CPZ — 286 ClinVar variants
All ClinVar germline CPZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 232 flagged for review →
1 Likely pathogenic · 1 Conflicting · 31 Benign · 26 Likely benign · 227 Uncertain significance
Full CPZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 232
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.
-
CPZ p.Arg165Trp
Likely pathogenic
No assertion criteria
Short stature
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 128
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPZ p.Ala106Val Uncertain significance Single submitter
- CPZ p.Ala191Thr Uncertain significance Single submitter
- CPZ p.Ala253Val Uncertain significance Single submitter
- CPZ p.Ala304Val Uncertain significance Single submitter
- CPZ p.Ala336Val Uncertain significance Single submitter
- CPZ p.Ala341Thr Uncertain significance Single submitter
- CPZ p.Ala38Val Uncertain significance Single submitter
- CPZ p.Ala419Thr Uncertain significance Single submitter
- CPZ p.Ala555Pro Uncertain significance Single submitter
- CPZ p.Ala55Ser Uncertain significance Single submitter
- CPZ p.Ala569Asp Uncertain significance Single submitter
- CPZ p.Ala613Thr Uncertain significance Single submitter
- CPZ p.Arg184His Uncertain significance Single submitter
- CPZ p.Arg278His Uncertain significance Single submitter
- CPZ p.Arg284Leu Uncertain significance Single submitter
- CPZ p.Arg428Ser Uncertain significance Single submitter
- CPZ p.Arg432Lys Uncertain significance Single submitter
- CPZ p.Arg440Thr Uncertain significance Single submitter
- CPZ p.Arg504Gln Uncertain significance Single submitter
- CPZ p.Arg529His Uncertain significance Single submitter
- CPZ p.Arg573Met Uncertain significance Single submitter
- CPZ p.Arg573Ser Uncertain significance Single submitter
- CPZ p.Arg647His Uncertain significance Single submitter
- CPZ p.Arg68Gln Uncertain significance Single submitter
- CPZ p.Arg68Leu Uncertain significance Single submitter
- CPZ p.Asn27Lys Uncertain significance Single submitter
- CPZ p.Asn318Lys Uncertain significance Single submitter
- CPZ p.Asn445Lys Uncertain significance Single submitter
- CPZ p.Asp218Asn Uncertain significance Single submitter
- CPZ p.Asp344Asn Uncertain significance Single submitter
- CPZ p.Asp383His Uncertain significance Single submitter
- CPZ p.Asp391His Uncertain significance Single submitter
- CPZ p.Asp407Asn Uncertain significance Single submitter
- CPZ p.Asp53Asn Uncertain significance Single submitter
- CPZ p.Asp578Ala Uncertain significance Single submitter
- CPZ p.Asp602Asn Uncertain significance Single submitter
- CPZ p.Asp602Gly Uncertain significance Single submitter
- CPZ p.Asp96Glu Uncertain significance Single submitter
- CPZ p.Cys93Arg Uncertain significance Single submitter
- CPZ p.Gln314Arg Uncertain significance Single submitter
- CPZ p.Gln350Glu Uncertain significance Single submitter
- CPZ p.Gln624Arg Uncertain significance Single submitter
- CPZ p.Gln87Lys Uncertain significance Single submitter
- CPZ p.Glu127Lys Uncertain significance Single submitter
- CPZ p.Glu23Gly Uncertain significance Single submitter
- CPZ p.Glu240Gln Uncertain significance Single submitter
- CPZ p.Glu240Lys Uncertain significance Single submitter
- CPZ p.Glu251Lys Uncertain significance Single submitter
- CPZ p.Glu337Gln Uncertain significance Single submitter
- CPZ p.Glu612Gln Uncertain significance Single submitter
- CPZ p.Glu615Lys Uncertain significance Single submitter
- CPZ p.Gly124Ser Uncertain significance Single submitter
- CPZ p.Gly214Arg Uncertain significance Single submitter
- CPZ p.Gly249Ala Uncertain significance Single submitter
- CPZ p.Gly249Val Uncertain significance Single submitter
- CPZ p.Gly272Cys Uncertain significance Single submitter
- CPZ p.Gly295Ser Uncertain significance Single submitter
- CPZ p.Gly30Ala Uncertain significance Single submitter
- CPZ p.Gly312Arg Uncertain significance Single submitter
- CPZ p.Gly355Cys Uncertain significance Single submitter
- CPZ p.Gly381Arg Uncertain significance Single submitter
