DENND5B — 194 ClinVar variants
All ClinVar germline DENND5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →
1 Pathogenic/Likely pathogenic · 23 Likely benign · 170 Uncertain significance
Full DENND5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 160
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DENND5B p.His852Tyr
Pathogenic/Likely pathogenic
Multiple submitters
DENND5B-related neurodevelopmental disorder
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DENND5B p.Glu381Lys Uncertain significance Multiple submitters
- DENND5B p.Pro237Ser Uncertain significance Multiple submitters
- DENND5B p.Ala1051Gly Uncertain significance Single submitter
- DENND5B p.Ala1230Val Uncertain significance Single submitter
- DENND5B p.Ala32Gly Uncertain significance Single submitter
- DENND5B p.Ala455Thr Uncertain significance Single submitter
- DENND5B p.Ala461Gly Uncertain significance Single submitter
- DENND5B p.Ala507Val Uncertain significance Single submitter
- DENND5B p.Ala603Val Uncertain significance Single submitter
- DENND5B p.Ala620Thr Uncertain significance Single submitter
- DENND5B p.Ala664Thr Uncertain significance Single submitter
- DENND5B p.Ala708Thr Uncertain significance Single submitter
- DENND5B p.Arg1061Gln Uncertain significance Single submitter
- DENND5B p.Arg1143Cys Uncertain significance Single submitter
- DENND5B p.Arg1143His Uncertain significance Single submitter
- DENND5B p.Arg1143Leu Uncertain significance Single submitter
- DENND5B p.Arg1216His Uncertain significance Single submitter
- DENND5B p.Arg1233Gln Uncertain significance Single submitter
- DENND5B p.Arg20Cys Uncertain significance Single submitter
- DENND5B p.Arg243Trp Uncertain significance Single submitter
- DENND5B p.Arg587Gly Uncertain significance Single submitter
- DENND5B p.Arg607Gln Uncertain significance Single submitter
-
DENND5B p.Arg701Gly
Uncertain significance
Single submitter
DENND5B-related neurodevelopmental disorder
- DENND5B p.Arg749Cys Uncertain significance Single submitter
-
DENND5B p.Arg749His
Uncertain significance
Single submitter
DENND5B-related neurodevelopmental disorder
- DENND5B p.Asn1088Ser Uncertain significance Single submitter
- DENND5B p.Asn1198Lys Uncertain significance Single submitter
- DENND5B p.Asn1248Ser Uncertain significance Single submitter
- DENND5B p.Asn366Thr Uncertain significance Single submitter
- DENND5B p.Asn388Ser Uncertain significance Single submitter
- DENND5B p.Asn430Ser Uncertain significance Single submitter
- DENND5B p.Asn889Asp Uncertain significance Single submitter
- DENND5B p.Asp1273His Uncertain significance Single submitter
- DENND5B p.Asp542Asn Uncertain significance Single submitter
- DENND5B p.Asp542Gly Uncertain significance Single submitter
- DENND5B p.Asp661Asn Uncertain significance Single submitter
- DENND5B p.Cys129Ser Uncertain significance Single submitter
- DENND5B p.Cys488Tyr Uncertain significance Single submitter
- DENND5B p.Gln1220Arg Uncertain significance Single submitter
- DENND5B p.Gln202Lys Uncertain significance Single submitter
- DENND5B p.Gln647Glu Uncertain significance Single submitter
- DENND5B p.Gln730Arg Uncertain significance Single submitter
- DENND5B p.Gln91Arg Uncertain significance Single submitter
- DENND5B p.Glu1040Val Uncertain significance Single submitter
- DENND5B p.Glu364Gly Uncertain significance Single submitter
- DENND5B p.Glu395Gly Uncertain significance Single submitter
- DENND5B p.Glu625Lys Uncertain significance Single submitter
