TET2 — 2007 ClinVar variants
All ClinVar germline TET2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1119 flagged for review →
149 Pathogenic · 2 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 11 Conflicting · 26 Benign · 12 Benign/Likely benign · 573 Likely benign · 1212 Uncertain significance
Full TET2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1119
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 1057
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 1057
- TET2 p.Ala1072Pro Uncertain significance Multiple submitters
-
TET2 p.Ala1769Pro
Uncertain significance
Multiple submitters
immunodeficiency 75
- TET2 p.Ala277Thr Uncertain significance Multiple submitters
-
TET2 p.Arg1095Lys
Uncertain significance
Multiple submitters
immunodeficiency 75
- TET2 p.Arg1134Thr Uncertain significance Multiple submitters
- TET2 p.Arg1572Gln Uncertain significance Multiple submitters
- TET2 p.Arg369Trp Uncertain significance Multiple submitters
-
TET2 p.Arg571His
Uncertain significance
Multiple submitters
immunodeficiency 75
- TET2 p.Arg73Cys Uncertain significance Multiple submitters
- TET2 p.Arg814His Uncertain significance Multiple submitters
- TET2 p.Asn140Asp Uncertain significance Multiple submitters
- TET2 p.Asn1636Lys Uncertain significance Multiple submitters
- TET2 p.Asn176Lys Uncertain significance Multiple submitters
- TET2 p.Asn258Ser Uncertain significance Multiple submitters
- TET2 p.Asn275Lys Uncertain significance Multiple submitters
-
TET2 p.Asn610Ser
Uncertain significance
Multiple submitters
immunodeficiency 75
- TET2 p.Asn837Ser Uncertain significance Multiple submitters
- TET2 p.Asn926Thr Uncertain significance Multiple submitters
- TET2 p.Asp688Val Uncertain significance Multiple submitters
- TET2 p.Asp877Glu Uncertain significance Multiple submitters
- TET2 p.Asp877Gly Uncertain significance Multiple submitters
- TET2 p.Cys1263Tyr Uncertain significance Multiple submitters
- TET2 p.Cys237Tyr Uncertain significance Multiple submitters
- TET2 p.Cys25Phe Uncertain significance Multiple submitters
- TET2 p.Gln635Arg Uncertain significance Multiple submitters
- TET2 p.Gln674Arg Uncertain significance Multiple submitters
- TET2 p.Gln743His Uncertain significance Multiple submitters
- TET2 p.Glu135Gly Uncertain significance Multiple submitters
- TET2 p.Glu783Gly Uncertain significance Multiple submitters
- TET2 p.Glu81Val Uncertain significance Multiple submitters
- TET2 p.Gly378Arg Uncertain significance Multiple submitters
-
TET2 p.Gly429Arg
Uncertain significance
Multiple submitters
immunodeficiency 75
-
TET2 p.His1380Tyr
Uncertain significance
Multiple submitters
myelodysplastic syndrome
-
TET2 p.His1382Arg
Uncertain significance
Multiple submitters
angioimmunoblastic T-cell lymphoma
- TET2 p.His248Gln Uncertain significance Multiple submitters
- TET2 p.His578Arg Uncertain significance Multiple submitters
- TET2 p.His658Tyr Uncertain significance Multiple submitters
- TET2 p.His880Arg Uncertain significance Multiple submitters
- TET2 p.His994Tyr Uncertain significance Multiple submitters
- TET2 p.Ile1762Leu Uncertain significance Multiple submitters
- TET2 p.Ile1871Val Uncertain significance Multiple submitters
- TET2 p.Ile340Thr Uncertain significance Multiple submitters
- TET2 p.Ile873Leu Uncertain significance Multiple submitters
- TET2 p.Ile981Val Uncertain significance Multiple submitters
- TET2 p.Leu1032Val Uncertain significance Multiple submitters
- TET2 p.Leu1048Val Uncertain significance Multiple submitters
-
TET2 p.Leu307Arg
Uncertain significance
Multiple submitters
immunodeficiency 75
- TET2 p.Leu30Pro Uncertain significance Multiple submitters
- TET2 p.Leu445Phe Uncertain significance Multiple submitters
- TET2 p.Leu446Ser Uncertain significance Multiple submitters
- TET2 p.Leu694Phe Uncertain significance Multiple submitters
- TET2 p.Lys1004Ile Uncertain significance Multiple submitters
- TET2 p.Lys1055Glu Uncertain significance Multiple submitters
- TET2 p.Lys1110Gln Uncertain significance Multiple submitters
- TET2 p.Lys188Arg Uncertain significance Multiple submitters
-
TET2 p.Lys423Arg
Uncertain significance
Multiple submitters
myelodysplastic syndrome
- TET2 p.Met1058Val Uncertain significance Multiple submitters
- TET2 p.Met695Thr Uncertain significance Multiple submitters
- TET2 p.Met804Leu Uncertain significance Multiple submitters
- TET2 p.Met906Arg Uncertain significance Multiple submitters
- TET2 p.Phe928Ser Uncertain significance Multiple submitters
- TET2 p.Pro101Thr Uncertain significance Multiple submitters
- TET2 p.Pro1535Ser Uncertain significance Multiple submitters
- TET2 p.Pro1713Ser Uncertain significance Multiple submitters
- TET2 p.Pro1962Leu Uncertain significance Multiple submitters
- TET2 p.Pro39Leu Uncertain significance Multiple submitters
- TET2 p.Pro761Leu Uncertain significance Multiple submitters
- TET2 p.Pro931Ala Uncertain significance Multiple submitters
- TET2 p.Ser1015Gly Uncertain significance Multiple submitters
- TET2 p.Ser1109Phe Uncertain significance Multiple submitters
