SEC23B — 725 ClinVar variants
All ClinVar germline SEC23B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 192 flagged for review →
36 Pathogenic · 16 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 41 Conflicting · 54 Benign · 18 Benign/Likely benign · 328 Likely benign · 200 Uncertain significance
Full SEC23B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 192
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.
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SEC23B p.Arg18His
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Arg313Cys
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Arg530Trp
Conflicting
Single submitter
Cowden syndrome 7
-
SEC23B p.Arg701His
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Arg718Gln Conflicting Single submitter
-
SEC23B p.Asp239Gly
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Asp348Gly
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Cys74Tyr
Conflicting
Single submitter
SEC23B-related disorder
-
SEC23B p.Gln145Arg
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Glu248Lys Conflicting Single submitter
-
SEC23B p.Glu439Asp
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Gly532Ala
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Leu527Ser
Conflicting
Single submitter
Cowden syndrome 7
-
SEC23B p.Met620Thr
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Met620Val
Conflicting
Single submitter
Cowden syndrome 7
-
SEC23B p.Pro25His
Conflicting
Single submitter
Cowden syndrome 7
-
SEC23B p.Thr257Ile
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Thr710Met
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Val120Met
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
Predictors lean, ClinVar uncertain 126
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SEC23B p.Ala2Thr Uncertain significance Multiple submitters
-
SEC23B p.Ala329Pro
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ala536Glu
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ala68Thr
Uncertain significance
Multiple submitters
Cowden syndrome 7
-
SEC23B p.Arg217Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Arg28Trp
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Arg401Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Arg495Cys
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Arg546Trp
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
- SEC23B p.Arg706His Uncertain significance Multiple submitters
-
SEC23B p.Arg79Gln
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Asn597Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Asn709Ser
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Asn71His
Uncertain significance
Multiple submitters
SEC23B-related disorder
-
SEC23B p.Asp454Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Asp676Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Gln447Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Gly267Val
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.His236Gln
Uncertain significance
Multiple submitters
Cowden syndrome 7
-
SEC23B p.His608Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Ile418Met
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ile496Val
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
- SEC23B p.Leu625Ile Uncertain significance Multiple submitters
-
SEC23B p.Phe559Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Pro703Leu
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Pro96Ala
Uncertain significance
Multiple submitters
Cowden syndrome 7
-
SEC23B p.Ser715Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Ser765Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Thr297Ile
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Tyr372Cys
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
- SEC23B p.Val35Ile Uncertain significance Multiple submitters
-
SEC23B p.Ala2Val
Uncertain significance
Single submitter
Cowden syndrome 7
- SEC23B p.Ala700Val Uncertain significance Single submitter
-
SEC23B p.Ala84Val
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Arg14Gln
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Arg18Cys Uncertain significance Single submitter
-
SEC23B p.Arg264Gln
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Arg28Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Arg313Leu Uncertain significance Single submitter
-
SEC23B p.Arg414Pro
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Arg414Trp Uncertain significance Single submitter
- SEC23B p.Arg48Cys Uncertain significance Single submitter
-
SEC23B p.Arg497Leu
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Arg503Gln Uncertain significance Single submitter
-
SEC23B p.Arg546Leu
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Asn22Asp Uncertain significance Single submitter
- SEC23B p.Asn22Lys Uncertain significance Single submitter
-
SEC23B p.Asn343Asp
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Asn367Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Asn467Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Asn467Ser
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Asn597Lys Uncertain significance Single submitter
- SEC23B p.Asp15His Uncertain significance Single submitter
-
SEC23B p.Asp613Val
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Asp748Asn
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Asp748His
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Cys352Arg
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Cys425Trp Uncertain significance Single submitter
- SEC23B p.Cys451Tyr Uncertain significance Single submitter
-
SEC23B p.Cys66Tyr
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Gln509Glu Uncertain significance Single submitter
-
SEC23B p.Gln511Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Gln55Pro
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Glu118Gly Uncertain significance Single submitter
-
SEC23B p.Glu12Val
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Glu30Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Glu30Lys Uncertain significance Single submitter
-
SEC23B p.Glu415Gly
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Glu679Lys
Uncertain significance
Single submitter
Cowden syndrome 7
- SEC23B p.Gly267Asp Uncertain significance Single submitter
-
SEC23B p.Gly285Arg
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Gly293Arg Uncertain significance Single submitter
-
SEC23B p.Gly299Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Gly299Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Gly301Asp
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Gly305Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Gly358Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Gly673Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Gly737Glu
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.His608Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.His631Arg Uncertain significance Single submitter
- SEC23B p.Ile117Thr Uncertain significance Single submitter
-
SEC23B p.Ile238Val
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Ile272Val Uncertain significance Single submitter
-
SEC23B p.Ile422Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Ile644Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Leu246Phe Uncertain significance Single submitter
-
SEC23B p.Leu29Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Leu359Phe Uncertain significance Single submitter
- SEC23B p.Leu41Pro Uncertain significance Single submitter
-
SEC23B p.Leu512Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Leu552Phe
Uncertain significance
Single submitter
SEC23B-related disorder
- SEC23B p.Leu618Phe Uncertain significance Single submitter
-
SEC23B p.Leu691Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Leu698Gln Uncertain significance Single submitter
-
SEC23B p.Leu70Phe
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Leu82Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Lys260Asn
Uncertain significance
Single submitter
Cowden syndrome 7
-
SEC23B p.Lys411Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Lys417Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Met289Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Met362Ile Uncertain significance Single submitter
- SEC23B p.Phe231Val Uncertain significance Single submitter
-
SEC23B p.Phe404Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Phe519Leu
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Phe576Val Uncertain significance Single submitter
-
SEC23B p.Pro107Thr
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Pro49Leu
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Pro599Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Pro634Leu Uncertain significance Single submitter
- SEC23B p.Ser102Tyr Uncertain significance Single submitter
-
SEC23B p.Ser265Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Ser577Phe
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ser62Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Thr292Ile Uncertain significance Single submitter
-
SEC23B p.Thr32Ala
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Thr381Ile
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Thr412Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Thr456Ala
Uncertain significance
Single submitter
Cowden syndrome 7
-
SEC23B p.Thr471Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Thr492Ile
Uncertain significance
Single submitter
Cowden syndrome 7
- SEC23B p.Tyr333Cys Uncertain significance Single submitter
-
SEC23B p.Tyr372Phe
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Tyr604His Uncertain significance Single submitter
-
SEC23B p.Val274Ile
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Val594Gly
Uncertain significance
Single submitter
Cowden syndrome 7
Predictors split 46
The independent predictors disagree with each other — read with care.
