EBF3 — 382 ClinVar variants
All ClinVar germline EBF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
56 Pathogenic · 8 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 7 Conflicting · 7 Benign · 5 Benign/Likely benign · 76 Likely benign · 172 Uncertain significance
Full EBF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- EBF3 p.Gly356Asp Conflicting Single submitter
-
EBF3 p.Pro317Leu
Conflicting
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Pro58Arg
Conflicting
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Val221Met
Conflicting
Single submitter
hypotonia, ataxia, and delayed development syndrome
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
EBF3 p.Arg470Ter
Conflicting
Single submitter
intellectual disability
-
EBF3 p.Gln479Ter
Conflicting
Single submitter
intellectual disability, X-linked 102
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EBF3 c.*9A>G
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EBF3 p.Asn100Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EBF3 p.Asn66Thr Uncertain significance Multiple submitters
-
EBF3 p.Asp125Asn
Uncertain significance
Multiple submitters
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Asp286Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EBF3 p.Gly291Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EBF3 p.His235Tyr
Uncertain significance
Multiple submitters
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Thr451Ala
Uncertain significance
Multiple submitters
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Ala454Gly
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Ala52Val Uncertain significance Single submitter
- EBF3 p.Ala562Thr Uncertain significance Single submitter
-
EBF3 p.Ala88Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Arg185Thr
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Arg245His Uncertain significance Single submitter
-
EBF3 p.Arg246His
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Arg28Pro Uncertain significance Single submitter
-
EBF3 p.Arg28Ser
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Arg318Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Arg373Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Arg51Trp Uncertain significance Single submitter
-
EBF3 p.Asn101Asp
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Asn204Asp Uncertain significance Single submitter
-
EBF3 p.Asn204Lys
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Asn204Ser
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Asn428Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Asp385His
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Cys194Arg Uncertain significance Single submitter
-
EBF3 p.Cys198Phe
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Gln124Lys
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Gln212Leu Uncertain significance Single submitter
- EBF3 p.Gln293Leu Uncertain significance Single submitter
- EBF3 p.Gln361Pro Uncertain significance Single submitter
- EBF3 p.Gln457Arg Uncertain significance Single submitter
- EBF3 p.Glu304Lys Uncertain significance Single submitter
- EBF3 p.Glu83Asp Uncertain significance Single submitter
- EBF3 p.Gly107Val Uncertain significance Single submitter
-
EBF3 p.Gly21Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Gly278Val
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Gly338Val Uncertain significance Single submitter
-
EBF3 p.Gly436Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.His235Arg Uncertain significance Single submitter
- EBF3 p.His309Tyr Uncertain significance Single submitter
-
EBF3 p.His319Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.His367Arg Uncertain significance Single submitter
-
EBF3 p.His431Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.His53Pro Uncertain significance Single submitter
- EBF3 p.Leu154Pro Uncertain significance Single submitter
- EBF3 p.Leu155Pro Uncertain significance Single submitter
- EBF3 p.Leu328Phe Uncertain significance Single submitter
- EBF3 p.Leu425Pro Uncertain significance Single submitter
-
EBF3 p.Leu625=
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Leu74His Uncertain significance Single submitter
- EBF3 p.Lys189Gln Uncertain significance Single submitter
- EBF3 p.Lys200Gln Uncertain significance Single submitter
- EBF3 p.Lys200Glu Uncertain significance Single submitter
-
EBF3 p.Lys376Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Lys64Gln
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Met160Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Met208Ile Uncertain significance Single submitter
- EBF3 p.Met208Lys Uncertain significance Single submitter
-
