GATAD2B — 643 ClinVar variants
All ClinVar germline GATAD2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 269 flagged for review →
77 Pathogenic · 6 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 20 Conflicting · 31 Benign · 9 Benign/Likely benign · 192 Likely benign · 278 Uncertain significance
Full GATAD2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 269
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GATAD2B p.Arg414Gln
Pathogenic/Likely pathogenic
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Gly406Arg Pathogenic Single submitter
- GATAD2B p.Ile316Met Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GATAD2B p.Ala554Gly
Conflicting
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Arg414Trp Conflicting Single submitter
-
GATAD2B p.Glu23Lys
Conflicting
Single submitter
Inborn genetic diseases
-
GATAD2B p.Gly393Ser
Conflicting
Single submitter
GATAD2B-related disorder
-
GATAD2B p.Ile585Val
Conflicting
Single submitter
Inborn genetic diseases
- GATAD2B p.Met292Val Conflicting Single submitter
-
GATAD2B p.Pro226Ser
Conflicting
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Pro279Leu
Conflicting
Single submitter
Inborn genetic diseases
- GATAD2B p.Pro300Leu Conflicting Single submitter
- GATAD2B p.Ser303Asn Conflicting Single submitter
-
GATAD2B p.Thr288Ala
Conflicting
Single submitter
Inborn genetic diseases
- GATAD2B p.Thr328Met Conflicting Single submitter
-
GATAD2B p.Val285Ala
Conflicting
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Predicted LoF vs a conflicting call 1
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.
Predictors lean, ClinVar uncertain 190
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 190
-
GATAD2B p.Ala148Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Ala251Thr
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Ala295Thr Uncertain significance Multiple submitters
-
GATAD2B p.Ala55Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Ala55Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GATAD2B p.Arg137Cys Uncertain significance Multiple submitters
-
GATAD2B p.Arg162Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Arg24Gln
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Arg357Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Arg460Gln
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Arg460Trp Uncertain significance Multiple submitters
- GATAD2B p.Arg520His Uncertain significance Multiple submitters
- GATAD2B p.Asn297Ser Uncertain significance Multiple submitters
-
GATAD2B p.Asn347Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Glu115Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GATAD2B p.Glu23Ala Uncertain significance Multiple submitters
-
GATAD2B p.Glu76Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Gly117Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Ile100Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Ile126Thr
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Ile159Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Ile209Phe
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Leu9Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Phe418Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Pro236Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Pro300Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Pro487Ser
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Ser17Thr
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Ser303Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GATAD2B p.Ser494Pro Uncertain significance Multiple submitters
-
GATAD2B p.Thr241Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Thr65Ala
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Val210Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Val541Leu
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Val59Leu Uncertain significance Multiple submitters
- GATAD2B p.Ala109Val Uncertain significance Single submitter
- GATAD2B p.Ala133Thr Uncertain significance Single submitter
- GATAD2B p.Ala178Pro Uncertain significance Single submitter
- GATAD2B p.Ala271Ser Uncertain significance Single submitter
- GATAD2B p.Ala295Val Uncertain significance Single submitter
- GATAD2B p.Ala315Gly Uncertain significance Single submitter
- GATAD2B p.Ala341Thr Uncertain significance Single submitter
- GATAD2B p.Ala464Glu Uncertain significance Single submitter
- GATAD2B p.Ala464Val Uncertain significance Single submitter
- GATAD2B p.Ala468Thr Uncertain significance Single submitter
- GATAD2B p.Ala483Thr Uncertain significance Single submitter
- GATAD2B p.Ala492Val Uncertain significance Single submitter
- GATAD2B p.Ala536Pro Uncertain significance Single submitter
- GATAD2B p.Ala536Thr Uncertain significance Single submitter
- GATAD2B p.Ala536Val Uncertain significance Single submitter
- GATAD2B p.Ala55Val Uncertain significance Single submitter
- GATAD2B p.Arg116Leu Uncertain significance Single submitter
- GATAD2B p.Arg137His Uncertain significance Single submitter
- GATAD2B p.Arg137Leu Uncertain significance Single submitter
- GATAD2B p.Arg145Ile Uncertain significance Single submitter
- GATAD2B p.Arg162Pro Uncertain significance Single submitter
- GATAD2B p.Arg228Gln Uncertain significance Single submitter
- GATAD2B p.Arg228Trp Uncertain significance Single submitter
- GATAD2B p.Arg277Gln Uncertain significance Single submitter
- GATAD2B p.Arg286His Uncertain significance Single submitter
- GATAD2B p.Arg460Leu Uncertain significance Single submitter
- GATAD2B p.Arg509Gln Uncertain significance Single submitter
- GATAD2B p.Asn101Asp Uncertain significance Single submitter
