TET1 — 256 ClinVar variants
All ClinVar germline TET1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →
15 Benign · 1 Benign/Likely benign · 30 Likely benign · 210 Uncertain significance
Full TET1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 205
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 192
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 192
- TET1 p.Glu1906Lys Uncertain significance Multiple submitters
- TET1 p.Ala1276Thr Uncertain significance Single submitter
- TET1 p.Ala1314Thr Uncertain significance Single submitter
- TET1 p.Ala1837Thr Uncertain significance Single submitter
- TET1 p.Ala1866Pro Uncertain significance Single submitter
- TET1 p.Ala2014Gly Uncertain significance Single submitter
- TET1 p.Ala210Val Uncertain significance Single submitter
- TET1 p.Ala244Gly Uncertain significance Single submitter
- TET1 p.Ala341Val Uncertain significance Single submitter
- TET1 p.Ala348Gly Uncertain significance Single submitter
- TET1 p.Ala733Thr Uncertain significance Single submitter
- TET1 p.Ala733Val Uncertain significance Single submitter
- TET1 p.Ala7Val Uncertain significance Single submitter
- TET1 p.Ala924Pro Uncertain significance Single submitter
- TET1 p.Ala989Thr Uncertain significance Single submitter
- TET1 p.Arg1158Gln Uncertain significance Single submitter
- TET1 p.Arg1159Trp Uncertain significance Single submitter
- TET1 p.Arg1173Leu Uncertain significance Single submitter
- TET1 p.Arg1887Gly Uncertain significance Single submitter
- TET1 p.Arg2038His Uncertain significance Single submitter
- TET1 p.Arg5His Uncertain significance Single submitter
- TET1 p.Arg86Lys Uncertain significance Single submitter
- TET1 p.Asn1111Lys Uncertain significance Single submitter
- TET1 p.Asn1273Ser Uncertain significance Single submitter
- TET1 p.Asn1293Tyr Uncertain significance Single submitter
- TET1 p.Asn1396His Uncertain significance Single submitter
- TET1 p.Asn2039Ser Uncertain significance Single submitter
- TET1 p.Asn35Asp Uncertain significance Single submitter
- TET1 p.Asn482His Uncertain significance Single submitter
- TET1 p.Asn971Ser Uncertain significance Single submitter
- TET1 p.Asn987Lys Uncertain significance Single submitter
- TET1 p.Asp139Asn Uncertain significance Single submitter
- TET1 p.Asp1614Gly Uncertain significance Single submitter
- TET1 p.Asp168Gly Uncertain significance Single submitter
- TET1 p.Asp1951Val Uncertain significance Single submitter
- TET1 p.Asp428Glu Uncertain significance Single submitter
- TET1 p.Asp57Glu Uncertain significance Single submitter
- TET1 p.Asp85Asn Uncertain significance Single submitter
- TET1 p.Asp916Tyr Uncertain significance Single submitter
- TET1 p.Cys1031Arg Uncertain significance Single submitter
- TET1 p.Cys140Arg Uncertain significance Single submitter
- TET1 p.Cys140Tyr Uncertain significance Single submitter
- TET1 p.Cys677Ser Uncertain significance Single submitter
- TET1 p.Cys677Tyr Uncertain significance Single submitter
- TET1 p.Gln1200Arg Uncertain significance Single submitter
- TET1 p.Gln1328Lys Uncertain significance Single submitter
- TET1 p.Gln1636Glu Uncertain significance Single submitter
