DMRT2 — 243 ClinVar variants
All ClinVar germline DMRT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 7 Benign · 48 Likely benign · 184 Uncertain significance
Full DMRT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 174
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.
Predictors lean, ClinVar uncertain 147
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DMRT2 p.Ala112Glu Uncertain significance Multiple submitters
- DMRT2 p.Ala29Ser Uncertain significance Multiple submitters
- DMRT2 p.Asp48Glu Uncertain significance Multiple submitters
- DMRT2 p.Cys105Tyr Uncertain significance Multiple submitters
- DMRT2 p.Gly110Asp Uncertain significance Multiple submitters
- DMRT2 p.Gly36Arg Uncertain significance Multiple submitters
- DMRT2 p.Gly73Arg Uncertain significance Multiple submitters
- DMRT2 p.Gly83Glu Uncertain significance Multiple submitters
- DMRT2 p.Pro101Ser Uncertain significance Multiple submitters
- DMRT2 p.Pro41Ala Uncertain significance Multiple submitters
- DMRT2 p.Pro72Ser Uncertain significance Multiple submitters
- DMRT2 p.Pro84Arg Uncertain significance Multiple submitters
- DMRT2 p.Pro84Thr Uncertain significance Multiple submitters
- DMRT2 p.Ser8Phe Uncertain significance Multiple submitters
- DMRT2 p.Ala10Asp Uncertain significance Single submitter
- DMRT2 p.Ala112Val Uncertain significance Single submitter
- DMRT2 p.Ala191Ser Uncertain significance Single submitter
- DMRT2 p.Ala199Val Uncertain significance Single submitter
- DMRT2 p.Ala216Val Uncertain significance Single submitter
- DMRT2 p.Ala265Thr Uncertain significance Single submitter
- DMRT2 p.Ala266Ser Uncertain significance Single submitter
- DMRT2 p.Ala286Thr Uncertain significance Single submitter
- DMRT2 p.Ala286Val Uncertain significance Single submitter
- DMRT2 p.Ala2Val Uncertain significance Single submitter
- DMRT2 p.Ala422Val Uncertain significance Single submitter
- DMRT2 p.Ala428Thr Uncertain significance Single submitter
- DMRT2 p.Ala495Val Uncertain significance Single submitter
- DMRT2 p.Ala68Thr Uncertain significance Single submitter
- DMRT2 p.Ala6Gly Uncertain significance Single submitter
- DMRT2 p.Arg104Pro Uncertain significance Single submitter
-
DMRT2 p.Arg127Pro
Uncertain significance
Single submitter
DMRT2-related disorder
- DMRT2 p.Arg127Ser Uncertain significance Single submitter
- DMRT2 p.Arg158Leu Uncertain significance Single submitter
- DMRT2 p.Arg212His Uncertain significance Single submitter
- DMRT2 p.Arg31Gly Uncertain significance Single submitter
- DMRT2 p.Arg340Gly Uncertain significance Single submitter
- DMRT2 p.Arg434Gln Uncertain significance Single submitter
- DMRT2 p.Arg558Cys Uncertain significance Single submitter
- DMRT2 p.Asn247Thr Uncertain significance Single submitter
- DMRT2 p.Asn301Lys Uncertain significance Single submitter
- DMRT2 p.Asn511Lys Uncertain significance Single submitter
- DMRT2 p.Asp25Ala Uncertain significance Single submitter
- DMRT2 p.Asp352Asn Uncertain significance Single submitter
- DMRT2 p.Asp3Tyr Uncertain significance Single submitter
- DMRT2 p.Asp43Ala Uncertain significance Single submitter
