KDM3B — 469 ClinVar variants
All ClinVar germline KDM3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 296 flagged for review →
24 Pathogenic · 2 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 11 Conflicting · 16 Benign · 4 Benign/Likely benign · 82 Likely benign · 309 Uncertain significance
Full KDM3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 296
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
KDM3B p.Ala115Val
Likely pathogenic
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Asp336Gly
Pathogenic
No assertion criteria
Diets-Jongmans syndrome
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KDM3B p.Arg1028Gln
Conflicting
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Arg613His
Conflicting
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg921Trp
Conflicting
Single submitter
Inborn genetic diseases
-
KDM3B p.Ser458Leu
Conflicting
Single submitter
Inborn genetic diseases
-
KDM3B p.Thr1171Ala
Conflicting
Single submitter
Inborn genetic diseases
-
KDM3B p.Val1139Ile
Conflicting
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Val574Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 209
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 209
- KDM3B p.Ala31Val Uncertain significance Multiple submitters
-
KDM3B p.Ala865Val
Uncertain significance
Multiple submitters
KDM3B-related disorder
-
KDM3B p.Arg1659His
Uncertain significance
Multiple submitters
Diets-Jongmans syndrome
-
KDM3B p.Arg227His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KDM3B p.Arg591Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KDM3B p.Asn1106Ser Uncertain significance Multiple submitters
-
KDM3B p.Cys1357Tyr
Uncertain significance
Multiple submitters
KDM3B-related disorder
-
KDM3B p.Gly721Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KDM3B p.Lys1733Asn Uncertain significance Multiple submitters
-
KDM3B p.Lys867Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KDM3B p.Pro1210Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KDM3B p.Pro1254Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KDM3B p.Thr1068Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KDM3B p.Thr123Ile
Uncertain significance
Multiple submitters
Diets-Jongmans syndrome
- KDM3B p.Tyr1617Cys Uncertain significance Multiple submitters
-
KDM3B p.Val885Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KDM3B p.Ala1168Val Uncertain significance Single submitter
-
KDM3B p.Ala1207Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ala1216Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Ala1283Pro Uncertain significance Single submitter
- KDM3B p.Ala1566Thr Uncertain significance Single submitter
- KDM3B p.Ala1612Pro Uncertain significance Single submitter
- KDM3B p.Ala173Val Uncertain significance Single submitter
-
KDM3B p.Ala21Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Ala21Thr Uncertain significance Single submitter
-
KDM3B p.Ala256Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Ala26Val Uncertain significance Single submitter
-
KDM3B p.Ala28Val
Uncertain significance
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Ala33Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ala406Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Ala41Val Uncertain significance Single submitter
-
KDM3B p.Ala422Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ala427Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ala457Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ala457Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Ala46Ser Uncertain significance Single submitter
-
KDM3B p.Ala4Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ala548Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ala671Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Ala709Pro Uncertain significance Single submitter
- KDM3B p.Ala830Thr Uncertain significance Single submitter
-
KDM3B p.Arg1058Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg111Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg1355Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Arg1472Gln Uncertain significance Single submitter
-
KDM3B p.Arg1553Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg1626Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg193Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Arg321Leu Uncertain significance Single submitter
-
KDM3B p.Arg554Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg607Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg607Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg724His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg851Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg918His
Uncertain significance
