EXOC2 — 140 ClinVar variants
All ClinVar germline EXOC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →
1 Pathogenic · 5 Benign · 16 Likely benign · 118 Uncertain significance
Full EXOC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 112
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.
-
EXOC2 p.Leu580Ser
Pathogenic
No assertion criteria
neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
Predictors lean, ClinVar uncertain 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EXOC2 p.Arg414His
Uncertain significance
Multiple submitters
prostate cancer
- EXOC2 p.Asp892Glu Uncertain significance Multiple submitters
- EXOC2 p.Ala228Thr Uncertain significance Single submitter
- EXOC2 p.Ala425Val Uncertain significance Single submitter
- EXOC2 p.Ala549Thr Uncertain significance Single submitter
- EXOC2 p.Ala551Thr Uncertain significance Single submitter
- EXOC2 p.Ala730Thr Uncertain significance Single submitter
- EXOC2 p.Ala851Thr Uncertain significance Single submitter
- EXOC2 p.Ala880Ser Uncertain significance Single submitter
- EXOC2 p.Ala917Thr Uncertain significance Single submitter
- EXOC2 p.Arg248Lys Uncertain significance Single submitter
- EXOC2 p.Arg3Gln Uncertain significance Single submitter
-
EXOC2 p.Arg437Gln
Uncertain significance
Single submitter
amelogenesis imperfecta type 1F
- EXOC2 p.Arg448Gly Uncertain significance Single submitter
- EXOC2 p.Arg527Gln Uncertain significance Single submitter
- EXOC2 p.Arg585Cys Uncertain significance Single submitter
- EXOC2 p.Arg600Ser Uncertain significance Single submitter
- EXOC2 p.Arg723Cys Uncertain significance Single submitter
- EXOC2 p.Arg723His Uncertain significance Single submitter
- EXOC2 p.Arg823Gln Uncertain significance Single submitter
- EXOC2 p.Asn275Ser Uncertain significance Single submitter
- EXOC2 p.Asn569Ser Uncertain significance Single submitter
- EXOC2 p.Asn611Ser Uncertain significance Single submitter
- EXOC2 p.Asn661Ser Uncertain significance Single submitter
- EXOC2 p.Asp298Gly Uncertain significance Single submitter
- EXOC2 p.Asp408Asn Uncertain significance Single submitter
- EXOC2 p.Asp581Glu Uncertain significance Single submitter
- EXOC2 p.Asp788Gly Uncertain significance Single submitter
- EXOC2 p.Cys586Ser Uncertain significance Single submitter
- EXOC2 p.Gln423His Uncertain significance Single submitter
- EXOC2 p.Gln434His Uncertain significance Single submitter
- EXOC2 p.Gln576Lys Uncertain significance Single submitter
- EXOC2 p.Gln664Lys Uncertain significance Single submitter
-
EXOC2 p.Gln66Lys
Uncertain significance
Single submitter
amelogenesis imperfecta type 1F
- EXOC2 p.Gln746Lys Uncertain significance Single submitter
- EXOC2 p.Glu333Gln Uncertain significance Single submitter
- EXOC2 p.Glu337Lys Uncertain significance Single submitter
- EXOC2 p.Glu542Lys Uncertain significance Single submitter
- EXOC2 p.Glu754Gln Uncertain significance Single submitter
- EXOC2 p.Glu897Ala Uncertain significance Single submitter
- EXOC2 p.Gly535Arg Uncertain significance Single submitter
- EXOC2 p.Gly72Arg Uncertain significance Single submitter
- EXOC2 p.Gly778Glu Uncertain significance Single submitter
- EXOC2 p.His223Pro Uncertain significance Single submitter
- EXOC2 p.His364Arg Uncertain significance Single submitter
- EXOC2 p.His511Leu Uncertain significance Single submitter
- EXOC2 p.His810Arg Uncertain significance Single submitter
- EXOC2 p.Ile139Met Uncertain significance Single submitter
- EXOC2 p.Ile681Thr Uncertain significance Single submitter
- EXOC2 p.Leu129Val Uncertain significance Single submitter
-
EXOC2 p.Leu350Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- EXOC2 p.Leu402Arg Uncertain significance Single submitter
- EXOC2 p.Leu407Phe Uncertain significance Single submitter
- EXOC2 p.Leu458Pro Uncertain significance Single submitter
- EXOC2 p.Leu861Val Uncertain significance Single submitter
- EXOC2 p.Leu881Val Uncertain significance Single submitter
- EXOC2 p.Lys196Arg Uncertain significance Single submitter
- EXOC2 p.Lys241Ile Uncertain significance Single submitter
- EXOC2 p.Lys650Glu Uncertain significance Single submitter