-
TET2 p.Ser1246Leu
Uncertain significance
Multiple submitters
TET2-related disorder
- TET2 p.Ser1577Arg Uncertain significance Multiple submitters
- TET2 p.Ser261Phe Uncertain significance Multiple submitters
- TET2 p.Thr1086Ser Uncertain significance Multiple submitters
- TET2 p.Thr221Ile Uncertain significance Multiple submitters
- TET2 p.Thr27Arg Uncertain significance Multiple submitters
- TET2 p.Thr444Ile Uncertain significance Multiple submitters
- TET2 p.Thr497Ser Uncertain significance Multiple submitters
- TET2 p.Thr625Ala Uncertain significance Multiple submitters
- TET2 p.Thr759Pro Uncertain significance Multiple submitters
- TET2 p.Thr995Ile Uncertain significance Multiple submitters
-
TET2 p.Tyr1649Cys
Uncertain significance
Multiple submitters
TET2-related disorder
- TET2 p.Val1426Met Uncertain significance Multiple submitters
- TET2 p.Val1432Met Uncertain significance Multiple submitters
- TET2 p.Val160Ile Uncertain significance Multiple submitters
- TET2 p.Val485Leu Uncertain significance Multiple submitters
- TET2 p.Ala1014Ser Uncertain significance Single submitter
- TET2 p.Ala1037Ser Uncertain significance Single submitter
- TET2 p.Ala1037Thr Uncertain significance Single submitter
- TET2 p.Ala1045Ser Uncertain significance Single submitter
- TET2 p.Ala1045Val Uncertain significance Single submitter
- TET2 p.Ala1072Glu Uncertain significance Single submitter
- TET2 p.Ala1072Thr Uncertain significance Single submitter
- TET2 p.Ala1072Val Uncertain significance Single submitter
- TET2 p.Ala1080Val Uncertain significance Single submitter
- TET2 p.Ala1097Pro Uncertain significance Single submitter
- TET2 p.Ala1158Thr Uncertain significance Single submitter
- TET2 p.Ala118Gly Uncertain significance Single submitter
- TET2 p.Ala1443Val Uncertain significance Single submitter
- TET2 p.Ala1505Thr Uncertain significance Single submitter
- TET2 p.Ala155Val Uncertain significance Single submitter
- TET2 p.Ala1837Gly Uncertain significance Single submitter
- TET2 p.Ala190Val Uncertain significance Single submitter
- TET2 p.Ala204Glu Uncertain significance Single submitter
- TET2 p.Ala204Ser Uncertain significance Single submitter
- TET2 p.Ala204Thr Uncertain significance Single submitter
- TET2 p.Ala215Pro Uncertain significance Single submitter
- TET2 p.Ala251Val Uncertain significance Single submitter
- TET2 p.Ala256Gly Uncertain significance Single submitter
- TET2 p.Ala289Thr Uncertain significance Single submitter
- TET2 p.Ala295Val Uncertain significance Single submitter
- TET2 p.Ala304Thr Uncertain significance Single submitter
- TET2 p.Ala308Gly Uncertain significance Single submitter
- TET2 p.Ala309Thr Uncertain significance Single submitter
- TET2 p.Ala379Thr Uncertain significance Single submitter
- TET2 p.Ala569Asp Uncertain significance Single submitter
- TET2 p.Ala569Pro Uncertain significance Single submitter
- TET2 p.Ala569Ser Uncertain significance Single submitter
- TET2 p.Ala569Thr Uncertain significance Single submitter
- TET2 p.Ala575Val Uncertain significance Single submitter
- TET2 p.Ala619Gly Uncertain significance Single submitter
- TET2 p.Ala671Thr Uncertain significance Single submitter
- TET2 p.Ala687Val Uncertain significance Single submitter
- TET2 p.Ala707Thr Uncertain significance Single submitter
- TET2 p.Ala727Ser Uncertain significance Single submitter
- TET2 p.Ala728Thr Uncertain significance Single submitter
- TET2 p.Ala911Gly Uncertain significance Single submitter
- TET2 p.Ala911Thr Uncertain significance Single submitter
- TET2 p.Ala951Val Uncertain significance Single submitter
- TET2 p.Ala991Ser Uncertain significance Single submitter
- TET2 p.Ala996Val Uncertain significance Single submitter
- TET2 p.Arg1134Ser Uncertain significance Single submitter
- TET2 p.Arg1167Gly Uncertain significance Single submitter
- TET2 p.Arg1167Trp Uncertain significance Single submitter
- TET2 p.Arg1214Gln Uncertain significance Single submitter
- TET2 p.Arg122Ile Uncertain significance Single submitter
- TET2 p.Arg123Cys Uncertain significance Single submitter
- TET2 p.Arg123Gly Uncertain significance Single submitter
-
TET2 p.Arg123His
Uncertain significance
Single submitter
TET2-related disorder
- TET2 p.Arg123Leu Uncertain significance Single submitter
- TET2 p.Arg123Pro Uncertain significance Single submitter
- TET2 p.Arg123Ser Uncertain significance Single submitter
-
TET2 p.Arg1261His
Uncertain significance
Single submitter
atypical chronic myeloid leukemia, BCR-ABL1 negative
- TET2 p.Arg1359His Uncertain significance Single submitter
- TET2 p.Arg13Ser Uncertain significance Single submitter
- TET2 p.Arg1440Gln Uncertain significance Single submitter
- TET2 p.Arg1498His Uncertain significance Single submitter
- TET2 p.Arg1498Leu Uncertain significance Single submitter
- TET2 p.Arg1498Pro Uncertain significance Single submitter
- TET2 p.Arg1572Pro Uncertain significance Single submitter
Predictors split 57
The independent predictors disagree with each other — read with care.