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Arg938His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Asn1202Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Asn1285Ser Uncertain significance Single submitter
- KDM3B p.Asn1450Ser Uncertain significance Single submitter
-
KDM3B p.Asn152Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Asn165Lys Uncertain significance Single submitter
- KDM3B p.Asn351His Uncertain significance Single submitter
-
KDM3B p.Asn538Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Asn617Ser Uncertain significance Single submitter
-
KDM3B p.Asn787Ile
Uncertain significance
Single submitter
Diets-Jongmans syndrome
- KDM3B p.Asn848Asp Uncertain significance Single submitter
-
KDM3B p.Asp1182Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Asp150Asn Uncertain significance Single submitter
-
KDM3B p.Asp1583Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Asp1621His
Uncertain significance
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Asp1703Tyr
Uncertain significance
Single submitter
Diets-Jongmans syndrome
- KDM3B p.Asp243His Uncertain significance Single submitter
- KDM3B p.Asp315His Uncertain significance Single submitter
-
KDM3B p.Asp3Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Asp967Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Cys1056Tyr Uncertain significance Single submitter
-
KDM3B p.Cys509Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Cys509Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Gln1363Arg Uncertain significance Single submitter
- KDM3B p.Gln1601His Uncertain significance Single submitter
-
KDM3B p.Gln1636Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Gln412Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Gln415Arg
Uncertain significance
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Gln864Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Gln879Glu Uncertain significance Single submitter
-
KDM3B p.Glu1091Ala
Uncertain significance
Single submitter
KDM3B-related disorder
- KDM3B p.Glu144Gly Uncertain significance Single submitter
-
KDM3B p.Glu1592Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Glu170Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Glu170Gly
Uncertain significance
Single submitter
KDM3B-related disorder
-
KDM3B p.Glu176Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Glu211Gly Uncertain significance Single submitter
-
KDM3B p.Glu260Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Glu397Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Glu411Gln
Uncertain significance
Single submitter
KDM3B-related disorder
- KDM3B p.Glu448Gln Uncertain significance Single submitter
-
KDM3B p.Glu93Gly
Uncertain significance
Single submitter
syndromic intellectual disability
-
KDM3B p.Gly1164Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Gly1165Arg
Uncertain significance
Single submitter
KDM3B-related disorder
- KDM3B p.Gly1580Val Uncertain significance Single submitter
-
KDM3B p.Gly261Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Gly294Arg
Uncertain significance
Single submitter
KDM3B-related disorder
-
KDM3B p.Gly307Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Gly317Val
Uncertain significance
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Gly36Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Gly39Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.His1015Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.His1604Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.His1644Gln Uncertain significance Single submitter
- KDM3B p.His1648Arg Uncertain significance Single submitter
- KDM3B p.His171Arg Uncertain significance Single submitter
- KDM3B p.His1727Tyr Uncertain significance Single submitter
- KDM3B p.His618Asp Uncertain significance Single submitter
-
KDM3B p.Ile239Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ile736Val
Uncertain significance
Single submitter
Diets-Jongmans syndrome
- KDM3B p.Leu1278Trp Uncertain significance Single submitter
-
KDM3B p.Leu14Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Leu168Val Uncertain significance Single submitter
-
KDM3B p.Leu251Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Leu496Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Leu561Phe Uncertain significance Single submitter
- KDM3B p.Leu575Pro Uncertain significance Single submitter
- KDM3B p.Leu621Ile Uncertain significance Single submitter
-
KDM3B p.Leu706Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Leu717Phe
Uncertain significance
Single submitter
Diets-Jongmans syndrome
- KDM3B p.Leu777Gln Uncertain significance Single submitter
- KDM3B p.Leu855Pro Uncertain significance Single submitter
- KDM3B p.Leu875Val Uncertain significance Single submitter
-
KDM3B p.Lys1081Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Lys11Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Lys1484Arg Uncertain significance Single submitter