- EXOC2 p.Lys676Glu Uncertain significance Single submitter
- EXOC2 p.Met111Val Uncertain significance Single submitter
- EXOC2 p.Met116Ile Uncertain significance Single submitter
- EXOC2 p.Met588Thr Uncertain significance Single submitter
- EXOC2 p.Met663Ile Uncertain significance Single submitter
-
EXOC2 p.Met921Ile
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- EXOC2 p.Phe703Leu Uncertain significance Single submitter
- EXOC2 p.Phe726Val Uncertain significance Single submitter
- EXOC2 p.Pro415Leu Uncertain significance Single submitter
-
EXOC2 p.Pro649Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- EXOC2 p.Ser145Leu Uncertain significance Single submitter
- EXOC2 p.Ser404Asn Uncertain significance Single submitter
- EXOC2 p.Ser422Cys Uncertain significance Single submitter
- EXOC2 p.Ser561Leu Uncertain significance Single submitter
- EXOC2 p.Ser628Ala Uncertain significance Single submitter
- EXOC2 p.Ser674Ile Uncertain significance Single submitter
- EXOC2 p.Ser698Asn Uncertain significance Single submitter
- EXOC2 p.Thr161Arg Uncertain significance Single submitter
- EXOC2 p.Thr178Asn Uncertain significance Single submitter
- EXOC2 p.Thr239Met Uncertain significance Single submitter
- EXOC2 p.Thr413Ala Uncertain significance Single submitter
- EXOC2 p.Thr440Met Uncertain significance Single submitter
- EXOC2 p.Thr482Ala Uncertain significance Single submitter
- EXOC2 p.Thr558Asn Uncertain significance Single submitter
- EXOC2 p.Thr590Met Uncertain significance Single submitter
- EXOC2 p.Thr683Ala Uncertain significance Single submitter
- EXOC2 p.Thr725Ala Uncertain significance Single submitter
- EXOC2 p.Thr924Ile Uncertain significance Single submitter
- EXOC2 p.Tyr114Cys Uncertain significance Single submitter
- EXOC2 p.Tyr299Cys Uncertain significance Single submitter
- EXOC2 p.Tyr392Cys Uncertain significance Single submitter
- EXOC2 p.Tyr443His Uncertain significance Single submitter
- EXOC2 p.Val234Ile Uncertain significance Single submitter
- EXOC2 p.Val328Ile Uncertain significance Single submitter
- EXOC2 p.Val584Ile Uncertain significance Single submitter
- EXOC2 p.Val626Met Uncertain significance Single submitter
- EXOC2 p.Val772Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- EXOC2 c.-43-18694C>A Benign Single submitter
- EXOC2 p.Arg518His Uncertain significance Single submitter
- EXOC2 p.Asn275Tyr Uncertain significance Single submitter
- EXOC2 p.Asn797Lys Uncertain significance Single submitter
- EXOC2 p.Asp368Glu Uncertain significance Single submitter
- EXOC2 p.His364Pro Uncertain significance Single submitter
- EXOC2 p.Leu274Val Uncertain significance Single submitter
- EXOC2 p.Leu312Val Uncertain significance Single submitter
- EXOC2 p.Leu350Phe Uncertain significance Single submitter
- EXOC2 p.Phe451Cys Uncertain significance Single submitter
- EXOC2 p.Phe621Leu Uncertain significance Single submitter
- EXOC2 p.Phe738Leu Uncertain significance Single submitter
- EXOC2 p.Thr51Met Uncertain significance Single submitter
- EXOC2 p.Tyr780Asn Uncertain significance Single submitter
- EXOC2 p.Val824Ala Uncertain significance Single submitter
All EXOC2 variants
Pathogenic 1
- p.Leu580Ser No assertion criteria neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ⚠
Benign 5
- c.-43-18694C>A Single submitter ⚠
- p.Arg518= Single submitter
- p.Glu333= Single submitter
- p.Leu803= Single submitter
- p.Val587Ile Single submitter
Likely benign 16
- p.Leu458= Multiple submitters
- p.Phe153= Multiple submitters
- p.Pro8= Multiple submitters
- c.1192+19A>G Single submitter
- c.1668-5C>T Single submitter
- c.2621+9C>T Single submitter
- c.423-15G>T Single submitter
- p.Ala811= Single submitter
- p.Gln372= Single submitter
- p.Gly314= Single submitter
- p.Ile816= Single submitter
- p.Leu909= Single submitter
- p.Phe213= Single submitter
- p.Thr11= Single submitter
- p.Thr924= Single submitter
- p.Tyr473= Single submitter
Uncertain significance 118
- p.Arg414His Multiple submitters prostate cancer ⚠
- p.Asp892Glu Multiple submitters ⚠