- DMRT2 p.Asp43Asn Uncertain significance Single submitter
- DMRT2 p.Asp43Val Uncertain significance Single submitter
- DMRT2 p.Asp48Ala Uncertain significance Single submitter
- DMRT2 p.Asp48Tyr Uncertain significance Single submitter
- DMRT2 p.Asp51Gly Uncertain significance Single submitter
- DMRT2 p.Asp524Gly Uncertain significance Single submitter
- DMRT2 p.Asp56Glu Uncertain significance Single submitter
- DMRT2 p.Asp64Glu Uncertain significance Single submitter
- DMRT2 p.Cys123Trp Uncertain significance Single submitter
- DMRT2 p.Gln171Pro Uncertain significance Single submitter
- DMRT2 p.Gln411His Uncertain significance Single submitter
- DMRT2 p.Gln418His Uncertain significance Single submitter
- DMRT2 p.Gln477Lys Uncertain significance Single submitter
- DMRT2 p.Glu157Ala Uncertain significance Single submitter
- DMRT2 p.Glu209Gln Uncertain significance Single submitter
-
DMRT2 p.Glu24Ala
Uncertain significance
Single submitter
gonadal agenesis
- DMRT2 p.Glu390Lys Uncertain significance Single submitter
- DMRT2 p.Glu399Lys Uncertain significance Single submitter
- DMRT2 p.Gly130Ala Uncertain significance Single submitter
- DMRT2 p.Gly130Ser Uncertain significance Single submitter
- DMRT2 p.Gly28Arg Uncertain significance Single submitter
- DMRT2 p.Gly348Asp Uncertain significance Single submitter
- DMRT2 p.Gly380Glu Uncertain significance Single submitter
- DMRT2 p.Gly44Arg Uncertain significance Single submitter
- DMRT2 p.Gly484Val Uncertain significance Single submitter
- DMRT2 p.Gly69Ser Uncertain significance Single submitter
- DMRT2 p.Gly7Arg Uncertain significance Single submitter
- DMRT2 p.Gly83Ala Uncertain significance Single submitter
- DMRT2 p.Gly83Arg Uncertain significance Single submitter
- DMRT2 p.His406Asn Uncertain significance Single submitter
- DMRT2 p.His420Arg Uncertain significance Single submitter
- DMRT2 p.Ile350Met Uncertain significance Single submitter
- DMRT2 p.Ile518Thr Uncertain significance Single submitter
- DMRT2 p.Leu135Gln Uncertain significance Single submitter
- DMRT2 p.Leu168Pro Uncertain significance Single submitter
- DMRT2 p.Leu250Val Uncertain significance Single submitter
- DMRT2 p.Leu445Val Uncertain significance Single submitter
- DMRT2 p.Leu466Val Uncertain significance Single submitter
- DMRT2 p.Leu479Phe Uncertain significance Single submitter
- DMRT2 p.Leu507Ser Uncertain significance Single submitter
- DMRT2 p.Leu525Ile Uncertain significance Single submitter
- DMRT2 p.Lys297Arg Uncertain significance Single submitter
- DMRT2 p.Lys397Ile Uncertain significance Single submitter
- DMRT2 p.Lys509Arg Uncertain significance Single submitter
- DMRT2 p.Met162Ile Uncertain significance Single submitter
- DMRT2 p.Met311Thr Uncertain significance Single submitter
- DMRT2 p.Phe496Val Uncertain significance Single submitter
- DMRT2 p.Pro101Ala Uncertain significance Single submitter
- DMRT2 p.Pro101Arg Uncertain significance Single submitter
- DMRT2 p.Pro101Thr Uncertain significance Single submitter
- DMRT2 p.Pro107Ala Uncertain significance Single submitter
- DMRT2 p.Pro107Ser Uncertain significance Single submitter