- GATAD2B p.Asn131Ser Uncertain significance Single submitter
- GATAD2B p.Asn238His Uncertain significance Single submitter
- GATAD2B p.Asn253Ser Uncertain significance Single submitter
- GATAD2B p.Asn291Ser Uncertain significance Single submitter
- GATAD2B p.Asn532His Uncertain significance Single submitter
- GATAD2B p.Asn557His Uncertain significance Single submitter
- GATAD2B p.Asn89Ser Uncertain significance Single submitter
- GATAD2B p.Asp19Glu Uncertain significance Single submitter
- GATAD2B p.Asp403Glu Uncertain significance Single submitter
- GATAD2B p.Asp68Gly Uncertain significance Single submitter
-
GATAD2B p.Cys409Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.Cys441Ser Uncertain significance Single submitter
-
GATAD2B p.Gln168His
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.Gln211His Uncertain significance Single submitter
- GATAD2B p.Gln211Pro Uncertain significance Single submitter
- GATAD2B p.Gln274Arg Uncertain significance Single submitter
-
GATAD2B p.Gln301Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.Gln309His Uncertain significance Single submitter
- GATAD2B p.Gln359His Uncertain significance Single submitter
- GATAD2B p.Gln399Glu Uncertain significance Single submitter
- GATAD2B p.Gln405Lys Uncertain significance Single submitter
- GATAD2B p.Gln535Arg Uncertain significance Single submitter
- GATAD2B p.Gln538Arg Uncertain significance Single submitter
- GATAD2B p.Gln538Pro Uncertain significance Single submitter
- GATAD2B p.Gln592His Uncertain significance Single submitter
- GATAD2B p.Gln67Arg Uncertain significance Single submitter
- GATAD2B p.Gln67Leu Uncertain significance Single submitter
- GATAD2B p.Glu152Gln Uncertain significance Single submitter
- GATAD2B p.Glu160Gly Uncertain significance Single submitter
- GATAD2B p.Glu177Lys Uncertain significance Single submitter
- GATAD2B p.Glu35Asp Uncertain significance Single submitter
-
GATAD2B p.Glu77Gly
Uncertain significance
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Gly244Ser Uncertain significance Single submitter
-
GATAD2B p.Gly547Ala
Uncertain significance
Single submitter
GATAD2B-related intellectual disability syndrome
- GATAD2B p.Gly71Asp Uncertain significance Single submitter
- GATAD2B p.Gly87Arg Uncertain significance Single submitter
-
GATAD2B p.His245Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.His258Arg Uncertain significance Single submitter
- GATAD2B p.His323Arg Uncertain significance Single submitter
- GATAD2B p.His505Arg Uncertain significance Single submitter
- GATAD2B p.His506Gln Uncertain significance Single submitter
- GATAD2B p.His61Arg Uncertain significance Single submitter
- GATAD2B p.His86Tyr Uncertain significance Single submitter
- GATAD2B p.Ile125Val Uncertain significance Single submitter
- GATAD2B p.Ile159Thr Uncertain significance Single submitter
- GATAD2B p.Ile209Val Uncertain significance Single submitter
- GATAD2B p.Ile248Met Uncertain significance Single submitter
- GATAD2B p.Ile324Thr Uncertain significance Single submitter
- GATAD2B p.Ile439Ser Uncertain significance Single submitter
- GATAD2B p.Ile502Val Uncertain significance Single submitter
- GATAD2B p.Ile522Val Uncertain significance Single submitter
- GATAD2B p.Ile589Leu Uncertain significance Single submitter
- GATAD2B p.Ile589Val Uncertain significance Single submitter
- GATAD2B p.Leu11Phe Uncertain significance Single submitter
- GATAD2B p.Leu165Phe Uncertain significance Single submitter
- GATAD2B p.Leu175Ser Uncertain significance Single submitter
- GATAD2B p.Leu225His Uncertain significance Single submitter
- GATAD2B p.Leu225Phe Uncertain significance Single submitter
- GATAD2B p.Leu256Ile Uncertain significance Single submitter
-
GATAD2B p.Leu256Phe
Uncertain significance
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Leu440Pro Uncertain significance Single submitter
- GATAD2B p.Leu508Val Uncertain significance Single submitter
- GATAD2B p.Leu568Val Uncertain significance Single submitter
- GATAD2B p.Lys33Arg Uncertain significance Single submitter
- GATAD2B p.Met142Arg Uncertain significance Single submitter
- GATAD2B p.Met142Ile Uncertain significance Single submitter
- GATAD2B p.Met259Val Uncertain significance Single submitter
- GATAD2B p.Met292Ile Uncertain significance Single submitter
- GATAD2B p.Met318Val Uncertain significance Single submitter
- GATAD2B p.Met342Leu Uncertain significance Single submitter
- GATAD2B p.Met342Val Uncertain significance Single submitter
- GATAD2B p.Met34Val Uncertain significance Single submitter
- GATAD2B p.Met445Lys Uncertain significance Single submitter
- GATAD2B p.Met4Ile Uncertain significance Single submitter
- GATAD2B p.Phe379Leu Uncertain significance Single submitter
-
GATAD2B p.Phe427Cys
Uncertain significance
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Pro104Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.Pro20Leu Uncertain significance Single submitter
- GATAD2B p.Pro214Ser Uncertain significance Single submitter
- GATAD2B p.Pro236Leu Uncertain significance Single submitter
- GATAD2B p.Pro290Ala Uncertain significance Single submitter
- GATAD2B p.Pro300Ala Uncertain significance Single submitter
- GATAD2B p.Pro307Ala Uncertain significance Single submitter
- GATAD2B p.Pro337Leu Uncertain significance Single submitter
-
GATAD2B p.Pro369Leu
Uncertain significance
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Pro370Thr Uncertain significance Single submitter
- GATAD2B p.Pro372Thr Uncertain significance Single submitter
Predictors split 62
The independent predictors disagree with each other — read with care.
