CDH4 — 185 ClinVar variants
All ClinVar germline CDH4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
1 Likely pathogenic · 1 Conflicting · 10 Benign · 3 Benign/Likely benign · 21 Likely benign · 149 Uncertain significance
Full CDH4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
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 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CDH4 p.Val580Ile
Uncertain significance
Multiple submitters
CDH4-related disorder
- CDH4 p.Ala115Thr Uncertain significance Single submitter
- CDH4 p.Ala241Thr Uncertain significance Single submitter
- CDH4 p.Ala361Val Uncertain significance Single submitter
- CDH4 p.Ala478Val Uncertain significance Single submitter
- CDH4 p.Ala504Asp Uncertain significance Single submitter
- CDH4 p.Ala656Glu Uncertain significance Single submitter
- CDH4 p.Ala724Thr Uncertain significance Single submitter
- CDH4 p.Ala813Thr Uncertain significance Single submitter
- CDH4 p.Ala826Thr Uncertain significance Single submitter
-
CDH4 p.Ala852Thr
Uncertain significance
Single submitter
Simplified gyral pattern
- CDH4 p.Ala99Val Uncertain significance Single submitter
- CDH4 p.Arg118Gln Uncertain significance Single submitter
- CDH4 p.Arg118Leu Uncertain significance Single submitter
- CDH4 p.Arg19Gln Uncertain significance Single submitter
- CDH4 p.Arg204Leu Uncertain significance Single submitter
- CDH4 p.Arg274Cys Uncertain significance Single submitter
- CDH4 p.Arg28Lys Uncertain significance Single submitter
- CDH4 p.Arg349Gln Uncertain significance Single submitter
- CDH4 p.Arg571Cys Uncertain significance Single submitter
- CDH4 p.Arg677Ser Uncertain significance Single submitter
- CDH4 p.Arg777His Uncertain significance Single submitter
- CDH4 p.Asn283Ser Uncertain significance Single submitter
- CDH4 p.Asn476Ser Uncertain significance Single submitter
- CDH4 p.Asn510Asp Uncertain significance Single submitter
- CDH4 p.Asp114Glu Uncertain significance Single submitter
- CDH4 p.Asp39Gly Uncertain significance Single submitter
- CDH4 p.Asp637Asn Uncertain significance Single submitter
- CDH4 p.Asp856Asn Uncertain significance Single submitter
- CDH4 p.Gln540Pro Uncertain significance Single submitter
- CDH4 p.Gln793Arg Uncertain significance Single submitter
- CDH4 p.Glu23Asp Uncertain significance Single submitter
- CDH4 p.Glu650Lys Uncertain significance Single submitter
- CDH4 p.Glu682Asp Uncertain significance Single submitter
- CDH4 p.Glu96Lys Uncertain significance Single submitter
- CDH4 p.Gly645Asp Uncertain significance Single submitter
- CDH4 p.Gly788Ser Uncertain significance Single submitter
- CDH4 p.His21Gln Uncertain significance Single submitter
- CDH4 p.His440Tyr Uncertain significance Single submitter
- CDH4 p.His808Tyr Uncertain significance Single submitter
- CDH4 p.Ile432Thr Uncertain significance Single submitter
- CDH4 p.Lys618Asn Uncertain significance Single submitter
- CDH4 p.Lys707Asn Uncertain significance Single submitter
- CDH4 p.Met235Val Uncertain significance Single submitter
- CDH4 p.Met75Thr Uncertain significance Single submitter
- CDH4 p.Phe653Ser Uncertain significance Single submitter
- CDH4 p.Pro127Ser Uncertain significance Single submitter
- CDH4 p.Pro144Ala Uncertain significance Single submitter
