CPE — 156 ClinVar variants
All ClinVar germline CPE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
7 Pathogenic · 1 Likely pathogenic · 9 Benign · 3 Benign/Likely benign · 56 Likely benign · 80 Uncertain significance
Full CPE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CPE p.Arg297Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CPE p.Ala118Val Uncertain significance Single submitter
-
CPE p.Arg42Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CPE p.Asn386Asp Uncertain significance Single submitter
-
CPE p.Asp251Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Gln136Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Gln279Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Glu26Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Gly170Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.His248Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Ile415Met
Uncertain significance
Single submitter
CPE-related disorder
-
CPE p.Lys347Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Met237Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Met292Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CPE p.Pro240Arg Uncertain significance Single submitter
-
CPE p.Pro30Ala
Uncertain significance
Single submitter
CPE-related disorder
- CPE p.Ser271Ala Uncertain significance Single submitter
-
CPE p.Ser333Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Ser440Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Thr353Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Trp21Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Trp358Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Tyr368Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Val200Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Val322Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Ala266Ser
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Arg121Gln
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Arg179Gln
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Arg189Trp
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Asn303Asp
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Asn315Lys
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Gly184Glu
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Lys347Arg
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Met292Val
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Pro57Thr
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Thr261Met
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Thr313Ile
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Val177Leu
Uncertain significance
No assertion criteria
CPE-related disorder
Predictors split 46
The independent predictors disagree with each other — read with care.
- CPE p.Ala423Val Benign/Likely benign Multiple submitters
- CPE p.Ala72Val Likely benign Multiple submitters
-
CPE p.Arg262Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CPE p.Val437Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CPE p.Ala128Val Uncertain significance Single submitter
- CPE p.Ala15Thr Uncertain significance Single submitter
-
CPE p.Ala166Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Ala166Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Ala425Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Arg262Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CPE p.Arg283Trp Uncertain significance Single submitter
-
CPE p.Asn144His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Asn246Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CPE p.Asn296Ser Benign Single submitter
-
CPE p.Asp294Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Asp304Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CPE p.Gly20Glu Uncertain significance Single submitter
-
CPE p.Gly98Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Ile197Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CPE p.Ile393Val Benign Single submitter
-
CPE p.Leu10Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Pro290Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Pro30Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Pro426Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CPE p.Ser156Cys Uncertain significance Single submitter
- CPE p.Ser270Thr Uncertain significance Single submitter
-
CPE p.Thr353Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CPE p.Thr392Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CPE p.Val380Ile Benign Single submitter
- CPE p.Val435Leu Uncertain significance Single submitter