- GATAD2B p.Arg111Trp Uncertain significance Multiple submitters
-
GATAD2B p.Arg174Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Arg424His
Uncertain significance
Multiple submitters
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
-
GATAD2B p.Arg478Gln
Uncertain significance
Multiple submitters
autism spectrum disorder
-
GATAD2B p.Arg573His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Asn532Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GATAD2B p.Asp106Asn Uncertain significance Multiple submitters
- GATAD2B p.Gln349Arg Uncertain significance Multiple submitters
-
GATAD2B p.Met45Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATAD2B p.Ser246Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GATAD2B p.Ala352Val Uncertain significance Single submitter
- GATAD2B p.Ala534Pro Uncertain significance Single submitter
- GATAD2B p.Arg10Cys Conflicting Single submitter
- GATAD2B p.Arg145Ser Uncertain significance Single submitter
- GATAD2B p.Arg162Gln Uncertain significance Single submitter
- GATAD2B p.Arg16Gln Uncertain significance Single submitter
- GATAD2B p.Arg179Gln Likely benign Single submitter
- GATAD2B p.Arg249Cys Uncertain significance Single submitter
- GATAD2B p.Arg264Cys Uncertain significance Single submitter
-
GATAD2B p.Arg424Cys
Conflicting
Single submitter
Inborn genetic diseases
- GATAD2B p.Arg42Cys Uncertain significance Single submitter
- GATAD2B p.Arg42His Uncertain significance Single submitter
- GATAD2B p.Arg509Pro Uncertain significance Single submitter
- GATAD2B p.Arg509Trp Uncertain significance Single submitter
- GATAD2B p.Arg583Gln Uncertain significance Single submitter
-
GATAD2B p.Asn319Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.Gln263Arg Uncertain significance Single submitter
-
GATAD2B p.Gln470Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATAD2B p.Gln482His
Likely pathogenic
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Glu103Lys Uncertain significance Single submitter
- GATAD2B p.Gly218Glu Uncertain significance Single submitter
- GATAD2B p.Gly36Arg Uncertain significance Single submitter
- GATAD2B p.Gly36Glu Uncertain significance Single submitter
- GATAD2B p.Gly561Arg Uncertain significance Single submitter
- GATAD2B p.His245Arg Uncertain significance Single submitter
- GATAD2B p.His37Arg Uncertain significance Single submitter
- GATAD2B p.His37Leu Uncertain significance Single submitter
- GATAD2B p.His430Arg Uncertain significance Single submitter
- GATAD2B p.His430Tyr Uncertain significance Single submitter
- GATAD2B p.Ile126Val Uncertain significance Single submitter
- GATAD2B p.Ile248Val Uncertain significance Single submitter
-
GATAD2B p.Ile316Asn
Uncertain significance
Single submitter
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- GATAD2B p.Leu225Arg Uncertain significance Single submitter
- GATAD2B p.Leu336Arg Uncertain significance Single submitter
- GATAD2B p.Leu43Val Uncertain significance Single submitter
- GATAD2B p.Lys157Glu Uncertain significance Single submitter
-
GATAD2B p.Lys199Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.Lys33Thr Uncertain significance Single submitter
- GATAD2B p.Met153Thr Uncertain significance Single submitter
- GATAD2B p.Met259Thr Uncertain significance Single submitter
- GATAD2B p.Met261Thr Uncertain significance Single submitter
-
GATAD2B p.Met391Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.Met391Val Uncertain significance Single submitter
- GATAD2B p.Pro123Arg Uncertain significance Single submitter
-
GATAD2B p.Ser122Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GATAD2B p.Ser189Arg Uncertain significance Single submitter
- GATAD2B p.Ser189Asn Uncertain significance Single submitter
- GATAD2B p.Ser497Arg Uncertain significance Single submitter
- GATAD2B p.Ser586Leu Uncertain significance Single submitter
- GATAD2B p.Tyr317His Uncertain significance Single submitter
- GATAD2B p.Val105Met Uncertain significance Single submitter
- GATAD2B p.Val127Asp Uncertain significance Single submitter
All GATAD2B variants
Pathogenic 77
- p.Arg116Ter Multiple submitters Paediatric disorders
- p.Arg174Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Arg179Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln190fs Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln192Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln219Ter Multiple submitters
- p.Gln220Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln274fs Multiple submitters Inborn genetic diseases
- p.Gln325Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln470Ter Multiple submitters Inborn genetic diseases
- p.Gln477Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln67Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Glu144fs Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gly218fs Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.His216fs Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Pro307fs Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Pro370fs Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.1216+2T>C Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.1217-2A>G Single submitter
