TET3 — 547 ClinVar variants
All ClinVar germline TET3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 337 flagged for review →
13 Pathogenic · 7 Pathogenic/Likely pathogenic · 38 Likely pathogenic · 18 Conflicting · 14 Benign · 4 Benign/Likely benign · 95 Likely benign · 358 Uncertain significance
Full TET3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 337
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TET3 p.Glu788Lys
Likely pathogenic
No assertion criteria
plasma cell myeloma
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TET3 p.Ala1570Thr Conflicting Single submitter
-
TET3 p.Ala436Val
Conflicting
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Arg856Gln
Conflicting
Single submitter
Beck-Fahrner syndrome
- TET3 p.Gly1213Asp Conflicting Single submitter
-
TET3 p.Pro1382Thr
Conflicting
Single submitter
Inborn genetic diseases
-
TET3 p.Pro1677Leu
Conflicting
Single submitter
TET3-related disorder
-
TET3 p.Pro499Leu
Conflicting
Single submitter
Inborn genetic diseases
-
TET3 p.Thr1676Met
Conflicting
Single submitter
Beck-Fahrner syndrome
- TET3 p.Thr546Ile Conflicting Single submitter
- TET3 p.Val1468Ile Conflicting Single submitter
-
TET3 p.Val1089Met
Conflicting
No assertion criteria
Beck-Fahrner syndrome
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
TET3 p.Glu1758fs
Conflicting
Single submitter
Paediatric disorders
-
TET3 p.Thr1749fs
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 254
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 254
-
TET3 p.Arg1054His
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Arg1688Cys
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Arg430Gly
Uncertain significance
Multiple submitters
TET3-related disorder
- TET3 p.Arg604Gln Uncertain significance Multiple submitters
-
TET3 p.Arg752Cys
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Asp1774Tyr
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Glu873Lys
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Gly1056Glu
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
- TET3 p.Gly1137Arg Uncertain significance Multiple submitters
-
TET3 p.Lys1278Arg
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Pro155Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TET3 p.Pro1616Ser
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Pro397Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TET3 p.Pro419Ser
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
- TET3 p.Pro575His Uncertain significance Multiple submitters
-
TET3 p.Pro575Thr
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Ser1395Phe
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Ser1426Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TET3 p.Ser332Phe Uncertain significance Multiple submitters
- TET3 p.Ser848Phe Uncertain significance Multiple submitters
-
TET3 p.Thr59Ala
Uncertain significance
Multiple submitters
TET3-related disorder
-
TET3 p.Val1295Ile
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Val27Ile
Uncertain significance
Multiple submitters
Beck-Fahrner syndrome
-
TET3 p.Ala1007Thr
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Ala1039Val Uncertain significance Single submitter
-
TET3 p.Ala1195Val
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Ala1323Ser Uncertain significance Single submitter
- TET3 p.Ala1372Ser Uncertain significance Single submitter
- TET3 p.Ala1414Val Uncertain significance Single submitter
- TET3 p.Ala1481Ser Uncertain significance Single submitter
- TET3 p.Ala1536Val Uncertain significance Single submitter
- TET3 p.Ala1569Pro Uncertain significance Single submitter
- TET3 p.Ala1570Val Uncertain significance Single submitter
-
TET3 p.Ala163Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TET3 p.Ala1752Pro Uncertain significance Single submitter
- TET3 p.Ala248Thr Uncertain significance Single submitter
-
TET3 p.Ala317Thr
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Ala380Val
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Ala418Pro Uncertain significance Single submitter
- TET3 p.Ala470Thr Uncertain significance Single submitter
-
TET3 p.Ala502Thr
Uncertain significance
Single submitter
TET3-related disorder
-
TET3 p.Ala511Val
Uncertain significance
Single submitter
TET3-related disorder
-
TET3 p.Ala556Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TET3 p.Ala642Gly
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Ala655Ser Uncertain significance Single submitter
- TET3 p.Ala665Val Uncertain significance Single submitter
- TET3 p.Ala668Val Uncertain significance Single submitter
- TET3 p.Ala919Asp Uncertain significance Single submitter
-
TET3 p.Arg1054Cys
Uncertain significance
Single submitter
TET3-related disorder
- TET3 p.Arg1054Pro Uncertain significance Single submitter
-
TET3 p.Arg1247Gln
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Arg1509Gln Uncertain significance Single submitter
- TET3 p.Arg1688Pro Uncertain significance Single submitter
-
TET3 p.Arg1729Gln
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Arg193Cys Uncertain significance Single submitter
- TET3 p.Arg219Trp Uncertain significance Single submitter
-
TET3 p.Arg226His
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Arg23Cys
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Arg264Gln
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Arg395Gly Uncertain significance Single submitter
- TET3 p.Arg402Trp Uncertain significance Single submitter
- TET3 p.Arg447Trp Uncertain significance Single submitter