- DENND5B p.Glu774Gly Uncertain significance Single submitter
- DENND5B p.Glu979Gly Uncertain significance Single submitter
- DENND5B p.Gly1019Glu Uncertain significance Single submitter
- DENND5B p.Gly1115Arg Uncertain significance Single submitter
- DENND5B p.Gly249Val Uncertain significance Single submitter
- DENND5B p.His690Arg Uncertain significance Single submitter
- DENND5B p.His693Pro Uncertain significance Single submitter
- DENND5B p.His791Tyr Uncertain significance Single submitter
- DENND5B p.Ile1017Val Uncertain significance Single submitter
- DENND5B p.Ile195Val Uncertain significance Single submitter
- DENND5B p.Ile372Thr Uncertain significance Single submitter
- DENND5B p.Ile610Val Uncertain significance Single submitter
- DENND5B p.Ile636Val Uncertain significance Single submitter
- DENND5B p.Ile807Val Uncertain significance Single submitter
- DENND5B p.Ile847Thr Uncertain significance Single submitter
- DENND5B p.Leu1056Pro Uncertain significance Single submitter
- DENND5B p.Leu170Ile Uncertain significance Single submitter
- DENND5B p.Leu628Met Uncertain significance Single submitter
- DENND5B p.Leu696Pro Uncertain significance Single submitter
- DENND5B p.Leu785Gln Uncertain significance Single submitter
- DENND5B p.Lys1157Ile Uncertain significance Single submitter
- DENND5B p.Lys190Glu Uncertain significance Single submitter
- DENND5B p.Lys644Arg Uncertain significance Single submitter
- DENND5B p.Met566Ile Uncertain significance Single submitter
- DENND5B p.Met705Leu Uncertain significance Single submitter
- DENND5B p.Met755Leu Uncertain significance Single submitter
- DENND5B p.Met971Val Uncertain significance Single submitter
- DENND5B p.Phe654Cys Uncertain significance Single submitter
- DENND5B p.Pro237His Uncertain significance Single submitter
- DENND5B p.Pro265Arg Uncertain significance Single submitter
- DENND5B p.Pro384Ala Uncertain significance Single submitter
- DENND5B p.Pro64Ser Uncertain significance Single submitter
- DENND5B p.Ser1068Thr Uncertain significance Single submitter
- DENND5B p.Ser1181Ala Uncertain significance Single submitter
- DENND5B p.Ser1238Gly Uncertain significance Single submitter
- DENND5B p.Ser178Cys Uncertain significance Single submitter
- DENND5B p.Ser675Asn Uncertain significance Single submitter
-
DENND5B p.Ser800Leu
Uncertain significance
Single submitter
DENND5B-related neurodevelopmental disorder
- DENND5B p.Thr1070Ile Uncertain significance Single submitter
- DENND5B p.Thr112Ile Uncertain significance Single submitter
- DENND5B p.Thr1184Asn Uncertain significance Single submitter
- DENND5B p.Thr1213Ser Uncertain significance Single submitter
- DENND5B p.Thr168Ala Uncertain significance Single submitter
- DENND5B p.Thr841Met Uncertain significance Single submitter
- DENND5B p.Thr933Ala Uncertain significance Single submitter
-
DENND5B p.Trp803Leu
Uncertain significance
Single submitter
DENND5B-related neurodevelopmental disorder
- DENND5B p.Tyr136His Uncertain significance Single submitter
- DENND5B p.Tyr179Cys Uncertain significance Single submitter
- DENND5B p.Tyr228Cys Uncertain significance Single submitter
- DENND5B p.Val1057Leu Uncertain significance Single submitter
- DENND5B p.Val1119Leu Uncertain significance Single submitter
- DENND5B p.Val1175Ile Uncertain significance Single submitter
- DENND5B p.Val601Ile Uncertain significance Single submitter
- DENND5B p.Val941Met Uncertain significance Single submitter
Predictors split 58
The independent predictors disagree with each other — read with care.