- c.1419+1G>A Single submitter intellectual disability
- c.335+1G>A Single submitter
- c.335+1G>T Single submitter
- c.335+2T>G Single submitter
- c.465+2T>C Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.466-1G>C Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.730-2A>G Single submitter
- p.Ala39fs Single submitter intellectual disability
- p.Ala92fs Single submitter Inborn genetic diseases
- p.Arg460fs Single submitter
- p.Arg51fs Single submitter GATAD2B-related disorder
- p.Arg84fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Cys441Arg Single submitter
- p.Cys444fs Single submitter
- p.Gln163Ter Single submitter
- p.Gln188fs Single submitter
- p.Gln219fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln232Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln237Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln243Ter Single submitter Inborn genetic diseases
- p.Gln274Ter Single submitter
- p.Gln299Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln349Ter Single submitter
- p.Gln359Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln399fs Single submitter
- p.Gln470fs Single submitter
- p.Gln471Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln482Ter Single submitter Inborn genetic diseases
- p.Glu152fs Single submitter Inborn genetic diseases
- p.Glu177_Leu180del Single submitter
- p.Glu472fs Single submitter
- p.Glu476Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Glu62fs Single submitter
- p.Glu77Ter Single submitter Inborn genetic diseases
- p.Gly406Arg Single submitter ⚠
- p.His245fs Single submitter
- p.His61fs Single submitter
- p.Ile166fs Single submitter
- p.Leu173fs Single submitter
- p.Leu364fs Single submitter Inborn genetic diseases
- p.Lys224fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Lys362fs Single submitter
- p.Met259fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Met40fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ser108fs Single submitter
- p.Ser122Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ser348Ter Single submitter
- p.Ser411fs Single submitter
- p.Ser411Ter Single submitter Inborn genetic diseases
- p.Thr328fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Tyr298fs Single submitter
- c.1217-633_1419+490del No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ala421fs No assertion criteria
- p.Cys420Arg No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Glu472Ter No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Leu180Pro No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Leu28fs No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Lys184fs No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Pathogenic/Likely pathogenic 6
- c.1217-399C>T Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Arg414Gln Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Arg478Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln473Ter Multiple submitters GATAD2B-related disorder
- p.Gln480Ter Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ser400fs Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Likely pathogenic 30
- c.597+1G>A Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.1419+1G>C Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.1419+1G>T Single submitter Inborn genetic diseases
- c.730-1G>T Single submitter Inborn genetic diseases
- p.Arg141fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Arg228fs Single submitter
- p.Arg24Ter Single submitter Inborn genetic diseases
- p.Arg31Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Asn131fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Asn205fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Asp130fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln299fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln359fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln482His Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Gln513Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Glu115Ter Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Glu176fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Glu442Ter Single submitter GATAD2B-related disorder
- p.Gly327fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ile316Met Single submitter ⚠
- p.Leu128fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Leu469fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Lys97fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ser139fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ter594Gln Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Trp431Ter Single submitter GATAD2B-related disorder