-
SEC23B p.Arg495His
Benign/Likely benign
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Arg611Trp
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
- SEC23B p.Asn86Asp Uncertain significance Multiple submitters
-
SEC23B p.Asp306Asn
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Gly205Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Ile130Thr
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Leu42His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SEC23B p.Pro433Leu
Benign/Likely benign
Multiple submitters
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ala31Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Ala323Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Ala329Ser
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ala502Thr
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Ala536Val Uncertain significance Single submitter
- SEC23B p.Ala717Ser Uncertain significance Single submitter
-
SEC23B p.Arg513Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Arg611Gln Uncertain significance Single submitter
-
SEC23B p.Arg670Cys
Conflicting
Single submitter
Inborn genetic diseases
-
SEC23B p.Arg670His
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Arg79Gly
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Asp692Asn Uncertain significance Single submitter
-
SEC23B p.Gln113Pro
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Gln258Arg
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Gln55Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Gln728His Uncertain significance Single submitter
-
SEC23B p.Gly344Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.His585Tyr
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ile515Thr
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ile619Met
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Leu270Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Leu618Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Lys671Glu
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Lys723Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Met755Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Phe400Leu
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Phe400Val Uncertain significance Single submitter
-
SEC23B p.Phe534Leu
Uncertain significance
Single submitter
Cowden syndrome 7
-
SEC23B p.Phe683Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SEC23B p.Pro262Ser Uncertain significance Single submitter
-
SEC23B p.Pro472Leu
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Pro474Arg
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ser382Thr
Likely benign
Single submitter
congenital dyserythropoietic anemia type 2
-
SEC23B p.Ser641Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Thr654Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SEC23B p.Tyr462Cys
Conflicting
Single submitter
congenital dyserythropoietic anemia type 2
- SEC23B p.Val17Ala Uncertain significance Single submitter
-
SEC23B p.Val410Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All SEC23B variants
Pathogenic 36
- p.Arg264Ter Multiple submitters Cowden syndrome 7
- p.Arg339Ter Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg401Ter Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg497Cys Multiple submitters SEC23B-related disorder
- p.Arg535Ter Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg550Ter Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg554Ter Multiple submitters congenital dyserythropoietic anemia type 2
- p.Gln214Ter Multiple submitters congenital dyserythropoietic anemia type 2
- p.Glu109Lys Multiple submitters SEC23B-related disorder
- c.1109+1G>A Single submitter
- c.221+2T>C Single submitter
- c.279+2T>C Single submitter congenital dyserythropoietic anemia type 2
- p.Ala329fs Single submitter congenital dyserythropoietic anemia type 2
- p.Arg513fs Single submitter Cowden syndrome 7
- p.Arg611fs Single submitter congenital dyserythropoietic anemia type 2
- p.Arg79Ter Single submitter congenital dyserythropoietic anemia type 2
- p.Asn731fs Single submitter congenital dyserythropoietic anemia type 2
- p.Asp377fs Single submitter congenital dyserythropoietic anemia type 2
- p.Gln113fs Single submitter congenital dyserythropoietic anemia type 2
- p.Gln468Ter Single submitter congenital dyserythropoietic anemia type 2
- p.Gln521Ter Single submitter
- p.Gln581Ter Single submitter Cowden syndrome 7
- p.Gln738Ter Single submitter congenital dyserythropoietic anemia type 2
- p.Glu664Ter Single submitter congenital dyserythropoietic anemia type 2
- p.Gly182fs Single submitter congenital dyserythropoietic anemia type 2
- p.Gly443fs Single submitter Cowden syndrome 7
- p.His585fs Single submitter
- p.Ile272fs Single submitter Cowden syndrome 7
- p.Leu132fs Single submitter Cowden syndrome 7
- p.Leu195fs Single submitter congenital dyserythropoietic anemia type 2
- p.Leu578Pro Single submitter congenital dyserythropoietic anemia type 2
- p.Phe291fs Single submitter congenital dyserythropoietic anemia type 2
- p.Phe463fs Single submitter Cowden syndrome 7
- p.Trp83Ter Single submitter congenital dyserythropoietic anemia type 2
- p.Tyr734Ter Single submitter congenital dyserythropoietic anemia type 2
- p.Val637fs Single submitter congenital dyserythropoietic anemia type 2
Pathogenic/Likely pathogenic 16
- c.835-2A>G Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ala524Val Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ala717fs Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg14Trp Multiple submitters SEC23B-related disorder
- p.Arg313His Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg324Ter Multiple submitters SEC23B-related disorder
- p.Arg503Ter Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg554fs Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg571Ter Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg701Cys Multiple submitters SEC23B-related disorder
- p.Arg718Ter Multiple submitters SEC23B-related disorder
- p.Asp693delinsGlyTer Multiple submitters congenital dyserythropoietic anemia type 2
- p.Glu415fs Multiple submitters congenital dyserythropoietic anemia type 2
- p.His631fs Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ile318Thr Multiple submitters congenital dyserythropoietic anemia type 2
- p.Trp254Ter Multiple submitters congenital dyserythropoietic anemia type 2
Likely pathogenic 32