- TET3 p.Arg615Gln Uncertain significance Single submitter
-
TET3 p.Arg625Gln
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Arg871Gln Uncertain significance Single submitter
- TET3 p.Arg871Leu Uncertain significance Single submitter
- TET3 p.Arg871Trp Uncertain significance Single submitter
-
TET3 p.Arg886Cys
Uncertain significance
Single submitter
TET3-related disorder
- TET3 p.Arg909Trp Uncertain significance Single submitter
-
TET3 p.Arg997Gly
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Asn1273Ser
Uncertain significance
Single submitter
neurodevelopmental disorder
- TET3 p.Asn1293Lys Uncertain significance Single submitter
- TET3 p.Asn1326Ser Uncertain significance Single submitter
- TET3 p.Asn1450Thr Uncertain significance Single submitter
- TET3 p.Asn157Ser Uncertain significance Single submitter
- TET3 p.Asn1682Ser Uncertain significance Single submitter
-
TET3 p.Asn234Lys
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Asn273Ser Uncertain significance Single submitter
- TET3 p.Asn952Ser Uncertain significance Single submitter
- TET3 p.Asn974Ser Uncertain significance Single submitter
- TET3 p.Asp1071Ala Uncertain significance Single submitter
- TET3 p.Asp1079Asn Uncertain significance Single submitter
- TET3 p.Asp1122Tyr Uncertain significance Single submitter
-
TET3 p.Asp1348Asn
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Asp181Glu
Uncertain significance
Single submitter
TET3-related disorder
- TET3 p.Asp254His Uncertain significance Single submitter
- TET3 p.Asp458Asn Uncertain significance Single submitter
- TET3 p.Asp705Glu Uncertain significance Single submitter
-
TET3 p.Cys246Tyr
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Cys888Gly
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Cys906Gly Uncertain significance Single submitter
-
TET3 p.Cys968Ser
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Gln1038Arg
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Gln1177Glu Uncertain significance Single submitter
-
TET3 p.Gln1574Lys
Uncertain significance
Single submitter
TET3-related disorder
- TET3 p.Gln1580His Uncertain significance Single submitter
- TET3 p.Gln1755Pro Uncertain significance Single submitter
- TET3 p.Gln1756Glu Uncertain significance Single submitter
- TET3 p.Gln24His Uncertain significance Single submitter
- TET3 p.Gln465His Uncertain significance Single submitter
- TET3 p.Gln522Arg Uncertain significance Single submitter
- TET3 p.Gln5His Uncertain significance Single submitter
- TET3 p.Gln5Leu Uncertain significance Single submitter
- TET3 p.Gln82Arg Uncertain significance Single submitter
-
TET3 p.Glu1027Lys
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Glu1047Lys Uncertain significance Single submitter
-
TET3 p.Glu1059Lys
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Glu1106Asp Uncertain significance Single submitter
- TET3 p.Glu124Asp Uncertain significance Single submitter
-
TET3 p.Glu1316Gln
Uncertain significance
Single submitter
TET3-related disorder
- TET3 p.Glu1339Asp Uncertain significance Single submitter
-
TET3 p.Glu1532Gln
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Glu1615Asp Uncertain significance Single submitter
- TET3 p.Glu1625Ala Uncertain significance Single submitter
- TET3 p.Glu1736Lys Uncertain significance Single submitter
- TET3 p.Glu208Asp Uncertain significance Single submitter
-
TET3 p.Glu251Lys
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Glu432Gln
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Glu435Asp Uncertain significance Single submitter
-
TET3 p.Glu593Lys
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Glu61Asp Uncertain significance Single submitter
- TET3 p.Glu61Lys Uncertain significance Single submitter
- TET3 p.Gly116Glu Uncertain significance Single submitter
- TET3 p.Gly1233Arg Uncertain significance Single submitter
- TET3 p.Gly1302Ser Uncertain significance Single submitter
- TET3 p.Gly1310Ser Uncertain significance Single submitter
- TET3 p.Gly1334Val Uncertain significance Single submitter
- TET3 p.Gly1418Asp Uncertain significance Single submitter
- TET3 p.Gly1430Arg Uncertain significance Single submitter
- TET3 p.Gly1453Ser Uncertain significance Single submitter
-
TET3 p.Gly1476Glu
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Gly1488Val Uncertain significance Single submitter
- TET3 p.Gly1491Arg Uncertain significance Single submitter
- TET3 p.Gly1491Glu Uncertain significance Single submitter
- TET3 p.Gly1491Val Uncertain significance Single submitter
- TET3 p.Gly1505Arg Uncertain significance Single submitter
- TET3 p.Gly1527Glu Uncertain significance Single submitter
- TET3 p.Gly1583Arg Uncertain significance Single submitter
- TET3 p.Gly1594Arg Uncertain significance Single submitter
- TET3 p.Gly1627Cys Uncertain significance Single submitter
- TET3 p.Gly1629Arg Uncertain significance Single submitter
-
TET3 p.Gly1761Trp
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Gly245Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TET3 p.Gly32Arg Uncertain significance Single submitter
- TET3 p.Gly653Asp Uncertain significance Single submitter
-
TET3 p.Gly653Val
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Gly797Cys Uncertain significance Single submitter
- TET3 p.Gly887Asp Uncertain significance Single submitter
-
TET3 p.His1322Gln
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.His1355Tyr
Uncertain significance
Single submitter
TET3-related disorder
Predictors split 69
The independent predictors disagree with each other — read with care.