-
KDM3B p.Lys1699Asn
Uncertain significance
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Lys340Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Lys669Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Lys669Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Lys788Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Lys861Arg Uncertain significance Single submitter
-
KDM3B p.Met1009Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Met1369Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Met1369Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Met842Ile Uncertain significance Single submitter
-
KDM3B p.Pro1167Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Pro1169Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Pro1175Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Pro124Ala Uncertain significance Single submitter
-
KDM3B p.Pro1301Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Pro1301Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Pro1308Thr Uncertain significance Single submitter
-
KDM3B p.Pro1314Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Pro1528Arg Uncertain significance Single submitter
Predictors split 78
The independent predictors disagree with each other — read with care.
-
KDM3B p.Asp283His
Uncertain significance
Multiple submitters
KDM3B-related disorder
-
KDM3B p.Gln1231Leu
Uncertain significance
Multiple submitters
Diets-Jongmans syndrome
- KDM3B p.Glu1592Lys Uncertain significance Multiple submitters
-
KDM3B p.Gly1300Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KDM3B p.Gly1667Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KDM3B p.Gly1670Ala
Uncertain significance
Multiple submitters
Developmental disorder
-
KDM3B p.Gly364Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KDM3B p.Lys1471Glu Uncertain significance Multiple submitters
-
KDM3B p.Phe191Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KDM3B p.Val9Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KDM3B p.Ala1226Thr Uncertain significance Single submitter
- KDM3B p.Ala1229Val Uncertain significance Single submitter
- KDM3B p.Ala1341Val Uncertain significance Single submitter
-
KDM3B p.Ala1672Thr
Likely benign
Single submitter
Inborn genetic diseases
- KDM3B p.Ala26Asp Uncertain significance Single submitter
-
KDM3B p.Arg1025Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg1294Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg1406Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg1460Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Arg1460Trp Uncertain significance Single submitter
-
KDM3B p.Arg1602Lys
Uncertain significance
Single submitter
Diets-Jongmans syndrome
- KDM3B p.Arg245Ile Uncertain significance Single submitter
-
KDM3B p.Arg285Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Arg915Cys
Uncertain significance
Single submitter
Diets-Jongmans syndrome
- KDM3B p.Arg923Trp Uncertain significance Single submitter
- KDM3B p.Asn1275Asp Uncertain significance Single submitter
-
KDM3B p.Asn1401Asp
Likely pathogenic
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Asn363His
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Asn524Lys Uncertain significance Single submitter
- KDM3B p.Asp1351His Uncertain significance Single submitter
- KDM3B p.Asp1461Val Uncertain significance Single submitter
-
KDM3B p.Asp1518His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Asp162Glu
Uncertain significance
Single submitter
KDM3B-related disorder
-
KDM3B p.Asp371Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Glu1239Lys
Uncertain significance
Single submitter
Diets-Jongmans syndrome
- KDM3B p.Glu1345Gly Uncertain significance Single submitter
- KDM3B p.Glu1627Lys Uncertain significance Single submitter
- KDM3B p.Glu737Lys Uncertain significance Single submitter
- KDM3B p.Gly1142Glu Uncertain significance Single submitter
-
KDM3B p.Gly1578Glu
Conflicting
Single submitter
Inborn genetic diseases
-
KDM3B p.Gly862Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.His1338Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.His1742Tyr
Uncertain significance
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Ile1625Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Ile736Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Leu1509Val Uncertain significance Single submitter
-
KDM3B p.Lys1117Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Lys1430Met
Uncertain significance
Single submitter
Diets-Jongmans syndrome
- KDM3B p.Lys1539Arg Likely pathogenic Single submitter
-
KDM3B p.Lys859Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Lys861Glu
Conflicting
Single submitter
Inborn genetic diseases
- KDM3B p.Lys913Gln Uncertain significance Single submitter