- CDH4 p.Pro156Arg Uncertain significance Single submitter
- CDH4 p.Pro326Arg Uncertain significance Single submitter
- CDH4 p.Pro626Thr Uncertain significance Single submitter
- CDH4 p.Ser126Thr Uncertain significance Single submitter
- CDH4 p.Ser596Thr Uncertain significance Single submitter
- CDH4 p.Ser675Asn Uncertain significance Single submitter
- CDH4 p.Ser811Asn Uncertain significance Single submitter
- CDH4 p.Ser882Tyr Uncertain significance Single submitter
- CDH4 p.Thr151Ile Uncertain significance Single submitter
- CDH4 p.Thr26Ile Uncertain significance Single submitter
- CDH4 p.Thr30Asn Uncertain significance Single submitter
- CDH4 p.Trp553Cys Uncertain significance Single submitter
- CDH4 p.Tyr230Ser Uncertain significance Single submitter
- CDH4 p.Tyr462Cys Uncertain significance Single submitter
- CDH4 p.Val139Asp Uncertain significance Single submitter
- CDH4 p.Val140Gly Uncertain significance Single submitter
- CDH4 p.Val267Ile Uncertain significance Single submitter
- CDH4 p.Val341Ile Uncertain significance Single submitter
- CDH4 p.Val580Leu Uncertain significance Single submitter
- CDH4 p.Val648Ile Uncertain significance Single submitter
- CDH4 p.Val692Ile Uncertain significance Single submitter
- CDH4 p.Val809Ala Uncertain significance Single submitter
- CDH4 p.Val809Met Uncertain significance Single submitter
- CDH4 p.Val880Ile Uncertain significance Single submitter
Predictors split 79
The independent predictors disagree with each other — read with care.
- CDH4 p.Thr27Ile Likely benign Multiple submitters
-
CDH4 p.Thr396Met
Uncertain significance
Multiple submitters
CDH4-related disorder
- CDH4 p.Ala361Gly Uncertain significance Single submitter
- CDH4 p.Ala558Val Uncertain significance Single submitter
- CDH4 p.Ala583Ser Uncertain significance Single submitter
-
CDH4 p.Ala612Val
Uncertain significance
Single submitter
neurodevelopmental disorder
- CDH4 p.Ala635Val Uncertain significance Single submitter
- CDH4 p.Arg118Trp Uncertain significance Single submitter
- CDH4 p.Arg315Gln Uncertain significance Single submitter
- CDH4 p.Arg405Cys Uncertain significance Single submitter
- CDH4 p.Arg418Gln Conflicting Single submitter
- CDH4 p.Arg444Cys Uncertain significance Single submitter
- CDH4 p.Arg515Cys Uncertain significance Single submitter
-
CDH4 p.Arg659Pro
Likely pathogenic
Single submitter
Abnormal brain morphology
- CDH4 p.Arg659Trp Uncertain significance Single submitter
- CDH4 p.Arg666Cys Uncertain significance Single submitter
- CDH4 p.Arg758Gln Uncertain significance Single submitter
- CDH4 p.Arg763Cys Uncertain significance Single submitter
- CDH4 p.Arg817His Uncertain significance Single submitter
- CDH4 p.Arg818His Uncertain significance Single submitter
- CDH4 p.Arg851Cys Uncertain significance Single submitter
- CDH4 p.Asn412Ser Uncertain significance Single submitter
- CDH4 p.Asn557Ser Uncertain significance Single submitter
- CDH4 p.Asn897Ser Uncertain significance Single submitter
- CDH4 p.Asp76Tyr Uncertain significance Single submitter
- CDH4 p.Asp890Asn Uncertain significance Single submitter
- CDH4 p.Asp894Asn Uncertain significance Single submitter
- CDH4 p.Gln321Glu Uncertain significance Single submitter
- CDH4 p.Gln324His Uncertain significance Single submitter
