Single submitter ⚠
- p.Ala136Val Single submitter ⚠
- p.Ala1371Ser Single submitter ⚠
- p.Ala1379Thr Single submitter ⚠
- p.Ala1385Asp Single submitter ⚠
- p.Ala138Asp Single submitter ⚠
- p.Ala138Pro Single submitter ⚠
- p.Ala138Thr Single submitter ⚠
- p.Ala138Val Single submitter ⚠
- p.Ala1393Asp Single submitter ⚠
- p.Ala1399Glu Single submitter ⚠
- p.Ala1399Gly Single submitter ⚠
- p.Ala1400Thr Single submitter ⚠
- p.Ala1402Thr Single submitter ⚠
- p.Ala1410Glu Single submitter ⚠
- p.Ala1410Val Single submitter ⚠
- p.Ala1414Ser Single submitter ⚠
- p.Ala1417Thr Single submitter ⚠
- p.Ala1437Glu Single submitter ⚠
- p.Ala1442Ser Single submitter ⚠
- p.Ala1445Ser Single submitter ⚠
- p.Ala1445Val Single submitter ⚠
- p.Ala1454Thr Single submitter ⚠
- p.Ala1454Val Single submitter ⚠
- p.Ala1463Pro Single submitter ⚠
- p.Ala1463Val Single submitter ⚠
- p.Ala1468Thr Single submitter ⚠
- p.Ala1468Val Single submitter ⚠
- p.Ala1470Asp Single submitter ⚠
- p.Ala1470Val Single submitter ⚠
- p.Ala1479Ser Single submitter ⚠
- p.Ala147Glu Single submitter ⚠
- p.Ala147Thr Single submitter ⚠
- p.Ala147Val Single submitter ⚠
- p.Ala148Pro Single submitter ⚠
- p.Ala148Thr Single submitter ⚠
- p.Ala1492Ser Single submitter ⚠
- p.Ala1497Val Single submitter ⚠
- p.Ala149Val Single submitter ⚠
- p.Ala1502Ser Single submitter ⚠
- p.Ala1503Pro Single submitter ⚠
- p.Ala1503Thr Single submitter ⚠
- p.Ala1506Thr Single submitter ⚠
- p.Ala1506Val Single submitter ⚠
- p.Ala1510Ser Single submitter ⚠
- p.Ala1510Val Single submitter ⚠
- p.Ala1530Gly Single submitter ⚠
- p.Ala1570Asp Single submitter ⚠
- p.Ala1570Pro Single submitter ⚠
- p.Ala1570Ser Single submitter ⚠
- p.Ala1570Val Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala159Asp Single submitter ⚠
- p.Ala1603Gly Single submitter ⚠
- p.Ala1603Thr Single submitter ⚠
- p.Ala1603Val Single submitter ⚠
- p.Ala1611Ser Single submitter ⚠
- p.Ala1611Thr Single submitter ⚠
- p.Ala1611Val Single submitter ⚠
- p.Ala1634Val Single submitter ⚠
- p.Ala1664Val Single submitter ⚠
- p.Ala1701Glu Single submitter ⚠
- p.Ala1701Thr Single submitter ⚠
- p.Ala1715Ser Single submitter ⚠
- p.Ala1715Val Single submitter ⚠
- p.Ala1723Val Single submitter ⚠
- p.Ala1725Asp Single submitter ⚠
- p.Ala1742Ser Single submitter ⚠
- p.Ala1769Asp Single submitter ⚠
- p.Ala1769Thr Single submitter ⚠
- p.Ala1778Asp Single submitter ⚠
- p.Ala1778Gly Single submitter ⚠
- p.Ala1778Pro Single submitter ⚠
- p.Ala1778Val Single submitter ⚠
- p.Ala1787Val Single submitter ⚠
- p.Ala1794Thr Single submitter ⚠
- p.Ala1816Ser Single submitter ⚠
- p.Ala1824Thr Single submitter ⚠
- p.Ala1824Val Single submitter ⚠
