CEBPE — 235 ClinVar variants
All ClinVar germline CEBPE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →
9 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Conflicting · 7 Benign · 4 Benign/Likely benign · 88 Likely benign · 123 Uncertain significance
Full CEBPE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 119
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CEBPE p.Gly163Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CEBPE p.Ala119Val
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Ala171Asp
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Arg125Gln
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Arg135Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Arg167Cys
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Arg227Lys
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Glu19Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Glu50Gln
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Gly103Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Gly196Ser
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Gly28Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Gly96Ser
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.His194Pro
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Ile40Thr
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Leu166Val
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Leu173Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Leu69Phe
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Pro189Ser
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Pro192Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Pro82Leu
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Thr175Ser
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Val168Ile
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Ala117Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Ala146Ser
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Ala146Val
Uncertain significance
Single submitter
specific granule deficiency
- CEBPE p.Ala171Gly Uncertain significance Single submitter
-
CEBPE p.Ala171Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Ala241Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg125Trp
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg131Gln
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg213Cys
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg213His
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg24Gln
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg67Gly
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg86Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Asn201Asp
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Asp258Asn
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Asp41Asn
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Asp41Gly
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Asp56Asn
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Asp98His
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Cys34Ser
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Cys9Gly
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Cys9Tyr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Glu251Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Glu35Asp
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Gly22Arg
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Gly73Arg
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.His194Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.His36Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.His36Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.His3Gln
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Ile106Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Ile274Val
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Leu184Pro
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Leu260Arg
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Leu260Phe
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Leu42Ile
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Leu53Phe
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Lys185Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Lys70Glu
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Phe264Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Pro115Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Pro157Ser
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Pro179Leu
Uncertain significance
Single submitter
specific granule deficiency
- CEBPE p.Pro27Ser Uncertain significance Single submitter
-
CEBPE p.Pro82Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Ser112Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Ser181Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Ser204Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Ser221Asn
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Tyr7Cys
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Val118Leu
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Val250Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 44
The independent predictors disagree with each other — read with care.
-
CEBPE p.Ala101Val
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Gly49Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Leu155Met
Benign/Likely benign
Multiple submitters
specific granule deficiency
-
CEBPE p.Leu205Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Pro162Thr