- p.Val401fs Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.598-1G>A No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln481Ter No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Lys52fs No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Conflicting classifications of pathogenicity 20
- c.1648+1G>A Single submitter ⚠
- p.Ala554Gly Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Arg10Cys Single submitter ⚠
- p.Arg414Trp Single submitter ⚠
- p.Arg424Cys Single submitter Inborn genetic diseases ⚠
- p.Glu23Lys Single submitter Inborn genetic diseases ⚠
- p.Gly393Ser Single submitter GATAD2B-related disorder ⚠
- p.Ile585Val Single submitter Inborn genetic diseases ⚠
- p.Leu284= Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Met292Val Single submitter ⚠
- p.Pro226Ser Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Pro279Leu Single submitter Inborn genetic diseases ⚠
- p.Pro294= Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Pro300= Single submitter
- p.Pro300Leu Single submitter ⚠
- p.Ser303Asn Single submitter ⚠
- p.Thr288Ala Single submitter Inborn genetic diseases ⚠
- p.Thr328Met Single submitter ⚠
- p.Thr489= Single submitter
- p.Val285Ala Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
Benign 31
- c.1530+14T>C Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.336-86C>T Multiple submitters
- c.729+15G>A Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.1216+15T>G Single submitter
- c.1216+172GT[18] Single submitter
- c.1216+172GT[19] Single submitter
- c.1216+172GT[20] Single submitter
- c.1216+172GT[25] Single submitter
- c.1216+172GT[26] Single submitter
- c.1216+172GT[27] Single submitter
- c.1217-254C>T Single submitter
- c.1420-253C>G Single submitter
- c.1420-59del Single submitter
- c.1420-76dup Single submitter
- c.1648+178C>G Single submitter
- c.1649-291G>A Single submitter
- c.335+30T>C Single submitter
- c.335+31A>G Single submitter
- c.465+12_465+15del Single submitter
- c.597+99_597+101del Single submitter
- c.598-144del Single submitter
- c.729+13T>C Single submitter
- c.900+26G>A Single submitter
- c.901-35A>G Single submitter
- c.-1-143GT[14] Single submitter
- c.-1-143GT[15] Single submitter
- c.-1-143GT[17] Single submitter
- c.-1-143GT[19] Single submitter
- c.-1-143GT[20] Single submitter
- c.-1-274G>A Single submitter
- p.Ala148Glu Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Benign/Likely benign 9
- c.729+10C>G Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ala346= Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ala410Gly Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ala490Val Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Asn80= Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Pro226Ala Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ser139Gly Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Ser340= Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Thr312Ala Multiple submitters
Likely benign 192
- c.466-15T>C Multiple submitters
- c.730-36C>T Multiple submitters
- c.730-7C>T Multiple submitters
- c.730-9C>T Multiple submitters
- c.901-86G>T Multiple submitters
- p.Arg187= Multiple submitters
- p.Gln443= Multiple submitters
- p.Leu354= Multiple submitters
- p.Leu485= Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Thr328= Multiple submitters
- p.Thr507= Multiple submitters
- c.1216+13C>T Single submitter
- c.1216+14T>G Single submitter
- c.1216+9G>C Single submitter
- c.1217-17T>G Single submitter
- c.1217-18A>G Single submitter
- c.1217-20C>T Single submitter
- c.1217-8G>A Single submitter
- c.1419+14C>T Single submitter
- c.1419+19C>T Single submitter
- c.1420-16T>G Single submitter
- c.1420-18T>C Single submitter
- c.1420-20G>A Single submitter
- c.1420-20G>T Single submitter
- c.1420-6C>T Single submitter
- c.1530+9C>T Single submitter
- c.1531-10A>T Single submitter
- c.1531-11C>T Single submitter
- c.1531-12del Single submitter
- c.1531-13C>T Single submitter
- c.1531-16C>T Single submitter
- c.1531-20C>G Single submitter
- c.1531-33_1531-13dup Single submitter
- c.1531-9del Single submitter
- c.1648+113G>A Single submitter
- c.1649-4C>A Single submitter
- c.1649-52A>G Single submitter
- c.335+10A>G Single submitter
- c.335+15A>G Single submitter
- c.335+19G>A Single submitter
- c.335+20C>T Single submitter
- c.336-12T>C Single submitter
- c.336-13C>A Single submitter
- c.336-19T>G Single submitter
- c.336-6G>T Single submitter
- c.336-7T>C Single submitter
- c.336-9C>G Single submitter
- c.465+10A>T Single submitter
- c.465+11A>G Single submitter
- c.465+17A>G Single submitter
- c.465+20T>G Single submitter
- c.465+33T>G Single submitter
- c.466-11T>C Single submitter
- c.466-13C>T Single submitter
- c.466-18G>A Single submitter
- c.466-19dup Single submitter
- c.597+108C>T Single submitter
- c.597+186G>A Single submitter
- c.597+18dup Single submitter
- c.597+18T>C Single submitter
- c.597+20A>G Single submitter
- c.597+8G>C Single submitter
- c.597+9C>T Single submitter
- c.598-12T>A Single submitter
- c.598-145_598-144del Single submitter