- c.1314+1G>A Multiple submitters congenital dyserythropoietic anemia type 2
- c.1511+2_1511+5del Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg530Gln Multiple submitters Cowden syndrome 7
- c.1109+1G>C Single submitter congenital dyserythropoietic anemia type 2
- c.1233_1233+1dup Single submitter congenital dyserythropoietic anemia type 2
- c.1314_1314+10del Single submitter congenital dyserythropoietic anemia type 2
- c.1314+1G>T Single submitter Cowden syndrome 7
- c.1404+5G>A Single submitter Cowden syndrome 7
- c.1512-1G>T Single submitter SEC23B-related disorder
- c.1512-2A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1512-2A>T Single submitter congenital dyserythropoietic anemia type 2
- c.1905+1G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1906-2A>T Single submitter congenital dyserythropoietic anemia type 2
- c.2148+1G>T Single submitter congenital dyserythropoietic anemia type 2
- c.221+1G>A Single submitter congenital dyserythropoietic anemia type 2
- c.279+1G>A Single submitter congenital dyserythropoietic anemia type 2
- c.366+1G>A Single submitter congenital dyserythropoietic anemia type 2
- c.367-1G>T Single submitter congenital dyserythropoietic anemia type 2
- c.994-1G>T Single submitter Cowden syndrome 7
- p.Ala506Val Single submitter ⚠
- p.Ala524Thr Single submitter Susceptibility to severe COVID-19
- p.Asp395fs Single submitter
- p.Glu539fs Single submitter congenital dyserythropoietic anemia type 2
- p.Leu38fs Single submitter congenital dyserythropoietic anemia type 2
- p.Leu552fs Single submitter
- p.Lys449Ter Single submitter SEC23B-related disorder
- p.Phe656Leu Single submitter congenital dyserythropoietic anemia type 2
- p.Phe754fs Single submitter congenital dyserythropoietic anemia type 2
- p.Thr43fs Single submitter
- p.Thr445Arg Single submitter congenital dyserythropoietic anemia type 2
- p.Tyr579Cys Single submitter congenital dyserythropoietic anemia type 2
- p.Thr746Asn No assertion criteria congenital dyserythropoietic anemia type 2
Conflicting classifications of pathogenicity 41
- c.1234-11A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1512-10G>T Single submitter congenital dyserythropoietic anemia type 2
- c.1665+6T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1743+168A>G Single submitter congenital dyserythropoietic anemia type 2
- c.221+163A>G Single submitter congenital dyserythropoietic anemia type 2
- c.221+76A>G Single submitter Cowden syndrome 7
- c.222-7C>G Single submitter congenital dyserythropoietic anemia type 2
- p.Ala329Ser Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg18His Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg313Cys Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg530Trp Single submitter Cowden syndrome 7 ⚠
- p.Arg670Cys Single submitter Inborn genetic diseases ⚠
- p.Arg701His Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg718Gln Single submitter ⚠
- p.Asp239Gly Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Asp348Gly Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Asp756= Single submitter Cowden syndrome 7
- p.Cys74Tyr Single submitter SEC23B-related disorder ⚠
- p.Gln145Arg Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Gln258Arg Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Gln509= Single submitter congenital dyserythropoietic anemia type 2
- p.Glu248Lys Single submitter ⚠
- p.Glu439Asp Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Gly460= Single submitter congenital dyserythropoietic anemia type 2
- p.Gly532Ala Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.His585Tyr Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Leu360fs Single submitter Cowden syndrome 7
- p.Leu527Ser Single submitter Cowden syndrome 7 ⚠
- p.Met620Thr Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Met620Val Single submitter Cowden syndrome 7 ⚠
- p.Met677Ile Single submitter congenital dyserythropoietic anemia type 2
- p.Phe400Leu Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Pro25His Single submitter Cowden syndrome 7 ⚠
- p.Pro433= Single submitter congenital dyserythropoietic anemia type 2
- p.Ser603= Single submitter congenital dyserythropoietic anemia type 2
- p.Thr257Ile Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Thr471= Single submitter Cowden syndrome 7
- p.Thr710Met Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Tyr462Cys Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Tyr734= Single submitter congenital dyserythropoietic anemia type 2
- p.Val120Met Single submitter congenital dyserythropoietic anemia type 2 ⚠
Benign 54
- c.1109+49A>G Multiple submitters
- c.1233+25dup Multiple submitters
- c.1233+57T>C Multiple submitters
- c.1404+20_1404+21del Multiple submitters congenital dyserythropoietic anemia type 2
- c.1405-7C>T Multiple submitters congenital dyserythropoietic anemia type 2
- c.1665+48C>T Multiple submitters Cowden syndrome 7
- c.1906-234G>C Multiple submitters
- c.2214+165A>G Multiple submitters
- c.2215-198A>G Multiple submitters
- c.834+101C>T Multiple submitters
- c.834+40T>C Multiple submitters Cowden syndrome 7
- c.834+41G>A Multiple submitters Cowden syndrome 7
- c.-15+138G>C Multiple submitters
- p.Ile272= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Leu687= Multiple submitters congenital dyserythropoietic anemia type 2
- c.1110-13dup Single submitter congenital dyserythropoietic anemia type 2
- c.1110-150T>C Single submitter
- c.1233+225T>C Single submitter
- c.1233+9_1233+11delinsGACT Single submitter
- c.1233+9_1233+12delinsGAC Single submitter
- c.1314+144C>T Single submitter
- c.1314+217C>T Single submitter
- c.1315-211T>C Single submitter
- c.1404+202T>C Single submitter
- c.1405-281G>A Single submitter
- c.1665+142G>T Single submitter
- c.1665+211A>G Single submitter
- c.1666-148G>C Single submitter congenital dyserythropoietic anemia type 2
- c.1744-146G>C Single submitter
- c.1744-17G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1744-272C>A Single submitter
- c.1906-251del Single submitter
- c.1993-16G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1993-302del Single submitter
- c.2148+241T>C Single submitter
- c.2149-130_2149-101del Single submitter
- c.2149-250T>C Single submitter
- c.2149-266dup Single submitter
- c.2149-267_2149-266dup Single submitter
- c.221+228A>G Single submitter
- c.221+351A>G Single submitter