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Pro91Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEBPE p.Ser112Asn
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Ser137Asn
Uncertain significance
Multiple submitters
specific granule deficiency
-
CEBPE p.Ala119Glu
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Ala44Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Ala63Val
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Ala76Val
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg12Trp
Benign
Single submitter
specific granule deficiency
- CEBPE p.Arg227Thr Uncertain significance Single submitter
-
CEBPE p.Arg245Cys
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg247His
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg265Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Arg265His
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Arg86Trp
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Asn262His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Asp114Asn
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Glu122Asp
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Glu238Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Glu35Lys
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Glu47Ala
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Glu8Lys
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Gly103Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Gly13Val
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Gly196Asp
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Gly196Cys
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Gly278Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Gly4Arg
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Leu183Phe
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Pro104Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Pro110Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Pro115Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Pro62Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Pro75Thr
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Pro78Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Ser248Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEBPE p.Ser281Asn
Conflicting
Single submitter
specific granule deficiency 1
- CEBPE p.Val277Met Uncertain significance Single submitter
-
CEBPE p.Val60Met
Uncertain significance
Single submitter
specific granule deficiency
-
CEBPE p.Gly73Val
Uncertain significance
No assertion criteria
CEBPE-related disorder
All CEBPE variants
Pathogenic 9
- p.Arg131Ter Single submitter specific granule deficiency
- p.Arg135Ter Single submitter specific granule deficiency
- p.Gly68fs Single submitter specific granule deficiency
- p.Tyr7fs Single submitter specific granule deficiency
- p.Ala171fs No assertion criteria specific granule deficiency 1
- p.Arg219His No assertion criteria Pelger-Huet-like anomaly and episodic fever with abdominal pain
- p.Asp84fs No assertion criteria specific granule deficiency 1
- p.Lys220fs No assertion criteria specific granule deficiency 1
- p.Ser248_Arg249del No assertion criteria specific granule deficiency 1
Pathogenic/Likely pathogenic 1
- p.Arg24Ter Multiple submitters specific granule deficiency
Likely pathogenic 1
- p.Val218Ala Single submitter specific granule deficiency 1
Conflicting classifications of pathogenicity 2
- p.Gly163Ser Single submitter Inborn genetic diseases ⚠
- p.Ser281Asn Single submitter specific granule deficiency 1 ⚠
Benign 7
- c.511-15T>G Multiple submitters specific granule deficiency
- c.511-24G>A Multiple submitters specific granule deficiency
- p.Arg249= Multiple submitters specific granule deficiency
- c.-20G>A Single submitter
- c.*15T>C Single submitter
- p.Arg12Trp Single submitter specific granule deficiency ⚠
- p.Pro75= Single submitter specific granule deficiency
Benign/Likely benign 4
- p.Ala186= Multiple submitters specific granule deficiency
- p.Leu155Met Multiple submitters specific granule deficiency ⚠
- p.Pro162= Multiple submitters specific granule deficiency
- p.Pro78= Multiple submitters specific granule deficiency
Likely benign 88
- p.Arg12Gln Multiple submitters specific granule deficiency
- p.Gly276= Multiple submitters specific granule deficiency
- p.Ile46= Multiple submitters specific granule deficiency
- p.Ser43= Multiple submitters specific granule deficiency
- c.510+10G>A Single submitter specific granule deficiency
- c.510+15G>A Single submitter specific granule deficiency
- c.510+16C>A Single submitter specific granule deficiency
- c.510+17C>T Single submitter specific granule deficiency
- c.510+18C>T Single submitter specific granule deficiency
- c.510+8C>G Single submitter specific granule deficiency
- c.511-13C>G Single submitter specific granule deficiency
- c.511-17C>T Single submitter specific granule deficiency
- c.511-20C>G Single submitter specific granule deficiency
- c.511-24_511-19dup Single submitter specific granule deficiency
- c.511-7C>T Single submitter specific granule deficiency
- c.511-9C>G Single submitter specific granule deficiency
- c.511-9C>T Single submitter specific granule deficiency
- c.-7del Single submitter
- p.Ala101= Single submitter specific granule deficiency
- p.Ala117= Single submitter specific granule deficiency
- p.Ala119= Single submitter specific granule deficiency
- p.Ala133= Single submitter specific granule deficiency
- p.Ala174= Single submitter specific granule deficiency