- CPZ p.Gly435Val Uncertain significance Single submitter
- CPZ p.Gly441Trp Uncertain significance Single submitter
- CPZ p.Gly446Arg Uncertain significance Single submitter
- CPZ p.Gly508Asp Uncertain significance Single submitter
- CPZ p.Gly585Arg Uncertain significance Single submitter
- CPZ p.Gly585Val Uncertain significance Single submitter
- CPZ p.Gly587Ala Uncertain significance Single submitter
- CPZ p.Gly587Arg Uncertain significance Single submitter
- CPZ p.Gly605Arg Uncertain significance Single submitter
- CPZ p.Gly611Arg Uncertain significance Single submitter
- CPZ p.His33Tyr Uncertain significance Single submitter
- CPZ p.His593Asn Uncertain significance Single submitter
- CPZ p.His601Gln Uncertain significance Single submitter
- CPZ p.Ile348Ser Uncertain significance Single submitter
- CPZ p.Ile364Val Uncertain significance Single submitter
- CPZ p.Ile550Thr Uncertain significance Single submitter
- CPZ p.Ile580Val Uncertain significance Single submitter
- CPZ p.Leu319Pro Uncertain significance Single submitter
- CPZ p.Leu328Met Uncertain significance Single submitter
- CPZ p.Leu619Val Uncertain significance Single submitter
- CPZ p.Leu649Pro Uncertain significance Single submitter
- CPZ p.Lys366Glu Uncertain significance Single submitter
- CPZ p.Lys394Asn Uncertain significance Single submitter
- CPZ p.Lys394Gln Uncertain significance Single submitter
- CPZ p.Lys516Gln Uncertain significance Single submitter
- CPZ p.Lys589Asn Uncertain significance Single submitter
- CPZ p.Met138Val Uncertain significance Single submitter
- CPZ p.Met365Val Uncertain significance Single submitter
- CPZ p.Met401Arg Uncertain significance Single submitter
- CPZ p.Met401Leu Uncertain significance Single submitter
- CPZ p.Met426Arg Uncertain significance Single submitter
- CPZ p.Met426Ile Uncertain significance Single submitter
- CPZ p.Met426Thr Uncertain significance Single submitter
- CPZ p.Phe143Leu Uncertain significance Single submitter
- CPZ p.Phe185Val Uncertain significance Single submitter
- CPZ p.Phe373Leu Uncertain significance Single submitter
- CPZ p.Phe402Tyr Uncertain significance Single submitter
- CPZ p.Phe478Leu Uncertain significance Single submitter
- CPZ p.Phe478Tyr Uncertain significance Single submitter
- CPZ p.Pro117Thr Uncertain significance Single submitter
- CPZ p.Pro141His Uncertain significance Single submitter
- CPZ p.Pro293Leu Uncertain significance Single submitter
- CPZ p.Pro36Leu Uncertain significance Single submitter
- CPZ p.Pro389Ala Uncertain significance Single submitter
- CPZ p.Pro545Ala Uncertain significance Single submitter
- CPZ p.Pro603Leu Uncertain significance Single submitter
- CPZ p.Pro618Leu Uncertain significance Single submitter
- CPZ p.Ser216Arg Uncertain significance Single submitter
- CPZ p.Ser343Gly Uncertain significance Single submitter
- CPZ p.Ser626Leu Uncertain significance Single submitter
- CPZ p.Ser630Asn Uncertain significance Single submitter
- CPZ p.Ser630Ile Uncertain significance Single submitter
- CPZ p.Ser642Thr Uncertain significance Single submitter
- CPZ p.Ser77Phe Uncertain significance Single submitter
- CPZ p.Thr338Ile Uncertain significance Single submitter
- CPZ p.Thr42Ser Uncertain significance Single submitter
- CPZ p.Thr470Met Uncertain significance Single submitter
- CPZ p.Trp367Arg Uncertain significance Single submitter
- CPZ p.Trp449Cys Uncertain significance Single submitter
- CPZ p.Trp648Cys Uncertain significance Single submitter
- CPZ p.Tyr296Cys Uncertain significance Single submitter
- CPZ p.Tyr296Phe Uncertain significance Single submitter
- CPZ p.Tyr637Asn Uncertain significance Single submitter
- CPZ p.Tyr79Cys Uncertain significance Single submitter
- CPZ p.Val114Ala Uncertain significance Single submitter
- CPZ p.Val499Leu Uncertain significance Single submitter
-
CPZ p.Gly575Arg
Uncertain significance
No assertion criteria
CPZ-related disorder
Predictors split 102
The independent predictors disagree with each other — read with care.