-
TET2 p.Arg1926His
Uncertain significance
Multiple submitters
immunodeficiency 75
- TET2 p.Met1028Ile Uncertain significance Multiple submitters
- TET2 p.Phe868Leu Benign/Likely benign Multiple submitters
- TET2 p.Ala1272Thr Uncertain significance Single submitter
- TET2 p.Ala1381Gly Uncertain significance Single submitter
- TET2 p.Ala1474Gly Uncertain significance Single submitter
- TET2 p.Ala1865Val Uncertain significance Single submitter
- TET2 p.Ala950Asp Uncertain significance Single submitter
- TET2 p.Arg1095Ser Uncertain significance Single submitter
- TET2 p.Arg1167Ser Uncertain significance Single submitter
- TET2 p.Arg1262Gln Uncertain significance Single submitter
- TET2 p.Arg1269Thr Uncertain significance Single submitter
- TET2 p.Arg1307Lys Uncertain significance Single submitter
- TET2 p.Arg1359Cys Uncertain significance Single submitter
- TET2 p.Arg1366Cys Uncertain significance Single submitter
- TET2 p.Arg1366Leu Uncertain significance Single submitter
- TET2 p.Arg1891Ser Uncertain significance Single submitter
- TET2 p.Asn1118Lys Uncertain significance Single submitter
- TET2 p.Asn1156Lys Uncertain significance Single submitter
- TET2 p.Asn91Ile Uncertain significance Single submitter
- TET2 p.Asp1121Ala Uncertain significance Single submitter
- TET2 p.Asp1129Ala Uncertain significance Single submitter
- TET2 p.Asp1849Glu Uncertain significance Single submitter
- TET2 p.Glu1318Asp Uncertain significance Single submitter
- TET2 p.Glu1851Lys Uncertain significance Single submitter
- TET2 p.Glu1931Lys Uncertain significance Single submitter
- TET2 p.Glu1931Val Uncertain significance Single submitter
- TET2 p.Gly210Arg Uncertain significance Single submitter
- TET2 p.Ile1226Thr Uncertain significance Single submitter
- TET2 p.Leu1385Ser Uncertain significance Single submitter
- TET2 p.Leu567Ser Uncertain significance Single submitter
- TET2 p.Lys1094Glu Uncertain significance Single submitter
- TET2 p.Lys1142Asn Uncertain significance Single submitter
- TET2 p.Lys1321Asn Uncertain significance Single submitter
- TET2 p.Met1456Ile Uncertain significance Single submitter
- TET2 p.Phe1854Ser Uncertain significance Single submitter
- TET2 p.Phe352Leu Uncertain significance Single submitter
- TET2 p.Phe381Leu Uncertain significance Single submitter
- TET2 p.Phe572Leu Uncertain significance Single submitter
- TET2 p.Pro1131Leu Uncertain significance Single submitter
- TET2 p.Ser1023Ile Uncertain significance Single submitter
- TET2 p.Ser1059Pro Uncertain significance Single submitter
- TET2 p.Ser1203Arg Uncertain significance Single submitter
- TET2 p.Ser1284Ala Uncertain significance Single submitter
- TET2 p.Ser1848Ala Uncertain significance Single submitter
- TET2 p.Ser268Trp Uncertain significance Single submitter
- TET2 p.Ser99Arg Uncertain significance Single submitter
- TET2 p.Thr1066Ile Uncertain significance Single submitter
- TET2 p.Thr1091Ala Uncertain significance Single submitter
- TET2 p.Thr1126Ile Uncertain significance Single submitter
- TET2 p.Thr1980Ile Uncertain significance Single submitter
- TET2 p.Trp1003Arg Uncertain significance Single submitter
- TET2 p.Trp1003Cys Uncertain significance Single submitter
- TET2 p.Trp564Cys Uncertain significance Single submitter
- TET2 p.Tyr1128Cys Uncertain significance Single submitter
- TET2 p.Val1064Asp Uncertain significance Single submitter
- TET2 p.Val1136Glu Uncertain significance Single submitter
All TET2 variants
Pathogenic 149
- p.Ala1174fs Single submitter
- p.Ala1196fs Single submitter
- p.Ala1341fs Single submitter
- p.Ala827fs Single submitter
- p.Ala893fs Single submitter
- p.Ala950fs Single submitter
- p.Arg1161fs Single submitter
- p.Arg1216Ter Single submitter
- p.Arg123fs Single submitter
- p.Arg1354fs Single submitter
- p.Arg1404Ter Single submitter
- p.Arg1455fs Single submitter
- p.Arg1465Ter Single submitter
- p.Arg550Ter Single submitter
- p.Arg881fs Single submitter
- p.Arg902fs Single submitter
- p.Asn275fs Single submitter
- p.Asn281delinsLeuTer Single submitter
- p.Asn801fs Single submitter
- p.Asp1314fs Single submitter
- p.Asp1402fs Single submitter
- p.Asp1425fs Single submitter
- p.Asp162fs Single submitter
- p.Cys1271fs Single submitter
- p.Cys1298fs Single submitter angioimmunoblastic T-cell lymphoma
- p.Cys1378fs Single submitter
- p.Cys353_Ser354insTer Single submitter
- p.Cys677fs Single submitter myelodysplastic syndrome
- p.Cys834fs Single submitter
- p.Cys882Ter Single submitter
- p.Gln1009fs Single submitter
- p.Gln1020fs Single submitter
- p.Gln1021Ter Single submitter
- p.Gln1030Ter Single submitter
- p.Gln1051Ter Single submitter
- p.Gln1053fs Single submitter
- p.Gln1068Ter Single submitter
- p.Gln1083Ter Single submitter
- p.Gln1084Ter Single submitter
- p.Gln116fs Single submitter
- p.Gln116Ter Single submitter
- p.Gln185Ter Single submitter
- p.Gln278Ter Single submitter
- p.Gln317fs Single submitter
- p.Gln317Ter Single submitter
- p.Gln321fs Single submitter
- p.Gln417Ter Single submitter
- p.Gln526Ter Single submitter
- p.Gln574Ter Single submitter
- p.Gln644Ter Single submitter
- p.Gln652Ter Single submitter
- p.Gln654fs Single submitter
- p.Gln674Ter Single submitter
- p.Gln726fs Single submitter