- DMRT2 p.Pro114Ser Uncertain significance Single submitter
- DMRT2 p.Pro225Ser Uncertain significance Single submitter
- DMRT2 p.Pro227Leu Uncertain significance Single submitter
- DMRT2 p.Pro35Thr Uncertain significance Single submitter
- DMRT2 p.Pro395Ser Uncertain significance Single submitter
- DMRT2 p.Pro39Ser Uncertain significance Single submitter
- DMRT2 p.Pro408His Uncertain significance Single submitter
- DMRT2 p.Pro41Arg Uncertain significance Single submitter
- DMRT2 p.Pro424Leu Uncertain significance Single submitter
- DMRT2 p.Pro431Ser Uncertain significance Single submitter
- DMRT2 p.Pro432Ser Uncertain significance Single submitter
- DMRT2 p.Pro490Leu Uncertain significance Single submitter
- DMRT2 p.Pro4Arg Uncertain significance Single submitter
- DMRT2 p.Pro552Thr Uncertain significance Single submitter
- DMRT2 p.Pro72Arg Uncertain significance Single submitter
- DMRT2 p.Pro78Ala Uncertain significance Single submitter
- DMRT2 p.Pro88Ala Uncertain significance Single submitter
- DMRT2 p.Pro88Arg Uncertain significance Single submitter
- DMRT2 p.Pro89Ser Uncertain significance Single submitter
- DMRT2 p.Pro92Ser Uncertain significance Single submitter
- DMRT2 p.Pro96Ala Uncertain significance Single submitter
- DMRT2 p.Pro96His Uncertain significance Single submitter
- DMRT2 p.Ser133Thr Uncertain significance Single submitter
- DMRT2 p.Ser181Cys Uncertain significance Single submitter
- DMRT2 p.Ser288Asn Uncertain significance Single submitter
- DMRT2 p.Ser316Pro Uncertain significance Single submitter
- DMRT2 p.Ser323Cys Uncertain significance Single submitter
- DMRT2 p.Ser351Asn Uncertain significance Single submitter
- DMRT2 p.Ser38Arg Uncertain significance Single submitter
- DMRT2 p.Ser415Arg Uncertain significance Single submitter
- DMRT2 p.Ser536Leu Uncertain significance Single submitter
- DMRT2 p.Ser554Pro Uncertain significance Single submitter
- DMRT2 p.Ser560Cys Uncertain significance Single submitter
- DMRT2 p.Ser71Phe Uncertain significance Single submitter
- DMRT2 p.Thr262Ile Uncertain significance Single submitter
- DMRT2 p.Thr353Asn Uncertain significance Single submitter
- DMRT2 p.Thr365Ala Uncertain significance Single submitter
- DMRT2 p.Thr407Ala Uncertain significance Single submitter
- DMRT2 p.Thr453Ala Uncertain significance Single submitter
- DMRT2 p.Thr453Lys Uncertain significance Single submitter
- DMRT2 p.Thr480Ser Uncertain significance Single submitter
- DMRT2 p.Thr533Lys Uncertain significance Single submitter
- DMRT2 p.Thr557Ser Uncertain significance Single submitter
- DMRT2 p.Tyr254Cys Uncertain significance Single submitter
- DMRT2 p.Val292Ala Uncertain significance Single submitter
- DMRT2 p.Val367Leu Uncertain significance Single submitter
- DMRT2 p.Val367Phe Uncertain significance Single submitter
- DMRT2 p.Val423Ile Uncertain significance Single submitter
- DMRT2 p.Val531Ile Uncertain significance Single submitter
-
DMRT2 p.Ala286Pro
Uncertain significance
No assertion criteria
DMRT2-related disorder
Predictors split 25
The independent predictors disagree with each other — read with care.