- TET1 p.Gln1809Lys Uncertain significance Single submitter
- TET1 p.Gln263Arg Uncertain significance Single submitter
- TET1 p.Gln513Arg Uncertain significance Single submitter
- TET1 p.Glu1096Ala Uncertain significance Single submitter
- TET1 p.Glu1170Gln Uncertain significance Single submitter
- TET1 p.Glu1177Gln Uncertain significance Single submitter
- TET1 p.Glu1384Gly Uncertain significance Single submitter
- TET1 p.Glu1723Gln Uncertain significance Single submitter
- TET1 p.Glu1774Gln Uncertain significance Single submitter
- TET1 p.Glu1985Gln Uncertain significance Single submitter
- TET1 p.Glu2100Val Uncertain significance Single submitter
- TET1 p.Glu740Gly Uncertain significance Single submitter
- TET1 p.Glu780Gln Uncertain significance Single submitter
- TET1 p.Glu852Lys Uncertain significance Single submitter
- TET1 p.Glu920Ala Uncertain significance Single submitter
- TET1 p.Glu920Asp Uncertain significance Single submitter
- TET1 p.Gly1121Cys Uncertain significance Single submitter
- TET1 p.Gly1274Glu Uncertain significance Single submitter
- TET1 p.Gly1362Asp Uncertain significance Single submitter
- TET1 p.Gly1697Ala Uncertain significance Single submitter
- TET1 p.Gly1755Val Uncertain significance Single submitter
- TET1 p.Gly1871Arg Uncertain significance Single submitter
- TET1 p.Gly1905Asp Uncertain significance Single submitter
- TET1 p.Gly1929Cys Uncertain significance Single submitter
- TET1 p.Gly400Arg Uncertain significance Single submitter
- TET1 p.Gly537Ser Uncertain significance Single submitter
- TET1 p.Gly678Asp Uncertain significance Single submitter
- TET1 p.Gly680Trp Uncertain significance Single submitter
- TET1 p.Gly783Ser Uncertain significance Single submitter
- TET1 p.His1204Arg Uncertain significance Single submitter
- TET1 p.His1941Tyr Uncertain significance Single submitter
- TET1 p.His2035Gln Uncertain significance Single submitter
- TET1 p.His6Tyr Uncertain significance Single submitter
- TET1 p.His721Leu Uncertain significance Single submitter
- TET1 p.His764Tyr Uncertain significance Single submitter
- TET1 p.His840Arg Uncertain significance Single submitter
- TET1 p.Ile1021Thr Uncertain significance Single submitter
- TET1 p.Ile1073Thr Uncertain significance Single submitter
- TET1 p.Ile2066Met Uncertain significance Single submitter
- TET1 p.Ile440Thr Uncertain significance Single submitter
- TET1 p.Ile862Met Uncertain significance Single submitter
- TET1 p.Leu1263Pro Uncertain significance Single submitter
- TET1 p.Leu1337Met Uncertain significance Single submitter
- TET1 p.Leu1921Arg Uncertain significance Single submitter
- TET1 p.Leu315Ser Uncertain significance Single submitter
- TET1 p.Leu339Arg Uncertain significance Single submitter
- TET1 p.Lys1019Arg Uncertain significance Single submitter
- TET1 p.Lys1148Gln Uncertain significance Single submitter
- TET1 p.Lys126Arg Uncertain significance Single submitter
- TET1 p.Lys1280Asn Uncertain significance Single submitter
- TET1 p.Lys1757Arg Uncertain significance Single submitter
- TET1 p.Lys1775Arg Uncertain significance Single submitter
- TET1 p.Lys182Asn Uncertain significance Single submitter