- CPZ p.Gln263Arg Benign Multiple submitters
- CPZ p.Ala201Asp Uncertain significance Single submitter
- CPZ p.Ala262Thr Uncertain significance Single submitter
- CPZ p.Ala262Val Uncertain significance Single submitter
- CPZ p.Ala299Val Uncertain significance Single submitter
- CPZ p.Ala447Ser Uncertain significance Single submitter
- CPZ p.Ala535Gly Uncertain significance Single submitter
- CPZ p.Ala559Thr Likely benign Single submitter
- CPZ p.Arg108Trp Uncertain significance Single submitter
- CPZ p.Arg115His Uncertain significance Single submitter
- CPZ p.Arg119Gln Uncertain significance Single submitter
- CPZ p.Arg119Trp Uncertain significance Single submitter
- CPZ p.Arg165Pro Uncertain significance Single submitter
- CPZ p.Arg184Cys Uncertain significance Single submitter
- CPZ p.Arg195His Uncertain significance Single submitter
- CPZ p.Arg195Pro Uncertain significance Single submitter
- CPZ p.Arg215Cys Uncertain significance Single submitter
- CPZ p.Arg255Gln Uncertain significance Single submitter
- CPZ p.Arg255Trp Uncertain significance Single submitter
- CPZ p.Arg275Cys Uncertain significance Single submitter
- CPZ p.Arg278Cys Uncertain significance Single submitter
- CPZ p.Arg284His Uncertain significance Single submitter
- CPZ p.Arg334Trp Uncertain significance Single submitter
- CPZ p.Arg339Cys Uncertain significance Single submitter
- CPZ p.Arg339His Uncertain significance Single submitter
- CPZ p.Arg522Gln Uncertain significance Single submitter
- CPZ p.Arg529Cys Uncertain significance Single submitter
- CPZ p.Arg576Cys Uncertain significance Single submitter
- CPZ p.Arg620Gln Uncertain significance Single submitter
- CPZ p.Arg620Trp Uncertain significance Single submitter
- CPZ p.Arg622Cys Uncertain significance Single submitter
- CPZ p.Arg622His Uncertain significance Single submitter
- CPZ p.Arg68Trp Uncertain significance Single submitter
- CPZ p.Asn281Tyr Uncertain significance Single submitter
- CPZ p.Asn63Thr Likely benign Single submitter
- CPZ p.Asp134Asn Uncertain significance Single submitter
- CPZ p.Asp159Glu Uncertain significance Single submitter
- CPZ p.Asp383Asn Uncertain significance Single submitter
- CPZ p.Gln130Arg Uncertain significance Single submitter
- CPZ p.Glu123Lys Uncertain significance Single submitter
- CPZ p.Glu172Lys Uncertain significance Single submitter
- CPZ p.Glu226Lys Uncertain significance Single submitter
- CPZ p.Glu331Lys Uncertain significance Single submitter
- CPZ p.Glu408Gly Uncertain significance Single submitter
- CPZ p.Gly111Ser Uncertain significance Single submitter
- CPZ p.Gly219Ser Uncertain significance Single submitter
- CPZ p.Gly232Ser Uncertain significance Single submitter
- CPZ p.Gly515Asp Uncertain significance Single submitter
- CPZ p.Gly515Ser Uncertain significance Single submitter
- CPZ p.Gly557Ala Uncertain significance Single submitter
- CPZ p.Gly557Asp Uncertain significance Single submitter
- CPZ p.Gly611Trp Uncertain significance Single submitter
- CPZ p.His187Gln Uncertain significance Single submitter
- CPZ p.His206Gln Uncertain significance Single submitter
- CPZ p.His234Arg Uncertain significance Single submitter
- CPZ p.His234Gln Uncertain significance Single submitter