- DMRT2 p.Asp176Gly Uncertain significance Multiple submitters
- DMRT2 p.Asp49His Benign Multiple submitters
- DMRT2 p.Glu60Gln Uncertain significance Multiple submitters
- DMRT2 p.Ala150Thr Uncertain significance Single submitter
- DMRT2 p.Ala241Thr Uncertain significance Single submitter
- DMRT2 p.Arg115Gly Uncertain significance Single submitter
- DMRT2 p.Arg189Leu Uncertain significance Single submitter
- DMRT2 p.Asp146Glu Uncertain significance Single submitter
- DMRT2 p.Asp176Asn Uncertain significance Single submitter
- DMRT2 p.Asp176Glu Uncertain significance Single submitter
- DMRT2 p.Asp232Val Uncertain significance Single submitter
- DMRT2 p.Asp352Ala Uncertain significance Single submitter
- DMRT2 p.Asp51His Uncertain significance Single submitter
- DMRT2 p.Asp53His Uncertain significance Single submitter
- DMRT2 p.Cys306Phe Uncertain significance Single submitter
- DMRT2 p.Glu175Lys Uncertain significance Single submitter
- DMRT2 p.Glu18Gln Uncertain significance Single submitter
- DMRT2 p.Glu60Lys Uncertain significance Single submitter
- DMRT2 p.Lys122Asn Uncertain significance Single submitter
- DMRT2 p.Phe299Leu Uncertain significance Single submitter
- DMRT2 p.Pro200His Uncertain significance Single submitter
- DMRT2 p.Pro40Gln Uncertain significance Single submitter
- DMRT2 p.Pro40Leu Uncertain significance Single submitter
- DMRT2 p.Ser327Arg Uncertain significance Single submitter
- DMRT2 p.Ser327Ile Uncertain significance Single submitter
All DMRT2 variants
Pathogenic 1
- p.Met1Leu No assertion criteria
Likely pathogenic 1
- p.Asp43fs Single submitter spondylocostal dysostosis 7, autosomal recessive
Conflicting classifications of pathogenicity 2
- p.Asn272Ser Single submitter ⚠
- p.Pro86Gln Single submitter ⚠
Benign 7
- p.Arg382Gln Multiple submitters
- p.Asp49His Multiple submitters ⚠
- p.Pro271Ala Multiple submitters
- p.Pro34Thr Multiple submitters
- p.Thr106Ser Multiple submitters
- p.Thr99= Multiple submitters
- p.Leu154= Single submitter
Likely benign 48
- c.525+11G>T Single submitter
- c.525+16G>T Single submitter
- c.628+10C>A Single submitter
- c.628+10C>G Single submitter
- c.629-466T>C Single submitter
- c.629-481A>G Single submitter
- c.629-484A>T Single submitter
- c.629-490C>T Single submitter
- c.629-493T>C Single submitter
- c.629-512C>G Single submitter
- p.Ala124= Single submitter
- p.Ala150Ser Single submitter
- p.Ala70= Single submitter
- p.Ala9= Single submitter
- p.Ala97Ser Single submitter
- p.Arg158= Single submitter
- p.Arg198= Single submitter
- p.Arg31= Single submitter
- p.Arg81= Single submitter
- p.Asn281Ser Single submitter
- p.Asp25= Single submitter
- p.Asp279Glu Single submitter
- p.Asp45= Single submitter
- p.Asp52= Single submitter
- p.Cys126= Single submitter
- p.Glu79= Single submitter
- p.Gly11= Single submitter
- p.Gly137= Single submitter
- p.Gly76= Single submitter
- p.Gly82= Single submitter
- p.Leu117= Single submitter
- p.Leu168= Single submitter
- p.Lys139= Single submitter
- p.Pro107= Single submitter
- p.Pro121= Single submitter
- p.Pro30= Single submitter
- p.Pro41= Single submitter
- p.Pro75= Single submitter
- p.Pro84= Single submitter
- p.Ser118= Single submitter
- p.Ser181= Single submitter
- p.Ser396Pro Single submitter