- c.598-14C>T Single submitter
- c.598-20T>C Single submitter
- c.729+10C>A Single submitter
- c.729+10C>T Single submitter
- c.729+20A>T Single submitter
- c.729+7G>C Single submitter
- c.730-11T>G Single submitter
- c.730-15C>T Single submitter
- c.730-4C>G Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.900+18C>T Single submitter
- c.900+266A>G Single submitter
- c.901-12A>C Single submitter
- c.901-15C>G Single submitter
- c.901-7A>G Single submitter
- p.Ala133= Single submitter
- p.Ala206= Single submitter
- p.Ala21= Single submitter
- p.Ala345= Single submitter
- p.Ala421= Single submitter
- p.Ala455= Single submitter
- p.Ala526= Single submitter
- p.Ala92= Single submitter
- p.Arg116= Single submitter
- p.Arg179Gln Single submitter ⚠
- p.Arg228= Single submitter
- p.Arg249= Single submitter
- p.Arg460= Single submitter
- p.Arg478= Single submitter
- p.Arg51= Single submitter
- p.Arg527= Single submitter
- p.Arg90= Single submitter
- p.Arg94= Single submitter
- p.Asn101= Single submitter
- p.Asn150= Single submitter
- p.Asn205= Single submitter
- p.Asn269= Single submitter
- p.Asn347= Single submitter
- p.Asn532= Single submitter
- p.Asn82= Single submitter
- p.Asp2= Single submitter
- p.Asp26= Single submitter
- p.Cys444= Single submitter
- p.Gln359= Single submitter
- p.Gln399= Single submitter
- p.Gln422= Single submitter
- p.Gln477= Single submitter
- p.Gln535= Single submitter
- p.Gln538= Single submitter
- p.Glu103= Single submitter
- p.Glu172= Single submitter
- p.Glu23= Single submitter
- p.Glu456= Single submitter
- p.Glu76= Single submitter
- p.Gly283= Single submitter
- p.Gly327= Single submitter
- p.Gly559= Single submitter
- p.Gly565= Single submitter
- p.His216= Single submitter
- p.His86= Single submitter
- p.Ile166= Single submitter
- p.Ile522= Single submitter
- p.Ile560= Single submitter
- p.Ile589= Single submitter
- p.Leu119= Single submitter
- p.Leu14= Single submitter
- p.Leu146= Single submitter
- p.Leu173= Single submitter
- p.Leu175= Single submitter
- p.Leu182= Single submitter
- p.Leu191= Single submitter
- p.Leu365= Single submitter
- p.Leu440= Single submitter
- p.Leu453= Single submitter
- p.Leu46= Single submitter
- p.Leu479= Single submitter
- p.Leu539= Single submitter
- p.Leu54= Single submitter
- p.Leu545= Single submitter
- p.Leu568= Single submitter
- p.Leu577= Single submitter
- p.Leu63= Single submitter
- p.Leu83= Single submitter
- p.Lys167= Single submitter
- p.Lys193= Single submitter
- p.Lys435= Single submitter
- p.Phe418= Single submitter
- p.Phe533= Single submitter
- p.Pro104= Single submitter
- p.Pro123= Single submitter
- p.Pro279= Single submitter
- p.Pro326Leu Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Pro369= Single submitter
- p.Pro372= Single submitter
- p.Pro375= Single submitter
- p.Pro487= Single submitter
- p.Pro514= Single submitter
- p.Pro537= Single submitter
- p.Pro64= Single submitter
- p.Pro85= Single submitter
- p.Ser213= Single submitter
- p.Ser227= Single submitter
- p.Ser304= Single submitter
- p.Ser334= Single submitter
- p.Ser386= Single submitter
- p.Ser486= Single submitter
- p.Ser494= Single submitter
- p.Ser586= Single submitter
- p.Ser70= Single submitter
- p.Thr241= Single submitter
- p.Thr254= Single submitter
- p.Thr255= Single submitter
- p.Thr288= Single submitter
- p.Thr343= Single submitter
- p.Thr363= Single submitter
- p.Thr428= Single submitter
- p.Thr5= Single submitter
- p.Thr501= Single submitter
- p.Tyr298= Single submitter
- p.Val217= Single submitter
- p.Val247= Single submitter
- p.Val285= Single submitter
- p.Val332= Single submitter
- p.Val397= Single submitter
- p.Val398= Single submitter
- p.Val415= Single submitter
- p.Val493= Single submitter
- c.-1-5C>A No assertion criteria GATAD2B-related disorder
Uncertain significance 278
- c.900+5G>C Multiple submitters Inborn genetic diseases
- p.Ala148Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala251Thr Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Ala295Thr Multiple submitters ⚠
- p.Ala55Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala55Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg111Trp Multiple submitters ⚠
- p.Arg137Cys Multiple submitters ⚠
- p.Arg162Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg174Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg24Gln Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Arg357Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg424His Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Arg460Gln Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Arg460Trp Multiple submitters ⚠
- p.Arg478Gln Multiple submitters autism spectrum disorder ⚠
- p.Arg520His Multiple submitters ⚠
- p.Arg573His Multiple submitters Inborn genetic diseases ⚠
- p.Asn297Ser Multiple submitters ⚠
- p.Asn347Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn532Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp106Asn Multiple submitters ⚠