- CDH4 p.Gln360Lys Uncertain significance Single submitter
- CDH4 p.Gln477Arg Uncertain significance Single submitter
- CDH4 p.Gln891Arg Uncertain significance Single submitter
- CDH4 p.Glu111Lys Uncertain significance Single submitter
-
CDH4 p.Glu451Lys
Uncertain significance
Single submitter
Simplified gyral pattern
- CDH4 p.Glu827Gly Uncertain significance Single submitter
- CDH4 p.Gly16Arg Uncertain significance Single submitter
- CDH4 p.Gly284Ala Uncertain significance Single submitter
- CDH4 p.Gly284Ser Uncertain significance Single submitter
- CDH4 p.Gly523Ser Uncertain significance Single submitter
- CDH4 p.Gly717Arg Uncertain significance Single submitter
- CDH4 p.Gly717Glu Uncertain significance Single submitter
- CDH4 p.Gly733Ser Uncertain significance Single submitter
- CDH4 p.Gly874Ser Uncertain significance Single submitter
- CDH4 p.Gly878Ala Uncertain significance Single submitter
- CDH4 p.Gly913Ser Uncertain significance Single submitter
- CDH4 p.Ile432Val Uncertain significance Single submitter
-
CDH4 p.Ile738Leu
Uncertain significance
Single submitter
CDH4-related disorder
- CDH4 p.Leu245Val Uncertain significance Single submitter
- CDH4 p.Lys197Arg Uncertain significance Single submitter
- CDH4 p.Lys546Glu Uncertain significance Single submitter
- CDH4 p.Lys618Glu Uncertain significance Single submitter
- CDH4 p.Pro389Leu Uncertain significance Single submitter
- CDH4 p.Pro424Ser Uncertain significance Single submitter
- CDH4 p.Pro479Ser Uncertain significance Single submitter
- CDH4 p.Pro594Leu Uncertain significance Single submitter
- CDH4 p.Pro689Arg Uncertain significance Single submitter
- CDH4 p.Pro698Leu Uncertain significance Single submitter
- CDH4 p.Pro803Leu Uncertain significance Single submitter
- CDH4 p.Pro831Leu Uncertain significance Single submitter
- CDH4 p.Ser886Phe Uncertain significance Single submitter
- CDH4 p.Thr208Met Uncertain significance Single submitter
- CDH4 p.Thr298Asn Uncertain significance Single submitter
- CDH4 p.Thr298Ile Uncertain significance Single submitter
- CDH4 p.Thr300Ala Uncertain significance Single submitter
- CDH4 p.Thr300Met Uncertain significance Single submitter
- CDH4 p.Thr381Met Uncertain significance Single submitter
- CDH4 p.Thr414Met Uncertain significance Single submitter
- CDH4 p.Thr41Met Uncertain significance Single submitter
- CDH4 p.Thr491Met Uncertain significance Single submitter
- CDH4 p.Thr528Met Uncertain significance Single submitter
- CDH4 p.Thr565Met Uncertain significance Single submitter
- CDH4 p.Thr765Met Uncertain significance Single submitter
- CDH4 p.Val299Ile Uncertain significance Single submitter
- CDH4 p.Val319Ala Uncertain significance Single submitter
- CDH4 p.Val410Ile Uncertain significance Single submitter
- CDH4 p.Val494Leu Uncertain significance Single submitter
- CDH4 p.Val753Ile Uncertain significance Single submitter
- CDH4 p.Lys782Asn Uncertain significance No assertion criteria
-
CDH4 p.Val385Met
Likely benign
No assertion criteria
CDH4-related disorder
All CDH4 variants
Likely pathogenic 1
- p.Arg659Pro Single submitter Abnormal brain morphology ⚠
Conflicting classifications of pathogenicity 1
- p.Arg418Gln Single submitter ⚠
Benign 10
- c.1629-8C>T Multiple submitters
- c.2240-4A>G Multiple submitters