- p.Gln726Ter Single submitter
- p.Gln729Ter Single submitter
- p.Gln742Ter Single submitter
- p.Gln764fs Single submitter
- p.Gln810Ter Single submitter
- p.Gln866Ter Single submitter
- p.Gln891fs Single submitter
- p.Gln897Ter Single submitter
- p.Gln943fs Single submitter
- p.Gln962Ter Single submitter
- p.Glu1106fs Single submitter
- p.Glu1166Ter Single submitter
- p.Glu1250fs Single submitter
- p.Glu1320fs Single submitter
- p.Glu1352fs Single submitter
- p.Glu1477Ter Single submitter
- p.Glu478delinsAspAlaPheTer Single submitter
- p.Glu783fs Single submitter
- p.Gly1256fs Single submitter
- p.Gly1256Ter Single submitter immunodeficiency 75
- p.Gly1442fs Single submitter
- p.Gly378fs Single submitter
- p.Gly422Ter Single submitter
- p.His1382fs Single submitter
- p.His578delinsGlyLeuAsnTer Single submitter
- p.His839_Leu840insTer Single submitter immunodeficiency 75
- p.His850fs Single submitter
- p.His994fs Single submitter
- p.Ile1139fs Single submitter
- p.Ile1226fs Single submitter clonal hematopoiesis
- p.Ile1444fs Single submitter
- p.Ile252fs Single submitter
- p.Ile750fs Single submitter
- p.Leu1231fs Single submitter
- p.Leu446Ter Single submitter
- p.Leu567fs Single submitter
- p.Leu596fs Single submitter
- p.Leu920fs Single submitter
- p.Lys1049fs Single submitter
- p.Lys1197Glu Single submitter
- p.Lys1299Ter Single submitter
- p.Lys1308fs Single submitter
- p.Lys1409fs Single submitter
- p.Lys287fs Single submitter
- p.Lys306fs Single submitter
- p.Lys389fs Single submitter
- p.Lys693fs Single submitter
- p.Met1333fs Single submitter
- p.Phe1168fs Single submitter
- p.Phe854fs Single submitter
- p.Pro101fs Single submitter
- p.Pro739fs Single submitter
- p.Pro761fs Single submitter
- p.Pro989fs Single submitter
- p.Ser1050Ter Single submitter
- p.Ser1246fs Single submitter
- p.Ser1431fs Single submitter
- p.Ser214fs Single submitter
- p.Ser280fs Single submitter
- p.Ser354Ter Single submitter
- p.Ser441fs Single submitter
- p.Ser714Ter Single submitter
- p.Ser82fs Single submitter
- p.Ser842Ter Single submitter
- p.Ser907fs Single submitter
- p.Ser99fs Single submitter
- p.Thr279fs Single submitter
- p.Thr343fs Single submitter
- p.Thr505fs Single submitter
- p.Thr679fs Single submitter
- p.Thr848fs Single submitter
- p.Thr970fs Single submitter
- p.Tyr1255Ter Single submitter angioimmunoblastic T-cell lymphoma
- p.Tyr1337Ter Single submitter
- p.Tyr620Ter Single submitter
- p.Tyr899Ter Single submitter
- p.Val1062fs Single submitter
- p.Val151fs Single submitter
- p.Val430fs Single submitter
- p.Val781fs Single submitter
- p.Val98fs Single submitter
- c.3954+5G>A No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Gln114Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Gln1191Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Gln743Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Gln744fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Leu1721fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Lys1188Ter No assertion criteria third-degree atrioventricular block
- p.Lys603fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Pro1306fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Ser1798Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Ser509Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Tyr192Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Tyr620fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Val151_Ser152insTer No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Pathogenic/Likely pathogenic 2
- p.Arg544Ter Multiple submitters
- p.Gln622Ter Multiple submitters
Likely pathogenic 22
- c.3409+1G>A Single submitter
- c.3500+2del Single submitter
- c.3594+1G>A Single submitter
- c.3594+1G>C Single submitter
- c.3594+1G>T Single submitter
- c.3936_3954+153del Single submitter
- c.3955-2A>G Single submitter myelodysplastic syndrome
- c.4045-2A>C Single submitter
- c.4183-1G>C Single submitter
- p.Asn374fs Single submitter
- p.Cys784fs Single submitter
- p.Gln1034Ter Single submitter
- p.Gln530Ter Single submitter
- p.Gln758fs Single submitter
- p.Gln891Ter Single submitter
- p.His266fs Single submitter myelodysplastic syndrome
- p.Leu1032fs Single submitter
- p.Leu1515fs Single submitter TET2-related disorder
- p.Ser774Ter Single submitter
- p.Thr1259fs Single submitter
- p.Thr730fs Single submitter immunodeficiency 75
- c.3804-2A>C No assertion criteria myelodysplastic syndrome
Conflicting classifications of pathogenicity 11
- c.3409+15T>A Single submitter TET2-related disorder
- c.3409+18A>G Single submitter
- p.Arg1452Ter Single submitter
- p.Gln642Ter Single submitter
- p.Gln810Arg Single submitter ⚠
- p.Gln916Ter Single submitter myelodysplastic syndrome
- p.Ile1195Val Single submitter ⚠
- p.Lys630Arg Single submitter ⚠
- p.Pro174His Single submitter ⚠
- p.Thr229fs Single submitter immunodeficiency 75
- p.Thr970Ser Single submitter ⚠
Benign 26
- c.3595-4G>A Multiple submitters
- c.-46-63ATAG[4] Multiple submitters
- p.Gln1030= Multiple submitters
- p.Glu628= Multiple submitters
- p.Gly355Asp Multiple submitters
- p.His1380= Multiple submitters
- p.His1778Arg Multiple submitters
- p.His924Arg Multiple submitters
- p.Ile1762Val Multiple submitters
- p.Leu1721Trp Multiple submitters