- p.Gln243= Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Gln349Arg Multiple submitters ⚠
- p.Glu115Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu23Ala Multiple submitters ⚠
- p.Glu76Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly117Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile100Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile126Thr Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Ile159Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile209Phe Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Leu9Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys199= Multiple submitters
- p.Met45Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe418Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro136_Arg137del Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Pro236Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro300Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro487Ser Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Ser17Thr Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Ser246Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser303Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser494Pro Multiple submitters ⚠
- p.Thr241Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr65Ala Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Val210Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val541Leu Multiple submitters severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Val59Leu Multiple submitters ⚠
- c.1216+3A>T Single submitter
- c.1217-15T>G Single submitter
- c.1217-5T>C Single submitter
- c.1419+4A>G Single submitter
- c.1420-4A>T Single submitter Inborn genetic diseases
- c.1530+4A>G Single submitter
- c.1530+6G>A Single submitter
- c.1648+6_1648+8del Single submitter
- c.1649-8G>A Single submitter
- c.336-3T>C Single submitter
- c.597+2_597+3dup Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- c.597+4A>G Single submitter
- c.901-10T>A Single submitter
- c.901-2A>G Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.512PQ[1] Single submitter
- p.Ala109Val Single submitter ⚠
- p.Ala133Thr Single submitter ⚠
- p.Ala178Pro Single submitter ⚠
- p.Ala271Ser Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala315Gly Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Ala352Val Single submitter ⚠
- p.Ala464Glu Single submitter ⚠
- p.Ala464Val Single submitter ⚠
- p.Ala468Thr Single submitter ⚠
- p.Ala483Thr Single submitter ⚠
- p.Ala492Val Single submitter ⚠
- p.Ala534Pro Single submitter ⚠
- p.Ala536Pro Single submitter ⚠
- p.Ala536Thr Single submitter ⚠
- p.Ala536Val Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Arg116Leu Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg137Leu Single submitter ⚠
- p.Arg145Ile Single submitter ⚠
- p.Arg145Ser Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg162Pro Single submitter ⚠
- p.Arg16Gln Single submitter ⚠
- p.Arg228Gln Single submitter ⚠
- p.Arg228Trp Single submitter ⚠
- p.Arg249Cys Single submitter ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg286Cys Single submitter
- p.Arg286His Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg42His Single submitter ⚠
- p.Arg460Leu Single submitter ⚠
- p.Arg509Gln Single submitter ⚠
- p.Arg509Pro Single submitter ⚠
- p.Arg509Trp Single submitter ⚠
- p.Arg520Cys Single submitter
- p.Arg571Ter Single submitter
- p.Arg583Gln Single submitter ⚠
- p.Asn101Asp Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn238His Single submitter ⚠
- p.Asn253Ser Single submitter ⚠
- p.Asn291Ser Single submitter ⚠
- p.Asn319Lys Single submitter Inborn genetic diseases ⚠
- p.Asn385Ser Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.Asn532His Single submitter ⚠
- p.Asn557His Single submitter ⚠
- p.Asn89Ser Single submitter ⚠
- p.Asp19Glu Single submitter ⚠
- p.Asp403Glu Single submitter ⚠
- p.Asp68Gly Single submitter ⚠
- p.Cys409Gly Single submitter Inborn genetic diseases ⚠
- p.Cys441Ser Single submitter ⚠
- p.Gln168His Single submitter Inborn genetic diseases ⚠
- p.Gln211His Single submitter ⚠
- p.Gln211Pro Single submitter ⚠
- p.Gln263Arg Single submitter ⚠
- p.Gln274Arg Single submitter ⚠
- p.Gln301Pro Single submitter Inborn genetic diseases ⚠
- p.Gln309His Single submitter ⚠
- p.Gln359His Single submitter ⚠
- p.Gln399Glu Single submitter ⚠
- p.Gln405Lys Single submitter ⚠
- p.Gln470Arg Single submitter Inborn genetic diseases ⚠
- p.Gln535Arg Single submitter ⚠
- p.Gln538Arg Single submitter ⚠
- p.Gln538Pro Single submitter ⚠
- p.Gln587fs Single submitter
- p.Gln587Ter Single submitter
- p.Gln592His Single submitter ⚠
- p.Gln67Arg Single submitter ⚠
- p.Gln67Leu Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu152Gln Single submitter ⚠
- p.Glu160Gly Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu35Asp Single submitter ⚠
- p.Glu77Gly Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Gly218Glu Single submitter ⚠