-
KDM3B p.Met1003Ile
Uncertain significance
Single submitter
Diets-Jongmans syndrome
-
KDM3B p.Met530Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Phe765Ser Uncertain significance Single submitter
-
KDM3B p.Phe797Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Pro104Leu Uncertain significance Single submitter
- KDM3B p.Pro1100Ser Uncertain significance Single submitter
- KDM3B p.Pro1396Ser Uncertain significance Single submitter
- KDM3B p.Pro974Ser Uncertain significance Single submitter
-
KDM3B p.Ser1291Pro
Conflicting
Single submitter
Developmental disorder
- KDM3B p.Ser1342Thr Uncertain significance Single submitter
- KDM3B p.Ser1418Leu Uncertain significance Single submitter
- KDM3B p.Ser1455Tyr Uncertain significance Single submitter
- KDM3B p.Ser1525Thr Uncertain significance Single submitter
- KDM3B p.Ser1761Pro Uncertain significance Single submitter
- KDM3B p.Ser551Tyr Uncertain significance Single submitter
- KDM3B p.Ser960Arg Uncertain significance Single submitter
-
KDM3B p.Thr1380Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Thr51Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KDM3B p.Trp324Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Trp47Cys Uncertain significance Single submitter
-
KDM3B p.Tyr1105His
Likely benign
Single submitter
Developmental disorder
- KDM3B p.Val1002Ile Uncertain significance Single submitter
- KDM3B p.Val1567Ile Uncertain significance Single submitter
-
KDM3B p.Val1573Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KDM3B p.Val89Met Uncertain significance Single submitter
-
KDM3B p.Asn906Ile
Uncertain significance
No assertion criteria
KDM3B-related disorder
All KDM3B variants
Pathogenic 24
- p.Tyr1544Cys Multiple submitters Diets-Jongmans syndrome
- p.Arg111Ter Single submitter neurodevelopmental disorder
- p.Arg1630Ter Single submitter
- p.Arg1661Ter Single submitter
- p.Arg306fs Single submitter Diets-Jongmans syndrome
- p.Arg943Trp Single submitter
- p.Arg949Ter Single submitter
- p.Gln1016Ter Single submitter Neurodevelopmental delay
- p.Gln1086Ter Single submitter
- p.Gln1413Ter Single submitter Diets-Jongmans syndrome
- p.Glu1250fs Single submitter Inborn genetic diseases
- p.Leu1536fs Single submitter Inborn genetic diseases
- p.Leu483fs Single submitter Diets-Jongmans syndrome
- p.Phe1502Leu Single submitter
- p.Pro715fs Single submitter Inborn genetic diseases
- p.Ser1144Ter Single submitter
- p.Trp1402Ter Single submitter Rare genetic intellectual disability
- p.Tyr1541Cys Single submitter
- p.Val203fs Single submitter
- p.Arg45Ter No assertion criteria Diets-Jongmans syndrome
- p.Asp1032Val No assertion criteria Diets-Jongmans syndrome
- p.Asp336Gly No assertion criteria Diets-Jongmans syndrome ⚠
- p.Glu1731Lys No assertion criteria Diets-Jongmans syndrome
- p.Glu93Ter No assertion criteria Diets-Jongmans syndrome
Pathogenic/Likely pathogenic 2
- p.Arg1517Ter Multiple submitters
- p.Arg943Gln Multiple submitters KDM3B-related disorder
Likely pathogenic 21
- p.Ala1543Thr Multiple submitters Diets-Jongmans syndrome
- p.Arg1472Ter Multiple submitters Neurodevelopmental delay
- c.3047-1G>A Single submitter autism spectrum disorder
- c.4411+1G>C Single submitter Diets-Jongmans syndrome
- c.785del Single submitter Diets-Jongmans syndrome
- p.Ala115Val Single submitter Diets-Jongmans syndrome ⚠
- p.Arg1028Trp Single submitter Diets-Jongmans syndrome
- p.Arg143Ter Single submitter Diets-Jongmans syndrome
- p.Arg915del Single submitter Diets-Jongmans syndrome
- p.Arg918Cys Single submitter Inborn genetic diseases
- p.Asn1401Asp Single submitter Diets-Jongmans syndrome ⚠
- p.Asp1643fs Single submitter Diets-Jongmans syndrome
- p.Glu1608fs Single submitter Diets-Jongmans syndrome
- p.Leu1257fs Single submitter
- p.Lys1539Arg Single submitter ⚠
- p.Lys627fs Single submitter Diets-Jongmans syndrome
- p.Pro1317fs Single submitter KDM3B-related disorder
- p.Trp1614Ter Single submitter
- p.Trp972Ter Single submitter Diets-Jongmans syndrome
- c.5070+1G>A No assertion criteria Diets-Jongmans syndrome
- p.Phe898Ser No assertion criteria Diets-Jongmans syndrome
Conflicting classifications of pathogenicity 11
- p.23SA[2] Single submitter Inborn genetic diseases
- p.Arg1028Gln Single submitter Diets-Jongmans syndrome ⚠
- p.Arg613His Single submitter Inborn genetic diseases ⚠
- p.Arg921Trp Single submitter Inborn genetic diseases ⚠
- p.Gly1578Glu Single submitter Inborn genetic diseases ⚠
- p.Lys861Glu Single submitter Inborn genetic diseases ⚠
- p.Ser1291Pro Single submitter Developmental disorder ⚠
- p.Ser458Leu Single submitter Inborn genetic diseases ⚠
- p.Thr1171Ala Single submitter Inborn genetic diseases ⚠
- p.Val1139Ile Single submitter Diets-Jongmans syndrome ⚠