- p.Leu34Phe Multiple submitters
- p.Pro1723Ser Multiple submitters
- p.Pro29Arg Multiple submitters
- p.Pro363Leu Multiple submitters
- p.Ser1039= Multiple submitters
- p.Tyr867His Multiple submitters
- p.Val218Met Multiple submitters
- c.3409+1136T>A Single submitter
- c.3594+200T>G Single submitter
- c.3804-4dup Single submitter
- c.4538-113C>T Single submitter
- c.*329_*330dup Single submitter
- p.Arg814Cys Single submitter
- p.Asn1784= Single submitter
- p.His1817Asn Single submitter
- p.Pro465= Single submitter
Benign/Likely benign 12
- c.4182+9G>A Multiple submitters
- p.Arg13= Multiple submitters
- p.Asn202= Multiple submitters
- p.Gln1084Pro Multiple submitters
- p.Gln324= Multiple submitters
- p.Met1701Ile Multiple submitters
- p.Phe868Leu Multiple submitters ⚠
- p.Ser1039Leu Multiple submitters
- p.Ser145Asn Multiple submitters
- p.Ser1686= Multiple submitters
- p.Ser795= Multiple submitters
- p.Val1718Leu Multiple submitters
Likely benign 573
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala277= Multiple submitters
- p.Ala347= Multiple submitters
- p.Ala575= Multiple submitters
- p.Ala619= Multiple submitters
- p.Ala687= Multiple submitters
- p.Ala727= Multiple submitters
- p.Ala912= Multiple submitters
- p.Ala996= Multiple submitters
- p.Arg5= Multiple submitters
- p.Arg979= Multiple submitters
- p.Asn124= Multiple submitters
- p.Asn1504= Multiple submitters
- p.Asn312= Multiple submitters
- p.Asn442= Multiple submitters
- p.Asn741= Multiple submitters
- p.Asp1129= Multiple submitters
- p.Cys1133= Multiple submitters
- p.Cys828= Multiple submitters
- p.Gln1068= Multiple submitters
- p.Gln1127= Multiple submitters
- p.Gln156= Multiple submitters
- p.Gln1828= Multiple submitters
- p.Gln232= Multiple submitters
- p.Gln3= Multiple submitters
- p.Gln325= Multiple submitters
- p.Gln530= Multiple submitters
- p.Gln599= Multiple submitters
- p.Gln618= Multiple submitters
- p.Gln746= Multiple submitters
- p.Gln790= Multiple submitters
- p.Gln967= Multiple submitters
- p.Gln969= Multiple submitters
- p.Glu227= Multiple submitters
- p.Glu259= Multiple submitters
- p.Glu524= Multiple submitters
- p.Glu709= Multiple submitters
- p.Glu807= Multiple submitters
- p.Gly1275= Multiple submitters
- p.Gly773= Multiple submitters
- p.Gly908= Multiple submitters
- p.His1036= Multiple submitters
- p.His193= Multiple submitters
- p.His468= Multiple submitters
- p.His762= Multiple submitters
- p.His994= Multiple submitters
- p.Ile1025= Multiple submitters
- p.Ile240= Multiple submitters
- p.Ile264= Multiple submitters
- p.Leu103= Multiple submitters
- p.Leu182= Multiple submitters
- p.Leu307= Multiple submitters
- p.Leu532= Multiple submitters
- p.Leu541= Multiple submitters
- p.Leu586= Multiple submitters
- p.Lys326= Multiple submitters
- p.Lys630= Multiple submitters
- p.Lys780= Multiple submitters
- p.Lys889= Multiple submitters
- p.Phe125= Multiple submitters
- p.Phe57= Multiple submitters
- p.Phe797= Multiple submitters
- p.Pro1237= Multiple submitters
- p.Pro1655= Multiple submitters
- p.Pro1742= Multiple submitters
- p.Pro20= Multiple submitters
- p.Pro286= Multiple submitters
- p.Pro400= Multiple submitters
- p.Pro474= Multiple submitters
- p.Pro499= Multiple submitters
- p.Pro517= Multiple submitters
- p.Pro587= Multiple submitters
- p.Pro616= Multiple submitters
- p.Pro989= Multiple submitters
- p.Ser142= Multiple submitters
- p.Ser217= Multiple submitters
- p.Ser268= Multiple submitters
- p.Ser293= Multiple submitters
- p.Ser348= Multiple submitters
- p.Ser358= Multiple submitters
- p.Ser385= Multiple submitters
- p.Ser462= Multiple submitters
- p.Ser466= Multiple submitters
- p.Ser733= Multiple submitters
- p.Ser835= Multiple submitters
- p.Ser842= Multiple submitters
- p.Thr1600= Multiple submitters
- p.Thr279= Multiple submitters
- p.Thr444= Multiple submitters
- p.Thr838= Multiple submitters
- p.Tyr60= Multiple submitters
- p.Val1054= Multiple submitters
- p.Val485= Multiple submitters
- p.Val983= Multiple submitters
- p.Leu18= Single submitter
- p.Val1054= Single submitter
- p.Thr1070= Single submitter
- c.3409+37A>C Single submitter
- c.3409+7G>A Single submitter
- c.3500+11C>T Single submitter
- c.3500+12A>C Single submitter
- c.3500+18A>G Single submitter
- c.3501-6T>G Single submitter
- c.3594+13T>A Single submitter
- c.3595-13G>A Single submitter
- c.3595-5C>T Single submitter
- c.3595-7C>G Single submitter
- c.3595-8C>A Single submitter
- c.3803+19C>G Single submitter
- c.3804-12T>C Single submitter
- c.3954+16dup Single submitter
- c.3954+19G>A Single submitter
- c.3955-11A>G Single submitter
- c.3955-16T>C Single submitter
- c.3955-6A>G Single submitter
- c.3955-8_3955-7del Single submitter
- c.4044+11A>G Single submitter
- c.4045-15A>G Single submitter
- c.4182+10G>A Single submitter
- c.4183-19T>C Single submitter
- c.4538-13A>T Single submitter
- p.Ala1037= Single submitter
- p.Ala1045= Single submitter
- p.Ala1159= Single submitter
- p.Ala1283= Single submitter
- p.Ala1341= Single submitter
- p.Ala1863= Single submitter
- p.Ala190= Single submitter
- p.Ala1915= Single submitter
- p.Ala1972= Single submitter
- p.Ala204= Single submitter
- p.Ala211= Single submitter
- p.Ala215= Single submitter
- p.Ala256= Single submitter