EBF3 p.Met31Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Met498Thr Uncertain significance Single submitter
- EBF3 p.Phe211Leu Uncertain significance Single submitter
-
EBF3 p.Pro180His
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Pro180Ser Uncertain significance Single submitter
-
EBF3 p.Pro316Leu
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Pro321Ser Uncertain significance Single submitter
- EBF3 p.Pro368Ala Uncertain significance Single submitter
- EBF3 p.Pro371Ser Uncertain significance Single submitter
- EBF3 p.Pro565Ser Uncertain significance Single submitter
-
EBF3 p.Pro59Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Pro99Leu Uncertain significance Single submitter
-
EBF3 p.Ser216Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Ser461Gly Uncertain significance Single submitter
- EBF3 p.Ser476Asn Uncertain significance Single submitter
-
EBF3 p.Ser579Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Thr218Ala
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Thr218Ile Uncertain significance Single submitter
- EBF3 p.Thr262Ser Uncertain significance Single submitter
- EBF3 p.Thr464Ile Uncertain significance Single submitter
-
EBF3 p.Thr488Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Tyr391His
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Val120Ile Uncertain significance Single submitter
- EBF3 p.Val153Met Uncertain significance Single submitter
-
EBF3 p.Val215Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Val323Leu
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Val37Leu Uncertain significance Single submitter
- EBF3 p.Val503Gly Uncertain significance Single submitter
- EBF3 p.Val71Leu Uncertain significance Single submitter
-
EBF3 p.Val82Met
Uncertain significance
Single submitter
EBF3-related disorder
- EBF3 p.Val90Leu Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
-
EBF3 p.Arg63Trp
Pathogenic/Likely pathogenic
Multiple submitters
hypotonia, ataxia, and delayed development syndrome
- EBF3 c.*10T>C Uncertain significance Single submitter
-
EBF3 c.*4C>T
Likely benign
Single submitter
Inborn genetic diseases
- EBF3 p.Ala244Thr Uncertain significance Single submitter
- EBF3 p.Ala347Thr Conflicting Single submitter
- EBF3 p.Ala34Glu Uncertain significance Single submitter
- EBF3 p.Ala389Thr Uncertain significance Single submitter
- EBF3 p.Ala564Val Likely benign Single submitter
-
EBF3 p.Ala88Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Ala88Val Uncertain significance Single submitter
-
EBF3 p.Arg10His
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Arg185Lys
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Arg462Cys Uncertain significance Single submitter
-
EBF3 p.Arg568Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Asn195Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Asn237Ser Uncertain significance Single submitter
- EBF3 p.Asn463Asp Uncertain significance Single submitter
- EBF3 p.Asn463Lys Uncertain significance Single submitter
-
EBF3 p.Asn583Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Asp145Asn Uncertain significance Single submitter
-
EBF3 p.Asp385Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Asp407Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Gln479Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Gly11Glu Uncertain significance Single submitter
-
EBF3 p.Gly12Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EBF3 p.Gly582Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.His319Asn Uncertain significance Single submitter
- EBF3 p.Ile183Val Uncertain significance Single submitter
- EBF3 p.Ile283Leu Likely benign Single submitter
- EBF3 p.Ile401Phe Uncertain significance Single submitter
-
EBF3 p.Leu74Phe
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Lys146Arg Uncertain significance Single submitter
- EBF3 p.Lys239Arg Likely pathogenic Single submitter
- EBF3 p.Met134Ile Uncertain significance Single submitter
-
EBF3 p.Phe2Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EBF3 p.Pro469Gln Uncertain significance Single submitter
-
EBF3 p.Ser162Asn
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Ser22Arg
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Ter630Gln Uncertain significance Single submitter
-
EBF3 p.Tyr472His
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
- EBF3 p.Val225Met Uncertain significance Single submitter
-
EBF3 p.Val323Ile
Uncertain significance
Single submitter
hypotonia, ataxia, and delayed development syndrome
-
EBF3 p.Val446Ile
Likely benign
Single submitter
Inborn genetic diseases
-
EBF3 p.Val467Met
Likely benign
Single submitter
Inborn genetic diseases
- EBF3 p.Val557Ala Uncertain significance Single submitter