- p.Val574Ile Single submitter Inborn genetic diseases ⚠
Benign 16
- p.Gly1163= Multiple submitters Diets-Jongmans syndrome
- p.Ile88= Multiple submitters Diets-Jongmans syndrome
- c.3046+8A>T Single submitter
- p.Ala1198Ser Single submitter
- p.Ala256= Single submitter
- p.Ala256Thr Single submitter Diets-Jongmans syndrome
- p.Glu238= Single submitter Diets-Jongmans syndrome
- p.Gly1372= Single submitter
- p.Pro1169Ser Single submitter
- p.Pro780= Single submitter
- p.Ser1201Asn Single submitter
- p.Thr439Ser Single submitter
- c.4893+9C>T No assertion criteria KDM3B-related disorder
- p.Ala5Thr No assertion criteria KDM3B-related disorder
- p.Val1674= No assertion criteria KDM3B-related disorder
- p.Val952= No assertion criteria KDM3B-related disorder
Benign/Likely benign 4
- p.Glu1592= Multiple submitters
- p.Glu616Asp Multiple submitters Inborn genetic diseases
- p.Leu1483= Multiple submitters
- p.Pro1317= Multiple submitters
Likely benign 82
- p.Asn848Ser Multiple submitters Inborn genetic diseases
- p.Pro1151Arg Multiple submitters Inborn genetic diseases
- p.Ser810= Multiple submitters
- c.3047-11C>T Single submitter
- c.3435+15G>A Single submitter
- c.360+15C>T Single submitter
- c.4893+4C>T Single submitter
- c.580+8C>T Single submitter
- p.Ala1672Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1747= Single submitter
- p.Ala30= Single submitter
- p.Ala395= Single submitter
- p.Ala979= Single submitter
- p.Arg146Gln Single submitter Inborn genetic diseases
- p.Arg1474Gln Single submitter Inborn genetic diseases
- p.Arg1517= Single submitter
- p.Arg43Cys Single submitter Inborn genetic diseases
- p.Arg591Trp Single submitter Inborn genetic diseases
- p.Arg613Cys Single submitter Inborn genetic diseases
- p.Asn1248Ser Single submitter Inborn genetic diseases
- p.Asn493Ser Single submitter Inborn genetic diseases
- p.Asn787Asp Single submitter Inborn genetic diseases
- p.Asp1185Gly Single submitter Inborn genetic diseases
- p.Asp315Asn Single submitter
- p.Asp555= Single submitter
- p.Gln1656= Single submitter
- p.Gly10= Single submitter
- p.Gly1580Asp Single submitter Inborn genetic diseases
- p.Gly334Glu Single submitter Inborn genetic diseases
- p.Gly390= Single submitter
- p.His1709= Single submitter
- p.Ile225= Single submitter
- p.Ile279Thr Single submitter Inborn genetic diseases
- p.Ile354Val Single submitter Inborn genetic diseases
- p.Ile466Val Single submitter Inborn genetic diseases
- p.Leu1001= Single submitter
- p.Leu1473= Single submitter
- p.Leu503= Single submitter
- p.Leu828Val Single submitter Inborn genetic diseases
- p.Lys268= Single submitter
- p.Lys275del Single submitter Diets-Jongmans syndrome
- p.Phe1466= Single submitter
- p.Pro1151= Single submitter
- p.Pro1167= Single submitter
- p.Pro1175= Single submitter
- p.Pro1301= Single submitter
- p.Pro348= Single submitter
- p.Pro393Ser Single submitter Inborn genetic diseases
- p.Pro477Ser Single submitter Inborn genetic diseases
- p.Pro626= Single submitter
- p.Ser1133Asn Single submitter Developmental disorder
- p.Ser1259Leu Single submitter Inborn genetic diseases
- p.Ser1331Ile Single submitter Inborn genetic diseases
- p.Ser1383= Single submitter
- p.Ser1761= Single submitter
- p.Ser455Leu Single submitter Inborn genetic diseases
- p.Ser479= Single submitter
- p.Ser560Asn Single submitter Inborn genetic diseases
- p.Ser650Thr Single submitter Diets-Jongmans syndrome
- p.Ser660Phe Single submitter Inborn genetic diseases
- p.Ser698= Single submitter
- p.Ser727= Single submitter
- p.Thr1194Arg Single submitter Inborn genetic diseases
- p.Thr1288= Single submitter
- p.Thr1311= Single submitter
- p.Thr383Pro Single submitter
- p.Thr498= Single submitter
- p.Thr541Ser Single submitter Inborn genetic diseases
- p.Thr696= Single submitter
- p.Tyr1105His Single submitter Developmental disorder ⚠
- p.Tyr216Cys Single submitter Inborn genetic diseases
- p.Val59= Single submitter
- c.580+7A>G No assertion criteria KDM3B-related disorder
- p.Ala457= No assertion criteria KDM3B-related disorder
- p.Ala512= No assertion criteria KDM3B-related disorder
- p.Asn1398= No assertion criteria KDM3B-related disorder
- p.Asp438Asn No assertion criteria KDM3B-related disorder
- p.Pro343Leu No assertion criteria KDM3B-related disorder
- p.Ser270= No assertion criteria KDM3B-related disorder
- p.Thr378= No assertion criteria KDM3B-related disorder
- p.Thr409Pro No assertion criteria KDM3B-related disorder
- p.Val231= No assertion criteria KDM3B-related disorder
Uncertain significance 309
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala31Val Multiple submitters ⚠
- p.Ala34_Ser35insAlaAlaAla Multiple submitters
- p.Ala865Val Multiple submitters KDM3B-related disorder ⚠
- p.Arg1659His Multiple submitters Diets-Jongmans syndrome ⚠
