DLX6 — 114 ClinVar variants
All ClinVar germline DLX6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Conflicting · 11 Benign · 29 Likely benign · 73 Uncertain significance
Full DLX6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll DLX6 variants
Conflicting classifications of pathogenicity 1
- p.Gln37_Gln44dup Single submitter
Benign 11
- c.437-85A>C Multiple submitters
- c.*9A>G Multiple submitters
- p.Gln178= Multiple submitters
- p.Pro51_Pro53del Multiple submitters
- p.Pro53dup Multiple submitters
- c.436+16G>A Single submitter
- c.*148TC[9] Single submitter
- p.Gln44del Single submitter
- p.Leu113= Single submitter
- p.Pro53del Single submitter
- p.Ser17= Single submitter
Likely benign 29
- p.Gln35= Multiple submitters
- p.Gln41= Multiple submitters
- p.Pro282= Multiple submitters
- c.437-15A>T Single submitter
- c.630+9C>T Single submitter
- c.631-16G>A Single submitter
- p.Ala114= Single submitter
- p.Ala250= Single submitter
- p.Ala63= Single submitter
- p.Ala83_Gly84insAla Single submitter
- p.Gln31= Single submitter
- p.Gln33= Single submitter
- p.Gln34= Single submitter
- p.Gln43= Single submitter
- p.Gly240= Single submitter
- p.Pro50_Pro53del Single submitter
- p.Ser16= Single submitter
- p.Ser235= Single submitter
- p.Ser248= Single submitter
- p.Ser260= Single submitter
- p.Ser260Leu Single submitter
- p.Ser281Thr Single submitter
- p.Thr286= Single submitter
- p.Ala79= No assertion criteria DLX6-related disorder
- p.Ala80= No assertion criteria DLX6-related disorder
- p.Ala81= No assertion criteria DLX6-related disorder
- p.Ala82= No assertion criteria DLX6-related disorder
- p.Arg111= No assertion criteria DLX6-related disorder
- p.Gly97= No assertion criteria DLX6-related disorder
Uncertain significance 73
- p.Ala242Val Multiple submitters
- p.Ala82Val Multiple submitters
- p.Gln44dup Multiple submitters
- p.Ser241Leu Multiple submitters
- p.Ala136Glu Single submitter
- p.Ala250Thr Single submitter
- p.Ala250Val Single submitter
- p.Ala83_Gly84insAlaAla Single submitter
- p.Ala83Val Single submitter
- p.Asp143His Single submitter
- p.Asp144Asn Single submitter
- p.Asp144His Single submitter
- p.Asp236Asn Single submitter
- p.Asp236Glu Single submitter
- p.Asp236His Single submitter
- p.Gln228His Single submitter
- p.Gln28His Single submitter
- p.Gln30Arg Single submitter
- p.Gln35_Gln44delinsPro Single submitter
- p.Gln35Glu Single submitter
- p.Gln36_Gln44del Single submitter
- p.Gln37_Gln44del Single submitter
- p.Gln38_Gln44del Single submitter
- p.Gln39_Gln44del Single submitter
- p.Gln40_Gln44del Single submitter
- p.Gln41_Gln44del Single submitter
- p.Gln42_Gln44del Single submitter
- p.Gln42His Single submitter
- p.Gln43_Gln44del Single submitter
- p.Gln44_Pro45insGln Single submitter
- p.Gln44_Pro45insGlnGln Single submitter
- p.Gln44_Pro45insGlnGlnGln Single submitter
- p.Gln44_Pro45insGlnGlnGlnGln Single submitter
- p.Gln44_Pro45insGlnGlnGlnGlnGln Single submitter
- p.Gln44_Pro45insGlnGlnGlnGlnGlnGlnGln Single submitter
- p.Gln44_Pro45insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Single submitter
- p.Gln44_Pro45insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Single submitter
- p.Gln44_Pro45insGlnGlnPro Single submitter
- p.Gln54_Pro55del Single submitter
- p.Gly104Ala Single submitter
- p.Gly13Ser Single submitter
- p.Gly142Arg Single submitter
- p.Gly274Arg Single submitter
- p.His132Arg Single submitter
- p.His233Tyr Single submitter
- p.His87Gln Single submitter
- p.His88_His91del Single submitter
- p.His89_His91del Single submitter
- p.His90_His91dup Single submitter
- p.His91del Single submitter
- p.His94_His95insGlnHisHis Single submitter
- p.His96_Gly97insGlnHisHisHisHis Single submitter
- p.His96Tyr Single submitter
- p.Leu128Phe Single submitter
- p.Pro117_Tyr118insSer Single submitter
- p.Pro117Ser Single submitter
- p.Pro249Thr Single submitter
- p.Pro45Gln Single submitter
- p.Pro46Ala Single submitter
- p.Pro49_Pro53dup Single submitter
- p.Pro51_Pro53dup Single submitter
- p.Pro52_Pro53del Single submitter
- p.Pro52_Pro53dup Single submitter
- p.Pro53_Gln54insProProProPro Single submitter
- p.Pro55Ser Single submitter
- p.Pro70Ser Single submitter
- p.Pro99Ser Single submitter
- p.Ser107Phe Single submitter
- p.Ser125Thr Single submitter
- p.Ser130Cys Single submitter
- p.Ser248Leu Single submitter
- p.Ser60Asn Single submitter
- p.Thr286Met Single submitter