-
TET3 p.Arg1744His
Uncertain significance
Multiple submitters
TET3-related disorder
- TET3 p.Ala1170Glu Uncertain significance Single submitter
- TET3 p.Ala821Asp Uncertain significance Single submitter
-
TET3 p.Ala919Thr
Likely benign
Single submitter
Developmental disorder
-
TET3 p.Ala967Ser
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Arg1002Cys Uncertain significance Single submitter
- TET3 p.Arg1002Ser Uncertain significance Single submitter
- TET3 p.Arg1162Trp Uncertain significance Single submitter
- TET3 p.Arg1669Gln Uncertain significance Single submitter
-
TET3 p.Arg1669Trp
Uncertain significance
Single submitter
TET3-related disorder
-
TET3 p.Arg1683Cys
Conflicting
Single submitter
Beck-Fahrner syndrome
- TET3 p.Arg1683His Pathogenic Single submitter
- TET3 p.Arg536Cys Uncertain significance Single submitter
- TET3 p.Arg712Pro Uncertain significance Single submitter
-
TET3 p.Arg712Trp
Uncertain significance
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Arg862Gln
Conflicting
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Arg957Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TET3 p.Asn1650Ile Uncertain significance Single submitter
-
TET3 p.Asn961Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- TET3 p.Asp458Tyr Uncertain significance Single submitter
- TET3 p.Glu1238Ala Uncertain significance Single submitter
-
TET3 p.Glu1238Lys
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Glu1399Lys Uncertain significance Single submitter
- TET3 p.Glu1725Lys Uncertain significance Single submitter
- TET3 p.Glu227Lys Uncertain significance Single submitter
-
TET3 p.Glu824Lys
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Glu942Lys Uncertain significance Single submitter
- TET3 p.Gly1102Asp Uncertain significance Single submitter
- TET3 p.Gly959Val Uncertain significance Single submitter
- TET3 p.His1111Gln Uncertain significance Single submitter
- TET3 p.His1704Gln Uncertain significance Single submitter
- TET3 p.His1704Tyr Uncertain significance Single submitter
- TET3 p.Ile872Met Uncertain significance Single submitter
-
TET3 p.Leu1115Val
Likely pathogenic
Single submitter
Beck-Fahrner syndrome
-
TET3 p.Leu1181Pro
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Leu532Pro Uncertain significance Single submitter
- TET3 p.Leu813Val Uncertain significance Single submitter
- TET3 p.Leu960Phe Uncertain significance Single submitter
- TET3 p.Lys1219Asn Uncertain significance Single submitter
- TET3 p.Lys1738Asn Uncertain significance Single submitter
- TET3 p.Lys1745Thr Uncertain significance Single submitter
-
TET3 p.Lys581Asn
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Lys85Ile Uncertain significance Single submitter
- TET3 p.Lys971Thr Uncertain significance Single submitter
- TET3 p.Phe1552Leu Uncertain significance Single submitter
- TET3 p.Phe1606Leu Uncertain significance Single submitter
- TET3 p.Pro1001Ser Uncertain significance Single submitter
- TET3 p.Pro1114Leu Uncertain significance Single submitter
- TET3 p.Pro1681Ser Uncertain significance Single submitter
- TET3 p.Pro269Leu Uncertain significance Single submitter
-
TET3 p.Pro841Leu
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Pro850Leu Uncertain significance Single submitter
- TET3 p.Ser1158Phe Uncertain significance Single submitter
-
TET3 p.Ser1781Tyr
Uncertain significance
Single submitter
neurodevelopmental disorder
- TET3 p.Ser854Phe Uncertain significance Single submitter
- TET3 p.Ser884Arg Uncertain significance Single submitter
-
TET3 p.Thr1773Arg
Uncertain significance
Single submitter
Beck-Fahrner syndrome
- TET3 p.Thr1785Pro Uncertain significance Single submitter
-
TET3 p.Thr851Met
Conflicting
Single submitter
Beck-Fahrner syndrome
- TET3 p.Trp1746Cys Uncertain significance Single submitter
- TET3 p.Trp1746Leu Conflicting Single submitter
- TET3 p.Trp1746Ser Uncertain significance Single submitter
- TET3 p.Trp559Cys Uncertain significance Single submitter
- TET3 p.Tyr1782Cys Uncertain significance Single submitter
- TET3 p.Tyr1782His Uncertain significance Single submitter
- TET3 p.Tyr1782Ser Uncertain significance Single submitter