- p.Ala33Thr Multiple submitters
- p.Ile691= Multiple submitters
- p.Leu667= Multiple submitters
- p.Ala551= No assertion criteria CDH4-related disorder
- p.Gly825= No assertion criteria CDH4-related disorder
- p.Lys625Arg No assertion criteria CDH4-related disorder
- p.Pro655= No assertion criteria CDH4-related disorder
- p.Thr414= No assertion criteria CDH4-related disorder
Benign/Likely benign 3
Likely benign 21
- p.Thr27Ile Multiple submitters ⚠
- p.Asn609= Single submitter
- p.Gly723= Single submitter
- p.Leu850= Single submitter
- p.Pro133Leu Single submitter
- p.Pro260= Single submitter
- p.Thr491= Single submitter
- p.Val116Met Single submitter
- p.Val443Ile Single submitter
- c.1188+7C>A No assertion criteria CDH4-related disorder
- c.1189-9A>G No assertion criteria CDH4-related disorder
- c.170-244074G>T No assertion criteria CDH4-related disorder
- c.170-244081C>T No assertion criteria CDH4-related disorder
- p.Arg405= No assertion criteria CDH4-related disorder
- p.Asp687= No assertion criteria CDH4-related disorder
- p.Gly878= No assertion criteria CDH4-related disorder
- p.Pro594= No assertion criteria CDH4-related disorder
- p.Ser888= No assertion criteria CDH4-related disorder
- p.Ser95= No assertion criteria CDH4-related disorder
- p.Tyr893= No assertion criteria CDH4-related disorder
- p.Val385Met No assertion criteria CDH4-related disorder ⚠
Uncertain significance 149
- p.Thr396Met Multiple submitters CDH4-related disorder ⚠
- p.Val580Ile Multiple submitters CDH4-related disorder ⚠
- c.169+234620C>T Single submitter CDH4-associated disorder of corticaldevelopment
- c.57+4A>G Single submitter
- p.Ala115Thr Single submitter ⚠
- p.Ala241Thr Single submitter ⚠
- p.Ala361Gly Single submitter ⚠
- p.Ala361Val Single submitter ⚠
- p.Ala478Val Single submitter ⚠
- p.Ala504Asp Single submitter ⚠
- p.Ala558Val Single submitter ⚠
- p.Ala583Ser Single submitter ⚠
- p.Ala612Val Single submitter neurodevelopmental disorder ⚠
- p.Ala635Val Single submitter ⚠
- p.Ala656Glu Single submitter ⚠
- p.Ala724Thr Single submitter ⚠
- p.Ala813Thr Single submitter ⚠
- p.Ala826Thr Single submitter ⚠
- p.Ala852Thr Single submitter Simplified gyral pattern ⚠
- p.Ala99Val Single submitter ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg118Leu Single submitter ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg19Gln Single submitter ⚠
- p.Arg204Leu Single submitter ⚠
- p.Arg274Cys Single submitter ⚠
- p.Arg28Lys Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg349Gln Single submitter ⚠
- p.Arg405Cys Single submitter ⚠
- p.Arg444Cys Single submitter ⚠
- p.Arg515Cys Single submitter ⚠
- p.Arg571Cys Single submitter ⚠
- p.Arg659Trp Single submitter ⚠
- p.Arg666Cys Single submitter ⚠
- p.Arg677Ser Single submitter ⚠
- p.Arg758Gln Single submitter ⚠
- p.Arg763Cys Single submitter ⚠
- p.Arg777His Single submitter ⚠
- p.Arg817His Single submitter ⚠
- p.Arg818His Single submitter ⚠
- p.Arg851Cys Single submitter ⚠
- p.Asn283Ser Single submitter ⚠
- p.Asn412Ser Single submitter ⚠
- p.Asn476Ser Single submitter ⚠
- p.Asn510Asp Single submitter ⚠
- p.Asn557Ser Single submitter ⚠
- p.Asn897Ser Single submitter ⚠
- p.Asp114Glu Single submitter ⚠
- p.Asp39Gly Single submitter ⚠
- p.Asp637Asn Single submitter ⚠