- p.Gly244Ser Single submitter ⚠
- p.Gly36Arg Single submitter ⚠
- p.Gly36Glu Single submitter ⚠
- p.Gly547Ala Single submitter GATAD2B-related intellectual disability syndrome ⚠
- p.Gly561Arg Single submitter ⚠
- p.Gly562= Single submitter
- p.Gly71Asp Single submitter ⚠
- p.Gly87Arg Single submitter ⚠
- p.Gly96= Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- p.His245Arg Single submitter ⚠
- p.His245Tyr Single submitter Inborn genetic diseases ⚠
- p.His258Arg Single submitter ⚠
- p.His323Arg Single submitter ⚠
- p.His37Arg Single submitter ⚠
- p.His37Leu Single submitter ⚠
- p.His430Arg Single submitter ⚠
- p.His430Tyr Single submitter ⚠
- p.His505Arg Single submitter ⚠
- p.His506Gln Single submitter ⚠
- p.His61Arg Single submitter ⚠
- p.His86Tyr Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Ile126Val Single submitter ⚠
- p.Ile159Thr Single submitter ⚠
- p.Ile209Val Single submitter ⚠
- p.Ile248Met Single submitter ⚠
- p.Ile248Val Single submitter ⚠
- p.Ile316Asn Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Ile324Thr Single submitter ⚠
- p.Ile439Ser Single submitter ⚠
- p.Ile502Val Single submitter ⚠
- p.Ile522Val Single submitter ⚠
- p.Ile589Leu Single submitter ⚠
- p.Ile589Val Single submitter ⚠
- p.Leu11Phe Single submitter ⚠
- p.Leu165Phe Single submitter ⚠
- p.Leu175Ser Single submitter ⚠
- p.Leu225Arg Single submitter ⚠
- p.Leu225His Single submitter ⚠
- p.Leu225Phe Single submitter ⚠
- p.Leu256Ile Single submitter ⚠
- p.Leu256Phe Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Leu336Arg Single submitter ⚠
- p.Leu43Val Single submitter ⚠
- p.Leu440Pro Single submitter ⚠
- p.Leu508Val Single submitter ⚠
- p.Leu546fs Single submitter
- p.Leu568Val Single submitter ⚠
- p.Lys157Glu Single submitter ⚠
- p.Lys199Asn Single submitter Inborn genetic diseases ⚠
- p.Lys33Arg Single submitter ⚠
- p.Lys33Thr Single submitter ⚠
- p.Lys593= Single submitter
- p.Met142Arg Single submitter ⚠
- p.Met142Ile Single submitter ⚠
- p.Met153Thr Single submitter ⚠
- p.Met259Thr Single submitter ⚠
- p.Met259Val Single submitter ⚠
- p.Met261Thr Single submitter ⚠
- p.Met292Ile Single submitter ⚠
- p.Met318Val Single submitter ⚠
- p.Met342Leu Single submitter ⚠
- p.Met342Val Single submitter ⚠
- p.Met34Val Single submitter ⚠
- p.Met391Ile Single submitter Inborn genetic diseases ⚠
- p.Met391Val Single submitter ⚠
- p.Met445Lys Single submitter ⚠
- p.Met4Ile Single submitter ⚠
- p.Phe379Leu Single submitter ⚠
- p.Phe427Cys Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Pro104Leu Single submitter Inborn genetic diseases ⚠
- p.Pro123Arg Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro214Ser Single submitter ⚠
- p.Pro236Leu Single submitter ⚠
- p.Pro290Ala Single submitter ⚠
- p.Pro300Ala Single submitter ⚠
- p.Pro307Ala Single submitter ⚠
- p.Pro326= Single submitter
- p.Pro337Leu Single submitter ⚠
- p.Pro369Leu Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Pro370Thr Single submitter ⚠
- p.Pro372Thr Single submitter ⚠
- p.Pro514Ser Single submitter ⚠
- p.Pro523Ser Single submitter ⚠
- p.Pro537His Single submitter ⚠
- p.Pro542Ser Single submitter ⚠
- p.Pro60Ala Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser122Leu Single submitter Inborn genetic diseases ⚠
- p.Ser189Arg Single submitter ⚠
- p.Ser189Asn Single submitter ⚠
- p.Ser223Phe Single submitter Inborn genetic diseases ⚠
- p.Ser227Phe Single submitter ⚠
- p.Ser227Pro Single submitter ⚠
- p.Ser303Gly Single submitter ⚠
- p.Ser411Ala Single submitter ⚠
- p.Ser495Asn Single submitter ⚠
- p.Ser497Arg Single submitter ⚠
- p.Ser567Asn Single submitter ⚠
- p.Ser586Leu Single submitter ⚠
- p.Ser588Ala Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Ser588Cys Single submitter ⚠
- p.Thr254Asn Single submitter ⚠
- p.Thr287Ser Single submitter ⚠
- p.Thr343Ile Single submitter ⚠
- p.Thr425Ser Single submitter ⚠
- p.Thr489Met Single submitter ⚠
- p.Thr501Ser Single submitter ⚠
- p.Thr507Met Single submitter ⚠
- p.Thr524Ala Single submitter ⚠
- p.Thr65Ile Single submitter ⚠
- p.Thr65Pro Single submitter Inborn genetic diseases ⚠
- p.Trp431Gly Single submitter ⚠
- p.Tyr317His Single submitter ⚠
- p.Val105Met Single submitter ⚠
- p.Val127Asp Single submitter ⚠
- p.Val196Ala Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Val196Met Single submitter ⚠
- p.Val202Ala Single submitter ⚠
- p.Val202Ile Single submitter ⚠
- p.Val210Ile Single submitter ⚠
- p.Val234Ala Single submitter ⚠
- p.Val27Ile Single submitter ⚠
- p.Val392Glu Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Val397Asp Single submitter severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠
- p.Val415Ile Single submitter ⚠
- p.Val419Ile Single submitter ⚠
- p.Val493Met Single submitter Inborn genetic diseases ⚠
- p.Val541Met Single submitter ⚠
- p.Ala464Thr No assertion criteria severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ⚠