- EBF3 p.Val90Met Uncertain significance Single submitter
All EBF3 variants
Pathogenic 56
- c.486-1G>A Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Ala279fs Multiple submitters Paediatric disorders
- p.Arg152Gly Multiple submitters Inborn genetic diseases
- p.Arg163Gln Multiple submitters Inborn genetic diseases
- p.Arg163Leu Multiple submitters Hypotonia
- p.Arg206Ter Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Arg312Ter Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.His157Tyr Multiple submitters
- p.Pro177Leu Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Thr477fs Multiple submitters Inborn genetic diseases
- p.Tyr116Ter Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Tyr391Ter Multiple submitters hypotonia, ataxia, and delayed development syndrome
- c.1128+1G>C Single submitter hypotonia, ataxia, and delayed development syndrome
- c.1128+1G>T Single submitter hypotonia, ataxia, and delayed development syndrome
- c.1372+1G>A Single submitter
- c.289_291+1del Single submitter Inborn genetic diseases
- c.291+1G>A Single submitter
- c.291+2del Single submitter hypotonia, ataxia, and delayed development syndrome
- c.292-2A>G Single submitter
- c.554+4A>C Single submitter
- c.636+1G>A Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Arg152Leu Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Arg51Ter Single submitter
- p.Asn237del Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Cys198Tyr Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Gln113fs Single submitter Inborn genetic diseases
- p.Gln124Ter Single submitter
- p.Gln196Arg Single submitter
- p.Gln212Ter Single submitter Inborn genetic diseases
- p.Gln361Ter Single submitter Inborn genetic diseases
- p.Gln421fs Single submitter
- p.Gln57fs Single submitter
- p.Gln78Ter Single submitter autism spectrum disorder
- p.Gln80fs Single submitter
- p.Glu175fs Single submitter
- p.Glu55Ter Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Gly171Asp Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Leu114Ter Single submitter
- p.Leu154Gln Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Lys146Glu Single submitter
- p.Lys193Asn Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Lys97fs Single submitter
- p.Met134fs Single submitter Inborn genetic diseases
- p.Phe186_Phe187insTer Single submitter
- p.Pro180fs Single submitter Inborn genetic diseases
- p.Pro81fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Ser29Ter Single submitter
- p.Ser449Ter Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Trp30Ter Single submitter
- p.Tyr141fs Single submitter
- p.Val566fs Single submitter
- p.Val82fs Single submitter
- p.Cys161Ser No assertion criteria hypotonia, ataxia, and delayed development syndrome
- p.Glu94fs No assertion criteria vesicoureteral reflux
- p.His157_Ile159dup No assertion criteria
- p.Met208fs No assertion criteria hypotonia, ataxia, and delayed development syndrome
Pathogenic/Likely pathogenic 8
- c.485+2_485+8del Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Arg163Trp Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Arg209Gln Multiple submitters Inborn genetic diseases
- p.Arg209Trp Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Arg404Ter Multiple submitters EBF3-related disorder
- p.Arg63Gln Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Arg63Trp Multiple submitters hypotonia, ataxia, and delayed development syndrome ⚠
- p.Tyr141Cys Multiple submitters hypotonia, ataxia, and delayed development syndrome
Likely pathogenic 51
- c.555-2A>G Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Asn197Asp Multiple submitters hypotonia, ataxia, and delayed development syndrome
- p.Gly143Asp Multiple submitters hypotonia, ataxia, and delayed development syndrome
- c.1194+1G>C Single submitter EBF3-related disorder
- c.1373-2A>C Single submitter hypotonia, ataxia, and delayed development syndrome
- c.1561+3_1561+6del Single submitter
- c.356-2A>G Single submitter Inborn genetic diseases
- c.486-12A>G Single submitter hypotonia, ataxia, and delayed development syndrome
- c.554+1del Single submitter
- p.Ala384Val Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Arg129Pro Single submitter Inborn genetic diseases
- p.Arg152Cys Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Arg152Pro Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Arg163Pro Single submitter EBF3-related disorder
- p.Arg185Ser Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Arg312Gln Single submitter
- p.Asn287fs Single submitter
- p.Asn40fs Single submitter EBF3-related disorder
- p.Asn66Asp Single submitter Inborn genetic diseases
- p.Asp222fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Cys161Arg Single submitter EBF3-related disorder