- p.Ala176= Single submitter specific granule deficiency
- p.Ala217= Single submitter specific granule deficiency
- p.Ala241= Single submitter specific granule deficiency
- p.Ala270= Single submitter specific granule deficiency
- p.Ala271= Single submitter specific granule deficiency
- p.Ala59= Single submitter specific granule deficiency
- p.Ala63= Single submitter specific granule deficiency
- p.Ala76= Single submitter specific granule deficiency
- p.Arg125= Single submitter specific granule deficiency
- p.Arg167= Single submitter specific granule deficiency
- p.Arg208= Single submitter specific granule deficiency
- p.Arg265= Single submitter specific granule deficiency
- p.Asn201= Single submitter specific granule deficiency
- p.Asn214= Single submitter specific granule deficiency
- p.Asn215= Single submitter specific granule deficiency
- p.Asn243= Single submitter specific granule deficiency
- p.Asn262= Single submitter specific granule deficiency
- p.Asp203= Single submitter specific granule deficiency
- p.Asp223= Single submitter specific granule deficiency
- p.Cys148= Single submitter specific granule deficiency
- p.Gln16= Single submitter specific granule deficiency
- p.Gln266= Single submitter specific granule deficiency
- p.Gln52= Single submitter specific granule deficiency
- p.Glu212= Single submitter specific granule deficiency
- p.Glu238= Single submitter specific granule deficiency
- p.Gly14= Single submitter specific granule deficiency
- p.Gly191= Single submitter specific granule deficiency
- p.Gly22= Single submitter specific granule deficiency
- p.Gly71= Single submitter specific granule deficiency
- p.His3= Single submitter specific granule deficiency
- p.His93= Single submitter specific granule deficiency
- p.Leu18= Single submitter specific granule deficiency
- p.Leu209= Single submitter specific granule deficiency
- p.Leu237= Single submitter specific granule deficiency
- p.Leu263= Single submitter specific granule deficiency
- p.Leu273= Single submitter specific granule deficiency
- p.Leu53= Single submitter specific granule deficiency
- p.Leu57= Single submitter specific granule deficiency
- p.Leu69= Single submitter specific granule deficiency
- p.Lys100= Single submitter specific granule deficiency
- p.Lys185= Single submitter specific granule deficiency
- p.Pro110= Single submitter specific granule deficiency
- p.Pro178= Single submitter specific granule deficiency
- p.Pro179= Single submitter specific granule deficiency
- p.Pro182= Single submitter specific granule deficiency
- p.Pro189= Single submitter specific granule deficiency
- p.Pro268= Single submitter specific granule deficiency
- p.Pro27= Single submitter specific granule deficiency
- p.Pro72= Single submitter specific granule deficiency
- p.Pro83= Single submitter specific granule deficiency
- p.Ser188= Single submitter specific granule deficiency
- p.Ser55= Single submitter specific granule deficiency
- p.Thr158= Single submitter specific granule deficiency
- p.Thr175= Single submitter specific granule deficiency
- p.Thr74= Single submitter specific granule deficiency
- p.Tyr113= Single submitter specific granule deficiency
- p.Tyr6= Single submitter specific granule deficiency
- p.Tyr7= Single submitter specific granule deficiency
- p.Tyr80= Single submitter specific granule deficiency
- p.Tyr90= Single submitter specific granule deficiency
- p.Val118= Single submitter
- p.Val120= Single submitter specific granule deficiency
- p.Val145= Single submitter specific granule deficiency
- p.Val168= Single submitter specific granule deficiency
- p.Val277= Single submitter specific granule deficiency
Uncertain significance 123
- p.Ala101Val Multiple submitters specific granule deficiency ⚠
- p.Ala119Val Multiple submitters specific granule deficiency ⚠
- p.Ala171Asp Multiple submitters specific granule deficiency ⚠
- p.Arg125Gln Multiple submitters specific granule deficiency ⚠
- p.Arg135Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg167Cys Multiple submitters specific granule deficiency ⚠
- p.Arg227Lys Multiple submitters specific granule deficiency ⚠
- p.Glu19Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu50Gln Multiple submitters specific granule deficiency ⚠
- p.Gly103Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly196Ser Multiple submitters specific granule deficiency ⚠
- p.Gly28Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly49Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly96Ser Multiple submitters specific granule deficiency ⚠
- p.His194Pro Multiple submitters specific granule deficiency ⚠
- p.Ile40Thr Multiple submitters specific granule deficiency ⚠
- p.Leu166Val Multiple submitters specific granule deficiency ⚠
- p.Leu173Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu205Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu69Phe Multiple submitters specific granule deficiency ⚠
- p.Pro162Thr Multiple submitters specific granule deficiency ⚠
- p.Pro189Ser Multiple submitters specific granule deficiency ⚠
- p.Pro192Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro82Leu Multiple submitters specific granule deficiency ⚠
- p.Pro91Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser112Asn Multiple submitters specific granule deficiency ⚠
- p.Ser137Asn Multiple submitters specific granule deficiency ⚠
- p.Thr175Ser Multiple submitters specific granule deficiency ⚠
- p.Val168Ile Multiple submitters specific granule deficiency ⚠