- CPZ p.His58Asn Uncertain significance Single submitter
- CPZ p.His67Tyr Uncertain significance Single submitter
- CPZ p.Ile225Phe Uncertain significance Single submitter
- CPZ p.Ile285Met Uncertain significance Single submitter
- CPZ p.Ile528Leu Uncertain significance Single submitter
- CPZ p.Ile532Thr Uncertain significance Single submitter
- CPZ p.Leu271Ile Uncertain significance Single submitter
- CPZ p.Leu8Met Uncertain significance Single submitter
- CPZ p.Lys400Met Uncertain significance Single submitter
- CPZ p.Lys477Asn Uncertain significance Single submitter
- CPZ p.Lys507Arg Uncertain significance Single submitter
- CPZ p.Lys560Glu Uncertain significance Single submitter
- CPZ p.Phe61Leu Uncertain significance Single submitter
- CPZ p.Phe638Leu Uncertain significance Single submitter
- CPZ p.Pro160Leu Uncertain significance Single submitter
- CPZ p.Pro372Ser Uncertain significance Single submitter
- CPZ p.Pro404Ala Uncertain significance Single submitter
- CPZ p.Pro480His Uncertain significance Single submitter
- CPZ p.Pro480Thr Uncertain significance Single submitter
- CPZ p.Pro4Gln Uncertain significance Single submitter
- CPZ p.Pro625His Uncertain significance Single submitter
- CPZ p.Ser267Cys Uncertain significance Single submitter
- CPZ p.Ser311Arg Uncertain significance Single submitter
- CPZ p.Ser429Leu Uncertain significance Single submitter
- CPZ p.Ser524Leu Likely benign Single submitter
- CPZ p.Ser69Leu Uncertain significance Single submitter
- CPZ p.Thr200Lys Uncertain significance Single submitter
- CPZ p.Thr329Lys Uncertain significance Single submitter
- CPZ p.Thr329Met Uncertain significance Single submitter
- CPZ p.Thr338Asn Uncertain significance Single submitter
- CPZ p.Thr405Lys Uncertain significance Single submitter
- CPZ p.Thr453Met Uncertain significance Single submitter
- CPZ p.Trp354Cys Uncertain significance Single submitter
- CPZ p.Trp633Arg Uncertain significance Single submitter
- CPZ p.Tyr306Cys Uncertain significance Single submitter
- CPZ p.Val114Met Uncertain significance Single submitter
- CPZ p.Val15Ile Uncertain significance Single submitter
- CPZ p.Val194Met Uncertain significance Single submitter
- CPZ p.Val421Ile Uncertain significance Single submitter
- CPZ p.Val44Met Uncertain significance Single submitter
- CPZ p.Val502Met Uncertain significance Single submitter
- CPZ p.Val577Ala Uncertain significance Single submitter
-
CPZ p.Ala205Thr
Uncertain significance
No assertion criteria
CPZ-related disorder
-
CPZ p.Arg126Gln
Benign
No assertion criteria
CPZ-related disorder
-
CPZ p.Lys412Asn
Benign
No assertion criteria
CPZ-related disorder
-
CPZ p.Pro480Ala
Benign
No assertion criteria
CPZ-related disorder
All CPZ variants
Likely pathogenic 1
- p.Arg165Trp No assertion criteria Short stature ⚠
Conflicting classifications of pathogenicity 1
- p.Ile225Met Single submitter ⚠
Benign 31
- c.1068+9C>T Multiple submitters
- c.1604-8G>T Multiple submitters
- p.Arg522= Multiple submitters
- p.Asn250= Multiple submitters
- p.Gln263Arg Multiple submitters ⚠
- p.Pro618= Multiple submitters
- c.1363+6G>T No assertion criteria CPZ-related disorder
- c.1364-40_1364-6del No assertion criteria CPZ-related disorder