- c.221+462_221+463del Single submitter
- c.221+463del Single submitter
- c.2214+275T>G Single submitter
- c.222-358C>T Single submitter
- c.280-171G>T Single submitter
- c.280-200A>G Single submitter
- c.604-6_604-4del Single submitter congenital dyserythropoietic anemia type 2
- c.690-146_690-144del Single submitter
- c.690-273T>C Single submitter
- c.690-305A>G Single submitter
- c.835-192C>G Single submitter
- c.994-282C>A Single submitter
- c.*657A>G Single submitter congenital dyserythropoietic anemia type 2
Benign/Likely benign 18
- c.1233+9A>G Multiple submitters congenital dyserythropoietic anemia type 2
- c.1744-20T>A Multiple submitters congenital dyserythropoietic anemia type 2
- c.604-4del Multiple submitters congenital dyserythropoietic anemia type 2
- c.834+116A>G Multiple submitters Cowden syndrome 7
- c.835-7A>G Multiple submitters Cowden syndrome 7
- c.993+10C>G Multiple submitters congenital dyserythropoietic anemia type 2
- c.993+19G>A Multiple submitters Cowden syndrome 7
- c.-24C>T Multiple submitters congenital dyserythropoietic anemia type 2
- c.*9_*10del Multiple submitters
- p.Ala766= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg495His Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Arg550Gln Multiple submitters congenital dyserythropoietic anemia type 2
- p.Asn22= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Asn504= Multiple submitters Cowden syndrome 7
- p.His489Gln Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ile501= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Pro433Leu Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Val426Ile Multiple submitters congenital dyserythropoietic anemia type 2
Likely benign 328
Showing the top 300 by review status; the full set is in the sitemap.
- c.1743+20A>G Multiple submitters congenital dyserythropoietic anemia type 2
- c.2149-21TTG[4] Multiple submitters Cowden syndrome 7
- c.279+18A>T Multiple submitters Cowden syndrome 7
- c.280-6T>C Multiple submitters congenital dyserythropoietic anemia type 2
- c.366+13T>A Multiple submitters congenital dyserythropoietic anemia type 2
- c.835-10G>A Multiple submitters congenital dyserythropoietic anemia type 2
- c.835-11C>T Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ala536= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg495= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Arg497= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Cys425= Multiple submitters Cowden syndrome 7
- p.Gln215= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Gly299= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Gly713= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ile318= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Leu408= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Leu578= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Phe291= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Phe559= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ser589= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ser602= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Thr330= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Thr357= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Thr485= Multiple submitters Cowden syndrome 7
- p.Thr654= Multiple submitters congenital dyserythropoietic anemia type 2
- p.Tyr628= Multiple submitters congenital dyserythropoietic anemia type 2
- c.1109+10C>G Single submitter congenital dyserythropoietic anemia type 2
- c.1109+11A>C Single submitter congenital dyserythropoietic anemia type 2
- c.1109+19C>A Single submitter congenital dyserythropoietic anemia type 2
- c.1109+7T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1110-20A>T Single submitter congenital dyserythropoietic anemia type 2
- c.1110-5C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1233+10A>C Single submitter congenital dyserythropoietic anemia type 2
- c.1233+12T>A Single submitter congenital dyserythropoietic anemia type 2
- c.1233+14_1233+15insA Single submitter Cowden syndrome 7
- c.1233+15T>A Single submitter congenital dyserythropoietic anemia type 2
- c.1233+24_1233+25del Single submitter
- c.1233+25del Single submitter
- c.1233+8_1233+9insG Single submitter congenital dyserythropoietic anemia type 2
- c.1234-13A>C Single submitter congenital dyserythropoietic anemia type 2
- c.1234-13A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1234-13A>T Single submitter congenital dyserythropoietic anemia type 2
- c.1234-13del Single submitter Cowden syndrome 7
- c.1234-14_1234-13del Single submitter congenital dyserythropoietic anemia type 2
- c.1234-16C>A Single submitter congenital dyserythropoietic anemia type 2
- c.1234-17T>C Single submitter
- c.1234-18G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1234-20C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1314+12A>T Single submitter congenital dyserythropoietic anemia type 2
- c.1314+16C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1314+18A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1315-16C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1315-4C>G Single submitter congenital dyserythropoietic anemia type 2
- c.1315-5C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1315-6C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1315-7C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1315-8A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1404+17C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1404+20A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1404+7T>G Single submitter
- c.1405-15C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1511+12C>A Single submitter Cowden syndrome 7
- c.1511+18C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1511+21_1511+24del Single submitter congenital dyserythropoietic anemia type 2
- c.1512-11G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1512-19C>A Single submitter congenital dyserythropoietic anemia type 2
- c.1512-5G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1512-7T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1665+14A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1665+17G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1665+18G>A Single submitter Cowden syndrome 7
- c.1665+208C>T Single submitter
- c.1665+20A>T Single submitter congenital dyserythropoietic anemia type 2