- p.Asp76Tyr Single submitter ⚠
- p.Asp856Asn Single submitter ⚠
- p.Asp890Asn Single submitter ⚠
- p.Asp894Asn Single submitter ⚠
- p.Gln321Glu Single submitter ⚠
- p.Gln324His Single submitter ⚠
- p.Gln360Lys Single submitter ⚠
- p.Gln477Arg Single submitter ⚠
- p.Gln540Pro Single submitter ⚠
- p.Gln793Arg Single submitter ⚠
- p.Gln891Arg Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu23Asp Single submitter ⚠
- p.Glu451Lys Single submitter Simplified gyral pattern ⚠
- p.Glu650Lys Single submitter ⚠
- p.Glu682Asp Single submitter ⚠
- p.Glu827Gly Single submitter ⚠
- p.Glu96Lys Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly284Ala Single submitter ⚠
- p.Gly284Ser Single submitter ⚠
- p.Gly523Ser Single submitter ⚠
- p.Gly645Asp Single submitter ⚠
- p.Gly717Arg Single submitter ⚠
- p.Gly717Glu Single submitter ⚠
- p.Gly733Ser Single submitter ⚠
- p.Gly788Ser Single submitter ⚠
- p.Gly874Ser Single submitter ⚠
- p.Gly878Ala Single submitter ⚠
- p.Gly913Ser Single submitter ⚠
- p.His21Gln Single submitter ⚠
- p.His440Tyr Single submitter ⚠
- p.His808Tyr Single submitter ⚠
- p.Ile432Thr Single submitter ⚠
- p.Ile432Val Single submitter ⚠
- p.Ile738Leu Single submitter CDH4-related disorder ⚠
- p.Leu245Val Single submitter ⚠
- p.Lys197Arg Single submitter ⚠
- p.Lys546Glu Single submitter ⚠
- p.Lys618Asn Single submitter ⚠
- p.Lys618Glu Single submitter ⚠
- p.Lys707Asn Single submitter ⚠
- p.Met235Val Single submitter ⚠
- p.Met75Thr Single submitter ⚠
- p.Phe653Ser Single submitter ⚠
- p.Pro127Ser Single submitter ⚠
- p.Pro144Ala Single submitter ⚠
- p.Pro156Arg Single submitter ⚠
- p.Pro326Arg Single submitter ⚠
- p.Pro389Leu Single submitter ⚠
- p.Pro424Ser Single submitter ⚠
- p.Pro479Ser Single submitter ⚠
- p.Pro594Leu Single submitter ⚠
- p.Pro626Thr Single submitter ⚠
- p.Pro689Arg Single submitter ⚠
- p.Pro698Leu Single submitter ⚠
- p.Pro803Leu Single submitter ⚠
- p.Pro831Leu Single submitter ⚠
- p.Ser126Thr Single submitter ⚠
- p.Ser596Thr Single submitter ⚠
- p.Ser675Asn Single submitter ⚠
- p.Ser811Asn Single submitter ⚠
- p.Ser882Tyr Single submitter ⚠
- p.Ser886Phe Single submitter ⚠
- p.Thr151Ile Single submitter ⚠
- p.Thr208Met Single submitter ⚠
- p.Thr26Ile Single submitter ⚠
- p.Thr298Asn Single submitter ⚠
- p.Thr298Ile Single submitter ⚠
- p.Thr300Ala Single submitter ⚠
- p.Thr300Met Single submitter ⚠
- p.Thr30Asn Single submitter ⚠
- p.Thr381Met Single submitter ⚠
- p.Thr414Met Single submitter ⚠
- p.Thr41Met Single submitter ⚠
- p.Thr491Met Single submitter ⚠
- p.Thr528Met Single submitter ⚠
- p.Thr565Met Single submitter ⚠
- p.Thr765Met Single submitter ⚠
- p.Trp553Cys Single submitter ⚠
- p.Tyr230Ser Single submitter ⚠
- p.Tyr462Cys Single submitter ⚠
- p.Val139Asp Single submitter ⚠
- p.Val140Gly Single submitter ⚠
- p.Val267Ile Single submitter ⚠
- p.Val299Ile Single submitter ⚠
- p.Val319Ala Single submitter ⚠
- p.Val341Ile Single submitter ⚠
- p.Val410Ile Single submitter ⚠
- p.Val494Leu Single submitter ⚠
- p.Val580Leu Single submitter ⚠
- p.Val648Ile Single submitter ⚠
- p.Val692Ile Single submitter ⚠
- p.Val753Ile Single submitter ⚠
- p.Val809Ala Single submitter ⚠
- p.Val809Met Single submitter ⚠
- p.Val880Ile Single submitter ⚠
- p.Lys782Asn No assertion criteria ⚠