DLX3 — 204 ClinVar variants
All ClinVar germline DLX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
2 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 7 Conflicting · 33 Benign · 53 Likely benign · 103 Uncertain significance
Full DLX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- DLX3 p.Ala285Thr Conflicting Single submitter
-
DLX3 p.Pro247Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DLX3 p.Ala214Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Ala45Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Arg146Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Arg228Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Arg7Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Asn200Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Asn282Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Gln47Arg
Uncertain significance
Multiple submitters
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
-
DLX3 p.His221Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Leu244Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Pro233Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Ala254Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Ala275Thr Uncertain significance Single submitter
-
DLX3 p.Arg146Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Arg180Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Arg180His Uncertain significance Single submitter
- DLX3 p.Arg93Gln Uncertain significance Single submitter
-
DLX3 p.Arg99Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Asn249Thr
Uncertain significance
Single submitter
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
-
DLX3 p.Asn70Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Asp107Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Asp107Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Asp217Glu Uncertain significance Single submitter
-
DLX3 p.Asp245Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Asp49Gly Uncertain significance Single submitter
-
DLX3 p.Glu118Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Glu158Lys Uncertain significance Single submitter
- DLX3 p.Glu196Gly Uncertain significance Single submitter
- DLX3 p.Gly167Cys Uncertain significance Single submitter
- DLX3 p.Gly191Arg Uncertain significance Single submitter
-
DLX3 p.His274Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.His66Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Ile12Val Uncertain significance Single submitter
- DLX3 p.Ile175Met Uncertain significance Single submitter
-
DLX3 p.Leu141Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Lys131Gln Uncertain significance Single submitter
-
DLX3 p.Pro126Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Pro279Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Pro62Leu
Uncertain significance
Single submitter
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- DLX3 p.Ser10Gly Uncertain significance Single submitter
- DLX3 p.Ser11Thr Uncertain significance Single submitter
-
DLX3 p.Ser219Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Ser238Thr Uncertain significance Single submitter
-
DLX3 p.Ser242Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Thr134Met Uncertain significance Single submitter
-
DLX3 p.Thr64Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Tyr188Cys Uncertain significance Single submitter
-
DLX3 p.Tyr98Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Val173Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 24
The independent predictors disagree with each other — read with care.
-
DLX3 p.Gly278Arg
Likely benign
Multiple submitters
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
-
DLX3 p.Gly76Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Pro224Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLX3 p.Asp28Tyr
Conflicting
Single submitter
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
-
DLX3 p.Cys22Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.His23Arg Uncertain significance Single submitter
-
DLX3 p.His23Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Pro211Leu Uncertain significance Single submitter
- DLX3 p.Pro234Leu Uncertain significance Single submitter
-
DLX3 p.Pro280Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Pro280Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Pro30Thr Uncertain significance Single submitter
- DLX3 p.Pro82Leu Uncertain significance Single submitter
- DLX3 p.Ser240Cys Uncertain significance Single submitter
-
DLX3 p.Ser242Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DLX3 p.Ser52Pro Uncertain significance Single submitter
-
DLX3 p.Thr31Ser
Uncertain significance
Single submitter
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- DLX3 p.Trp216Arg Uncertain significance Single submitter
- DLX3 p.Trp216Cys Uncertain significance Single submitter
-
DLX3 p.Tyr237Cys
Conflicting
Single submitter
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- DLX3 p.Tyr243Cys Uncertain significance Single submitter
-
DLX3 p.Tyr50Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Tyr63Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLX3 p.Tyr88Cys
Conflicting
Single submitter
uterine corpus leiomyoma
All DLX3 variants
Pathogenic 2
- p.Gly191fs Multiple submitters Inborn genetic diseases
- p.Arg159Leu No assertion criteria tricho-dento-osseous syndrome
Pathogenic/Likely pathogenic 2
- p.Gln178His Multiple submitters tricho-dento-osseous syndrome
- p.Tyr188fs Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Likely pathogenic 4
- p.Asn179His Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Asn179Lys Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Glu192fs Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Val37fs Single submitter tricho-dento-osseous syndrome
Conflicting classifications of pathogenicity 7
- p.Ala285Thr Single submitter ⚠
- p.Asp28Tyr Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ⚠
- p.Pro247Ser Single submitter Inborn genetic diseases ⚠
- p.Pro266= Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Pro30= Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Tyr237Cys Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ⚠
- p.Tyr88Cys Single submitter uterine corpus leiomyoma ⚠
Benign 33
- c.326-184C>A Multiple submitters
- c.516+23C>T Multiple submitters tricho-dento-osseous syndrome
- c.517-60C>G Multiple submitters
- c.-134C>A Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-189G>T Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-64C>T Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1016G>C Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1300C>G Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1326T>A Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*527G>A Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*60G>A Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*928A>G Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Asp246His Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Pro46= Multiple submitters tricho-dento-osseous syndrome
- p.Thr134= Multiple submitters tricho-dento-osseous syndrome
- c.325+195G>A Single submitter
- c.325+234A>G Single submitter
- c.516+121T>C Single submitter