- c.1665+8G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1666-16T>G Single submitter congenital dyserythropoietic anemia type 2
- c.1744-10G>C Single submitter congenital dyserythropoietic anemia type 2
- c.1744-14del Single submitter congenital dyserythropoietic anemia type 2
- c.1744-16T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1744-18C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1744-8G>A Single submitter Cowden syndrome 7
- c.1905+10dup Single submitter congenital dyserythropoietic anemia type 2
- c.1905+12C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1905+16A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1905+8T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1905+8T>G Single submitter congenital dyserythropoietic anemia type 2
- c.1905+9C>A Single submitter congenital dyserythropoietic anemia type 2
- c.1906-11T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1906-12_1906-9del Single submitter congenital dyserythropoietic anemia type 2
- c.1906-18_1906-14del Single submitter congenital dyserythropoietic anemia type 2
- c.1906-18C>G Single submitter congenital dyserythropoietic anemia type 2
- c.1906-18C>T Single submitter congenital dyserythropoietic anemia type 2
- c.1906-19TC[2] Single submitter congenital dyserythropoietic anemia type 2
- c.1906-19TC[3] Single submitter congenital dyserythropoietic anemia type 2
- c.1906-7T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1906-8_1906-7del Single submitter congenital dyserythropoietic anemia type 2
- c.1992+12T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1992+14ATTA[2] Single submitter congenital dyserythropoietic anemia type 2
- c.1992+15_1992+17del Single submitter congenital dyserythropoietic anemia type 2
- c.1992+17A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1992+17A>T Single submitter Cowden syndrome 7
- c.1992+8_1992+10del Single submitter congenital dyserythropoietic anemia type 2
- c.1992+8G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1993-12G>A Single submitter Cowden syndrome 7
- c.1993-18T>C Single submitter congenital dyserythropoietic anemia type 2
- c.1993-20G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1993-6G>C Single submitter congenital dyserythropoietic anemia type 2
- c.1993-7T>C Single submitter congenital dyserythropoietic anemia type 2
- c.2148+10C>T Single submitter congenital dyserythropoietic anemia type 2
- c.2148+16_2148+17insAGAGT Single submitter congenital dyserythropoietic anemia type 2
- c.2148+17C>G Single submitter congenital dyserythropoietic anemia type 2
- c.2148+7G>A Single submitter congenital dyserythropoietic anemia type 2
- c.2149-12T>C Single submitter congenital dyserythropoietic anemia type 2
- c.2149-13G>C Single submitter congenital dyserythropoietic anemia type 2
- c.2149-19G>T Single submitter congenital dyserythropoietic anemia type 2
- c.2149-21TTG[3] Single submitter
- c.2149-268_2149-266dup Single submitter
- c.2149-282C>A Single submitter
- c.221+10C>G Single submitter congenital dyserythropoietic anemia type 2
- c.221+159G>A Single submitter
- c.221+174A>C Single submitter
- c.221+31A>T Single submitter congenital dyserythropoietic anemia type 2
- c.2214+108C>T Single submitter
- c.2214+10C>A Single submitter congenital dyserythropoietic anemia type 2
- c.2214+13_2214+14del Single submitter congenital dyserythropoietic anemia type 2
- c.2214+14del Single submitter congenital dyserythropoietic anemia type 2
- c.2214+15G>A Single submitter congenital dyserythropoietic anemia type 2
- c.2214+15G>T Single submitter congenital dyserythropoietic anemia type 2
- c.2215-15A>G Single submitter Cowden syndrome 7
- c.2215-18T>C Single submitter congenital dyserythropoietic anemia type 2
- c.2215-19C>T Single submitter congenital dyserythropoietic anemia type 2
- c.2215-9A>G Single submitter congenital dyserythropoietic anemia type 2
- c.222-15T>A Single submitter congenital dyserythropoietic anemia type 2
- c.222-17_222-15del Single submitter congenital dyserythropoietic anemia type 2
- c.222-19_222-17del Single submitter congenital dyserythropoietic anemia type 2
- c.222-20_222-16del Single submitter Cowden syndrome 7
- c.222-4A>G Single submitter congenital dyserythropoietic anemia type 2
- c.222-55_222-36del Single submitter
- c.222-57_222-55del Single submitter
- c.222-61A>G Single submitter
- c.279+13T>A Single submitter congenital dyserythropoietic anemia type 2
- c.279+17T>A Single submitter congenital dyserythropoietic anemia type 2
- c.280-10T>C Single submitter congenital dyserythropoietic anemia type 2
- c.280-11C>T Single submitter congenital dyserythropoietic anemia type 2
- c.280-12C>G Single submitter congenital dyserythropoietic anemia type 2
- c.280-12C>T Single submitter congenital dyserythropoietic anemia type 2
- c.280-13T>G Single submitter congenital dyserythropoietic anemia type 2
- c.280-20_280-14del Single submitter congenital dyserythropoietic anemia type 2
- c.280-8_280-6del Single submitter congenital dyserythropoietic anemia type 2
- c.366+11T>C Single submitter congenital dyserythropoietic anemia type 2
- c.366+15G>C Single submitter congenital dyserythropoietic anemia type 2
- c.366+17G>A Single submitter congenital dyserythropoietic anemia type 2
- c.366+18C>T Single submitter congenital dyserythropoietic anemia type 2
- c.367-8G>C Single submitter congenital dyserythropoietic anemia type 2
- c.603+16G>C Single submitter congenital dyserythropoietic anemia type 2
- c.604-10T>G Single submitter congenital dyserythropoietic anemia type 2
- c.604-19T>G Single submitter congenital dyserythropoietic anemia type 2
- c.604-4T>A Single submitter congenital dyserythropoietic anemia type 2
- c.689+8C>T Single submitter congenital dyserythropoietic anemia type 2
- c.690-17C>T Single submitter congenital dyserythropoietic anemia type 2
- c.690-4_690-3dup Single submitter congenital dyserythropoietic anemia type 2
- c.690-6T>C Single submitter Cowden syndrome 7
- c.690-7C>G Single submitter congenital dyserythropoietic anemia type 2
- c.834+14T>C Single submitter congenital dyserythropoietic anemia type 2
- c.834+16C>T Single submitter
- c.834+17C>G Single submitter congenital dyserythropoietic anemia type 2
- c.834+17C>T Single submitter congenital dyserythropoietic anemia type 2
- c.993+11T>C Single submitter congenital dyserythropoietic anemia type 2