-
CPE p.Ala231Gly
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Ala389Val
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Ala430Val
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Arg301Cys
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Arg41Gln
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Asp294Gly
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Asp304Gly
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Glu465Gly
Likely benign
No assertion criteria
CPE-related disorder
-
CPE p.Gly14Arg
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Gly5Val
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Ile185Leu
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Leu172Pro
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Pro323Leu
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Thr78Lys
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Val310Ala
Uncertain significance
No assertion criteria
CPE-related disorder
-
CPE p.Val445Ala
Uncertain significance
No assertion criteria
CPE-related disorder
All CPE variants
Pathogenic 7
- p.Arg121Ter Multiple submitters Blakemore-Durmaz-Vasileiou (BDV) syndrome
- p.Gln384Ter Single submitter Inborn genetic diseases
- p.Glu92Ter Single submitter Early onset severe obesity
- p.Ser333fs Single submitter BDV syndrome
- p.Tyr256Ter Single submitter
- p.Glu26fs No assertion criteria BDV syndrome
- p.Tyr135Ter No assertion criteria BDV syndrome
Likely pathogenic 1
- p.Ser404fs Single submitter BDV syndrome
Benign 9
- p.His267= Multiple submitters
- p.Thr432= Multiple submitters
- c.672+6G>A Single submitter
- p.Asn296Ser Single submitter ⚠
- p.Asn315= Single submitter
- p.Ile393Val Single submitter ⚠
- p.Thr261= Single submitter
- p.Val232= Single submitter
- p.Val380Ile Single submitter ⚠
Benign/Likely benign 3
- c.505-3dup Multiple submitters BDV syndrome
- p.Ala423Val Multiple submitters ⚠
- p.Leu474= Multiple submitters BDV syndrome
Likely benign 56
- p.Ala72Val Multiple submitters ⚠
- p.Gln69= Multiple submitters
- c.1213+17A>G Single submitter
- c.307+13C>T Single submitter
- c.672+11C>T Single submitter
- c.790+10C>A Single submitter
- c.791-4C>G Single submitter
- p.Ala2= Single submitter
- p.Asn139= Single submitter
- p.Asp275= Single submitter
- p.Gln384= Single submitter Inborn genetic diseases
- p.Glu101= Single submitter
- p.His248= Single submitter
- p.Ile415Val Single submitter Inborn genetic diseases
- p.Leu127= Single submitter
- p.Leu421= Single submitter
- p.Leu463= Single submitter
- p.Pro257= Single submitter
- p.Pro387= Single submitter
- p.Thr356= Single submitter
- c.1113+9A>C No assertion criteria CPE-related disorder
- c.1332+10C>A No assertion criteria CPE-related disorder
- c.505-4_505-3del No assertion criteria CPE-related disorder
- c.790+10C>T No assertion criteria CPE-related disorder
- c.791-4C>T No assertion criteria CPE-related disorder
- c.973+3G>A No assertion criteria CPE-related disorder
- p.Ala118= No assertion criteria CPE-related disorder
- p.Ala15= No assertion criteria CPE-related disorder
- p.Ala165= No assertion criteria CPE-related disorder
- p.Ala245= No assertion criteria CPE-related disorder
- p.Ala32= No assertion criteria CPE-related disorder
- p.Arg40= No assertion criteria CPE-related disorder
- p.Asp251= No assertion criteria CPE-related disorder
- p.Asp304= No assertion criteria CPE-related disorder
- p.Asp399= No assertion criteria CPE-related disorder
- p.Glu454= No assertion criteria CPE-related disorder
- p.Glu459= No assertion criteria CPE-related disorder
- p.Glu462= No assertion criteria CPE-related disorder
- p.Glu465Gly No assertion criteria CPE-related disorder ⚠
- p.His152= No assertion criteria CPE-related disorder
- p.His400= No assertion criteria CPE-related disorder
- p.Leu22= No assertion criteria CPE-related disorder
- p.Leu9= No assertion criteria CPE-related disorder
- p.Leu93= No assertion criteria CPE-related disorder
- p.Lys456Glu No assertion criteria CPE-related disorder
- p.Lys460= No assertion criteria CPE-related disorder
- p.Pro227= No assertion criteria CPE-related disorder
- p.Pro290= No assertion criteria CPE-related disorder
- p.Pro30= No assertion criteria CPE-related disorder
- p.Ser321= No assertion criteria CPE-related disorder
- p.Thr314= No assertion criteria CPE-related disorder
- p.Thr340= No assertion criteria CPE-related disorder
- p.Tyr199= No assertion criteria CPE-related disorder
- p.Tyr439= No assertion criteria CPE-related disorder