- p.Thr174= Single submitter
- p.Asn247= No assertion criteria DMRT2-related disorder
- p.Gly221= No assertion criteria DMRT2-related disorder
- p.Ser396Leu No assertion criteria DMRT2-related disorder
- p.Ser430= No assertion criteria DMRT2-related disorder
- p.Thr557Ala No assertion criteria DMRT2-related disorder
Uncertain significance 184
- p.Ala112Glu Multiple submitters ⚠
- p.Ala29Ser Multiple submitters ⚠
- p.Asp176Gly Multiple submitters ⚠
- p.Asp48Glu Multiple submitters ⚠
- p.Cys105Tyr Multiple submitters ⚠
- p.Glu60Gln Multiple submitters ⚠
- p.Gly110Asp Multiple submitters ⚠
- p.Gly36Arg Multiple submitters ⚠
- p.Gly73Arg Multiple submitters ⚠
- p.Gly83Glu Multiple submitters ⚠
- p.Pro101Ser Multiple submitters ⚠
- p.Pro41Ala Multiple submitters ⚠
- p.Pro72Ser Multiple submitters ⚠
- p.Pro84Arg Multiple submitters ⚠
- p.Pro84Thr Multiple submitters ⚠
- p.Ser8Phe Multiple submitters ⚠
- c.629-465G>T Single submitter
- c.629-476A>G Single submitter
- c.629-492C>A Single submitter
- p.Ala10Asp Single submitter ⚠
- p.Ala112Val Single submitter ⚠
- p.Ala150Thr Single submitter ⚠
- p.Ala191Ser Single submitter ⚠
- p.Ala199Val Single submitter ⚠
- p.Ala216Val Single submitter ⚠
- p.Ala241Thr Single submitter ⚠
- p.Ala265Thr Single submitter ⚠
- p.Ala266Ser Single submitter ⚠
- p.Ala286Thr Single submitter ⚠
- p.Ala286Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala422Val Single submitter ⚠
- p.Ala428Thr Single submitter ⚠
- p.Ala495Val Single submitter ⚠
- p.Ala68Thr Single submitter ⚠
- p.Ala6Gly Single submitter ⚠
- p.Arg104Pro Single submitter ⚠
- p.Arg115Gly Single submitter ⚠
- p.Arg127Pro Single submitter DMRT2-related disorder ⚠
- p.Arg127Ser Single submitter ⚠
- p.Arg158Leu Single submitter ⚠
- p.Arg189Leu Single submitter ⚠
- p.Arg212His Single submitter ⚠
- p.Arg31Gly Single submitter ⚠
- p.Arg340Gly Single submitter ⚠
- p.Arg434Gln Single submitter ⚠
- p.Arg558Cys Single submitter ⚠
- p.Arg81fs Single submitter
- p.Asn247Thr Single submitter ⚠
- p.Asn301Lys Single submitter ⚠
- p.Asn511Lys Single submitter ⚠
- p.Asp146Glu Single submitter ⚠
- p.Asp176Asn Single submitter ⚠
- p.Asp176Glu Single submitter ⚠
- p.Asp232Val Single submitter ⚠
- p.Asp25Ala Single submitter ⚠
- p.Asp352Ala Single submitter ⚠
- p.Asp352Asn Single submitter ⚠
- p.Asp3Tyr Single submitter ⚠
- p.Asp43Ala Single submitter ⚠
- p.Asp43Asn Single submitter ⚠
- p.Asp43Val Single submitter ⚠
- p.Asp48Ala Single submitter ⚠
- p.Asp48Tyr Single submitter ⚠
- p.Asp51Gly Single submitter ⚠
- p.Asp51His Single submitter ⚠
- p.Asp524Gly Single submitter ⚠
- p.Asp53His Single submitter ⚠
- p.Asp56Glu Single submitter ⚠
- p.Asp64Glu Single submitter ⚠
- p.Cys123Trp Single submitter ⚠
- p.Cys134Ter Single submitter
- p.Cys306Phe Single submitter ⚠
- p.Gln171Pro Single submitter ⚠
- p.Gln411His Single submitter ⚠
- p.Gln418His Single submitter ⚠
- p.Gln477Lys Single submitter ⚠
- p.Glu157Ala Single submitter ⚠
- p.Glu175Lys Single submitter ⚠
- p.Glu18Gln Single submitter ⚠
- p.Glu209Gln Single submitter ⚠
- p.Glu24Ala Single submitter gonadal agenesis ⚠
- p.Glu390Lys Single submitter ⚠
- p.Glu399Lys Single submitter ⚠
- p.Glu60Lys Single submitter ⚠
- p.Glu62del Single submitter
- p.Gly130Ala Single submitter ⚠