- TET3 p.Val1656Leu Uncertain significance Single submitter
-
TET3 p.Glu1172Lys
Uncertain significance
No assertion criteria
TET3-related disorder
-
TET3 p.Lys755Glu
Uncertain significance
No assertion criteria
TET3-related disorder
All TET3 variants
Pathogenic 13
- p.Arg1150Ter Multiple submitters Beck-Fahrner syndrome
- c.658C>T Single submitter Inborn genetic diseases
- p.Arg1683His Single submitter ⚠
- p.Arg625Ter Single submitter Beck-Fahrner syndrome
- p.Gln638Ter Single submitter Beck-Fahrner syndrome
- p.Gln82Ter Single submitter Beck-Fahrner syndrome
- p.Lys1078fs Single submitter
- p.Pro745fs Single submitter Inborn genetic diseases
- p.Ser729fs Single submitter Beck-Fahrner syndrome
- p.Thr680fs Single submitter Beck-Fahrner syndrome
- p.Trp450Ter Single submitter Beck-Fahrner syndrome
- p.Tyr940_Leu947del Single submitter
- p.Gln738Ter No assertion criteria Beck-Fahrner syndrome
Pathogenic/Likely pathogenic 7
- p.Arg1034Ter Multiple submitters
- p.Ala1076Thr No assertion criteria Beck-Fahrner syndrome
- p.Gln1695Ter No assertion criteria Beck-Fahrner syndrome
- p.His1660fs No assertion criteria Beck-Fahrner syndrome
- p.Phe1072Cys No assertion criteria Beck-Fahrner syndrome
- p.Trp406fs No assertion criteria Beck-Fahrner syndrome
- p.Val908Leu No assertion criteria TET3 deficiency
Likely pathogenic 38
- p.Arg911Gln Multiple submitters
- c.2680-2A>G Single submitter Inborn genetic diseases
- c.4625C>T Single submitter Inborn genetic diseases
- p.Ala665fs Single submitter Beck-Fahrner syndrome
- p.Arg1509Ter Single submitter Beck-Fahrner syndrome
- p.Arg1688Gly Single submitter
- p.Arg911Gly Single submitter
- p.Asn1293fs Single submitter Beck-Fahrner syndrome
- p.Asp458fs Single submitter TET3-Related Beck-Fahrner Syndrome
- p.Cys1091fs Single submitter Beck-Fahrner syndrome
- p.Cys246Ter Single submitter Beck-Fahrner syndrome
- p.Cys906Ter Single submitter Beck-Fahrner syndrome
- p.Cys958Tyr Single submitter Inborn genetic diseases
- p.Gln24Ter Single submitter Beck-Fahrner syndrome
- p.Gln3Ter Single submitter
- p.Gly1748fs Single submitter TET3-related disorder
- p.Gly913fs Single submitter Beck-Fahrner syndrome
- p.His1503fs Single submitter
- p.Ile890fs Single submitter TET3-related disorder
- p.Ile895fs Single submitter Beck-Fahrner syndrome
- p.Leu1024Pro Single submitter Inborn genetic diseases
- p.Leu1115Pro Single submitter Inborn genetic diseases
- p.Leu1115Val Single submitter Beck-Fahrner syndrome ⚠
- p.Leu1708fs Single submitter
- p.Lys1003fs Single submitter Beck-Fahrner syndrome
- p.Lys994Gln Single submitter Inborn genetic diseases
- p.Pro688fs Single submitter Beck-Fahrner syndrome
- p.Ser1618fs Single submitter Beck-Fahrner syndrome
- p.Ser368fs Single submitter Beck-Fahrner syndrome
- p.Thr59fs Single submitter
- p.Trp1306fs Single submitter Beck-Fahrner syndrome
- p.Trp437Ter Single submitter Beck-Fahrner syndrome
- p.Gln1189Ter No assertion criteria TET3-related disorder
- p.Gln1299Ter No assertion criteria TET3-related disorder
- p.Glu788Lys No assertion criteria plasma cell myeloma ⚠
- p.Glu865fs No assertion criteria Beck-Fahrner syndrome
- p.His1075Tyr No assertion criteria Beck-Fahrner syndrome
- p.Lys1278fs No assertion criteria Beck-Fahrner syndrome
Conflicting classifications of pathogenicity 18
- p.Ala1570Thr Single submitter ⚠
- p.Ala436Val Single submitter Beck-Fahrner syndrome ⚠
- p.Arg1683Cys Single submitter Beck-Fahrner syndrome ⚠
- p.Arg856Gln Single submitter Beck-Fahrner syndrome ⚠
- p.Arg862Gln Single submitter Beck-Fahrner syndrome ⚠
- p.Glu1758fs Single submitter Paediatric disorders ⚠
- p.Gly1213Asp Single submitter ⚠
- p.Lys1760del Single submitter Beck-Fahrner syndrome
- p.Pro1382Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1677Leu Single submitter TET3-related disorder ⚠
- p.Pro499Leu Single submitter Inborn genetic diseases ⚠
- p.Thr1676Met Single submitter Beck-Fahrner syndrome ⚠
- p.Thr1749fs Single submitter Inborn genetic diseases ⚠
- p.Thr546Ile Single submitter ⚠
- p.Thr851Met Single submitter Beck-Fahrner syndrome ⚠
- p.Trp1746Leu Single submitter ⚠