- p.Ala1840Thr Single submitter
- p.Ala1842Val Single submitter ⚠
- p.Ala1850Thr Single submitter ⚠
- p.Ala1850Val Single submitter ⚠
- p.Ala187Val Single submitter ⚠
- p.Ala1921Val Single submitter ⚠
- p.Ala1940Thr Single submitter ⚠
- p.Ala1971Ser Single submitter ⚠
- p.Ala1978Thr Single submitter ⚠
- p.Ala1986Asp Single submitter ⚠
- p.Ala1992Val Single submitter ⚠
- p.Ala2007Thr Single submitter ⚠
- p.Ala2007Val Single submitter ⚠
- p.Ala2018Asp Single submitter ⚠
- p.Ala2018Pro Single submitter ⚠
- p.Ala2018Thr Single submitter
- p.Ala2029Thr Single submitter ⚠
- p.Ala2035Thr Single submitter ⚠
- p.Ala2035Val Single submitter ⚠
- p.Ala2060Val Single submitter ⚠
- p.Ala2094Asp Single submitter ⚠
- p.Ala2104Val Single submitter ⚠
- p.Ala2109Glu Single submitter ⚠
- p.Ala2109Ser Single submitter ⚠
- p.Ala2109Val Single submitter ⚠
- p.Ala2139Asp Single submitter ⚠
- p.Ala2139Thr Single submitter ⚠
- p.Ala2140Val Single submitter ⚠
- p.Ala2160Pro Single submitter ⚠
- p.Ala2160Thr Single submitter ⚠
- p.Ala2160Val Single submitter ⚠
- p.Ala2165Gly Single submitter ⚠
- p.Ala2165Val Single submitter ⚠
- p.Ala2166Asp Single submitter ⚠
- p.Ala2166Ser Single submitter ⚠
- p.Ala2170Glu Single submitter ⚠
- p.Ala2172Ser Single submitter ⚠
- p.Ala2172Val Single submitter ⚠
- p.Ala2178Gly Single submitter ⚠
- p.Ala2178Val Single submitter ⚠
- p.Ala2188Pro Single submitter ⚠
- p.Ala2188Ser Single submitter ⚠
- p.Ala2188Val Single submitter ⚠
- p.Ala21Ser Single submitter ⚠
- p.Ala2200Asp Single submitter ⚠
- p.Ala2200Thr Single submitter ⚠
- p.Ala2200Val Single submitter ⚠
- p.Ala24Glu Single submitter ⚠
- p.Ala24Pro Single submitter ⚠
- p.Ala24Thr Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala265Val Single submitter ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala31Val Single submitter ⚠
- p.Ala33Glu Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala351Thr Single submitter ⚠
- p.Ala351Val Single submitter ⚠
- p.Ala365Val Single submitter ⚠
- p.Ala451Asp Single submitter ⚠
- p.Ala451Thr Single submitter ⚠
- p.Ala454Thr Single submitter ⚠
- p.Ala464Gly Single submitter ⚠
- p.Ala464Ser Single submitter ⚠
- p.Ala475Thr Single submitter ⚠
- p.Ala495Asp Single submitter ⚠
- p.Ala511Val Single submitter ⚠
- p.Ala537Gly Single submitter ⚠
- p.Ala549Ser Single submitter ⚠
- p.Ala549Thr Single submitter ⚠
- p.Ala549Val Single submitter ⚠
- p.Ala564Val Single submitter ⚠
- p.Ala579Thr Single submitter ⚠
- p.Ala581Gly Single submitter ⚠
- p.Ala581Ser Single submitter ⚠
- p.Ala581Val Single submitter ⚠
- p.Ala594Thr Single submitter ⚠
- p.Ala607Thr Single submitter ⚠
- p.Ala607Val Single submitter ⚠
- p.Ala60Asp Single submitter ⚠