- c.1504-3C>T No assertion criteria CPZ-related disorder
- c.*4C>T No assertion criteria CPZ-related disorder
- p.Ala301= No assertion criteria CPZ-related disorder
- p.Ala447= No assertion criteria CPZ-related disorder
- p.Arg126Gln No assertion criteria CPZ-related disorder ⚠
- p.Arg19Pro No assertion criteria CPZ-related disorder
- p.Arg596Gln No assertion criteria CPZ-related disorder
- p.Asp154= No assertion criteria CPZ-related disorder
- p.Asp218= No assertion criteria CPZ-related disorder
- p.Asp218Glu No assertion criteria CPZ-related disorder
- p.Asp420= No assertion criteria CPZ-related disorder
- p.Asp628= No assertion criteria CPZ-related disorder
- p.Cys204= No assertion criteria CPZ-related disorder
- p.Gln130Leu No assertion criteria CPZ-related disorder
- p.Gly594= No assertion criteria CPZ-related disorder
- p.Ile213= No assertion criteria CPZ-related disorder
- p.Lys412Asn No assertion criteria CPZ-related disorder ⚠
- p.Pro4= No assertion criteria CPZ-related disorder
- p.Pro480Ala No assertion criteria CPZ-related disorder ⚠
- p.Pro568= No assertion criteria CPZ-related disorder
- p.Pro6Leu No assertion criteria CPZ-related disorder
- p.Ser77= No assertion criteria CPZ-related disorder
- p.Thr501Met No assertion criteria CPZ-related disorder
Likely benign 26
- p.Arg647= Multiple submitters
- p.Thr614= Multiple submitters
- p.Ala559Thr Single submitter ⚠
- p.Ala621= Single submitter
- p.Arg620Gly Single submitter
- p.Asn63Thr Single submitter ⚠
- p.Asp617Glu Single submitter
- p.Gln369Arg Single submitter
- p.Gly382= Single submitter
- p.Gly455= Single submitter
- p.Gly629Arg Single submitter
- p.Lys560Arg Single submitter
- p.Ser343= Single submitter
- p.Ser429= Single submitter
- p.Ser524Leu Single submitter ⚠
- p.Thr151Ala Single submitter
- p.Val12= Single submitter
- c.497-5C>G No assertion criteria CPZ-related disorder
- c.-10C>T No assertion criteria CPZ-related disorder
- c.*7C>G No assertion criteria CPZ-related disorder
- p.Arg284Cys No assertion criteria CPZ-related disorder
- p.Arg570Gln No assertion criteria CPZ-related disorder
- p.Cys122= No assertion criteria CPZ-related disorder
- p.Lys400Glu No assertion criteria CPZ-related disorder
- p.Trp354Ter No assertion criteria CPZ-related disorder
- p.Tyr558= No assertion criteria CPZ-related disorder
Uncertain significance 227
- p.Gln317Ter Multiple submitters
- c.906+1G>A Single submitter
- p.Ala106Val Single submitter ⚠
- p.Ala191Thr Single submitter ⚠
- p.Ala201Asp Single submitter ⚠
- p.Ala253Val Single submitter ⚠
- p.Ala262Thr Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala336Val Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala419Thr Single submitter ⚠
- p.Ala447Ser Single submitter ⚠
- p.Ala535Gly Single submitter ⚠
- p.Ala555Pro Single submitter ⚠
- p.Ala55Ser Single submitter ⚠
- p.Ala569Asp Single submitter ⚠
- p.Ala613Thr Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg165Pro Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Arg195Pro Single submitter ⚠
- p.Arg215Cys Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg255Trp Single submitter ⚠
- p.Arg275Cys Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg278His Single submitter ⚠