- p.Val1468Ile Single submitter ⚠
- p.Val1089Met No assertion criteria Beck-Fahrner syndrome ⚠
Benign 14
- c.360+47G>A Multiple submitters Beck-Fahrner syndrome
- p.Gln1724= Multiple submitters
- p.Gly1653= Multiple submitters
- p.Leu1508= Multiple submitters
- p.Leu846= Multiple submitters Beck-Fahrner syndrome
- p.Pro429Ser Multiple submitters
- p.Pro457= Multiple submitters
- c.361-17dup Single submitter Beck-Fahrner syndrome
- p.Ala1717= Single submitter
- p.Gly1627= Single submitter
- p.Ala1578= No assertion criteria TET3-related disorder
- p.Asn1046= No assertion criteria TET3-related disorder
- p.Leu710= No assertion criteria TET3-related disorder
- p.Val590Met No assertion criteria TET3-related disorder
Benign/Likely benign 4
- p.Arg712Gln Multiple submitters Beck-Fahrner syndrome
- p.Leu935= Multiple submitters Beck-Fahrner syndrome
- p.Pro645Leu Multiple submitters
- p.Val567Ala Multiple submitters
Likely benign 95
- p.Ala1039= Multiple submitters
- p.Ala1338= Multiple submitters
- p.Ala1536= Multiple submitters
- p.His414= Multiple submitters
- p.Pro371= Multiple submitters
- p.Ser1504Pro Multiple submitters Inborn genetic diseases
- p.Ser340= Multiple submitters
- p.Ser367= Multiple submitters
- c.2494+8C>T Single submitter
- c.2494+9G>C Single submitter
- c.303+7C>A Single submitter
- c.3039+9A>T Single submitter
- c.304-16C>T Single submitter
- c.360+21_360+34del Single submitter
- c.3604+12dup Single submitter
- p.Ala1068Gly Single submitter Beck-Fahrner syndrome
- p.Ala1195= Single submitter
- p.Ala1372= Single submitter
- p.Ala1407Pro Single submitter
- p.Ala1539= Single submitter
- p.Ala1621= Single submitter
- p.Ala1631= Single submitter
- p.Ala1655= Single submitter
- p.Ala1776Val Single submitter
- p.Ala919Thr Single submitter Developmental disorder ⚠
- p.Arg1247= Single submitter
- p.Arg147= Single submitter
- p.Arg301Trp Single submitter Inborn genetic diseases
- p.Arg569Gln Single submitter
- p.Arg573= Single submitter
- p.Arg625= Single submitter
- p.Arg886= Single submitter
- p.Asn918= Single submitter
- p.Cys1100= Single submitter
- p.Gln1022= Single submitter
- p.Gln3= Single submitter
- p.Glu1666= Single submitter
- p.Gly1208= Single submitter
- p.Gly1488= Single submitter
- p.Gly1495Ser Single submitter
- p.Gly1562= Single submitter
- p.Gly171= Single submitter
- p.Gly1747= Single submitter
- p.Gly46= Single submitter
- p.Gly840= Single submitter
- p.His1075= Single submitter
- p.His1660= Single submitter
- p.His1673= Single submitter
- p.His265= Single submitter
- p.Ile732= Single submitter
- p.Leu1205= Single submitter
- p.Leu1422= Single submitter
- p.Leu1596= Single submitter
- p.Leu216= Single submitter
- p.Leu648= Single submitter
- p.Lys706= Single submitter
- p.Met1254Val Single submitter
- p.Phe1063= Single submitter
- p.Pro1153= Single submitter
- p.Pro1373= Single submitter
- p.Pro140Gln Single submitter
- p.Pro1512= Single submitter Inborn genetic diseases
- p.Pro1534= Single submitter
- p.Pro305= Single submitter
- p.Pro316= Single submitter
- p.Pro512= Single submitter
- p.Pro514= Single submitter
- p.Pro589= Single submitter
- p.Pro645= Single submitter
- p.Pro678= Single submitter
- p.Pro728Ala Single submitter Inborn genetic diseases
- p.Pro802= Single submitter
- p.Ser1126= Single submitter
- p.Ser1199= Single submitter
- p.Ser1232= Single submitter
- p.Ser1241= Single submitter
- p.Ser1423= Single submitter
- p.Ser1640= Single submitter
- p.Ser1775= Single submitter
- p.Ser204= Single submitter
- p.Ser376= Single submitter
- p.Ser456= Single submitter
- p.Ser516= Single submitter
- p.Thr1143= Single submitter
- p.Thr377= Single submitter
- p.Thr592= Single submitter
- p.Tyr1286= Single submitter
- p.Tyr863= Single submitter
- p.Val1028= Single submitter
- p.Val1141= Single submitter
- p.Val293= Single submitter
- p.Val922= Single submitter
- p.Pro1222= No assertion criteria TET3-related disorder
- p.Pro501= No assertion criteria TET3-related disorder
- p.Thr486Ala No assertion criteria TET3-related disorder
Uncertain significance 358
Showing the top 300 by review status; the full set is in the sitemap.