- p.Arg227His Multiple submitters Inborn genetic diseases ⚠
- p.Arg591Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn1106Ser Multiple submitters ⚠
- p.Asp283His Multiple submitters KDM3B-related disorder ⚠
- p.Cys1357Tyr Multiple submitters KDM3B-related disorder ⚠
- p.Gln1231Leu Multiple submitters Diets-Jongmans syndrome ⚠
- p.Glu1592Lys Multiple submitters ⚠
- p.Gly1300Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly1667Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly1670Ala Multiple submitters Developmental disorder ⚠
- p.Gly364Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly721Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys1471Glu Multiple submitters ⚠
- p.Lys1733Asn Multiple submitters ⚠
- p.Lys867Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe191Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1210Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1254Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr1068Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr123Ile Multiple submitters Diets-Jongmans syndrome ⚠
- p.Tyr1617Cys Multiple submitters ⚠
- p.Val885Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val9Met Multiple submitters Inborn genetic diseases ⚠
- c.1380+13_1380+14del Single submitter Diets-Jongmans syndrome
- c.193-2731A>G Single submitter
- c.3973-5G>A Single submitter
- c.474+1G>A Single submitter Inborn genetic diseases
- c.474+1G>C Single submitter Inborn genetic diseases
- p.Ala1168Val Single submitter ⚠
- p.Ala1207Pro Single submitter Inborn genetic diseases ⚠
- p.Ala1216Pro Single submitter Inborn genetic diseases ⚠
- p.Ala1221Ser Single submitter Inborn genetic diseases
- p.Ala1226Thr Single submitter ⚠
- p.Ala1229Val Single submitter ⚠
- p.Ala1283Pro Single submitter ⚠
- p.Ala1341Val Single submitter ⚠
- p.Ala1566Thr Single submitter ⚠
- p.Ala1612Pro Single submitter ⚠
- p.Ala173Val Single submitter ⚠
- p.Ala21Gly Single submitter Inborn genetic diseases ⚠
- p.Ala21Thr Single submitter ⚠
- p.Ala256Val Single submitter Inborn genetic diseases ⚠
- p.Ala26Asp Single submitter ⚠
- p.Ala26Val Single submitter ⚠
- p.Ala28_Pro29insSerAla Single submitter Inborn genetic diseases
- p.Ala28Val Single submitter Diets-Jongmans syndrome ⚠
- p.Ala33Pro Single submitter Inborn genetic diseases ⚠
- p.Ala406Thr Single submitter Inborn genetic diseases ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala422Ser Single submitter Inborn genetic diseases ⚠
- p.Ala427Thr Single submitter Inborn genetic diseases ⚠
- p.Ala457Gly Single submitter Inborn genetic diseases ⚠
- p.Ala457Thr Single submitter Inborn genetic diseases ⚠
- p.Ala46Ser Single submitter ⚠
- p.Ala4Ser Single submitter Inborn genetic diseases ⚠
- p.Ala548Gly Single submitter Inborn genetic diseases ⚠
- p.Ala671Glu Single submitter Inborn genetic diseases ⚠
- p.Ala709Pro Single submitter ⚠
- p.Ala830Thr Single submitter ⚠
- p.Arg101His Single submitter Inborn genetic diseases
- p.Arg1025Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1058Trp Single submitter Inborn genetic diseases ⚠
- p.Arg111Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1294Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1355Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1406Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1460Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1460Trp Single submitter ⚠
- p.Arg1472Gln Single submitter ⚠
- p.Arg1553Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1602Lys Single submitter Diets-Jongmans syndrome ⚠
- p.Arg1626Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1715His Single submitter Diets-Jongmans syndrome
- p.Arg193Gln Single submitter Inborn genetic diseases ⚠
- p.Arg245Ile Single submitter ⚠
- p.Arg285Trp Single submitter Inborn genetic diseases ⚠
- p.Arg321Leu Single submitter ⚠
- p.Arg554Gln Single submitter Inborn genetic diseases ⚠
- p.Arg607Gln Single submitter Inborn genetic diseases ⚠
- p.Arg607Trp Single submitter Inborn genetic diseases ⚠
- p.Arg724His Single submitter Inborn genetic diseases ⚠
- p.Arg796Met Single submitter
- p.Arg851Cys Single submitter Inborn genetic diseases ⚠
- p.Arg915Cys Single submitter Diets-Jongmans syndrome ⚠
- p.Arg918His Single submitter Diets-Jongmans syndrome ⚠
- p.Arg923Trp Single submitter ⚠
- p.Arg938His Single submitter Inborn genetic diseases ⚠
- p.Asn1202Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1275Asp Single submitter ⚠
- p.Asn1285Ser Single submitter ⚠
- p.Asn1450Ser Single submitter ⚠
- p.Asn152Ser Single submitter Inborn genetic diseases ⚠
- p.Asn165Lys Single submitter ⚠
- p.Asn351His Single submitter ⚠
- p.Asn363His Single submitter Inborn genetic diseases ⚠
- p.Asn524Lys Single submitter ⚠