- p.Ala289= Single submitter
- p.Ala290= Single submitter
- p.Ala298= Single submitter
- p.Ala304= Single submitter
- p.Ala309= Single submitter
- p.Ala379= Single submitter
- p.Ala394= Single submitter
- p.Ala569= Single submitter
- p.Ala584= Single submitter
- p.Ala671= Single submitter
- p.Ala707= Single submitter
- p.Ala827= Single submitter
- p.Ala911Asp Single submitter
- p.Ala915= Single submitter
- p.Ala925= Single submitter
- p.Ala951= Single submitter
- p.Ala991= Single submitter
- p.Arg1067= Single submitter
- p.Arg1262= Single submitter
- p.Arg1359= Single submitter
- p.Arg1452= Single submitter
- p.Arg1516= Single submitter
- p.Arg1926= Single submitter
- p.Arg1951= Single submitter
- p.Arg1966= Single submitter
- p.Arg1993= Single submitter
- p.Arg369= Single submitter
- p.Arg447= Single submitter
- p.Arg479= Single submitter
- p.Arg506= Single submitter
- p.Arg534= Single submitter
- p.Arg534Gly Single submitter
- p.Arg544Gln Single submitter
- p.Arg550= Single submitter
- p.Arg617= Single submitter
- p.Arg680= Single submitter
- p.Arg815= Single submitter
- p.Arg96= Single submitter
- p.Asn1018= Single submitter
- p.Asn1118= Single submitter
- p.Asn119= Single submitter
- p.Asn12= Single submitter
- p.Asn1266= Single submitter
- p.Asn132= Single submitter
- p.Asn158= Single submitter
- p.Asn1623= Single submitter
- p.Asn1636= Single submitter
- p.Asn1685= Single submitter
- p.Asn1714= Single submitter
- p.Asn1753= Single submitter
- p.Asn176= Single submitter
- p.Asn1787= Single submitter
- p.Asn1843= Single submitter
- p.Asn1890= Single submitter
- p.Asn209= Single submitter
- p.Asn250His Single submitter
- p.Asn281= Single submitter
- p.Asn483= Single submitter
- p.Asn582= Single submitter
- p.Asn7= Single submitter
- p.Asn71= Single submitter
- p.Asn767= Single submitter
- p.Asn767Asp Single submitter
- p.Asn801= Single submitter
- p.Asn813= Single submitter
- p.Asn871= Single submitter
- p.Asn901= Single submitter
- p.Asn903= Single submitter
- p.Asn91= Single submitter
- p.Asp1042= Single submitter
- p.Asp1425= Single submitter
- p.Asp1587= Single submitter
- p.Asp162= Single submitter
- p.Asp302= Single submitter
- p.Asp527= Single submitter
- p.Asp551= Single submitter
- p.Asp648= Single submitter
- p.Asp666= Single submitter
- p.Asp877= Single submitter
- p.Cys1135= Single submitter
- p.Cys1271= Single submitter
- p.Cys1396= Single submitter
- p.Cys882= Single submitter
- p.Gln116= Single submitter
- p.Gln129= Single submitter
- p.Gln138= Single submitter
- p.Gln1702= Single submitter
- p.Gln180= Single submitter
- p.Gln323= Single submitter
- p.Gln361= Single submitter
- p.Gln403= Single submitter
- p.Gln461= Single submitter
- p.Gln491Arg Single submitter
- p.Gln548= Single submitter
- p.Gln574= Single submitter
- p.Gln591= Single submitter
- p.Gln604= Single submitter
- p.Gln632= Single submitter
- p.Gln654= Single submitter
- p.Gln674= Single submitter
- p.Gln684= Single submitter
- p.Gln701= Single submitter
- p.Gln731= Single submitter
- p.Gln744= Single submitter
- p.Gln745= Single submitter
- p.Gln764= Single submitter
- p.Gln80= Single submitter
- p.Gln803= Single submitter
- p.Gln810= Single submitter
- p.Gln831= Single submitter
- p.Gln866= Single submitter
- p.Gln876= Single submitter
- p.Gln90= Single submitter
- p.Gln917= Single submitter
- p.Gln933= Single submitter
- p.Gln963= Single submitter
- p.Gln976= Single submitter
- p.Glu10= Single submitter
- p.Glu100= Single submitter
- p.Glu1082= Single submitter
- p.Glu1137= Single submitter
- p.Glu1144= Single submitter
- p.Glu1166= Single submitter
- p.Glu1786= Single submitter
- p.Glu186= Single submitter
- p.Glu1909= Single submitter
- p.Glu1961= Single submitter
- p.Glu219= Single submitter
- p.Glu224= Single submitter
- p.Glu368= Single submitter
- p.Glu42= Single submitter
- p.Glu537= Single submitter
- p.Glu711= Single submitter
- p.Glu754= Single submitter
- p.Glu843= Single submitter
- p.Glu887= Single submitter
- p.Glu961= Single submitter
- p.Gly1154= Single submitter
- p.Gly1288= Single submitter
- p.Gly1430= Single submitter
- p.Gly1590= Single submitter
- p.Gly173= Single submitter
- p.Gly1815= Single submitter
- p.Gly1835= Single submitter
- p.Gly187= Single submitter
- p.Gly223= Single submitter
- p.Gly364= Single submitter
- p.Gly365= Single submitter
- p.Gly37= Single submitter
- p.Gly494= Single submitter
- p.Gly543= Single submitter
- p.Gly563= Single submitter
- p.Gly607= Single submitter
- p.Gly613= Single submitter
- p.Gly614= Single submitter
- p.Gly641= Single submitter
- p.Gly805= Single submitter
- p.Gly856= Single submitter
- p.Gly898= Single submitter
- p.Gly93= Single submitter
- p.Gly934= Single submitter
- p.Gly935= Single submitter
- p.His1031= Single submitter
- p.His1077= Single submitter
- p.His1150= Single submitter
- p.His1416= Single submitter
- p.His169= Single submitter
Uncertain significance 1212
Showing the top 300 by review status; the full set is in the sitemap.
- c.3409+42G>T Multiple submitters myelodysplastic syndrome
- p.Ala1072Pro Multiple submitters ⚠
- p.Ala1158Val Multiple submitters
- p.Ala1769Pro Multiple submitters immunodeficiency 75 ⚠
- p.Ala277Thr Multiple submitters ⚠