- p.1309SGS[1] Multiple submitters Beck-Fahrner syndrome
- p.500AP[1] Multiple submitters Beck-Fahrner syndrome
- p.Arg1054His Multiple submitters Beck-Fahrner syndrome ⚠
- p.Arg1688Cys Multiple submitters Beck-Fahrner syndrome ⚠
- p.Arg1744His Multiple submitters TET3-related disorder ⚠
- p.Arg430Gly Multiple submitters TET3-related disorder ⚠
- p.Arg604Gln Multiple submitters ⚠
- p.Arg752Cys Multiple submitters Beck-Fahrner syndrome ⚠
- p.Asn1326_Ser1327insArgLeu Multiple submitters Inborn genetic diseases
- p.Asp1774Tyr Multiple submitters Beck-Fahrner syndrome ⚠
- p.Glu873Lys Multiple submitters Beck-Fahrner syndrome ⚠
- p.Gly1056Glu Multiple submitters Beck-Fahrner syndrome ⚠
- p.Gly1137Arg Multiple submitters ⚠
- p.Lys1278Arg Multiple submitters Beck-Fahrner syndrome ⚠
- p.Pro155Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1616Ser Multiple submitters Beck-Fahrner syndrome ⚠
- p.Pro397Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro419Ser Multiple submitters Beck-Fahrner syndrome ⚠
- p.Pro575His Multiple submitters ⚠
- p.Pro575Thr Multiple submitters Beck-Fahrner syndrome ⚠
- p.Ser1395Phe Multiple submitters Beck-Fahrner syndrome ⚠
- p.Ser1426Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser332Phe Multiple submitters ⚠
- p.Ser848Phe Multiple submitters ⚠
- p.Thr59Ala Multiple submitters TET3-related disorder ⚠
- p.Val1295Ile Multiple submitters Beck-Fahrner syndrome ⚠
- p.Val27Ile Multiple submitters Beck-Fahrner syndrome ⚠
- c.1098_1103dupGGCCCC Single submitter Inborn genetic diseases
- c.2228C>T Single submitter Inborn genetic diseases
- c.2281C>A Single submitter Inborn genetic diseases
- c.2282G>A Single submitter Inborn genetic diseases
- c.2494+3A>C Single submitter
- c.2495-3671G>A Single submitter Beck-Fahrner syndrome
- c.303+5G>C Single submitter
- c.3040-8C>T Single submitter Beck-Fahrner syndrome
- c.3130-5C>T Single submitter TET3-related disorder
- c.3267+5G>A Single submitter
- c.3604+5del Single submitter
- c.3604+7G>T Single submitter Beck-Fahrner syndrome
- c.85G>C Single submitter Inborn genetic diseases
- c.-425+1G>T Single submitter Beck-Fahrner syndrome
- p.Ala1007Thr Single submitter Beck-Fahrner syndrome ⚠
- p.Ala1039Val Single submitter ⚠
- p.Ala1170Glu Single submitter ⚠
- p.Ala1195Val Single submitter Beck-Fahrner syndrome ⚠
- p.Ala1323Ser Single submitter ⚠
- p.Ala1372Ser Single submitter ⚠
- p.Ala1414Val Single submitter ⚠
- p.Ala1481Ser Single submitter ⚠
- p.Ala1536Val Single submitter ⚠
- p.Ala1569Pro Single submitter ⚠
- p.Ala1570Val Single submitter ⚠
- p.Ala163Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1722_Arg1723insAla Single submitter
- p.Ala1752Pro Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala263= Single submitter TET3-related disorder
- p.Ala317Thr Single submitter Beck-Fahrner syndrome ⚠
- p.Ala380Val Single submitter Beck-Fahrner syndrome ⚠
- p.Ala418Pro Single submitter ⚠
- p.Ala470Thr Single submitter ⚠
- p.Ala502Thr Single submitter TET3-related disorder ⚠
- p.Ala511Val Single submitter TET3-related disorder ⚠
- p.Ala556Val Single submitter Inborn genetic diseases ⚠
- p.Ala642Gly Single submitter Beck-Fahrner syndrome ⚠
- p.Ala655Ser Single submitter ⚠
- p.Ala665Val Single submitter ⚠
- p.Ala668Val Single submitter ⚠
- p.Ala821Asp Single submitter ⚠
- p.Ala919Asp Single submitter ⚠
- p.Ala967Ser Single submitter Beck-Fahrner syndrome ⚠
- p.Arg1002Cys Single submitter ⚠
- p.Arg1002Ser Single submitter ⚠
- p.Arg1054Cys Single submitter TET3-related disorder ⚠
- p.Arg1054Pro Single submitter ⚠
- p.Arg1162Trp Single submitter ⚠
- p.Arg1247Gln Single submitter Beck-Fahrner syndrome ⚠
- p.Arg1509Gln Single submitter ⚠
- p.Arg1669Gln Single submitter ⚠
- p.Arg1669Trp Single submitter TET3-related disorder ⚠
- p.Arg1688Pro Single submitter ⚠
- p.Arg1729Gln Single submitter Beck-Fahrner syndrome ⚠
- p.Arg193Cys Single submitter ⚠
- p.Arg219Trp Single submitter ⚠
- p.Arg226His Single submitter Beck-Fahrner syndrome ⚠
- p.Arg23Cys Single submitter Beck-Fahrner syndrome ⚠
- p.Arg264Gln Single submitter Beck-Fahrner syndrome ⚠
- p.Arg395Gly Single submitter ⚠
- p.Arg402Trp Single submitter ⚠
- p.Arg447Trp Single submitter ⚠