- p.Gly130Ser Single submitter ⚠
- p.Gly28Arg Single submitter ⚠
- p.Gly348Asp Single submitter ⚠
- p.Gly380Glu Single submitter ⚠
- p.Gly44Arg Single submitter ⚠
- p.Gly484Val Single submitter ⚠
- p.Gly69= Single submitter
- p.Gly69Ser Single submitter ⚠
- p.Gly7Arg Single submitter ⚠
- p.Gly83Ala Single submitter ⚠
- p.Gly83Arg Single submitter ⚠
- p.His406Asn Single submitter ⚠
- p.His420Arg Single submitter ⚠
- p.Ile350Met Single submitter ⚠
- p.Ile518Thr Single submitter ⚠
- p.Leu135Gln Single submitter ⚠
- p.Leu168_Arg169= Single submitter
- p.Leu168Pro Single submitter ⚠
- p.Leu250Val Single submitter ⚠
- p.Leu445Val Single submitter ⚠
- p.Leu466Val Single submitter ⚠
- p.Leu479Phe Single submitter ⚠
- p.Leu507Ser Single submitter ⚠
- p.Leu525Ile Single submitter ⚠
- p.Lys122Asn Single submitter ⚠
- p.Lys297Arg Single submitter ⚠
- p.Lys397Ile Single submitter ⚠
- p.Lys509Arg Single submitter ⚠
- p.Met162Ile Single submitter ⚠
- p.Met311Thr Single submitter ⚠
- p.Phe299Leu Single submitter ⚠
- p.Phe496Val Single submitter ⚠
- p.Pro101Ala Single submitter ⚠
- p.Pro101Arg Single submitter ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro107Ala Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro114Ser Single submitter ⚠
- p.Pro200His Single submitter ⚠
- p.Pro225Ser Single submitter ⚠
- p.Pro227Leu Single submitter ⚠
- p.Pro35Thr Single submitter ⚠
- p.Pro395Ser Single submitter ⚠
- p.Pro39Ser Single submitter ⚠
- p.Pro408His Single submitter ⚠
- p.Pro40Gln Single submitter ⚠
- p.Pro40Leu Single submitter ⚠
- p.Pro41Arg Single submitter ⚠
- p.Pro424Leu Single submitter ⚠
- p.Pro431Ser Single submitter ⚠
- p.Pro432Ser Single submitter ⚠
- p.Pro490Leu Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Pro552Thr Single submitter ⚠
- p.Pro72Arg Single submitter ⚠
- p.Pro78Ala Single submitter ⚠
- p.Pro88Ala Single submitter ⚠
- p.Pro88Arg Single submitter ⚠
- p.Pro89Ser Single submitter ⚠
- p.Pro92Ser Single submitter ⚠
- p.Pro96Ala Single submitter ⚠
- p.Pro96His Single submitter ⚠
- p.Ser133Thr Single submitter ⚠
- p.Ser181Cys Single submitter ⚠
- p.Ser206fs Single submitter
- p.Ser288Asn Single submitter ⚠
- p.Ser316Pro Single submitter ⚠
- p.Ser323Cys Single submitter ⚠
- p.Ser327Arg Single submitter ⚠
- p.Ser327Ile Single submitter ⚠
- p.Ser351Asn Single submitter ⚠
- p.Ser38_Pro39delinsArgSer Single submitter
- p.Ser38Arg Single submitter ⚠
- p.Ser415Arg Single submitter ⚠
- p.Ser536Leu Single submitter ⚠
- p.Ser554Pro Single submitter ⚠
- p.Ser560Cys Single submitter ⚠
- p.Ser71Phe Single submitter ⚠
- p.Thr262Ile Single submitter ⚠
- p.Thr353Asn Single submitter ⚠
- p.Thr365Ala Single submitter ⚠
- p.Thr407Ala Single submitter ⚠
- p.Thr453Ala Single submitter ⚠
- p.Thr453Lys Single submitter ⚠
- p.Thr480Ser Single submitter ⚠
- p.Thr533Lys Single submitter ⚠
- p.Thr557Ser Single submitter ⚠
- p.Tyr254Cys Single submitter ⚠
- p.Tyr335Asn Single submitter
- p.Tyr356Cys Single submitter
- p.Val292Ala Single submitter ⚠
- p.Val367Leu Single submitter ⚠
- p.Val367Phe Single submitter ⚠
- p.Val423Ile Single submitter ⚠
- p.Val531Ile Single submitter ⚠
- p.Ala286Pro No assertion criteria DMRT2-related disorder ⚠
- p.Pro41_Ala42insPro No assertion criteria DMRT2-related disorder