- c.993+14G>A Single submitter congenital dyserythropoietic anemia type 2
- c.993+14G>T Single submitter Cowden syndrome 7
- c.993+15G>C Single submitter congenital dyserythropoietic anemia type 2
- c.993+8C>G Single submitter congenital dyserythropoietic anemia type 2
- c.993+8C>T Single submitter congenital dyserythropoietic anemia type 2
- c.994-10C>G Single submitter congenital dyserythropoietic anemia type 2
- c.994-10C>T Single submitter
- c.994-12C>T Single submitter congenital dyserythropoietic anemia type 2
- c.994-13C>G Single submitter congenital dyserythropoietic anemia type 2
- c.994-175G>A Single submitter
- c.994-189T>A Single submitter congenital dyserythropoietic anemia type 2
- c.994-189T>C Single submitter congenital dyserythropoietic anemia type 2
- c.994-19A>G Single submitter congenital dyserythropoietic anemia type 2
- c.994-20T>A Single submitter congenital dyserythropoietic anemia type 2
- c.994-5C>T Single submitter congenital dyserythropoietic anemia type 2
- c.-15+7G>C Single submitter
- c.*278T>C Single submitter congenital dyserythropoietic anemia type 2
- p.Ala108= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala146= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala2= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala273= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala31= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala351= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala39= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala502= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala523= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala524= Single submitter Cowden syndrome 7
- p.Ala667= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala717= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala735= Single submitter congenital dyserythropoietic anemia type 2
- p.Ala762= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg123= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg261= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg28= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg414= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg513= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg546= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg554= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg571= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg588= Single submitter congenital dyserythropoietic anemia type 2
- p.Arg606= Single submitter congenital dyserythropoietic anemia type 2
- p.Asn343= Single submitter congenital dyserythropoietic anemia type 2
- p.Asn397= Single submitter congenital dyserythropoietic anemia type 2
- p.Asn429= Single submitter Cowden syndrome 7
- p.Asn467= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp136= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp194= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp202= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp244= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp321= Single submitter Cowden syndrome 7
- p.Asp348= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp409= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp507= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp747= Single submitter congenital dyserythropoietic anemia type 2
- p.Cys61= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln106= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln356= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln447= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln475= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln493= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln521= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln55= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln551= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln557= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln622= Single submitter congenital dyserythropoietic anemia type 2
- p.Gln75= Single submitter congenital dyserythropoietic anemia type 2
- p.Glu118= Single submitter congenital dyserythropoietic anemia type 2
- p.Glu223= Single submitter congenital dyserythropoietic anemia type 2
- p.Glu248= Single submitter congenital dyserythropoietic anemia type 2
- p.Glu537= Single submitter congenital dyserythropoietic anemia type 2
- p.Glu601= Single submitter congenital dyserythropoietic anemia type 2
- p.Gly100= Single submitter congenital dyserythropoietic anemia type 2
- p.Gly293= Single submitter congenital dyserythropoietic anemia type 2
- p.Gly398= Single submitter congenital dyserythropoietic anemia type 2
- p.Gly444= Single submitter congenital dyserythropoietic anemia type 2
- p.Gly532= Single submitter Cowden syndrome 7
- p.Gly560= Single submitter congenital dyserythropoietic anemia type 2
- p.His236= Single submitter congenital dyserythropoietic anemia type 2
- p.His608= Single submitter congenital dyserythropoietic anemia type 2
- p.His685= Single submitter congenital dyserythropoietic anemia type 2
- p.Ile481= Single submitter congenital dyserythropoietic anemia type 2
- p.Ile644= Single submitter congenital dyserythropoietic anemia type 2
- p.Ile708Val Single submitter congenital dyserythropoietic anemia type 2
- p.Ile8= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu110= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu163= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu178= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu246= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu29= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu354= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu360= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu41= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu5= Single submitter Cowden syndrome 7
- p.Leu51= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu512= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu552= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu614= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu625= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu651= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu691= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu698= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu733= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu745= Single submitter congenital dyserythropoietic anemia type 2