- p.Asn538Ser Single submitter Inborn genetic diseases ⚠
- p.Asn617Ser Single submitter ⚠
- p.Asn787Ile Single submitter Diets-Jongmans syndrome ⚠
- p.Asn848Asp Single submitter ⚠
- p.Asp1182Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1351His Single submitter ⚠
- p.Asp1461Val Single submitter ⚠
- p.Asp150Asn Single submitter ⚠
- p.Asp1518His Single submitter Inborn genetic diseases ⚠
- p.Asp1583Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1621His Single submitter Diets-Jongmans syndrome ⚠
- p.Asp162Glu Single submitter KDM3B-related disorder ⚠
- p.Asp1703Tyr Single submitter Diets-Jongmans syndrome ⚠
- p.Asp243His Single submitter ⚠
- p.Asp310His Single submitter Diets-Jongmans syndrome
- p.Asp315His Single submitter ⚠
- p.Asp371Glu Single submitter Inborn genetic diseases ⚠
- p.Asp3Glu Single submitter Inborn genetic diseases ⚠
- p.Asp438Gly Single submitter Inborn genetic diseases
- p.Asp967Glu Single submitter Inborn genetic diseases ⚠
- p.Cys1056Tyr Single submitter ⚠
- p.Cys509Ser Single submitter Inborn genetic diseases ⚠
- p.Cys509Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln1363Arg Single submitter ⚠
- p.Gln1601His Single submitter ⚠
- p.Gln1636Lys Single submitter Inborn genetic diseases ⚠
- p.Gln412Leu Single submitter Inborn genetic diseases ⚠
- p.Gln415Arg Single submitter Diets-Jongmans syndrome ⚠
- p.Gln864Glu Single submitter Inborn genetic diseases ⚠
- p.Gln879Glu Single submitter ⚠
- p.Glu1075Gly Single submitter
- p.Glu1089Lys Single submitter Inborn genetic diseases
- p.Glu1091Ala Single submitter KDM3B-related disorder ⚠
- p.Glu1239Lys Single submitter Diets-Jongmans syndrome ⚠
- p.Glu1345Gly Single submitter ⚠
- p.Glu144Gly Single submitter ⚠
- p.Glu1592Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1627Lys Single submitter ⚠
- p.Glu170Gln Single submitter Inborn genetic diseases ⚠
- p.Glu170Gly Single submitter KDM3B-related disorder ⚠
- p.Glu176Asp Single submitter Inborn genetic diseases ⚠
- p.Glu211Gly Single submitter ⚠
- p.Glu238Lys Single submitter
- p.Glu260Lys Single submitter Inborn genetic diseases ⚠
- p.Glu397Lys Single submitter Inborn genetic diseases ⚠
- p.Glu411Gln Single submitter KDM3B-related disorder ⚠
- p.Glu448Gln Single submitter ⚠
- p.Glu737Lys Single submitter ⚠
- p.Glu93Gly Single submitter syndromic intellectual disability ⚠
- p.Gly1142Glu Single submitter ⚠
- p.Gly1164Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1165Arg Single submitter KDM3B-related disorder ⚠
- p.Gly1580Val Single submitter ⚠
- p.Gly1667_Val1668delinsAla Single submitter
- p.Gly261Trp Single submitter Inborn genetic diseases ⚠
- p.Gly294Arg Single submitter KDM3B-related disorder ⚠
- p.Gly307Ser Single submitter Inborn genetic diseases ⚠
- p.Gly317Val Single submitter Diets-Jongmans syndrome ⚠
- p.Gly36Arg Single submitter Inborn genetic diseases ⚠
- p.Gly39Glu Single submitter Inborn genetic diseases ⚠
- p.Gly849= Single submitter
- p.Gly862Glu Single submitter Inborn genetic diseases ⚠
- p.His1015Gln Single submitter Inborn genetic diseases ⚠
- p.His1338Arg Single submitter Inborn genetic diseases ⚠
- p.His1379Arg Single submitter
- p.His1421Tyr Single submitter Inborn genetic diseases
- p.His1604Asn Single submitter Inborn genetic diseases ⚠
- p.His1644Gln Single submitter ⚠
- p.His1648Arg Single submitter ⚠
- p.His171Arg Single submitter ⚠
- p.His1727Tyr Single submitter ⚠
- p.His1742Tyr Single submitter Diets-Jongmans syndrome ⚠
- p.His618Asp Single submitter ⚠
- p.Ile1625Leu Single submitter Inborn genetic diseases ⚠
- p.Ile239Asn Single submitter Inborn genetic diseases ⚠
- p.Ile736Ser Single submitter Inborn genetic diseases ⚠
- p.Ile736Val Single submitter Diets-Jongmans syndrome ⚠
- p.Leu1278Trp Single submitter ⚠
- p.Leu1304Phe Single submitter neurodevelopmental disorder
- p.Leu141= Single submitter Diets-Jongmans syndrome
- p.Leu14Arg Single submitter Inborn genetic diseases ⚠
- p.Leu1509Val Single submitter ⚠
- p.Leu168Val Single submitter ⚠
- p.Leu251Met Single submitter Inborn genetic diseases ⚠
- p.Leu496Pro Single submitter Inborn genetic diseases ⚠
- p.Leu561Phe Single submitter ⚠
- p.Leu575Pro Single submitter ⚠
- p.Leu621Ile Single submitter ⚠
- p.Leu706Pro Single submitter Inborn genetic diseases ⚠
- p.Leu717Phe Single submitter Diets-Jongmans syndrome ⚠
- p.Leu777Gln Single submitter ⚠
- p.Leu855Pro Single submitter ⚠
- p.Leu875Val Single submitter ⚠
- p.Lys1081Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1117Asn Single submitter Inborn genetic diseases ⚠
- p.Lys11Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1327Glu Single submitter
- p.Lys1430Met Single submitter Diets-Jongmans syndrome ⚠
- p.Lys1484Arg Single submitter ⚠
- p.Lys1699Asn Single submitter Diets-Jongmans syndrome ⚠