- p.Arg536Cys Single submitter ⚠
- p.Arg615Gln Single submitter ⚠
- p.Arg625Gln Single submitter Beck-Fahrner syndrome ⚠
- p.Arg64Trp Single submitter
- p.Arg712Pro Single submitter ⚠
- p.Arg712Trp Single submitter Beck-Fahrner syndrome ⚠
- p.Arg79His Single submitter
- p.Arg871Gln Single submitter ⚠
- p.Arg871Leu Single submitter ⚠
- p.Arg871Trp Single submitter ⚠
- p.Arg886Cys Single submitter TET3-related disorder ⚠
- p.Arg909Trp Single submitter ⚠
- p.Arg957Lys Single submitter Inborn genetic diseases ⚠
- p.Arg997Gly Single submitter Beck-Fahrner syndrome ⚠
- p.Asn1046del Single submitter neurodevelopmental disorder
- p.Asn1273Ser Single submitter neurodevelopmental disorder ⚠
- p.Asn1293Lys Single submitter ⚠
- p.Asn1326Ser Single submitter ⚠
- p.Asn1450Thr Single submitter ⚠
- p.Asn157Ser Single submitter ⚠
- p.Asn1650Ile Single submitter ⚠
- p.Asn1682Ser Single submitter ⚠
- p.Asn234Lys Single submitter Beck-Fahrner syndrome ⚠
- p.Asn273Ser Single submitter ⚠
- p.Asn952Ser Single submitter ⚠
- p.Asn961Asp Single submitter Inborn genetic diseases ⚠
- p.Asn974Ser Single submitter ⚠
- p.Asp1071Ala Single submitter ⚠
- p.Asp1079Asn Single submitter ⚠
- p.Asp1122Tyr Single submitter ⚠
- p.Asp1348Asn Single submitter Beck-Fahrner syndrome ⚠
- p.Asp181Glu Single submitter TET3-related disorder ⚠
- p.Asp254His Single submitter ⚠
- p.Asp458Asn Single submitter ⚠
- p.Asp458Tyr Single submitter ⚠
- p.Asp705Glu Single submitter ⚠
- p.Cys246Tyr Single submitter Beck-Fahrner syndrome ⚠
- p.Cys69fs Single submitter
- p.Cys888Gly Single submitter Beck-Fahrner syndrome ⚠
- p.Cys906Gly Single submitter ⚠
- p.Cys968Ser Single submitter Beck-Fahrner syndrome ⚠
- p.Gln1038Arg Single submitter Beck-Fahrner syndrome ⚠
- p.Gln1177Glu Single submitter ⚠
- p.Gln1406delinsArgTer Single submitter Beck-Fahrner syndrome
- p.Gln1498_Gln1499del Single submitter
- p.Gln1574Lys Single submitter TET3-related disorder ⚠
- p.Gln1580His Single submitter ⚠
- p.Gln1755Pro Single submitter ⚠
- p.Gln1756Glu Single submitter ⚠
- p.Gln24His Single submitter ⚠
- p.Gln465His Single submitter ⚠
- p.Gln522Arg Single submitter ⚠
- p.Gln5His Single submitter ⚠
- p.Gln5Leu Single submitter ⚠
- p.Gln82Arg Single submitter ⚠
- p.Glu101= Single submitter
- p.Glu1027Lys Single submitter Beck-Fahrner syndrome ⚠
- p.Glu1047Lys Single submitter ⚠
- p.Glu1059Lys Single submitter Beck-Fahrner syndrome ⚠
- p.Glu1106Asp Single submitter ⚠
- p.Glu1238Ala Single submitter ⚠
- p.Glu1238Lys Single submitter Beck-Fahrner syndrome ⚠
- p.Glu124Asp Single submitter ⚠
- p.Glu1316Gln Single submitter TET3-related disorder ⚠
- p.Glu1339Asp Single submitter ⚠
- p.Glu1399Lys Single submitter ⚠
- p.Glu1532Gln Single submitter Beck-Fahrner syndrome ⚠
- p.Glu1615Asp Single submitter ⚠
- p.Glu1625Ala Single submitter ⚠
- p.Glu1725Lys Single submitter ⚠
- p.Glu1736Lys Single submitter ⚠
- p.Glu1753Leu Single submitter Inborn genetic diseases
- p.Glu208Asp Single submitter ⚠
- p.Glu227Lys Single submitter ⚠
- p.Glu251Lys Single submitter Beck-Fahrner syndrome ⚠
- p.Glu432Gln Single submitter Beck-Fahrner syndrome ⚠
- p.Glu435Asp Single submitter ⚠
- p.Glu593Lys Single submitter Beck-Fahrner syndrome ⚠
- p.Glu61Asp Single submitter ⚠
- p.Glu61Lys Single submitter ⚠
- p.Glu824Lys Single submitter Beck-Fahrner syndrome ⚠
- p.Glu942Lys Single submitter ⚠
- p.Gly1102Asp Single submitter ⚠
- p.Gly116Glu Single submitter ⚠
- p.Gly1233Arg Single submitter ⚠
- p.Gly1302Ser Single submitter ⚠
- p.Gly1310Ser Single submitter ⚠
- p.Gly1334Val Single submitter ⚠
- p.Gly1418Asp Single submitter ⚠
- p.Gly1430Arg Single submitter ⚠
- p.Gly1453Ser Single submitter ⚠
- p.Gly1476Glu Single submitter Beck-Fahrner syndrome ⚠
- p.Gly1488Val Single submitter ⚠
- p.Gly1491Arg Single submitter ⚠
- p.Gly1491Glu Single submitter ⚠
- p.Gly1491Val Single submitter ⚠
- p.Gly1505Arg Single submitter ⚠
- p.Gly1527Glu Single submitter ⚠
- p.Gly1583Arg Single submitter ⚠
- p.Gly1594Arg Single submitter ⚠
- p.Gly1627Cys Single submitter ⚠
- p.Gly1629Arg Single submitter ⚠
- p.Gly1761Trp Single submitter Beck-Fahrner syndrome ⚠
- p.Gly245Cys Single submitter Inborn genetic diseases ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly48fs Single submitter