- p.Leu82= Single submitter congenital dyserythropoietic anemia type 2
- p.Lys237= Single submitter congenital dyserythropoietic anemia type 2
- p.Lys320= Single submitter congenital dyserythropoietic anemia type 2
- p.Lys449= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro212= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro253= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro255= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro296= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro472= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro474= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro542= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro567= Single submitter Cowden syndrome 7
- p.Pro636= Single submitter
- p.Pro678= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro703= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro72= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro726= Single submitter congenital dyserythropoietic anemia type 2
- p.Pro743= Single submitter
- p.Ser26= Single submitter congenital dyserythropoietic anemia type 2
- p.Ser382Thr Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Ser573= Single submitter congenital dyserythropoietic anemia type 2
- p.Ser627= Single submitter congenital dyserythropoietic anemia type 2
- p.Ser722= Single submitter congenital dyserythropoietic anemia type 2
- p.Ser727= Single submitter congenital dyserythropoietic anemia type 2
- p.Ser750= Single submitter congenital dyserythropoietic anemia type 2
- p.Thr297= Single submitter congenital dyserythropoietic anemia type 2
- p.Thr3= Single submitter congenital dyserythropoietic anemia type 2
- p.Thr32= Single submitter congenital dyserythropoietic anemia type 2
- p.Thr340= Single submitter congenital dyserythropoietic anemia type 2
- p.Thr369= Single submitter congenital dyserythropoietic anemia type 2
Uncertain significance 200
- c.1233+4C>T Multiple submitters congenital dyserythropoietic anemia type 2
- c.1512-16A>G Multiple submitters congenital dyserythropoietic anemia type 2
- c.1666-3T>C Multiple submitters congenital dyserythropoietic anemia type 2
- c.221+3A>G Multiple submitters congenital dyserythropoietic anemia type 2
- c.222-78C>T Multiple submitters Cowden syndrome 7
- p.Ala2Thr Multiple submitters ⚠
- p.Ala329Pro Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Ala536Glu Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Ala68Thr Multiple submitters Cowden syndrome 7 ⚠
- p.Arg217Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg28Trp Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Arg401Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg495Cys Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Arg546Trp Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Arg611Trp Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Arg706His Multiple submitters ⚠
- p.Arg79Gln Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Asn597Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn709Ser Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Asn71His Multiple submitters SEC23B-related disorder ⚠
- p.Asn86Asp Multiple submitters ⚠
- p.Asp306Asn Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Asp454Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp676Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln447Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly205Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly267Val Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.His236Gln Multiple submitters Cowden syndrome 7 ⚠
- p.His608Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile101Val Multiple submitters congenital dyserythropoietic anemia type 2
- p.Ile130Thr Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Ile418Met Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Ile496Val Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Leu246del Multiple submitters
- p.Leu42His Multiple submitters Inborn genetic diseases ⚠
- p.Leu625Ile Multiple submitters ⚠
- p.Phe559Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro253Ser Multiple submitters congenital dyserythropoietic anemia type 2
- p.Pro703Leu Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Pro743Ser Multiple submitters Inborn genetic diseases
- p.Pro96Ala Multiple submitters Cowden syndrome 7 ⚠
- p.Ser715Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser765Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr297Ile Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Tyr372Cys Multiple submitters congenital dyserythropoietic anemia type 2 ⚠
- p.Val35Ile Multiple submitters ⚠
- c.1233+6G>A Single submitter congenital dyserythropoietic anemia type 2
- c.1512-16_1512-7del Single submitter congenital dyserythropoietic anemia type 2
- c.1512-3delinsTT Single submitter congenital dyserythropoietic anemia type 2
- c.1665+4A>G Single submitter congenital dyserythropoietic anemia type 2
- c.1743+3A>C Single submitter
- c.2214+72A>G Single submitter
- c.-14-1G>A Single submitter congenital dyserythropoietic anemia type 2
- c.-15+59G>A Single submitter
- c.-8T>C Single submitter congenital dyserythropoietic anemia type 2
- c.*178C>T Single submitter congenital dyserythropoietic anemia type 2
- c.*292T>G Single submitter congenital dyserythropoietic anemia type 2
- c.*308A>G Single submitter congenital dyserythropoietic anemia type 2
- c.*32T>G Single submitter congenital dyserythropoietic anemia type 2
- c.*448C>T Single submitter congenital dyserythropoietic anemia type 2
- c.*493A>G Single submitter congenital dyserythropoietic anemia type 2
- c.*494T>C Single submitter congenital dyserythropoietic anemia type 2
- c.*561A>C Single submitter congenital dyserythropoietic anemia type 2
- p.Ala146Thr Single submitter congenital dyserythropoietic anemia type 2
- p.Ala2Val Single submitter Cowden syndrome 7 ⚠
- p.Ala31Gly Single submitter Inborn genetic diseases ⚠
- p.Ala323Ser Single submitter Inborn genetic diseases ⚠
- p.Ala406Val Single submitter congenital dyserythropoietic anemia type 2
- p.Ala502Thr Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Ala536Val Single submitter ⚠
- p.Ala700Val Single submitter ⚠
- p.Ala717Ser Single submitter ⚠