- p.Arg284His Single submitter ⚠
- p.Arg284Leu Single submitter ⚠
- p.Arg334Trp Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg339His Single submitter ⚠
- p.Arg428Ser Single submitter ⚠
- p.Arg432Lys Single submitter ⚠
- p.Arg440Thr Single submitter ⚠
- p.Arg504Gln Single submitter ⚠
- p.Arg522Gln Single submitter ⚠
- p.Arg529Cys Single submitter ⚠
- p.Arg529His Single submitter ⚠
- p.Arg573Met Single submitter ⚠
- p.Arg573Ser Single submitter ⚠
- p.Arg576Cys Single submitter ⚠
- p.Arg620Gln Single submitter ⚠
- p.Arg620Trp Single submitter ⚠
- p.Arg622Cys Single submitter ⚠
- p.Arg622His Single submitter ⚠
- p.Arg647His Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Arg68Leu Single submitter ⚠
- p.Arg68Trp Single submitter ⚠
- p.Asn27Lys Single submitter ⚠
- p.Asn281Tyr Single submitter ⚠
- p.Asn318Lys Single submitter ⚠
- p.Asn445Lys Single submitter ⚠
- p.Asp134Asn Single submitter ⚠
- p.Asp159Glu Single submitter ⚠
- p.Asp218Asn Single submitter ⚠
- p.Asp344Asn Single submitter ⚠
- p.Asp383Asn Single submitter ⚠
- p.Asp383His Single submitter ⚠
- p.Asp391His Single submitter ⚠
- p.Asp407Asn Single submitter ⚠
- p.Asp53Asn Single submitter ⚠
- p.Asp578Ala Single submitter ⚠
- p.Asp602Asn Single submitter ⚠
- p.Asp602Gly Single submitter ⚠
- p.Asp96Glu Single submitter ⚠
- p.Cys93Arg Single submitter ⚠
- p.Gln130Arg Single submitter ⚠
- p.Gln314Arg Single submitter ⚠
- p.Gln350Glu Single submitter ⚠
- p.Gln624Arg Single submitter ⚠
- p.Gln87Lys Single submitter ⚠
- p.Glu123Lys Single submitter ⚠
- p.Glu127Lys Single submitter ⚠
- p.Glu172Lys Single submitter ⚠
- p.Glu226Lys Single submitter ⚠
- p.Glu23Gly Single submitter ⚠
- p.Glu240Gln Single submitter ⚠
- p.Glu240Lys Single submitter ⚠
- p.Glu251Lys Single submitter ⚠
- p.Glu331Lys Single submitter ⚠
- p.Glu337Gln Single submitter ⚠
- p.Glu408Gly Single submitter ⚠
- p.Glu612Gln Single submitter ⚠
- p.Glu615Lys Single submitter ⚠
- p.Gly111Ser Single submitter ⚠
- p.Gly124Ser Single submitter ⚠
- p.Gly214Arg Single submitter ⚠
- p.Gly219Ser Single submitter ⚠
- p.Gly232Ser Single submitter ⚠
- p.Gly249Ala Single submitter ⚠
- p.Gly249Val Single submitter ⚠
- p.Gly272Cys Single submitter ⚠
- p.Gly295Ser Single submitter ⚠
- p.Gly30Ala Single submitter ⚠
- p.Gly312Arg Single submitter ⚠
- p.Gly355Cys Single submitter ⚠
- p.Gly381Arg Single submitter ⚠
- p.Gly435Val Single submitter ⚠
- p.Gly441Trp Single submitter ⚠
- p.Gly446Arg Single submitter ⚠
- p.Gly508Asp Single submitter ⚠
- p.Gly515Asp Single submitter ⚠
- p.Gly515Ser Single submitter ⚠
- p.Gly557Ala Single submitter ⚠
- p.Gly557Asp Single submitter ⚠
- p.Gly585Arg Single submitter ⚠
- p.Gly585Val Single submitter ⚠
- p.Gly587Ala Single submitter ⚠
- p.Gly587Arg Single submitter ⚠
- p.Gly605Arg Single submitter ⚠
- p.Gly611Arg Single submitter ⚠
- p.Gly611Trp Single submitter ⚠
- p.His187Gln Single submitter ⚠
- p.His206Gln Single submitter ⚠
- p.His234Arg Single submitter ⚠
- p.His234Gln Single submitter ⚠
- p.His33Tyr Single submitter ⚠
- p.His58Asn Single submitter ⚠
- p.His593Asn Single submitter ⚠
- p.His601Gln Single submitter ⚠
- p.His67Tyr Single submitter ⚠