- c.1443+10C>T Single submitter neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- c.1932+4A>C Single submitter neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- c.-43-18972_-43-18956del Single submitter neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- p.Ala228Thr Single submitter ⚠
- p.Ala425Val Single submitter ⚠
- p.Ala549Thr Single submitter ⚠
- p.Ala551Thr Single submitter ⚠
- p.Ala730Thr Single submitter ⚠
- p.Ala811Thr Single submitter
- p.Ala851Thr Single submitter ⚠
- p.Ala880Ser Single submitter ⚠
- p.Ala917Thr Single submitter ⚠
- p.Arg248Lys Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg437Gln Single submitter amelogenesis imperfecta type 1F ⚠
- p.Arg437Ter Single submitter neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- p.Arg448Gly Single submitter ⚠
- p.Arg518His Single submitter ⚠
- p.Arg527Gln Single submitter ⚠
- p.Arg585Cys Single submitter ⚠
- p.Arg600Ser Single submitter ⚠
- p.Arg723Cys Single submitter ⚠
- p.Arg723His Single submitter ⚠
- p.Arg823Gln Single submitter ⚠
- p.Asn133His Single submitter
- p.Asn275Ser Single submitter ⚠
- p.Asn275Tyr Single submitter ⚠
- p.Asn569Ser Single submitter ⚠
- p.Asn611Ser Single submitter ⚠
- p.Asn661Ser Single submitter ⚠
- p.Asn797Lys Single submitter ⚠
- p.Asp298Gly Single submitter ⚠
- p.Asp368Glu Single submitter ⚠
- p.Asp408Asn Single submitter ⚠
- p.Asp581Glu Single submitter ⚠
- p.Asp788Gly Single submitter ⚠
- p.Cys586Ser Single submitter ⚠
- p.Gln423His Single submitter ⚠
- p.Gln434His Single submitter ⚠
- p.Gln576Lys Single submitter ⚠
- p.Gln664Lys Single submitter ⚠
- p.Gln66Lys Single submitter amelogenesis imperfecta type 1F ⚠
- p.Gln746Lys Single submitter ⚠
- p.Glu333Gln Single submitter ⚠
- p.Glu337Lys Single submitter ⚠
- p.Glu542Lys Single submitter ⚠
- p.Glu754Gln Single submitter ⚠
- p.Glu897Ala Single submitter ⚠
- p.Gly535Arg Single submitter ⚠
- p.Gly72Arg Single submitter ⚠
- p.Gly778Glu Single submitter ⚠
- p.His223Pro Single submitter ⚠
- p.His364Arg Single submitter ⚠
- p.His364Pro Single submitter ⚠
- p.His511Leu Single submitter ⚠
- p.His810Arg Single submitter ⚠
- p.Ile139Met Single submitter ⚠
- p.Ile681Thr Single submitter ⚠
- p.Leu129Val Single submitter ⚠
- p.Leu274Val Single submitter ⚠
- p.Leu312Val Single submitter ⚠
- p.Leu350Phe Single submitter ⚠
- p.Leu350Ser Single submitter neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ⚠
- p.Leu402Arg Single submitter ⚠
- p.Leu407Phe Single submitter ⚠
- p.Leu458Pro Single submitter ⚠
- p.Leu799Ter Single submitter
- p.Leu861Val Single submitter ⚠
- p.Leu881Val Single submitter ⚠
- p.Lys196Arg Single submitter ⚠
- p.Lys241Ile Single submitter ⚠
- p.Lys650Glu Single submitter ⚠
- p.Lys676Glu Single submitter ⚠
- p.Met111Val Single submitter ⚠
- p.Met116Ile Single submitter ⚠
- p.Met588Thr Single submitter ⚠
- p.Met663Ile Single submitter ⚠
- p.Met921Ile Single submitter neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ⚠
- p.Phe451Cys Single submitter ⚠
- p.Phe621Leu Single submitter ⚠
- p.Phe703Leu Single submitter ⚠
- p.Phe726Val Single submitter ⚠
- p.Phe738Leu Single submitter ⚠
- p.Pro415Leu Single submitter ⚠
- p.Pro649Arg Single submitter neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ⚠
- p.Ser145Leu Single submitter ⚠
- p.Ser404Asn Single submitter ⚠
- p.Ser422Cys Single submitter ⚠
- p.Ser544= Single submitter
- p.Ser561Leu Single submitter ⚠
- p.Ser628Ala Single submitter ⚠
- p.Ser674Ile Single submitter ⚠
- p.Ser698Asn Single submitter ⚠
- p.Thr161Arg Single submitter ⚠
- p.Thr178Asn Single submitter ⚠
- p.Thr239Met Single submitter ⚠
- p.Thr413Ala Single submitter ⚠
- p.Thr440Met Single submitter ⚠
- p.Thr482Ala Single submitter ⚠
- p.Thr51Met Single submitter ⚠
- p.Thr558Asn Single submitter ⚠
- p.Thr590Met Single submitter ⚠
- p.Thr683Ala Single submitter ⚠
- p.Thr725Ala Single submitter ⚠
- p.Thr924Ile Single submitter ⚠
- p.Tyr114Cys Single submitter ⚠
- p.Tyr299Cys Single submitter ⚠
- p.Tyr392Cys Single submitter ⚠
- p.Tyr443His Single submitter ⚠
- p.Tyr780Asn Single submitter ⚠
- p.Val234Ile Single submitter ⚠
- p.Val328Ile Single submitter ⚠
- p.Val584Ile Single submitter ⚠
- p.Val626Met Single submitter ⚠
- p.Val772Ile Single submitter ⚠
- p.Val824Ala Single submitter ⚠