- TET1 p.Lys184Arg Uncertain significance Single submitter
- TET1 p.Lys259Glu Uncertain significance Single submitter
- TET1 p.Lys36Glu Uncertain significance Single submitter
- TET1 p.Lys485Thr Uncertain significance Single submitter
- TET1 p.Lys59Arg Uncertain significance Single submitter
- TET1 p.Lys61Ile Uncertain significance Single submitter
- TET1 p.Lys668Met Uncertain significance Single submitter
- TET1 p.Lys776Asn Uncertain significance Single submitter
- TET1 p.Lys792Glu Uncertain significance Single submitter
- TET1 p.Met1182Arg Uncertain significance Single submitter
- TET1 p.Met1330Thr Uncertain significance Single submitter
- TET1 p.Met1400Ile Uncertain significance Single submitter
- TET1 p.Met160Lys Uncertain significance Single submitter
- TET1 p.Met1725Val Uncertain significance Single submitter
- TET1 p.Met1834Lys Uncertain significance Single submitter
- TET1 p.Met1883Ile Uncertain significance Single submitter
- TET1 p.Met568Thr Uncertain significance Single submitter
- TET1 p.Met568Val Uncertain significance Single submitter
- TET1 p.Met702Thr Uncertain significance Single submitter
- TET1 p.Phe1321Val Uncertain significance Single submitter
- TET1 p.Phe752Cys Uncertain significance Single submitter
- TET1 p.Pro1248Ala Uncertain significance Single submitter
- TET1 p.Pro1347Arg Uncertain significance Single submitter
- TET1 p.Pro1347Leu Uncertain significance Single submitter
- TET1 p.Pro1750Leu Uncertain significance Single submitter
- TET1 p.Pro1852Leu Uncertain significance Single submitter
- TET1 p.Pro1879His Uncertain significance Single submitter
- TET1 p.Pro1899Leu Uncertain significance Single submitter
- TET1 p.Pro1926Ala Uncertain significance Single submitter
- TET1 p.Pro1933Leu Uncertain significance Single submitter
- TET1 p.Pro2036His Uncertain significance Single submitter
- TET1 p.Pro2092Ser Uncertain significance Single submitter
- TET1 p.Pro452His Uncertain significance Single submitter
- TET1 p.Pro67Ser Uncertain significance Single submitter
- TET1 p.Pro951Thr Uncertain significance Single submitter
- TET1 p.Ser1054Arg Uncertain significance Single submitter
- TET1 p.Ser1152Pro Uncertain significance Single submitter
- TET1 p.Ser1349Leu Uncertain significance Single submitter
- TET1 p.Ser157Leu Uncertain significance Single submitter
- TET1 p.Ser1877Asn Uncertain significance Single submitter
- TET1 p.Ser1948Cys Uncertain significance Single submitter
- TET1 p.Ser1964Phe Uncertain significance Single submitter
- TET1 p.Ser229Phe Uncertain significance Single submitter
- TET1 p.Ser300Tyr Uncertain significance Single submitter
- TET1 p.Ser424Asn Uncertain significance Single submitter
- TET1 p.Ser545Arg Uncertain significance Single submitter
- TET1 p.Ser570Gly Uncertain significance Single submitter
- TET1 p.Ser675Gly Uncertain significance Single submitter
- TET1 p.Ser806Ala Uncertain significance Single submitter
- TET1 p.Ser925Asn Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- TET1 p.Arg1505Cys Uncertain significance Single submitter
- TET1 p.Arg1656His Uncertain significance Single submitter
- TET1 p.Arg81Pro Uncertain significance Single submitter
- TET1 p.Arg8Ser Uncertain significance Single submitter