- DENND5B p.Val26Met Uncertain significance Multiple submitters
- DENND5B p.Ala1239Ser Likely benign Single submitter
- DENND5B p.Ala61Thr Uncertain significance Single submitter
- DENND5B p.Arg1023Gly Uncertain significance Single submitter
- DENND5B p.Arg1061Trp Uncertain significance Single submitter
- DENND5B p.Arg1244Cys Uncertain significance Single submitter
- DENND5B p.Arg20His Uncertain significance Single submitter
- DENND5B p.Arg272Trp Uncertain significance Single submitter
- DENND5B p.Arg305Cys Uncertain significance Single submitter
- DENND5B p.Arg509Cys Likely benign Single submitter
- DENND5B p.Arg560Cys Uncertain significance Single submitter
- DENND5B p.Arg587Trp Uncertain significance Single submitter
- DENND5B p.Arg676Trp Uncertain significance Single submitter
- DENND5B p.Arg682His Uncertain significance Single submitter
- DENND5B p.Arg683Gly Uncertain significance Single submitter
- DENND5B p.Arg683Thr Uncertain significance Single submitter
- DENND5B p.Arg688Ser Uncertain significance Single submitter
- DENND5B p.Arg904Cys Uncertain significance Single submitter
- DENND5B p.Arg909Gly Uncertain significance Single submitter
- DENND5B p.Asn45Ile Uncertain significance Single submitter
- DENND5B p.Asn508Asp Uncertain significance Single submitter
- DENND5B p.Asp1170His Uncertain significance Single submitter
- DENND5B p.Asp391Gly Uncertain significance Single submitter
- DENND5B p.Asp661Tyr Uncertain significance Single submitter
-
DENND5B p.Asp849Glu
Uncertain significance
Single submitter
DENND5B-related neurodevelopmental disorder
- DENND5B p.Asp96His Uncertain significance Single submitter
- DENND5B p.Gln1206His Uncertain significance Single submitter
- DENND5B p.Glu1237Gly Uncertain significance Single submitter
- DENND5B p.Gly11Val Uncertain significance Single submitter
- DENND5B p.Gly260Glu Uncertain significance Single submitter
- DENND5B p.Gly409Ser Uncertain significance Single submitter
- DENND5B p.Gly435Asp Uncertain significance Single submitter
- DENND5B p.Gly450Val Uncertain significance Single submitter
- DENND5B p.Gly653Arg Uncertain significance Single submitter
- DENND5B p.His375Asp Uncertain significance Single submitter
- DENND5B p.His757Tyr Uncertain significance Single submitter
- DENND5B p.Ile1042Val Uncertain significance Single submitter
- DENND5B p.Ile405Met Uncertain significance Single submitter
- DENND5B p.Leu1268Phe Uncertain significance Single submitter
- DENND5B p.Lys246Ile Uncertain significance Single submitter
- DENND5B p.Lys449Asn Uncertain significance Single submitter
- DENND5B p.Lys574Arg Uncertain significance Single submitter
- DENND5B p.Lys595Thr Uncertain significance Single submitter
- DENND5B p.Lys884Glu Uncertain significance Single submitter
- DENND5B p.Met79Val Uncertain significance Single submitter
- DENND5B p.Pro10Arg Uncertain significance Single submitter
- DENND5B p.Pro407Leu Uncertain significance Single submitter
- DENND5B p.Ser14Cys Uncertain significance Single submitter
- DENND5B p.Ser262Ile Uncertain significance Single submitter
-
DENND5B p.Ser559Leu
Uncertain significance
Single submitter
DENND5B-related neurodevelopmental disorder
- DENND5B p.Ser857Gly Uncertain significance Single submitter
- DENND5B p.Ser87Ala Uncertain significance Single submitter
- DENND5B p.Tyr120Cys Uncertain significance Single submitter
- DENND5B p.Tyr299Ser Uncertain significance Single submitter
- DENND5B p.Val1189Ile Uncertain significance Single submitter