- p.Ile225Phe Single submitter ⚠
- p.Ile285Met Single submitter ⚠
- p.Ile348Ser Single submitter ⚠
- p.Ile364Val Single submitter ⚠
- p.Ile528Leu Single submitter ⚠
- p.Ile532Thr Single submitter ⚠
- p.Ile550Thr Single submitter ⚠
- p.Ile580Val Single submitter ⚠
- p.Leu271Ile Single submitter ⚠
- p.Leu319Pro Single submitter ⚠
- p.Leu328Met Single submitter ⚠
- p.Leu619Val Single submitter ⚠
- p.Leu649Pro Single submitter ⚠
- p.Leu8Met Single submitter ⚠
- p.Lys366Glu Single submitter ⚠
- p.Lys394Asn Single submitter ⚠
- p.Lys394Gln Single submitter ⚠
- p.Lys400Met Single submitter ⚠
- p.Lys477Asn Single submitter ⚠
- p.Lys492del Single submitter
- p.Lys507Arg Single submitter ⚠
- p.Lys516Gln Single submitter ⚠
- p.Lys560Glu Single submitter ⚠
- p.Lys589Asn Single submitter ⚠
- p.Met138Val Single submitter ⚠
- p.Met365Val Single submitter ⚠
- p.Met401Arg Single submitter ⚠
- p.Met401Leu Single submitter ⚠
- p.Met426Arg Single submitter ⚠
- p.Met426Ile Single submitter ⚠
- p.Met426Thr Single submitter ⚠
- p.Phe143Leu Single submitter ⚠
- p.Phe185Val Single submitter ⚠
- p.Phe373Leu Single submitter ⚠
- p.Phe402Tyr Single submitter ⚠
- p.Phe478Leu Single submitter ⚠
- p.Phe478Tyr Single submitter ⚠
- p.Phe61Leu Single submitter ⚠
- p.Phe638Leu Single submitter ⚠
- p.Pro117Thr Single submitter ⚠
- p.Pro141His Single submitter ⚠
- p.Pro160Leu Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro36Leu Single submitter ⚠
- p.Pro372Ser Single submitter ⚠
- p.Pro389Ala Single submitter ⚠
- p.Pro404Ala Single submitter ⚠
- p.Pro480His Single submitter ⚠
- p.Pro480Thr Single submitter ⚠
- p.Pro4Gln Single submitter ⚠
- p.Pro545Ala Single submitter ⚠
- p.Pro603Leu Single submitter ⚠
- p.Pro618Leu Single submitter ⚠
- p.Pro625His Single submitter ⚠
- p.Ser216Arg Single submitter ⚠
- p.Ser267Cys Single submitter ⚠
- p.Ser311Arg Single submitter ⚠
- p.Ser343Gly Single submitter ⚠
- p.Ser429Leu Single submitter ⚠
- p.Ser626Leu Single submitter ⚠
- p.Ser630Asn Single submitter ⚠
- p.Ser630Ile Single submitter ⚠
- p.Ser642Thr Single submitter ⚠
- p.Ser69Leu Single submitter ⚠
- p.Ser77Phe Single submitter ⚠
- p.Thr200Lys Single submitter ⚠
- p.Thr329Lys Single submitter ⚠
- p.Thr329Met Single submitter ⚠
- p.Thr338Asn Single submitter ⚠
- p.Thr338Ile Single submitter ⚠
- p.Thr405Lys Single submitter ⚠
- p.Thr42Ser Single submitter ⚠
- p.Thr453Met Single submitter ⚠
- p.Thr470Met Single submitter ⚠
- p.Trp354Cys Single submitter ⚠
- p.Trp367Arg Single submitter ⚠
- p.Trp449Cys Single submitter ⚠
- p.Trp633Arg Single submitter ⚠
- p.Trp648Cys Single submitter ⚠
- p.Tyr296Cys Single submitter ⚠
- p.Tyr296Phe Single submitter ⚠
- p.Tyr306Cys Single submitter ⚠
- p.Tyr558Ter Single submitter
- p.Tyr637Asn Single submitter ⚠
- p.Tyr79Cys Single submitter ⚠
- p.Val114Ala Single submitter ⚠
- p.Val114Met Single submitter ⚠
- p.Val15Ile Single submitter ⚠
- p.Val194Met Single submitter ⚠
- p.Val421Ile Single submitter ⚠
- p.Val44Met Single submitter ⚠
- p.Val499Leu Single submitter ⚠
- p.Val502Met Single submitter ⚠
- p.Val577Ala Single submitter ⚠
- p.Ala205Thr No assertion criteria CPZ-related disorder ⚠
- p.Gly575Arg No assertion criteria CPZ-related disorder ⚠