- TET1 p.Asn1637Ser Uncertain significance Single submitter
- TET1 p.Glu1998Asp Uncertain significance Single submitter
- TET1 p.Gly1458Arg Uncertain significance Single submitter
- TET1 p.His1439Gln Uncertain significance Single submitter
- TET1 p.Leu1537Val Uncertain significance Single submitter
- TET1 p.Lys1784Asn Uncertain significance Single submitter
- TET1 p.Thr1554Ile Uncertain significance Single submitter
- TET1 p.Tyr608Asp Uncertain significance Single submitter
- TET1 p.Val1639Leu Uncertain significance Single submitter
All TET1 variants
Benign 15
- p.Ala2129= Multiple submitters
- p.Ala985Ser Multiple submitters
- p.Arg1503= Multiple submitters
- p.Cys832Tyr Multiple submitters
- p.Glu1968= Multiple submitters
- p.Glu917= Multiple submitters
- p.Leu166Phe Multiple submitters
- p.Ser1793Asn Multiple submitters
- p.Ser701Asn Multiple submitters
- p.Thr1421Ala Multiple submitters
- p.Val435Ile Multiple submitters
- p.Asn802= Single submitter
- p.Leu172= Single submitter
- p.Leu1921= Single submitter
- p.Lys776= No assertion criteria TET1-related disorder
Benign/Likely benign 1
- p.Thr1745= Multiple submitters
Likely benign 30
- c.5053-3C>T Single submitter
- p.Ala1760= Single submitter
- p.Ala1896Val Single submitter
- p.Arg222Cys Single submitter
- p.Arg745Gln Single submitter
- p.Gln1072Lys Single submitter
- p.Gly1871Val Single submitter
- p.Ile1484Val Single submitter
- p.Leu941= Single submitter
- p.Lys1722Arg Single submitter
- p.Lys801Asn Single submitter
- p.Pro1095Ser Single submitter
- p.Ser1885Leu Single submitter
- p.Ser322Tyr Single submitter
- p.Thr455Ala Single submitter
- p.Val122Ile Single submitter
- p.Val1808Met Single submitter
- p.Val426Ala Single submitter
- p.Ala244= No assertion criteria TET1-related disorder
- p.Arg1333Lys No assertion criteria TET1-related disorder
- p.Asn1405= No assertion criteria TET1-related disorder
- p.Asp1702= No assertion criteria TET1-related disorder
- p.Asp1972= No assertion criteria TET1-related disorder
- p.Gln683Glu No assertion criteria TET1-related disorder
- p.Gly1847= No assertion criteria TET1-related disorder
- p.His2028= No assertion criteria TET1-related disorder
- p.Leu766= No assertion criteria TET1-related disorder
- p.Ser1832= No assertion criteria TET1-related disorder
- p.Thr87Ser No assertion criteria TET1-related disorder
- p.Val548= No assertion criteria TET1-related disorder
Uncertain significance 210
- p.Glu1906Lys Multiple submitters ⚠
- p.Ala1276Thr Single submitter ⚠
- p.Ala1314Thr Single submitter ⚠
- p.Ala1837Thr Single submitter ⚠
- p.Ala1866Pro Single submitter ⚠
- p.Ala2014Gly Single submitter ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala244Gly Single submitter ⚠
- p.Ala341Val Single submitter ⚠
- p.Ala348Gly Single submitter ⚠
- p.Ala733Thr Single submitter ⚠
- p.Ala733Val Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Ala924Pro Single submitter ⚠
- p.Ala989Thr Single submitter ⚠
- p.Arg1158Gln Single submitter ⚠
- p.Arg1159Trp Single submitter ⚠
- p.Arg1173Leu Single submitter ⚠
- p.Arg1505Cys Single submitter ⚠
- p.Arg1646Ter Single submitter hearing loss disorder
- p.Arg1656His Single submitter ⚠