- p.Cys164Gly Single submitter Inborn genetic diseases
- p.Cys164Ser Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Cys170Tyr Single submitter
- p.Gln453Ter Single submitter
- p.Glu175Ter Single submitter hypotonia, ataxia, and delayed development syndrome
- p.His109Pro Single submitter hypotonia, ataxia, and delayed development syndrome
- p.His157Gln Single submitter
- p.His395fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Ile183fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Leu154fs Single submitter Hhypotonia, ataxia, and delayed development syndrome
- p.Leu192del Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Leu328His Single submitter Inborn genetic diseases
- p.Leu62Phe Single submitter
- p.Lys193Glu Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Lys239Arg Single submitter ⚠
- p.Lys64Thr Single submitter
- p.Met208Leu Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Met232fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Met232Lys Single submitter EBF3-related disorder
- p.Pro317fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Ser169Gly Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Ser229Leu Single submitter Inborn genetic diseases
- p.Thr122fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Thr327delinsSerLysTer Single submitter
- p.Thr485fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Val219Ala Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Val234Ala Single submitter hypotonia, ataxia, and delayed development syndrome
- c.412-2A>T No assertion criteria hypotonia, ataxia, and delayed development syndrome
- p.Arg163Gly No assertion criteria hypotonia, ataxia, and delayed development syndrome
- p.Asn105fs No assertion criteria hypotonia, ataxia, and delayed development syndrome
Conflicting classifications of pathogenicity 7
- p.Ala347Thr Single submitter ⚠
- p.Arg470Ter Single submitter intellectual disability ⚠
- p.Gln479Ter Single submitter intellectual disability, X-linked 102 ⚠
- p.Gly356Asp Single submitter ⚠
- p.Pro317Leu Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Pro58Arg Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Val221Met Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
Benign 7
- p.Arg77= Multiple submitters
- c.1373-11del Single submitter
- c.1373-11dup Single submitter
- c.1373-12_1373-11dup Single submitter
- c.1373-13_1373-11dup Single submitter
- c.1373-14_1373-11dup Single submitter
- p.Thr14= Single submitter
Benign/Likely benign 5
- p.Gln144= Multiple submitters
- p.Pro565= Multiple submitters
- p.Ser579= Multiple submitters
- p.Thr33Ala Multiple submitters Inborn genetic diseases
- p.Thr346= Multiple submitters
Likely benign 76
- p.Asn581= Multiple submitters
- p.Gly21Ser Multiple submitters intellectual disability
- p.Thr280= Multiple submitters
- p.Val213= Multiple submitters
- c.1129-7C>G Single submitter
- c.134+15_134+35del Single submitter
- c.1373-10dup Single submitter
- c.1373-11_1373-10insGGGC Single submitter
- c.1373-11_1373-10insGGT Single submitter
- c.1373-17_1373-16insGGGT Single submitter
- c.1373-18_1373-17insGGTG Single submitter
- c.1373-20_1373-19insCGGG Single submitter
- c.292-11G>A Single submitter
- c.411+14T>C Single submitter
- c.412-11C>A Single submitter
- c.486-5C>T Single submitter
- c.637-16C>T Single submitter
- c.912+14C>G Single submitter
- c.912+17G>A Single submitter
- c.912+8C>T Single submitter
- c.-206G>A Single submitter
- c.*28A>G Single submitter
- c.*34C>T Single submitter
- c.*4C>T Single submitter Inborn genetic diseases ⚠
- c.*8A>T Single submitter
- p.Ala227= Single submitter
- p.Ala39= Single submitter
- p.Ala406= Single submitter
- p.Ala411= Single submitter Inborn genetic diseases
- p.Ala445= Single submitter
- p.Ala515= Single submitter
- p.Ala564= Single submitter
- p.Ala564Val Single submitter ⚠
- p.Arg51= Single submitter
- p.Asn106= Single submitter
- p.Asn397Ser Single submitter
- p.Asn455= Single submitter
- p.Asn484Ser Single submitter
- p.Asn61= Single submitter
- p.Cys539Tyr Single submitter
- p.Gly223Ser Single submitter Inborn genetic diseases
- p.Gly322= Single submitter
- p.Gly392= Single submitter
- p.His543= Single submitter
- p.Ile283Leu Single submitter ⚠
- p.Ile408= Single submitter
- p.Leu49Pro Single submitter autism spectrum disorder
- p.Pro316= Single submitter
- p.Ser439= Single submitter
- p.Ser441Thr Single submitter Inborn genetic diseases
- p.Ser466= Single submitter
- p.Ser506= Single submitter
- p.Thr104= Single submitter
- p.Thr33= Single submitter
- p.Thr424= Single submitter
- p.Thr432Met Single submitter Inborn genetic diseases