- p.Ala84Val Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg14Gln Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg264Gln Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg28Gln Single submitter Inborn genetic diseases ⚠
- p.Arg313Leu Single submitter ⚠
- p.Arg414Pro Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg414Trp Single submitter ⚠
- p.Arg48Cys Single submitter ⚠
- p.Arg48His Single submitter Inborn genetic diseases
- p.Arg497Leu Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg503Gln Single submitter ⚠
- p.Arg513Trp Single submitter Inborn genetic diseases ⚠
- p.Arg546Leu Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg611Gln Single submitter ⚠
- p.Arg670His Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Arg79Gly Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Asn22Asp Single submitter ⚠
- p.Asn22Lys Single submitter ⚠
- p.Asn343Asp Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Asn367Asp Single submitter Inborn genetic diseases ⚠
- p.Asn467Asp Single submitter Inborn genetic diseases ⚠
- p.Asn467Ser Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Asn597Lys Single submitter ⚠
- p.Asp15His Single submitter ⚠
- p.Asp613Val Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Asp692Asn Single submitter ⚠
- p.Asp748= Single submitter congenital dyserythropoietic anemia type 2
- p.Asp748Asn Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Asp748His Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Cys352Arg Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Cys425Trp Single submitter ⚠
- p.Cys451Tyr Single submitter ⚠
- p.Cys66Tyr Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Gln113Pro Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Gln475Arg Single submitter Cowden syndrome 7
- p.Gln509Glu Single submitter ⚠
- p.Gln511Glu Single submitter Inborn genetic diseases ⚠
- p.Gln55Leu Single submitter Inborn genetic diseases ⚠
- p.Gln55Pro Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Gln593= Single submitter
- p.Gln728His Single submitter ⚠
- p.Glu118Gly Single submitter ⚠
- p.Glu12Val Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Glu30Ala Single submitter Inborn genetic diseases ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu319Lys Single submitter Cowden syndrome 7
- p.Glu415Asp Single submitter Inborn genetic diseases
- p.Glu415Gly Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Glu679Lys Single submitter Cowden syndrome 7 ⚠
- p.Gly267Asp Single submitter ⚠
- p.Gly285Arg Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Gly293Arg Single submitter ⚠
- p.Gly299Arg Single submitter Inborn genetic diseases ⚠
- p.Gly299Val Single submitter Inborn genetic diseases ⚠
- p.Gly301Asp Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Gly305Arg Single submitter Inborn genetic diseases ⚠
- p.Gly344Ser Single submitter Inborn genetic diseases ⚠
- p.Gly358Ala Single submitter Inborn genetic diseases ⚠
- p.Gly673Val Single submitter Inborn genetic diseases ⚠
- p.Gly737Glu Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.His332_Tyr333insTer Single submitter
- p.His469Gln Single submitter SEC23B-related disorder
- p.His608Tyr Single submitter Inborn genetic diseases ⚠
- p.His631Arg Single submitter ⚠
- p.Ile117Thr Single submitter ⚠
- p.Ile238Val Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Ile272Val Single submitter ⚠
- p.Ile422Phe Single submitter Inborn genetic diseases ⚠
- p.Ile515Thr Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Ile619Met Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Ile644Leu Single submitter Inborn genetic diseases ⚠
- p.Leu246Phe Single submitter ⚠
- p.Leu270Phe Single submitter Inborn genetic diseases ⚠
- p.Leu29Arg Single submitter Inborn genetic diseases ⚠
- p.Leu359Phe Single submitter ⚠
- p.Leu41Pro Single submitter ⚠
- p.Leu512Phe Single submitter Inborn genetic diseases ⚠
- p.Leu552Phe Single submitter SEC23B-related disorder ⚠
- p.Leu618Phe Single submitter ⚠
- p.Leu618Val Single submitter Inborn genetic diseases ⚠
- p.Leu691Pro Single submitter Inborn genetic diseases ⚠
- p.Leu698Gln Single submitter ⚠
- p.Leu70Phe Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Leu82Phe Single submitter Inborn genetic diseases ⚠
- p.Lys260Asn Single submitter Cowden syndrome 7 ⚠
- p.Lys411Arg Single submitter Inborn genetic diseases ⚠
- p.Lys417Asn Single submitter Inborn genetic diseases ⚠
- p.Lys671Glu Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Lys723Arg Single submitter Inborn genetic diseases ⚠
- p.Met1Val Single submitter
- p.Met289Leu Single submitter Inborn genetic diseases ⚠
- p.Met362Ile Single submitter ⚠
- p.Met755Val Single submitter Inborn genetic diseases ⚠
- p.Phe231Val Single submitter ⚠
- p.Phe400Val Single submitter ⚠
- p.Phe404Leu Single submitter Inborn genetic diseases ⚠
- p.Phe519Leu Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Phe534Leu Single submitter Cowden syndrome 7 ⚠
- p.Phe576Val Single submitter ⚠
- p.Phe683Leu Single submitter Inborn genetic diseases ⚠
- p.Pro107Thr Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Pro262Ser Single submitter ⚠
- p.Pro472Leu Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Pro474Arg Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Pro49Leu Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Pro599Leu Single submitter Inborn genetic diseases ⚠
- p.Pro634Leu Single submitter ⚠
- p.Ser102Tyr Single submitter ⚠
- p.Ser265Ala Single submitter Inborn genetic diseases ⚠
- p.Ser577Phe Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Ser62Asn Single submitter Inborn genetic diseases ⚠
- p.Ser641Asn Single submitter Inborn genetic diseases ⚠
- p.Thr292Ile Single submitter ⚠
- p.Thr32Ala Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Thr381Ile Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Thr412Asn Single submitter Inborn genetic diseases ⚠
- p.Thr456Ala Single submitter Cowden syndrome 7 ⚠
- p.Thr471Asn Single submitter Inborn genetic diseases ⚠
- p.Thr492Ile Single submitter Cowden syndrome 7 ⚠
- p.Thr654Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr333Cys Single submitter ⚠
- p.Tyr372Phe Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Tyr604His Single submitter ⚠
- p.Val17Ala Single submitter ⚠
- p.Val274Ile Single submitter congenital dyserythropoietic anemia type 2 ⚠
- p.Val410Leu Single submitter Inborn genetic diseases ⚠
- p.Val594Gly Single submitter Cowden syndrome 7 ⚠