- p.Gly653Asp Single submitter ⚠
- p.Gly653Val Single submitter Beck-Fahrner syndrome ⚠
- p.Gly797Cys Single submitter ⚠
- p.Gly887Asp Single submitter ⚠
- p.Gly959Val Single submitter ⚠
- p.His1111Gln Single submitter ⚠
- p.His1322Gln Single submitter Beck-Fahrner syndrome ⚠
- p.His1355Tyr Single submitter TET3-related disorder ⚠
- p.His1503Tyr Single submitter ⚠
- p.His1673Asn Single submitter Beck-Fahrner syndrome ⚠
- p.His1685fs Single submitter neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- p.His1704Gln Single submitter ⚠
- p.His1704Tyr Single submitter ⚠
- p.His774Arg Single submitter ⚠
- p.His845Tyr Single submitter ⚠
- p.Ile1197Phe Single submitter Beck-Fahrner syndrome ⚠
- p.Ile1651Val Single submitter ⚠
- p.Ile1689Val Single submitter ⚠
- p.Ile732Val Single submitter ⚠
- p.Ile834Val Single submitter Beck-Fahrner syndrome ⚠
- p.Ile872Met Single submitter ⚠
- p.Leu1181Pro Single submitter Beck-Fahrner syndrome ⚠
- p.Leu1192Val Single submitter ⚠
- p.Leu1328Pro Single submitter Inborn genetic diseases ⚠
- p.Leu1375Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1472Phe Single submitter ⚠
- p.Leu1480Arg Single submitter ⚠
- p.Leu1492Pro Single submitter ⚠
- p.Leu1592Met Single submitter Inborn genetic diseases ⚠
- p.Leu1602Pro Single submitter ⚠
- p.Leu1691Gln Single submitter ⚠
- p.Leu220Ile Single submitter ⚠
- p.Leu484Val Single submitter ⚠
- p.Leu532Pro Single submitter ⚠
- p.Leu620Val Single submitter ⚠
- p.Leu813Val Single submitter ⚠
- p.Leu8fs Single submitter TET3-related disorder
- p.Leu960Phe Single submitter ⚠
- p.Leu99Phe Single submitter ⚠
- p.Lys1175del Single submitter
- p.Lys120Arg Single submitter ⚠
- p.Lys1219Asn Single submitter ⚠
- p.Lys1626_Glu1633del Single submitter Inborn genetic diseases
- p.Lys1626Arg Single submitter ⚠
- p.Lys1714fs Single submitter
- p.Lys1738Asn Single submitter ⚠
- p.Lys1743Arg Single submitter ⚠
- p.Lys1745Thr Single submitter ⚠
- p.Lys479Arg Single submitter Beck-Fahrner syndrome ⚠
- p.Lys489Arg Single submitter ⚠
- p.Lys579Arg Single submitter ⚠
- p.Lys581Asn Single submitter Beck-Fahrner syndrome ⚠
- p.Lys755Arg Single submitter ⚠
- p.Lys85Ile Single submitter ⚠
- p.Lys866Arg Single submitter ⚠
- p.Lys874Arg Single submitter ⚠
- p.Lys874del Single submitter
- p.Lys95= Single submitter
- p.Lys971Thr Single submitter ⚠
- p.Met295Val Single submitter ⚠
- p.Met452Ile Single submitter TET3-related disorder ⚠
- p.Met859Thr Single submitter ⚠
- p.Phe1552Leu Single submitter ⚠
- p.Phe1582Tyr Single submitter ⚠
- p.Phe1606Leu Single submitter ⚠
- p.Phe1693del Single submitter Beck-Fahrner syndrome
- p.Pro1001Ser Single submitter ⚠
- p.Pro1114Leu Single submitter ⚠
- p.Pro1248Ser Single submitter ⚠
- p.Pro1330Ala Single submitter ⚠
- p.Pro1354Leu Single submitter ⚠
- p.Pro1362Ser Single submitter TET3-related disorder ⚠
- p.Pro1364Ser Single submitter ⚠
- p.Pro1373Ala Single submitter ⚠
- p.Pro1373Ser Single submitter ⚠
- p.Pro1384Thr Single submitter TET3-related disorder ⚠
- p.Pro1421Leu Single submitter ⚠
- p.Pro1528Ala Single submitter ⚠
- p.Pro15Ser Single submitter ⚠
- p.Pro1681Ser Single submitter ⚠
- p.Pro173Leu Single submitter ⚠
- p.Pro269Leu Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro305Leu Single submitter ⚠
- p.Pro316Ser Single submitter ⚠
- p.Pro373_Ser374delinsPhe Single submitter
- p.Pro378Arg Single submitter Inborn genetic diseases ⚠
- p.Pro383His Single submitter ⚠
- p.Pro410Ser Single submitter ⚠
- p.Pro419Thr Single submitter ⚠
- p.Pro488_Lys489del Single submitter
- p.Pro499Arg Single submitter ⚠
- p.Pro501Leu Single submitter Beck-Fahrner syndrome ⚠
- p.Pro503_Ser504insAlaPro Single submitter
- p.Pro518Leu Single submitter ⚠
- p.Pro574Leu Single submitter ⚠
- p.Pro669Ser Single submitter ⚠
- p.Pro678Leu Single submitter Beck-Fahrner syndrome ⚠
- p.Pro699Leu Single submitter TET3-related disorder ⚠
- p.Pro728Ser Single submitter Inborn genetic diseases ⚠
- p.Pro728Thr Single submitter Inborn genetic diseases ⚠
- p.Pro754Leu Single submitter TET3-related disorder ⚠
- p.Pro841Leu Single submitter Beck-Fahrner syndrome ⚠
- p.Pro850Leu Single submitter ⚠