- c.510+6A>G Single submitter specific granule deficiency
- c.-17G>A Single submitter
- c.-4G>A Single submitter
- p.Ala117Thr Single submitter specific granule deficiency ⚠
- p.Ala119Glu Single submitter specific granule deficiency ⚠
- p.Ala132_Arg135del Single submitter specific granule deficiency
- p.Ala146Ser Single submitter specific granule deficiency ⚠
- p.Ala146Val Single submitter specific granule deficiency ⚠
- p.Ala171Gly Single submitter ⚠
- p.Ala171Thr Single submitter specific granule deficiency ⚠
- p.Ala190fs Single submitter specific granule deficiency
- p.Ala241Thr Single submitter specific granule deficiency ⚠
- p.Ala44Thr Single submitter specific granule deficiency ⚠
- p.Ala63Val Single submitter specific granule deficiency ⚠
- p.Ala76Val Single submitter specific granule deficiency ⚠
- p.Arg125Trp Single submitter specific granule deficiency ⚠
- p.Arg131Gln Single submitter specific granule deficiency ⚠
- p.Arg213Cys Single submitter specific granule deficiency ⚠
- p.Arg213His Single submitter specific granule deficiency ⚠
- p.Arg219= Single submitter specific granule deficiency
- p.Arg227Thr Single submitter ⚠
- p.Arg245Cys Single submitter specific granule deficiency ⚠
- p.Arg247His Single submitter specific granule deficiency ⚠
- p.Arg24Gln Single submitter specific granule deficiency ⚠
- p.Arg265Cys Single submitter Inborn genetic diseases ⚠
- p.Arg265His Single submitter specific granule deficiency ⚠
- p.Arg67Gly Single submitter specific granule deficiency ⚠
- p.Arg86Gln Single submitter Inborn genetic diseases ⚠
- p.Arg86Trp Single submitter specific granule deficiency ⚠
- p.Asn201Asp Single submitter specific granule deficiency ⚠
- p.Asn262His Single submitter Inborn genetic diseases ⚠
- p.Asp114Asn Single submitter specific granule deficiency ⚠
- p.Asp258Asn Single submitter specific granule deficiency ⚠
- p.Asp41Asn Single submitter specific granule deficiency ⚠
- p.Asp41Gly Single submitter specific granule deficiency ⚠
- p.Asp56Asn Single submitter specific granule deficiency ⚠
- p.Asp98His Single submitter specific granule deficiency ⚠
- p.Cys34Ser Single submitter specific granule deficiency ⚠
- p.Cys9Gly Single submitter specific granule deficiency ⚠
- p.Cys9Tyr Single submitter specific granule deficiency ⚠
- p.Glu122Asp Single submitter specific granule deficiency ⚠
- p.Glu238Gln Single submitter Inborn genetic diseases ⚠
- p.Glu251Gln Single submitter Inborn genetic diseases ⚠
- p.Glu35Asp Single submitter specific granule deficiency ⚠
- p.Glu35Lys Single submitter specific granule deficiency ⚠
- p.Glu47Ala Single submitter specific granule deficiency ⚠
- p.Glu8Lys Single submitter specific granule deficiency ⚠
- p.Gly103Trp Single submitter Inborn genetic diseases ⚠
- p.Gly13Val Single submitter specific granule deficiency ⚠
- p.Gly196Asp Single submitter specific granule deficiency ⚠
- p.Gly196Cys Single submitter specific granule deficiency ⚠
- p.Gly22Arg Single submitter specific granule deficiency ⚠
- p.Gly278Glu Single submitter Inborn genetic diseases ⚠
- p.Gly4Arg Single submitter specific granule deficiency ⚠
- p.Gly73Arg Single submitter specific granule deficiency ⚠
- p.His194Asn Single submitter Inborn genetic diseases ⚠
- p.His36Arg Single submitter Inborn genetic diseases ⚠
- p.His36Tyr Single submitter Inborn genetic diseases ⚠
- p.His3Gln Single submitter specific granule deficiency ⚠
- p.Ile106Ser Single submitter Inborn genetic diseases ⚠
- p.Ile274Val Single submitter specific granule deficiency ⚠
- p.Leu183Phe Single submitter specific granule deficiency ⚠
- p.Leu184Pro Single submitter specific granule deficiency ⚠
- p.Leu260Arg Single submitter specific granule deficiency ⚠
- p.Leu260Phe Single submitter specific granule deficiency ⚠
- p.Leu42Ile Single submitter specific granule deficiency ⚠
- p.Leu53Phe Single submitter specific granule deficiency ⚠
- p.Lys185Thr Single submitter specific granule deficiency ⚠
- p.Lys275Ter Single submitter specific granule deficiency
- p.Lys70Glu Single submitter specific granule deficiency ⚠
- p.Phe264Val Single submitter Inborn genetic diseases ⚠
- p.Pro104Arg Single submitter Inborn genetic diseases ⚠
- p.Pro110Thr Single submitter specific granule deficiency ⚠
- p.Pro115Leu Single submitter Inborn genetic diseases ⚠
- p.Pro115Thr Single submitter specific granule deficiency ⚠
- p.Pro157Ser Single submitter specific granule deficiency ⚠
- p.Pro179Leu Single submitter specific granule deficiency ⚠
- p.Pro27Ser Single submitter ⚠
- p.Pro62Gln Single submitter Inborn genetic diseases ⚠
- p.Pro75Thr Single submitter specific granule deficiency ⚠
- p.Pro78Leu Single submitter Inborn genetic diseases ⚠
- p.Pro82Ser Single submitter Inborn genetic diseases ⚠
- p.Ser112Ile Single submitter Inborn genetic diseases ⚠
- p.Ser181Gly Single submitter Inborn genetic diseases ⚠
- p.Ser204Thr Single submitter specific granule deficiency ⚠
- p.Ser221Asn Single submitter specific granule deficiency ⚠
- p.Ser248Arg Single submitter Inborn genetic diseases ⚠
- p.Thr151Ser Single submitter specific granule deficiency
- p.Tyr7Cys Single submitter specific granule deficiency ⚠
- p.Val118Leu Single submitter specific granule deficiency ⚠
- p.Val250Met Single submitter Inborn genetic diseases ⚠
- p.Val277Met Single submitter ⚠
- p.Val60Met Single submitter specific granule deficiency ⚠
- p.Gly73Val No assertion criteria CEBPE-related disorder ⚠