DLX4 — 62 ClinVar variants
All ClinVar germline DLX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Benign · 1 Benign/Likely benign · 11 Likely benign · 49 Uncertain significance
Full DLX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DLX4 p.Ala77Thr Uncertain significance Multiple submitters
- DLX4 p.Leu201His Uncertain significance Multiple submitters
- DLX4 p.Ala143Val Uncertain significance Single submitter
- DLX4 p.Ala30Thr Uncertain significance Single submitter
- DLX4 p.Ala63Val Uncertain significance Single submitter
- DLX4 p.Arg108Gly Uncertain significance Single submitter
- DLX4 p.Asp186Tyr Uncertain significance Single submitter
- DLX4 p.Gln111Glu Uncertain significance Single submitter
- DLX4 p.Gln73Arg Uncertain significance Single submitter
- DLX4 p.Glu93Gln Uncertain significance Single submitter
- DLX4 p.Gly155Ala Uncertain significance Single submitter
- DLX4 p.Gly155Ser Uncertain significance Single submitter
- DLX4 p.Gly84Arg Uncertain significance Single submitter
- DLX4 p.Leu156Phe Uncertain significance Single submitter
- DLX4 p.Leu204His Uncertain significance Single submitter
- DLX4 p.Leu207Val Uncertain significance Single submitter
- DLX4 p.Leu35Ser Uncertain significance Single submitter
- DLX4 p.Pro103Ala Uncertain significance Single submitter
- DLX4 p.Pro199Leu Uncertain significance Single submitter
- DLX4 p.Pro37Arg Uncertain significance Single submitter
- DLX4 p.Pro37Leu Uncertain significance Single submitter
- DLX4 p.Pro43Arg Uncertain significance Single submitter
- DLX4 p.Pro65Arg Uncertain significance Single submitter
- DLX4 p.Ser48Thr Uncertain significance Single submitter
- DLX4 p.Thr157Ile Uncertain significance Single submitter
- DLX4 p.Thr159Ile Uncertain significance Single submitter
- DLX4 p.Thr212Asn Uncertain significance Single submitter
- DLX4 p.Val17Leu Uncertain significance Single submitter
-
DLX4 p.Pro110Ser
Uncertain significance
No assertion criteria
DLX4-related disorder
Predictors split 18
The independent predictors disagree with each other — read with care.
- DLX4 p.Ser203Thr Uncertain significance Multiple submitters
- DLX4 p.Ala210Glu Uncertain significance Single submitter
- DLX4 p.Arg100Trp Uncertain significance Single submitter
- DLX4 p.Asn133Ser Uncertain significance Single submitter
- DLX4 p.Gln153His Uncertain significance Single submitter
- DLX4 p.Gly223Arg Uncertain significance Single submitter
- DLX4 p.Lys119Arg Uncertain significance Single submitter
- DLX4 p.Lys177Arg Uncertain significance Single submitter
- DLX4 p.Pro196Leu Uncertain significance Single submitter
- DLX4 p.Pro23Arg Uncertain significance Single submitter
- DLX4 p.Pro32Leu Uncertain significance Single submitter
- DLX4 p.Pro81Thr Uncertain significance Single submitter
- DLX4 p.Pro99Leu Uncertain significance Single submitter
- DLX4 p.Ser193Phe Uncertain significance Single submitter
- DLX4 p.Ser96Trp Uncertain significance Single submitter
- DLX4 p.Tyr47His Uncertain significance Single submitter
- DLX4 p.Val161Ile Uncertain significance Single submitter
-
DLX4 p.Pro25Arg
Likely benign
No assertion criteria
DLX4-related disorder
All DLX4 variants
Benign 1
- p.Thr157= Single submitter
Benign/Likely benign 1
- p.Ser68= Multiple submitters orofacial cleft 15
Likely benign 11
- p.Ala94= Multiple submitters
- p.Arg135Pro Multiple submitters
- p.Gly182= Single submitter
- p.Ile123= Single submitter
- p.Pro199= Single submitter
- c.284-31G>A No assertion criteria DLX4-related disorder
- p.Ala77= No assertion criteria DLX4-related disorder
- p.Arg169= No assertion criteria DLX4-related disorder
- p.Leu154= No assertion criteria DLX4-related disorder
- p.Pro145= No assertion criteria DLX4-related disorder
- p.Pro25Arg No assertion criteria DLX4-related disorder ⚠
Uncertain significance 49
- p.Ala77Thr Multiple submitters ⚠
- p.Leu201His Multiple submitters ⚠
- p.Ser203Thr Multiple submitters ⚠
- p.Ala143Val Single submitter ⚠
- p.Ala210Glu Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Arg100Trp Single submitter ⚠
- p.Arg108Gly Single submitter ⚠
- p.Asn133Ser Single submitter ⚠
- p.Asp186Tyr Single submitter ⚠
- p.Gln111Glu Single submitter ⚠
- p.Gln153His Single submitter ⚠
- p.Gln183fs Single submitter orofacial cleft 15
- p.Gln73Arg Single submitter ⚠
- p.Glu93Gln Single submitter ⚠
- p.Gly155Ala Single submitter ⚠
- p.Gly155Ser Single submitter ⚠
- p.Gly223Arg Single submitter ⚠
- p.Gly84Arg Single submitter ⚠
- p.Leu156Phe Single submitter ⚠
- p.Leu204His Single submitter ⚠
- p.Leu207Val Single submitter ⚠
- p.Leu35Ser Single submitter ⚠
- p.Lys119Arg Single submitter ⚠
- p.Lys177Arg Single submitter ⚠
- p.Pro103Ala Single submitter ⚠
- p.Pro196Leu Single submitter ⚠
- p.Pro199Leu Single submitter ⚠
- p.Pro23Arg Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Pro37Arg Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Pro43Arg Single submitter ⚠
- p.Pro65Arg Single submitter ⚠
- p.Pro81Thr Single submitter ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser193Phe Single submitter ⚠
- p.Ser48Thr Single submitter ⚠
- p.Ser96Trp Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Thr159Ile Single submitter ⚠
- p.Thr212Asn Single submitter ⚠
- p.Tyr47His Single submitter ⚠
- p.Val161Ile Single submitter ⚠
- p.Val17Leu Single submitter ⚠
- p.Gln134_Arg135delinsHisSer No assertion criteria
- p.Leu204_Trp205delinsHisArg No assertion criteria
- p.Pro110Ser No assertion criteria DLX4-related disorder ⚠