- c.*1296G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1335C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1410G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*259C>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*494A>G Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*679C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*707C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*723T>G Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*868C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*986C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*987C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Ala90Ser Single submitter
- p.Arg228His Single submitter
- p.Asn72Ser Single submitter
- p.Pro277= Single submitter
Likely benign 53
- p.Gly278Arg Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ⚠
- c.325+14G>A Single submitter
- c.325+20G>A Single submitter
- c.325+7G>A Single submitter
- c.326-17C>G Single submitter
- c.326-19C>T Single submitter
- c.326-20G>A Single submitter
- c.326-20G>T Single submitter
- c.516+15G>C Single submitter
- c.516+17C>A Single submitter
- c.517-18C>T Single submitter
- c.517-19C>A Single submitter
- c.517-19C>G Single submitter
- c.-37C>G Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1328T>G Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Ala105= Single submitter
- p.Ala155= Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Ala275= Single submitter
- p.Asn190= Single submitter
- p.Asn200= Single submitter
- p.Asp245= Single submitter
- p.Gln230= Single submitter
- p.Gln54= Single submitter
- p.Glu196= Single submitter
- p.Gly191= Single submitter
- p.Gly76= Single submitter
- p.Gly78= Single submitter
- p.His221= Single submitter
- p.His48= Single submitter
- p.Ile175= Single submitter
- p.Leu154= Single submitter
- p.Leu195= Single submitter
- p.Leu257= Single submitter
- p.Leu32= Single submitter
- p.Lys128= Single submitter
- p.Lys131= Single submitter
- p.Lys150= Single submitter
- p.Pro115= Single submitter
- p.Pro194= Single submitter
- p.Pro224= Single submitter
- p.Pro233= Single submitter
- p.Pro234= Single submitter
- p.Pro280= Single submitter
- p.Ser138= Single submitter
- p.Ser198= Single submitter
- p.Ser202= Single submitter
- p.Ser212= Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Ser84= Single submitter
- p.Thr169Met Single submitter
- p.Thr218= Single submitter Inborn genetic diseases
- p.Thr271= Single submitter
- p.Tyr243= Single submitter
- p.Val286= Single submitter
Uncertain significance 103
- p.Ala214Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala45Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg146Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg228Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg7Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn200Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn282Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln47Arg Multiple submitters hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ⚠
- p.Gly76Val Multiple submitters Inborn genetic diseases ⚠
- p.His221Leu Multiple submitters Inborn genetic diseases ⚠
- p.Leu244Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro224Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro233Leu Multiple submitters Inborn genetic diseases ⚠
- c.326-15G>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.326-20_326-19delinsTT Single submitter
- c.516+6T>C Single submitter
- c.-121C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-131C>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-131C>G Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-132C>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-135C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-190C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-225G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.-62C>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1025G>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1164A>G Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1167_*1168del Single submitter
- c.*1205A>C Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1224dup Single submitter
- c.*124C>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1252C>G Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1272T>C Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1408G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*1505G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*429C>G Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*437G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*548C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*714C>T Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*726T>C Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*75G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*812G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*821C>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*83G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- c.*988G>A Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- p.Ala254Thr Single submitter Inborn genetic diseases ⚠
- p.Ala275Thr Single submitter ⚠
- p.Arg146Ser Single submitter Inborn genetic diseases ⚠
- p.Arg180Cys Single submitter Inborn genetic diseases ⚠
- p.Arg180His Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Arg99Gln Single submitter Inborn genetic diseases ⚠
- p.Asn249Thr Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ⚠
- p.Asn70Ser Single submitter Inborn genetic diseases ⚠
- p.Asp107Ala Single submitter Inborn genetic diseases ⚠
- p.Asp107Glu Single submitter Inborn genetic diseases ⚠
- p.Asp217Glu Single submitter ⚠
- p.Asp245Gly Single submitter Inborn genetic diseases ⚠
- p.Asp49Gly Single submitter ⚠
- p.Cys22Arg Single submitter Inborn genetic diseases ⚠
- p.Glu118Lys Single submitter Inborn genetic diseases ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu196Gly Single submitter ⚠
- p.Glu34Ter Single submitter
- p.Gly167Cys Single submitter ⚠
- p.Gly191Arg Single submitter ⚠
- p.His23Arg Single submitter ⚠
- p.His23Gln Single submitter Inborn genetic diseases ⚠
- p.His274Pro Single submitter Inborn genetic diseases ⚠
- p.His66Gln Single submitter Inborn genetic diseases ⚠
- p.Ile12Val Single submitter ⚠
- p.Ile175Met Single submitter ⚠
- p.Leu141Val Single submitter Inborn genetic diseases ⚠
- p.Lys131Gln Single submitter ⚠
- p.Pro126Ser Single submitter Inborn genetic diseases ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro279Leu Single submitter Inborn genetic diseases ⚠
- p.Pro280Leu Single submitter Inborn genetic diseases ⚠
- p.Pro280Ser Single submitter Inborn genetic diseases ⚠
- p.Pro30Thr Single submitter ⚠
- p.Pro62Leu Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser10Gly Single submitter ⚠
- p.Ser11Thr Single submitter ⚠
- p.Ser19Asn Single submitter
- p.Ser219Pro Single submitter Inborn genetic diseases ⚠
- p.Ser238Thr Single submitter ⚠
- p.Ser240Cys Single submitter ⚠
- p.Ser242Cys Single submitter Inborn genetic diseases ⚠
- p.Ser242Gly Single submitter Inborn genetic diseases ⚠
- p.Ser52Pro Single submitter ⚠
- p.Thr134Met Single submitter ⚠
- p.Thr31Ser Single submitter hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ⚠
- p.Thr64Ala Single submitter Inborn genetic diseases ⚠
- p.Trp216Arg Single submitter ⚠
- p.Trp216Cys Single submitter ⚠
- p.Tyr188Cys Single submitter ⚠
- p.Tyr243Cys Single submitter ⚠
- p.Tyr50Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr63Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr98Asp Single submitter Inborn genetic diseases ⚠
- p.Val173Ala Single submitter Inborn genetic diseases ⚠
- p.Glu114del No assertion criteria tricho-dento-osseous syndrome