- p.Thr451= Single submitter
- p.Val27Met Single submitter Inborn genetic diseases
- p.Val323= Single submitter
- p.Val437Ile Single submitter
- p.Val446Ile Single submitter Inborn genetic diseases ⚠
- p.Val467Met Single submitter Inborn genetic diseases ⚠
- p.Thr346= No assertion criteria intellectual disability
- c.1040-7del No assertion criteria EBF3-related disorder
- c.135-7C>T No assertion criteria intellectual disability
- c.1373-10A>G No assertion criteria EBF3-related disorder
- c.1759+8T>G No assertion criteria intellectual disability
- c.412-7C>T No assertion criteria EBF3-related disorder
- c.-10A>G No assertion criteria EBF3-related disorder
- p.Arg163= No assertion criteria EBF3-related disorder
- p.Asp184= No assertion criteria EBF3-related disorder
- p.Ile400= No assertion criteria EBF3-related disorder
- p.Pro249= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Pro263= No assertion criteria EBF3-related disorder
- p.Ser229= No assertion criteria EBF3-related disorder
- p.Ser555= No assertion criteria EBF3-related disorder
Uncertain significance 172
- c.*9A>G Multiple submitters Inborn genetic diseases ⚠
- p.Asn100Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn66Thr Multiple submitters ⚠
- p.Asp125Asn Multiple submitters hypotonia, ataxia, and delayed development syndrome ⚠
- p.Asp286Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gly291Arg Multiple submitters Inborn genetic diseases ⚠
- p.His235Tyr Multiple submitters hypotonia, ataxia, and delayed development syndrome ⚠
- p.Thr451Ala Multiple submitters hypotonia, ataxia, and delayed development syndrome ⚠
- c.1128+6T>C Single submitter hypotonia, ataxia, and delayed development syndrome
- c.1129-100G>A Single submitter hypotonia, ataxia, and delayed development syndrome
- c.1194+12G>T Single submitter
- c.1194+5G>A Single submitter
- c.134+4C>T Single submitter Inborn genetic diseases
- c.135-2A>G Single submitter neurodevelopmental disorder
- c.1372+2dup Single submitter hypotonia, ataxia, and delayed development syndrome
- c.1372+3A>G Single submitter hypotonia, ataxia, and delayed development syndrome
- c.1373-14_1373-13insGGGT Single submitter hypotonia, ataxia, and delayed development syndrome
- c.1373-17_1373-16insGGA Single submitter Inborn genetic diseases
- c.1373-2del Single submitter Inborn genetic diseases
- c.1561+1G>C Single submitter hypotonia, ataxia, and delayed development syndrome
- c.292-6T>G Single submitter
- c.356-4G>C Single submitter hypotonia, ataxia, and delayed development syndrome
- c.486-10T>G Single submitter hypotonia, ataxia, and delayed development syndrome
- c.486-5del Single submitter
- c.486-7T>G Single submitter
- c.554+5G>A Single submitter hypotonia, ataxia, and delayed development syndrome
- c.636+19del Single submitter hypotonia, ataxia, and delayed development syndrome
- c.782-4_782-3delinsAG Single submitter
- c.912+6C>T Single submitter
- c.*10T>C Single submitter ⚠
- p.Ala244Thr Single submitter ⚠
- p.Ala34Glu Single submitter ⚠
- p.Ala389Thr Single submitter ⚠
- p.Ala445_Val446insAla Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Ala454Gly Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Ala52Val Single submitter ⚠
- p.Ala562Thr Single submitter ⚠
- p.Ala88Gly Single submitter Inborn genetic diseases ⚠
- p.Ala88Thr Single submitter Inborn genetic diseases ⚠
- p.Ala88Val Single submitter ⚠
- p.Arg10His Single submitter Inborn genetic diseases ⚠
- p.Arg185Lys Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Arg185Thr Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Arg245His Single submitter ⚠
- p.Arg246His Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Arg28Pro Single submitter ⚠
- p.Arg28Ser Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Arg318Gly Single submitter Inborn genetic diseases ⚠
- p.Arg373Lys Single submitter Inborn genetic diseases ⚠
- p.Arg462Cys Single submitter ⚠
- p.Arg51Trp Single submitter ⚠
- p.Arg568Gly Single submitter Inborn genetic diseases ⚠
- p.Asn101Asp Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Asn195Ser Single submitter Inborn genetic diseases ⚠
- p.Asn204Asp Single submitter ⚠
- p.Asn204Lys Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Asn204Ser Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Asn237Ser Single submitter ⚠
- p.Asn428Asp Single submitter Inborn genetic diseases ⚠
- p.Asn463Asp Single submitter ⚠
- p.Asn463Lys Single submitter ⚠
- p.Asn581fs Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Asn583Lys Single submitter Inborn genetic diseases ⚠
- p.Asn601His Single submitter
- p.Asp145Asn Single submitter ⚠
- p.Asp385Glu Single submitter Inborn genetic diseases ⚠