- p.Lys340Met Single submitter Inborn genetic diseases ⚠
- p.Lys669Asn Single submitter Inborn genetic diseases ⚠
- p.Lys669Met Single submitter Inborn genetic diseases ⚠
- p.Lys788Arg Single submitter Inborn genetic diseases ⚠
- p.Lys859Glu Single submitter Inborn genetic diseases ⚠
- p.Lys861Arg Single submitter ⚠
- p.Lys913Gln Single submitter ⚠
- p.Met1003Ile Single submitter Diets-Jongmans syndrome ⚠
- p.Met1009Val Single submitter Inborn genetic diseases ⚠
- p.Met1369Ile Single submitter Inborn genetic diseases ⚠
- p.Met1369Leu Single submitter Inborn genetic diseases ⚠
- p.Met530Ile Single submitter Inborn genetic diseases ⚠
- p.Met842Ile Single submitter ⚠
- p.Phe765Ser Single submitter ⚠
- p.Phe797Ile Single submitter Inborn genetic diseases ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro1100Ser Single submitter ⚠
- p.Pro1167Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1169Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1175Leu Single submitter Inborn genetic diseases ⚠
- p.Pro124Ala Single submitter ⚠
- p.Pro1301Arg Single submitter Inborn genetic diseases ⚠
- p.Pro1301Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1308Thr Single submitter ⚠
- p.Pro1314Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1396Ser Single submitter ⚠
- p.Pro1528Arg Single submitter ⚠
- p.Pro195Thr Single submitter ⚠
- p.Pro257Ser Single submitter ⚠
- p.Pro333Leu Single submitter Inborn genetic diseases ⚠
- p.Pro348Ala Single submitter Inborn genetic diseases ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro475Leu Single submitter Diets-Jongmans syndrome ⚠
- p.Pro535Leu Single submitter ⚠
- p.Pro626Leu Single submitter ⚠
- p.Pro672Ala Single submitter KDM3B-related disorder ⚠
- p.Pro691Leu Single submitter Inborn genetic diseases ⚠
- p.Pro974Ser Single submitter ⚠
- p.Ser1133Pro Single submitter ⚠
- p.Ser1133Tyr Single submitter
- p.Ser1148Asn Single submitter Inborn genetic diseases ⚠
- p.Ser1262Cys Single submitter Inborn genetic diseases ⚠
- p.Ser1342Thr Single submitter ⚠
- p.Ser1383Cys Single submitter
- p.Ser1418Leu Single submitter ⚠
- p.Ser1455Tyr Single submitter ⚠
- p.Ser1525Thr Single submitter ⚠
- p.Ser1756Ala Single submitter Inborn genetic diseases ⚠
- p.Ser1761Pro Single submitter ⚠
- p.Ser192Gly Single submitter Inborn genetic diseases ⚠
- p.Ser291Leu Single submitter Inborn genetic diseases ⚠
- p.Ser293Thr Single submitter ⚠
- p.Ser311Gly Single submitter Inborn genetic diseases ⚠
- p.Ser35Asn Single submitter Inborn genetic diseases ⚠
- p.Ser437fs Single submitter Diets-Jongmans syndrome
- p.Ser492Cys Single submitter ⚠
- p.Ser531Phe Single submitter ⚠
- p.Ser551Tyr Single submitter ⚠
- p.Ser553Arg Single submitter Inborn genetic diseases ⚠
- p.Ser565Arg Single submitter Inborn genetic diseases ⚠
- p.Ser587Ile Single submitter ⚠
- p.Ser588Pro Single submitter ⚠
- p.Ser597Cys Single submitter Inborn genetic diseases ⚠
- p.Ser679Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser683Leu Single submitter Inborn genetic diseases ⚠
- p.Ser716Asn Single submitter Inborn genetic diseases ⚠
- p.Ser727Trp Single submitter ⚠
- p.Ser731Asn Single submitter Inborn genetic diseases ⚠
- p.Ser773Pro Single submitter Inborn genetic diseases ⚠
- p.Ser852Asn Single submitter Inborn genetic diseases ⚠
- p.Ser960Arg Single submitter ⚠
- p.Thr1159Ala Single submitter ⚠
- p.Thr1215Met Single submitter Inborn genetic diseases ⚠
- p.Thr121Ala Single submitter KDM3B-related disorder ⚠
- p.Thr1282Ser Single submitter Inborn genetic diseases ⚠
- p.Thr1362Asn Single submitter Inborn genetic diseases ⚠
- p.Thr1380Ser Single submitter Inborn genetic diseases ⚠
- p.Thr1556Ala Single submitter Diets-Jongmans syndrome ⚠
- p.Thr1556Ile Single submitter Diets-Jongmans syndrome ⚠
- p.Thr1599Met Single submitter
- p.Thr426Pro Single submitter ⚠
- p.Thr433= Single submitter
- p.Thr51Met Single submitter Inborn genetic diseases ⚠
- p.Thr579Ile Single submitter Diets-Jongmans syndrome ⚠
- p.Thr600Ser Single submitter Inborn genetic diseases ⚠
- p.Thr664Ile Single submitter Diets-Jongmans syndrome ⚠
- p.Thr667Asn Single submitter Inborn genetic diseases ⚠
- p.Thr696Ser Single submitter Inborn genetic diseases ⚠
- p.Thr729Ile Single submitter Inborn genetic diseases ⚠
- p.Thr751Ile Single submitter Diets-Jongmans syndrome ⚠
- p.Thr814Tyr Single submitter
- p.Trp324Arg Single submitter Inborn genetic diseases ⚠
- p.Trp47Cys Single submitter ⚠
- p.Trp674Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr1741His Single submitter ⚠
- p.Val1002Ile Single submitter ⚠
- p.Val134Met Single submitter Inborn genetic diseases ⚠
- p.Val1567Ile Single submitter ⚠
- p.Val1573Ala Single submitter Inborn genetic diseases ⚠
- p.Val1668Leu Single submitter Diets-Jongmans syndrome ⚠