- p.Val200= No assertion criteria CPE-related disorder
- p.Val200Met No assertion criteria CPE-related disorder
Uncertain significance 80
- p.Arg262Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg297Trp Multiple submitters Inborn genetic diseases ⚠
- p.Val437Ile Multiple submitters Inborn genetic diseases ⚠
- c.974-3C>T Single submitter CPE-related disorder
- p.Ala118Val Single submitter ⚠
- p.Ala128Val Single submitter ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala166Thr Single submitter Inborn genetic diseases ⚠
- p.Ala166Val Single submitter Inborn genetic diseases ⚠
- p.Ala425Val Single submitter Inborn genetic diseases ⚠
- p.Arg262Gln Single submitter Inborn genetic diseases ⚠
- p.Arg283Trp Single submitter ⚠
- p.Arg42Pro Single submitter Inborn genetic diseases ⚠
- p.Asn144His Single submitter Inborn genetic diseases ⚠
- p.Asn246Ser Single submitter Inborn genetic diseases ⚠
- p.Asn386Asp Single submitter ⚠
- p.Asp251Gly Single submitter Inborn genetic diseases ⚠
- p.Asp294Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp304Ala Single submitter Inborn genetic diseases ⚠
- p.Gln136Arg Single submitter Inborn genetic diseases ⚠
- p.Gln279Arg Single submitter Inborn genetic diseases ⚠
- p.Glu26Ala Single submitter Inborn genetic diseases ⚠
- p.Gly170Val Single submitter Inborn genetic diseases ⚠
- p.Gly20Glu Single submitter ⚠
- p.Gly98Ser Single submitter Inborn genetic diseases ⚠
- p.His248Arg Single submitter Inborn genetic diseases ⚠
- p.Ile197Thr Single submitter Inborn genetic diseases ⚠
- p.Ile415Met Single submitter CPE-related disorder ⚠
- p.Leu10Met Single submitter Inborn genetic diseases ⚠
- p.Lys347Thr Single submitter Inborn genetic diseases ⚠
- p.Met237Thr Single submitter Inborn genetic diseases ⚠
- p.Met292Ile Single submitter Inborn genetic diseases ⚠
- p.Pro240Arg Single submitter ⚠
- p.Pro290Leu Single submitter Inborn genetic diseases ⚠
- p.Pro30Ala Single submitter CPE-related disorder ⚠
- p.Pro30Thr Single submitter Inborn genetic diseases ⚠
- p.Pro426Leu Single submitter Inborn genetic diseases ⚠
- p.Ser156Cys Single submitter ⚠
- p.Ser270Thr Single submitter ⚠
- p.Ser271Ala Single submitter ⚠
- p.Ser333Gly Single submitter Inborn genetic diseases ⚠
- p.Ser440Arg Single submitter Inborn genetic diseases ⚠
- p.Thr353Ala Single submitter Inborn genetic diseases ⚠
- p.Thr353Pro Single submitter Inborn genetic diseases ⚠
- p.Thr392Ile Single submitter Inborn genetic diseases ⚠
- p.Trp21Cys Single submitter Inborn genetic diseases ⚠
- p.Trp358Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr368Cys Single submitter Inborn genetic diseases ⚠
- p.Val200Glu Single submitter Inborn genetic diseases ⚠
- p.Val322Ile Single submitter Inborn genetic diseases ⚠
- p.Val435Leu Single submitter ⚠
- c.673-2A>G No assertion criteria CPE-related disorder
- p.Ala231Gly No assertion criteria CPE-related disorder ⚠
- p.Ala266Ser No assertion criteria CPE-related disorder ⚠
- p.Ala389Val No assertion criteria CPE-related disorder ⚠
- p.Ala430Val No assertion criteria CPE-related disorder ⚠
- p.Arg121Gln No assertion criteria CPE-related disorder ⚠
- p.Arg179Gln No assertion criteria CPE-related disorder ⚠
- p.Arg189Trp No assertion criteria CPE-related disorder ⚠
- p.Arg301Cys No assertion criteria CPE-related disorder ⚠
- p.Arg41Gln No assertion criteria CPE-related disorder ⚠
- p.Asn303Asp No assertion criteria CPE-related disorder ⚠
- p.Asn315Lys No assertion criteria CPE-related disorder ⚠
- p.Asp294Gly No assertion criteria CPE-related disorder ⚠
- p.Asp304Gly No assertion criteria CPE-related disorder ⚠
- p.Gly14Arg No assertion criteria CPE-related disorder ⚠
- p.Gly184Glu No assertion criteria CPE-related disorder ⚠
- p.Gly5Val No assertion criteria CPE-related disorder ⚠
- p.Ile185Leu No assertion criteria CPE-related disorder ⚠
- p.Leu172Pro No assertion criteria CPE-related disorder ⚠
- p.Lys347Arg No assertion criteria CPE-related disorder ⚠
- p.Met292Val No assertion criteria CPE-related disorder ⚠
- p.Pro323Leu No assertion criteria CPE-related disorder ⚠
- p.Pro57Thr No assertion criteria CPE-related disorder ⚠
- p.Thr261Met No assertion criteria CPE-related disorder ⚠
- p.Thr313Ile No assertion criteria CPE-related disorder ⚠
- p.Thr78Lys No assertion criteria CPE-related disorder ⚠
- p.Val177Leu No assertion criteria CPE-related disorder ⚠
- p.Val310Ala No assertion criteria CPE-related disorder ⚠
- p.Val445Ala No assertion criteria CPE-related disorder ⚠