- p.Arg1887Gly Single submitter ⚠
- p.Arg2038His Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Arg81Pro Single submitter ⚠
- p.Arg86Lys Single submitter ⚠
- p.Arg8Ser Single submitter ⚠
- p.Asn1111fs Single submitter
- p.Asn1111Lys Single submitter ⚠
- p.Asn1273Ser Single submitter ⚠
- p.Asn1293Tyr Single submitter ⚠
- p.Asn1396His Single submitter ⚠
- p.Asn1637Ser Single submitter ⚠
- p.Asn2039Ser Single submitter ⚠
- p.Asn35Asp Single submitter ⚠
- p.Asn482His Single submitter ⚠
- p.Asn971Ser Single submitter ⚠
- p.Asn987Lys Single submitter ⚠
- p.Asp139Asn Single submitter ⚠
- p.Asp1614Gly Single submitter ⚠
- p.Asp168Gly Single submitter ⚠
- p.Asp1951Val Single submitter ⚠
- p.Asp428Glu Single submitter ⚠
- p.Asp57Glu Single submitter ⚠
- p.Asp85Asn Single submitter ⚠
- p.Asp916Tyr Single submitter ⚠
- p.Cys1031Arg Single submitter ⚠
- p.Cys140Arg Single submitter ⚠
- p.Cys140Tyr Single submitter ⚠
- p.Cys677Ser Single submitter ⚠
- p.Cys677Tyr Single submitter ⚠
- p.Gln1200Arg Single submitter ⚠
- p.Gln1328Lys Single submitter ⚠
- p.Gln1636Glu Single submitter ⚠
- p.Gln1809Lys Single submitter ⚠
- p.Gln263Arg Single submitter ⚠
- p.Gln513Arg Single submitter ⚠
- p.Gln947fs Single submitter
- p.Glu1096Ala Single submitter ⚠
- p.Glu1170Gln Single submitter ⚠
- p.Glu1177Gln Single submitter ⚠
- p.Glu1384Gly Single submitter ⚠
- p.Glu1723Gln Single submitter ⚠
- p.Glu1774Gln Single submitter ⚠
- p.Glu1985Gln Single submitter ⚠
- p.Glu1998Asp Single submitter ⚠
- p.Glu2100Val Single submitter ⚠
- p.Glu740Gly Single submitter ⚠
- p.Glu780Gln Single submitter ⚠
- p.Glu852Lys Single submitter ⚠
- p.Glu920Ala Single submitter ⚠
- p.Glu920Asp Single submitter ⚠
- p.Gly1121Cys Single submitter ⚠
- p.Gly1274Glu Single submitter ⚠
- p.Gly1362Asp Single submitter ⚠
- p.Gly1458Arg Single submitter ⚠
- p.Gly1697Ala Single submitter ⚠
- p.Gly1755Val Single submitter ⚠
- p.Gly1871Arg Single submitter ⚠
- p.Gly1905Asp Single submitter ⚠
- p.Gly1929Cys Single submitter ⚠
- p.Gly400Arg Single submitter ⚠
- p.Gly537Ser Single submitter ⚠
- p.Gly678Asp Single submitter ⚠
- p.Gly680Trp Single submitter ⚠
- p.Gly783Ser Single submitter ⚠
- p.Gly972Trp Single submitter
- p.His1204Arg Single submitter ⚠
- p.His1439Gln Single submitter ⚠
- p.His1941Tyr Single submitter ⚠
- p.His2035Gln Single submitter ⚠
- p.His6Tyr Single submitter ⚠
- p.His721Leu Single submitter ⚠
- p.His764Tyr Single submitter ⚠
- p.His840Arg Single submitter ⚠
- p.Ile1021Thr Single submitter ⚠
- p.Ile1073Thr Single submitter ⚠
- p.Ile2066Met Single submitter ⚠
- p.Ile440Thr Single submitter ⚠
- p.Ile862Met Single submitter ⚠
- p.Leu1263Pro Single submitter ⚠
- p.Leu1337Met Single submitter ⚠
- p.Leu1537Val Single submitter ⚠
- p.Leu1921Arg Single submitter ⚠
- p.Leu315Ser Single submitter ⚠
- p.Leu339Arg Single submitter ⚠
- p.Lys1019Arg Single submitter ⚠
- p.Lys1148Gln Single submitter ⚠
- p.Lys126Arg Single submitter ⚠
- p.Lys1280Asn Single submitter ⚠
- p.Lys1757Arg Single submitter ⚠
- p.Lys1775Arg Single submitter ⚠
- p.Lys1784Asn Single submitter ⚠
- p.Lys182Asn Single submitter ⚠
- p.Lys184Arg Single submitter ⚠
- p.Lys259Glu Single submitter ⚠