- DENND5B p.Val250Ala Uncertain significance Single submitter
- DENND5B p.Val342Leu Uncertain significance Single submitter
- DENND5B p.Val752Leu Uncertain significance Single submitter
All DENND5B variants
Pathogenic/Likely pathogenic 1
- p.His852Tyr Multiple submitters DENND5B-related neurodevelopmental disorder ⚠
Likely benign 23
- c.128-4539A>G Single submitter
- c.128-4544A>C Single submitter
- c.128-4547C>T Single submitter
- c.3642-8G>A Single submitter
- p.Ala1051Val Single submitter
- p.Ala1239Ser Single submitter ⚠
- p.Arg509Cys Single submitter ⚠
- p.Arg843Ser Single submitter neurodevelopmental disorder
- p.His336Tyr Single submitter
- p.Ile1155Val Single submitter
- p.Ile610Met Single submitter
- p.Leu411= Single submitter
- p.Leu826= Single submitter
- p.Lys1032= Single submitter
- p.Lys470Arg Single submitter
- p.Met838Thr Single submitter
- p.Phe200Leu Single submitter
- p.Ser940= Single submitter
- p.Thr1049Ala Single submitter
- p.Thr770= Single submitter
- p.Thr92Met Single submitter
- p.Val674Ile Single submitter
- p.Val970Ile Single submitter
Uncertain significance 170
- p.Glu381Lys Multiple submitters ⚠
- p.Pro237Ser Multiple submitters ⚠
- p.Val26Met Multiple submitters ⚠
- c.128-3722A>C Single submitter
- c.1861+2T>A Single submitter
- c.237+3A>G Single submitter
- c.237+5G>T Single submitter
- c.2803+1G>A Single submitter
- p.Ala1051Gly Single submitter ⚠
- p.Ala1230Val Single submitter ⚠
- p.Ala32Gly Single submitter ⚠
- p.Ala455Thr Single submitter ⚠
- p.Ala461Gly Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Ala603Val Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Ala620Thr Single submitter ⚠
- p.Ala664Thr Single submitter ⚠
- p.Ala708Thr Single submitter ⚠
- p.Arg1023Gly Single submitter ⚠
- p.Arg1061Gln Single submitter ⚠
- p.Arg1061Trp Single submitter ⚠
- p.Arg1143Cys Single submitter ⚠
- p.Arg1143His Single submitter ⚠
- p.Arg1143Leu Single submitter ⚠
- p.Arg1216His Single submitter ⚠
- p.Arg1233Gln Single submitter ⚠
- p.Arg1242Ter Single submitter
- p.Arg1244Cys Single submitter ⚠
- p.Arg175Ter Single submitter
- p.Arg20Cys Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg243Trp Single submitter ⚠
- p.Arg272Trp Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Arg560Cys Single submitter ⚠
- p.Arg587Gly Single submitter ⚠
- p.Arg587Trp Single submitter ⚠
- p.Arg607Gln Single submitter ⚠
- p.Arg676Trp Single submitter ⚠
- p.Arg682His Single submitter ⚠
- p.Arg683Gly Single submitter ⚠
- p.Arg683Thr Single submitter ⚠
- p.Arg688Ser Single submitter ⚠
- p.Arg701Gly Single submitter DENND5B-related neurodevelopmental disorder ⚠
- p.Arg749Cys Single submitter ⚠
- p.Arg749His Single submitter DENND5B-related neurodevelopmental disorder ⚠
- p.Arg904Cys Single submitter ⚠
- p.Arg909Gly Single submitter ⚠
- p.Asn1088Ser Single submitter ⚠
- p.Asn1198Lys Single submitter ⚠
- p.Asn1248Ser Single submitter ⚠
- p.Asn366Thr Single submitter ⚠
- p.Asn388Ser Single submitter ⚠
- p.Asn430Ser Single submitter ⚠
- p.Asn45Ile Single submitter ⚠
- p.Asn508Asp Single submitter ⚠
- p.Asn889Asp Single submitter ⚠
- p.Asp1170His Single submitter ⚠
- p.Asp1273His Single submitter ⚠
- p.Asp391Gly Single submitter ⚠
- p.Asp542Asn Single submitter ⚠
- p.Asp542Gly Single submitter ⚠
- p.Asp661Asn Single submitter ⚠
- p.Asp661Tyr Single submitter ⚠
- p.Asp849Glu Single submitter DENND5B-related neurodevelopmental disorder ⚠
- p.Asp96His Single submitter ⚠
- p.Cys129Ser Single submitter ⚠
- p.Cys488Tyr Single submitter ⚠
- p.Gln1206His Single submitter ⚠