- p.Arg1095Lys Multiple submitters immunodeficiency 75 ⚠
- p.Arg1134Thr Multiple submitters ⚠
- p.Arg1572Gln Multiple submitters ⚠
- p.Arg1926His Multiple submitters immunodeficiency 75 ⚠
- p.Arg369Trp Multiple submitters ⚠
- p.Arg571His Multiple submitters immunodeficiency 75 ⚠
- p.Arg73Cys Multiple submitters ⚠
- p.Arg814His Multiple submitters ⚠
- p.Asn140Asp Multiple submitters ⚠
- p.Asn1636Lys Multiple submitters ⚠
- p.Asn176Lys Multiple submitters ⚠
- p.Asn258Ser Multiple submitters ⚠
- p.Asn275Lys Multiple submitters ⚠
- p.Asn610Ser Multiple submitters immunodeficiency 75 ⚠
- p.Asn837Ser Multiple submitters ⚠
- p.Asn926Thr Multiple submitters ⚠
- p.Asp688Val Multiple submitters ⚠
- p.Asp877Glu Multiple submitters ⚠
- p.Asp877Gly Multiple submitters ⚠
- p.Cys1263Tyr Multiple submitters ⚠
- p.Cys237Tyr Multiple submitters ⚠
- p.Cys25Phe Multiple submitters ⚠
- p.Gln1783Ter Multiple submitters
- p.Gln635Arg Multiple submitters ⚠
- p.Gln674Arg Multiple submitters ⚠
- p.Gln743His Multiple submitters ⚠
- p.Glu135Gly Multiple submitters ⚠
- p.Glu783Gly Multiple submitters ⚠
- p.Glu81Val Multiple submitters ⚠
- p.Gly378Arg Multiple submitters ⚠
- p.Gly429Arg Multiple submitters immunodeficiency 75 ⚠
- p.His1380Tyr Multiple submitters myelodysplastic syndrome ⚠
- p.His1382Arg Multiple submitters angioimmunoblastic T-cell lymphoma ⚠
- p.His248Gln Multiple submitters ⚠
- p.His578Arg Multiple submitters ⚠
- p.His658Tyr Multiple submitters ⚠
- p.His880Arg Multiple submitters ⚠
- p.His994Tyr Multiple submitters ⚠
- p.Ile1762Leu Multiple submitters ⚠
- p.Ile1871Val Multiple submitters ⚠
- p.Ile340Thr Multiple submitters ⚠
- p.Ile873Leu Multiple submitters ⚠
- p.Ile981Val Multiple submitters ⚠
- p.Leu1032Val Multiple submitters ⚠
- p.Leu1048Val Multiple submitters ⚠
- p.Leu307Arg Multiple submitters immunodeficiency 75 ⚠
- p.Leu30Pro Multiple submitters ⚠
- p.Leu445Phe Multiple submitters ⚠
- p.Leu446Ser Multiple submitters ⚠
- p.Leu694Phe Multiple submitters ⚠
- p.Lys1004Ile Multiple submitters ⚠
- p.Lys1055Glu Multiple submitters ⚠
- p.Lys1110Gln Multiple submitters ⚠
- p.Lys188Arg Multiple submitters ⚠
- p.Lys423Arg Multiple submitters myelodysplastic syndrome ⚠
- p.Met1028Ile Multiple submitters ⚠
- p.Met1058Val Multiple submitters ⚠
- p.Met695Thr Multiple submitters ⚠
- p.Met804Leu Multiple submitters ⚠
- p.Met906Arg Multiple submitters ⚠
- p.Phe928Ser Multiple submitters ⚠
- p.Pro101Thr Multiple submitters ⚠
- p.Pro1535Ser Multiple submitters ⚠
- p.Pro1713Ser Multiple submitters ⚠
- p.Pro1962Leu Multiple submitters ⚠
- p.Pro39Leu Multiple submitters ⚠
- p.Pro761Leu Multiple submitters ⚠
- p.Pro931Ala Multiple submitters ⚠
- p.Ser1015Gly Multiple submitters ⚠
- p.Ser1109Phe Multiple submitters ⚠
- p.Ser1246Leu Multiple submitters TET2-related disorder ⚠
- p.Ser1577Arg Multiple submitters ⚠
- p.Ser261Phe Multiple submitters ⚠
- p.Thr1086Ser Multiple submitters ⚠
- p.Thr221Ile Multiple submitters ⚠
- p.Thr27Arg Multiple submitters ⚠
- p.Thr444Ile Multiple submitters ⚠
- p.Thr497Ser Multiple submitters ⚠
- p.Thr625Ala Multiple submitters ⚠
- p.Thr759Pro Multiple submitters ⚠
- p.Thr995Ile Multiple submitters ⚠
- p.Tyr1649Cys Multiple submitters TET2-related disorder ⚠
- p.Val1426Met Multiple submitters ⚠
- p.Val1432Met Multiple submitters ⚠
- p.Val160Ile Multiple submitters ⚠
- p.Val485Leu Multiple submitters ⚠
- c.3409+39C>T Single submitter immunodeficiency 75
- c.3409+4dup Single submitter
- c.3500+6T>G Single submitter
- c.3501-13G>A Single submitter
- c.3594+5G>A Single submitter
- c.3954+3T>G Single submitter
- c.3955-3_3955-2insGTAT Single submitter
- c.4045-3_4102dup Single submitter
- c.4182+4A>G Single submitter
- c.4538-3C>G Single submitter
- c.4538-9T>A Single submitter
- c.-193+2_-193+5dup Single submitter
- p.297DAD[1] Single submitter
- p.Ala1014Ser Single submitter ⚠
- p.Ala1037Ser Single submitter ⚠
- p.Ala1037Thr Single submitter ⚠
- p.Ala1045Ser Single submitter ⚠
- p.Ala1045Val Single submitter ⚠
- p.Ala1072Glu Single submitter ⚠
- p.Ala1072Thr Single submitter ⚠
- p.Ala1072Val Single submitter ⚠
- p.Ala1080Val Single submitter ⚠
- p.Ala1097Pro Single submitter ⚠
- p.Ala1158Thr Single submitter ⚠
- p.Ala118Gly Single submitter ⚠
- p.Ala1272Thr Single submitter ⚠
- p.Ala1381Gly Single submitter ⚠
- p.Ala1443Val Single submitter ⚠
- p.Ala1474Gly Single submitter ⚠
- p.Ala1505Thr Single submitter ⚠
- p.Ala1508fs Single submitter TET2-related disorder
- p.Ala155Val Single submitter ⚠
- p.Ala1768_Ala1769insThrSerTrpGluProProLeuAspTyrHisProIleTer Single submitter
- p.Ala1837Gly Single submitter ⚠
- p.Ala1865Val Single submitter ⚠
- p.Ala190Val Single submitter ⚠
- p.Ala204Glu Single submitter ⚠
- p.Ala204Ser Single submitter ⚠
- p.Ala204Thr Single submitter ⚠
- p.Ala215Pro Single submitter ⚠
- p.Ala241= Single submitter
- p.Ala251Val Single submitter ⚠
- p.Ala256Gly Single submitter ⚠
- p.Ala289Thr Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala308Gly Single submitter ⚠
- p.Ala309Thr Single submitter ⚠
- p.Ala379Thr Single submitter ⚠
- p.Ala569Asp Single submitter ⚠
- p.Ala569Pro Single submitter ⚠
- p.Ala569Ser Single submitter ⚠
- p.Ala569Thr Single submitter ⚠
- p.Ala575Val Single submitter ⚠
- p.Ala619Gly Single submitter ⚠