- p.Lys36Glu Single submitter ⚠
- p.Lys485Thr Single submitter ⚠
- p.Lys59Arg Single submitter ⚠
- p.Lys61Ile Single submitter ⚠
- p.Lys668Met Single submitter ⚠
- p.Lys776Asn Single submitter ⚠
- p.Lys792Glu Single submitter ⚠
- p.Met1182Arg Single submitter ⚠
- p.Met1330Thr Single submitter ⚠
- p.Met1400Ile Single submitter ⚠
- p.Met160Lys Single submitter ⚠
- p.Met1725Val Single submitter ⚠
- p.Met1834Lys Single submitter ⚠
- p.Met1883Ile Single submitter ⚠
- p.Met568Thr Single submitter ⚠
- p.Met568Val Single submitter ⚠
- p.Met702Thr Single submitter ⚠
- p.Phe1321Val Single submitter ⚠
- p.Phe752Cys Single submitter ⚠
- p.Pro1248Ala Single submitter ⚠
- p.Pro1347Arg Single submitter ⚠
- p.Pro1347Leu Single submitter ⚠
- p.Pro1750Leu Single submitter ⚠
- p.Pro1852Leu Single submitter ⚠
- p.Pro1879His Single submitter ⚠
- p.Pro1899Leu Single submitter ⚠
- p.Pro1926Ala Single submitter ⚠
- p.Pro1933Leu Single submitter ⚠
- p.Pro2036His Single submitter ⚠
- p.Pro2092Ser Single submitter ⚠
- p.Pro452His Single submitter ⚠
- p.Pro67Ser Single submitter ⚠
- p.Pro951Thr Single submitter ⚠
- p.Ser1054Arg Single submitter ⚠
- p.Ser1152Pro Single submitter ⚠
- p.Ser1349Leu Single submitter ⚠
- p.Ser157Leu Single submitter ⚠
- p.Ser1877Asn Single submitter ⚠
- p.Ser1948Cys Single submitter ⚠
- p.Ser1964Phe Single submitter ⚠
- p.Ser229Phe Single submitter ⚠
- p.Ser300Tyr Single submitter ⚠
- p.Ser424Asn Single submitter ⚠
- p.Ser545Arg Single submitter ⚠
- p.Ser570Gly Single submitter ⚠
- p.Ser675Gly Single submitter ⚠
- p.Ser806Ala Single submitter ⚠
- p.Ser925Asn Single submitter ⚠
- p.Ser929Thr Single submitter ⚠
- p.Ser980Pro Single submitter ⚠
- p.Thr1027Ile Single submitter ⚠
- p.Thr1069Ser Single submitter ⚠
- p.Thr1122Ala Single submitter ⚠
- p.Thr1150Ala Single submitter ⚠
- p.Thr1226Met Single submitter ⚠
- p.Thr1270Met Single submitter ⚠
- p.Thr1289Met Single submitter ⚠
- p.Thr1554Asn Single submitter ⚠
- p.Thr1554Ile Single submitter ⚠
- p.Thr1687Ser Single submitter ⚠
- p.Thr1745Met Single submitter ⚠
- p.Thr1788Ala Single submitter ⚠
- p.Thr1789Pro Single submitter ⚠
- p.Thr1858Ile Single submitter ⚠
- p.Thr188Ala Single submitter ⚠
- p.Thr1912Ala Single submitter ⚠
- p.Thr1947Ile Single submitter ⚠
- p.Thr232Ile Single submitter ⚠
- p.Thr362Ile Single submitter ⚠
- p.Thr512Ala Single submitter ⚠
- p.Tyr1116His Single submitter ⚠
- p.Tyr1168Asp Single submitter ⚠
- p.Tyr1831Cys Single submitter ⚠
- p.Tyr608Asp Single submitter ⚠
- p.Tyr791Phe Single submitter ⚠
- p.Val1325Asp Single submitter ⚠
- p.Val1356Ala Single submitter ⚠
- p.Val13Ala Single submitter ⚠
- p.Val1639Leu Single submitter ⚠
- p.Val1644Ile Single submitter ⚠
- p.Val1907Met Single submitter ⚠
- p.Val248Glu Single submitter ⚠
- p.Val260Ile Single submitter ⚠
- p.Val277Ala Single submitter ⚠
- p.Val384Phe Single submitter ⚠
- p.Val456fs Single submitter
- p.Val569Ile Single submitter ⚠
- p.Val633Ile Single submitter ⚠
- p.Val722Leu Single submitter ⚠
- p.Val722Met Single submitter ⚠
- p.Val763Glu Single submitter ⚠
- p.Val822Ile Single submitter ⚠
- p.Val891Leu Single submitter ⚠
- p.His1941Leu No assertion criteria TET1-related disorder ⚠