- p.Gln1220Arg Single submitter ⚠
- p.Gln202Lys Single submitter ⚠
- p.Gln647Glu Single submitter ⚠
- p.Gln730Arg Single submitter ⚠
- p.Gln91Arg Single submitter ⚠
- p.Glu1040Val Single submitter ⚠
- p.Glu1163_Thr1165del Single submitter
- p.Glu1237Gly Single submitter ⚠
- p.Glu364Gly Single submitter ⚠
- p.Glu395Gly Single submitter ⚠
- p.Glu625Lys Single submitter ⚠
- p.Glu774Gly Single submitter ⚠
- p.Glu979Gly Single submitter ⚠
- p.Gly1019Glu Single submitter ⚠
- p.Gly1115Arg Single submitter ⚠
- p.Gly11Val Single submitter ⚠
- p.Gly249Val Single submitter ⚠
- p.Gly260Glu Single submitter ⚠
- p.Gly409Ser Single submitter ⚠
- p.Gly435Asp Single submitter ⚠
- p.Gly450Val Single submitter ⚠
- p.Gly653Arg Single submitter ⚠
- p.His375Asp Single submitter ⚠
- p.His690Arg Single submitter ⚠
- p.His693Pro Single submitter ⚠
- p.His757Tyr Single submitter ⚠
- p.His791Tyr Single submitter ⚠
- p.Ile1017Val Single submitter ⚠
- p.Ile1042Val Single submitter ⚠
- p.Ile195Val Single submitter ⚠
- p.Ile372Thr Single submitter ⚠
- p.Ile405Met Single submitter ⚠
- p.Ile610Val Single submitter ⚠
- p.Ile636Val Single submitter ⚠
- p.Ile807Val Single submitter ⚠
- p.Ile847Thr Single submitter ⚠
- p.Leu1056Pro Single submitter ⚠
- p.Leu1268Phe Single submitter ⚠
- p.Leu170Ile Single submitter ⚠
- p.Leu598_Tyr599insTer Single submitter DENNDB5-associated neurodevelopmental disorder
- p.Leu628Met Single submitter ⚠
- p.Leu696Pro Single submitter ⚠
- p.Leu785Gln Single submitter ⚠
- p.Lys1157Ile Single submitter ⚠
- p.Lys190Glu Single submitter ⚠
- p.Lys246Ile Single submitter ⚠
- p.Lys449Asn Single submitter ⚠
- p.Lys574Arg Single submitter ⚠
- p.Lys595Thr Single submitter ⚠
- p.Lys644Arg Single submitter ⚠
- p.Lys884Glu Single submitter ⚠
- p.Met566Ile Single submitter ⚠
- p.Met705Leu Single submitter ⚠
- p.Met755Leu Single submitter ⚠
- p.Met79Val Single submitter ⚠
- p.Met971Val Single submitter ⚠
- p.Phe654Cys Single submitter ⚠
- p.Pro10Arg Single submitter ⚠
- p.Pro237His Single submitter ⚠
- p.Pro265Arg Single submitter ⚠
- p.Pro384Ala Single submitter ⚠
- p.Pro407Leu Single submitter ⚠
- p.Pro64Ser Single submitter ⚠
- p.Ser1068Thr Single submitter ⚠
- p.Ser1181Ala Single submitter ⚠
- p.Ser1238Gly Single submitter ⚠
- p.Ser14Cys Single submitter ⚠
- p.Ser178Cys Single submitter ⚠
- p.Ser262Ile Single submitter ⚠
- p.Ser559Leu Single submitter DENND5B-related neurodevelopmental disorder ⚠
- p.Ser559Ter Single submitter
- p.Ser675Asn Single submitter ⚠
- p.Ser800Leu Single submitter DENND5B-related neurodevelopmental disorder ⚠
- p.Ser857Gly Single submitter ⚠
- p.Ser87Ala Single submitter ⚠
- p.Ser918fs Single submitter
- p.Thr1070Ile Single submitter ⚠
- p.Thr112Ile Single submitter ⚠
- p.Thr1184Asn Single submitter ⚠
- p.Thr1213Ser Single submitter ⚠
- p.Thr168Ala Single submitter ⚠
- p.Thr841Met Single submitter ⚠
- p.Thr933Ala Single submitter ⚠
- p.Trp1006Ter Single submitter
- p.Trp803Leu Single submitter DENND5B-related neurodevelopmental disorder ⚠
- p.Tyr1188Ter Single submitter
- p.Tyr120Cys Single submitter ⚠
- p.Tyr136His Single submitter ⚠
- p.Tyr179Cys Single submitter ⚠
- p.Tyr228Cys Single submitter ⚠
- p.Tyr299Ser Single submitter ⚠
- p.Val1057Leu Single submitter ⚠
- p.Val1119Leu Single submitter ⚠
- p.Val1175Ile Single submitter ⚠
- p.Val1189Ile Single submitter ⚠
- p.Val250Ala Single submitter ⚠
- p.Val342Leu Single submitter ⚠
- p.Val601Ile Single submitter ⚠
- p.Val752Leu Single submitter ⚠
- p.Val941Met Single submitter ⚠