- p.Ala611Asp Single submitter
- p.Ala641Asp Single submitter ⚠
- p.Ala643Ser Single submitter ⚠
- p.Ala643Thr Single submitter ⚠
- p.Ala644Val Single submitter ⚠
- p.Ala648Val Single submitter ⚠
- p.Ala671Thr Single submitter ⚠
- p.Ala671Val Single submitter ⚠
- p.Ala677Val Single submitter ⚠
- p.Ala688Asp Single submitter ⚠
- p.Ala688Val Single submitter ⚠
- p.Ala690Pro Single submitter ⚠
- p.Ala690Val Single submitter ⚠
- p.Ala703Thr Single submitter ⚠
- p.Ala707Thr Single submitter ⚠
- p.Ala707Val Single submitter ⚠
- p.Ala725Pro Single submitter ⚠
- p.Ala725Ser Single submitter ⚠
- p.Ala735Asp Single submitter ⚠
- p.Ala745Val Single submitter ⚠
- p.Ala771Thr Single submitter ⚠
- p.Ala771Val Single submitter ⚠
- p.Ala773Ser Single submitter ⚠
- p.Ala773Thr Single submitter ⚠
- p.Ala789Pro Single submitter ⚠
- p.Ala789Thr Single submitter ⚠
- p.Ala789Val Single submitter ⚠
- p.Ala808Glu Single submitter ⚠
- p.Ala808Thr Single submitter ⚠
- p.Ala823Ser Single submitter ⚠
- p.Ala823Thr Single submitter ⚠
- p.Ala823Val Single submitter ⚠
- p.Ala837Val Single submitter ⚠
- p.Ala844Ser Single submitter ⚠
- p.Ala845Val Single submitter ⚠
- p.Ala850Glu Single submitter ⚠
- p.Ala853Asp Single submitter ⚠
- p.Ala853Ser Single submitter ⚠
- p.Ala853Val Single submitter ⚠
- p.Ala858Val Single submitter ⚠
- p.Ala867Val Single submitter ⚠
- p.Ala86Thr Single submitter ⚠
- p.Ala86Val Single submitter ⚠
- p.Ala870Thr Single submitter ⚠
- p.Ala880Ser Single submitter ⚠
- p.Ala880Thr Single submitter ⚠
- p.Ala888Val Single submitter ⚠
- p.Ala890Val Single submitter ⚠
- p.Ala895Val Single submitter ⚠
- p.Ala896Thr Single submitter ⚠
- p.Ala896Val Single submitter ⚠
- p.Ala89Pro Single submitter ⚠
- p.Ala902Val Single submitter ⚠
- p.Ala914Pro Single submitter ⚠
- p.Ala915Thr Single submitter ⚠
- p.Ala920Ser Single submitter ⚠
- p.Ala94Gly Single submitter ⚠
- p.Ala94Ser Single submitter ⚠
- p.Ala94Val Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Ala97Thr Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Ala997Thr Single submitter ⚠
- p.Ala997Val Single submitter ⚠
- p.Ala99fs Single submitter
- p.Ala99Glu Single submitter ⚠
- p.Arg1001Cys Single submitter ⚠
- p.Arg1001His Single submitter ⚠
- p.Arg1001Leu Single submitter ⚠
- p.Arg1001Pro Single submitter ⚠
- p.Arg1161Ser Single submitter ⚠
- p.Arg1168Gly Single submitter ⚠
- p.Arg1172Cys Single submitter ⚠
- p.Arg1172His Single submitter
- p.Arg1173Met Single submitter ⚠
- p.Arg1173Ser Single submitter ⚠
- p.Arg1176Cys Single submitter ⚠
- p.Arg1176Gly Single submitter ⚠
- p.Arg1176His Single submitter ⚠
- p.Arg1178Cys Single submitter ⚠
- p.Arg1178His Single submitter ⚠