- p.Ala671Thr Single submitter ⚠
- p.Ala687Val Single submitter ⚠
- p.Ala707Thr Single submitter ⚠
- p.Ala727Ser Single submitter ⚠
- p.Ala728Thr Single submitter ⚠
- p.Ala911Gly Single submitter ⚠
- p.Ala911Thr Single submitter ⚠
- p.Ala950Asp Single submitter ⚠
- p.Ala951Val Single submitter ⚠
- p.Ala991Ser Single submitter ⚠
- p.Ala996Val Single submitter ⚠
- p.Arg1095Ser Single submitter ⚠
- p.Arg1134Ser Single submitter ⚠
- p.Arg1167Gly Single submitter ⚠
- p.Arg1167Ser Single submitter ⚠
- p.Arg1167Trp Single submitter ⚠
- p.Arg1214Gln Single submitter ⚠
- p.Arg122Ile Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg123Gly Single submitter ⚠
- p.Arg123His Single submitter TET2-related disorder ⚠
- p.Arg123Leu Single submitter ⚠
- p.Arg123Pro Single submitter ⚠
- p.Arg123Ser Single submitter ⚠
- p.Arg1261His Single submitter atypical chronic myeloid leukemia, BCR-ABL1 negative ⚠
- p.Arg1262Gln Single submitter ⚠
- p.Arg1269Thr Single submitter ⚠
- p.Arg1307Lys Single submitter ⚠
- p.Arg1359Cys Single submitter ⚠
- p.Arg1359His Single submitter ⚠
- p.Arg1366Cys Single submitter ⚠
- p.Arg1366Leu Single submitter ⚠
- p.Arg13Ser Single submitter ⚠
- p.Arg1440fs Single submitter
- p.Arg1440Gln Single submitter ⚠
- p.Arg1498His Single submitter ⚠
- p.Arg1498Leu Single submitter ⚠
- p.Arg1498Pro Single submitter ⚠
- p.Arg1516Ter Single submitter
- p.Arg1543_Gln1548del Single submitter
- p.Arg1572Pro Single submitter ⚠
- p.Arg1572Trp Single submitter ⚠
- p.Arg1682Lys Single submitter ⚠
- p.Arg1891Ser Single submitter ⚠
- p.Arg1896Ser Single submitter ⚠
- p.Arg1993Trp Single submitter ⚠
- p.Arg2000_Tyr2001insTer Single submitter
- p.Arg479Lys Single submitter ⚠
- p.Arg534Lys Single submitter ⚠
- p.Arg544Pro Single submitter ⚠
- p.Arg550Gln Single submitter ⚠
- p.Arg571Cys Single submitter ⚠
- p.Arg571Gly Single submitter ⚠
- p.Arg581Cys Single submitter ⚠
- p.Arg581His Single submitter ⚠
- p.Arg581Pro Single submitter ⚠
- p.Arg5Thr Single submitter ⚠
- p.Arg680Ile Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Arg73Leu Single submitter ⚠
- p.Arg881Lys Single submitter ⚠
- p.Arg881Ser Single submitter ⚠
- p.Arg918Lys Single submitter ⚠
- p.Arg96Cys Single submitter
- p.Arg96Leu Single submitter ⚠
- p.Arg979Gly Single submitter ⚠
- p.Asn1000Asp Single submitter ⚠
- p.Asn1018Ile Single submitter ⚠
- p.Asn1102Asp Single submitter ⚠
- p.Asn1102His Single submitter ⚠
- p.Asn1102Ser Single submitter ⚠
- p.Asn1103Ser Single submitter ⚠
- p.Asn1118Lys Single submitter ⚠
- p.Asn1156Lys Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Asn124Asp Single submitter ⚠
- p.Asn124Lys Single submitter ⚠
- p.Asn1260Ser Single submitter ⚠
- p.Asn12Ser Single submitter ⚠
- p.Asn132Ser Single submitter ⚠
- p.Asn1387Ser Single submitter ⚠
- p.Asn1489Lys Single submitter ⚠
- p.Asn1581Ile Single submitter ⚠
- p.Asn1698Lys Single submitter ⚠
- p.Asn1746fs Single submitter
- p.Asn176Ser Single submitter ⚠
- p.Asn1805Ter Single submitter
- p.Asn1805Tyr Single submitter ⚠
- p.Asn183Lys Single submitter ⚠
- p.Asn1843Lys Single submitter ⚠
- p.Asn1843Ser Single submitter ⚠
- p.Asn196Asp Single submitter ⚠
- p.Asn196Ser Single submitter ⚠
- p.Asn202Ser Single submitter ⚠
- p.Asn250Ser Single submitter ⚠
- p.Asn253Lys Single submitter ⚠
- p.Asn275His Single submitter ⚠
- p.Asn303Asp Single submitter ⚠
- p.Asn312Ile Single submitter ⚠
- p.Asn339Asp Single submitter ⚠
- p.Asn359Ile Single submitter ⚠
- p.Asn374Tyr Single submitter ⚠
- p.Asn377Tyr Single submitter ⚠
- p.Asn427Ser Single submitter ⚠
- p.Asn439His Single submitter ⚠
- p.Asn482Ser Single submitter ⚠
- p.Asn483Thr Single submitter ⚠
- p.Asn488Ser Single submitter ⚠
- p.Asn49Ile Single submitter ⚠
- p.Asn528Ser Single submitter ⚠
- p.Asn535Asp Single submitter ⚠
- p.Asn595Ser Single submitter ⚠
- p.Asn598His Single submitter ⚠
- p.Asn598Ser Single submitter ⚠
- p.Asn704Lys Single submitter ⚠
- p.Asn715Thr Single submitter ⚠
- p.Asn789Ser Single submitter ⚠
- p.Asn801Asp Single submitter ⚠
- p.Asn811Ile Single submitter ⚠
- p.Asn811Ser Single submitter ⚠
- p.Asn813Asp Single submitter ⚠
- p.Asn816Asp Single submitter squamous cell carcinoma ⚠
- p.Asn836Lys Single submitter ⚠
- p.Asn837Asp Single submitter ⚠
- p.Asn871His Single submitter ⚠
- p.Asn871Ser Single submitter ⚠
- p.Asn901Lys Single submitter ⚠
- p.Asn91Ile Single submitter ⚠
- p.Asn926Ile Single submitter ⚠
- p.Asp1017Glu Single submitter ⚠
- p.Asp1042Asn Single submitter ⚠
- p.Asp1075fs Single submitter
- p.Asp1075His Single submitter ⚠
- p.Asp1075Tyr Single submitter ⚠
- p.Asp1113Asn Single submitter ⚠
- p.Asp1113Tyr Single submitter ⚠
- p.Asp1121Ala Single submitter ⚠
- p.Asp1129Ala Single submitter ⚠
- p.Asp1384Asn Single submitter ⚠
- p.Asp1384Val Single submitter ⚠
- p.Asp143Glu Single submitter ⚠
- p.Asp146His Single submitter ⚠
- p.Asp1587Gly Single submitter ⚠
- p.Asp162Val Single submitter ⚠
- p.Asp1730Glu Single submitter ⚠
- p.Asp1849Glu Single submitter ⚠
- p.Asp236Gly Single submitter ⚠
- p.Asp297Tyr Single submitter ⚠
- p.Asp299Val Single submitter ⚠
- p.Asp300Val Single submitter ⚠
- p.Asp302Gly Single submitter ⚠
- p.Asp390Tyr Single submitter ⚠
- p.Asp4Tyr Single submitter ⚠
- p.Asp545Gly Single submitter ⚠