- p.Asp385His Single submitter Inborn genetic diseases ⚠
- p.Asp407Glu Single submitter Inborn genetic diseases ⚠
- p.Cys194Arg Single submitter ⚠
- p.Cys198Phe Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Gln124Lys Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Gln212Leu Single submitter ⚠
- p.Gln293Leu Single submitter ⚠
- p.Gln361Pro Single submitter ⚠
- p.Gln457Arg Single submitter ⚠
- p.Gln479Arg Single submitter Inborn genetic diseases ⚠
- p.Gln570fs Single submitter
- p.Glu304Lys Single submitter ⚠
- p.Glu83_Glu85del Single submitter
- p.Glu83Asp Single submitter ⚠
- p.Gly107Val Single submitter ⚠
- p.Gly11Glu Single submitter ⚠
- p.Gly12Glu Single submitter Inborn genetic diseases ⚠
- p.Gly21Ala Single submitter Inborn genetic diseases ⚠
- p.Gly278Val Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Gly338Val Single submitter ⚠
- p.Gly436Ser Single submitter Inborn genetic diseases ⚠
- p.Gly582Arg Single submitter Inborn genetic diseases ⚠
- p.His235Arg Single submitter ⚠
- p.His309Tyr Single submitter ⚠
- p.His319Asn Single submitter ⚠
- p.His319Tyr Single submitter Inborn genetic diseases ⚠
- p.His367Arg Single submitter ⚠
- p.His431Tyr Single submitter Inborn genetic diseases ⚠
- p.His53Pro Single submitter ⚠
- p.His612_Phe613insTer Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Ile183Val Single submitter ⚠
- p.Ile401Phe Single submitter ⚠
- p.Leu154Pro Single submitter ⚠
- p.Leu155Pro Single submitter ⚠
- p.Leu328Phe Single submitter ⚠
- p.Leu425Pro Single submitter ⚠
- p.Leu625= Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Leu74His Single submitter ⚠
- p.Leu74Phe Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Lys146Arg Single submitter ⚠
- p.Lys168del Single submitter Inborn genetic diseases
- p.Lys16del Single submitter
- p.Lys189Gln Single submitter ⚠
- p.Lys200Gln Single submitter ⚠
- p.Lys200Glu Single submitter ⚠
- p.Lys376Glu Single submitter Inborn genetic diseases ⚠
- p.Lys558fs Single submitter
- p.Lys64Gln Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Met134Ile Single submitter ⚠
- p.Met160Thr Single submitter Inborn genetic diseases ⚠
- p.Met208_Phe211delinsIle Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Met208Ile Single submitter ⚠
- p.Met208Lys Single submitter ⚠
- p.Met31Val Single submitter Inborn genetic diseases ⚠
- p.Met490Ile Single submitter Inborn genetic diseases
- p.Met498Thr Single submitter ⚠
- p.Phe211Leu Single submitter ⚠
- p.Phe2Leu Single submitter Inborn genetic diseases ⚠
- p.Pro180His Single submitter Inborn genetic diseases ⚠
- p.Pro180Ser Single submitter ⚠
- p.Pro249Leu Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Pro316Leu Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Pro321Ser Single submitter ⚠
- p.Pro368Ala Single submitter ⚠
- p.Pro371Ser Single submitter ⚠
- p.Pro469Gln Single submitter ⚠
- p.Pro565Ser Single submitter ⚠
- p.Pro59Leu Single submitter Inborn genetic diseases ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser162Asn Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Ser216Leu Single submitter Inborn genetic diseases ⚠
- p.Ser22Arg Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Ser442del Single submitter
- p.Ser461Gly Single submitter ⚠
- p.Ser476Asn Single submitter ⚠
- p.Ser532fs Single submitter autism spectrum disorder
- p.Ser579Asn Single submitter Inborn genetic diseases ⚠
- p.Ter630Gln Single submitter ⚠
- p.Thr218Ala Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Thr218Ile Single submitter ⚠
- p.Thr262Ser Single submitter ⚠
- p.Thr276= Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Thr276Met Single submitter
- p.Thr464Ile Single submitter ⚠
- p.Thr488Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr391_Met393delinsLeu Single submitter Inborn genetic diseases
- p.Tyr391His Single submitter Inborn genetic diseases ⚠
- p.Tyr472His Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Val120Ile Single submitter ⚠
- p.Val153Met Single submitter ⚠
- p.Val181Ile Single submitter
- p.Val215Ile Single submitter Inborn genetic diseases ⚠
- p.Val225Met Single submitter ⚠
- p.Val323Ile Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Val323Leu Single submitter hypotonia, ataxia, and delayed development syndrome ⚠
- p.Val344= Single submitter
- p.Val37Leu Single submitter ⚠
- p.Val448Met Single submitter hypotonia, ataxia, and delayed development syndrome
- p.Val486fs Single submitter EBF3-related disorder
- p.Val503Gly Single submitter ⚠
- p.Val557Ala Single submitter ⚠
- p.Val71Leu Single submitter ⚠
- p.Val82Met Single submitter EBF3-related disorder ⚠
- p.Val90Leu Single submitter ⚠
- p.Val90Met Single submitter ⚠
- p.Ser178= No assertion criteria