GATAD2A — 120 ClinVar variants
All ClinVar germline GATAD2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
1 Likely pathogenic · 1 Benign · 1 Benign/Likely benign · 8 Likely benign · 109 Uncertain significance
Full GATAD2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
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 lean, ClinVar uncertain 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GATAD2A p.Asp80Asn Uncertain significance Multiple submitters
- GATAD2A p.Ala124Ser Uncertain significance Single submitter
- GATAD2A p.Ala124Val Uncertain significance Single submitter
- GATAD2A p.Ala14Val Uncertain significance Single submitter
- GATAD2A p.Ala274Val Uncertain significance Single submitter
- GATAD2A p.Ala324Ser Uncertain significance Single submitter
- GATAD2A p.Ala370Val Uncertain significance Single submitter
- GATAD2A p.Ala379Thr Uncertain significance Single submitter
- GATAD2A p.Ala380Thr Uncertain significance Single submitter
- GATAD2A p.Ala407Thr Uncertain significance Single submitter
- GATAD2A p.Ala494Ser Uncertain significance Single submitter
- GATAD2A p.Ala596Gly Uncertain significance Single submitter
- GATAD2A p.Ala596Val Uncertain significance Single submitter
- GATAD2A p.Arg116Lys Uncertain significance Single submitter
- GATAD2A p.Arg293Cys Uncertain significance Single submitter
- GATAD2A p.Arg293His Uncertain significance Single submitter
- GATAD2A p.Arg344Gln Uncertain significance Single submitter
- GATAD2A p.Arg353Cys Uncertain significance Single submitter
- GATAD2A p.Arg404Thr Uncertain significance Single submitter
- GATAD2A p.Arg413Pro Uncertain significance Single submitter
- GATAD2A p.Arg413Trp Uncertain significance Single submitter
- GATAD2A p.Arg476Gln Uncertain significance Single submitter
- GATAD2A p.Arg506Gln Uncertain significance Single submitter
- GATAD2A p.Arg517Cys Uncertain significance Single submitter
- GATAD2A p.Arg533Gln Uncertain significance Single submitter
- GATAD2A p.Arg540Gln Uncertain significance Single submitter
- GATAD2A p.Arg7Gln Uncertain significance Single submitter
- GATAD2A p.Arg86Cys Uncertain significance Single submitter
- GATAD2A p.Arg86His Uncertain significance Single submitter
- GATAD2A p.Asn109Ser Uncertain significance Single submitter
- GATAD2A p.Asn305Ser Uncertain significance Single submitter
- GATAD2A p.Asn583Ser Uncertain significance Single submitter
- GATAD2A p.Asp108Asn Uncertain significance Single submitter
- GATAD2A p.Asp518Asn Uncertain significance Single submitter
-
GATAD2A p.Cys421Tyr
Uncertain significance
Single submitter
GATAD2A-associated neurodevelopmental disorder
- GATAD2A p.Cys427Trp Uncertain significance Single submitter
- GATAD2A p.Gln241Pro Uncertain significance Single submitter
- GATAD2A p.Gln468Arg Uncertain significance Single submitter
- GATAD2A p.Glu95Lys Uncertain significance Single submitter
- GATAD2A p.Gly203Ser Uncertain significance Single submitter
- GATAD2A p.Gly216Ser Uncertain significance Single submitter
- GATAD2A p.Gly522Trp Uncertain significance Single submitter
- GATAD2A p.Gly55Ser Uncertain significance Single submitter
- GATAD2A p.Gly566Ser Uncertain significance Single submitter
- GATAD2A p.His260Asn Uncertain significance Single submitter
- GATAD2A p.His89Pro Uncertain significance Single submitter
- GATAD2A p.Ile104Thr Uncertain significance Single submitter
- GATAD2A p.Ile385Leu Uncertain significance Single submitter
- GATAD2A p.Leu223Val Uncertain significance Single submitter
- GATAD2A p.Lys354Gln Uncertain significance Single submitter
-
GATAD2A p.Lys358Thr
Uncertain significance
Single submitter
neurodevelopmental disorder
- GATAD2A p.Lys367Arg Uncertain significance Single submitter
- GATAD2A p.Met46Val Uncertain significance Single submitter
- GATAD2A p.Met71Thr Uncertain significance Single submitter
- GATAD2A p.Pro309Ser Uncertain significance Single submitter
- GATAD2A p.Pro415Ala Uncertain significance Single submitter
- GATAD2A p.Pro548Leu Uncertain significance Single submitter
- GATAD2A p.Pro550Leu Uncertain significance Single submitter
- GATAD2A p.Pro56Leu Uncertain significance Single submitter
- GATAD2A p.Ser232Leu Uncertain significance Single submitter
- GATAD2A p.Ser275Leu Uncertain significance Single submitter
- GATAD2A p.Ser406Leu Uncertain significance Single submitter
- GATAD2A p.Ser513Pro Uncertain significance Single submitter
- GATAD2A p.Ser532Phe Uncertain significance Single submitter
- GATAD2A p.Ser535Leu Uncertain significance Single submitter
- GATAD2A p.Ser557Leu Uncertain significance Single submitter
- GATAD2A p.Ser590Asn Uncertain significance Single submitter
- GATAD2A p.Thr128Ile Uncertain significance Single submitter
- GATAD2A p.Thr130Ile Uncertain significance Single submitter
-
GATAD2A p.Thr209Ile
Uncertain significance
Single submitter
GATAD2A-associated neurodevelopmental disorder
- GATAD2A p.Thr318Ile Uncertain significance Single submitter
- GATAD2A p.Thr320Ile Uncertain significance Single submitter
- GATAD2A p.Thr329Ile Uncertain significance Single submitter
- GATAD2A p.Thr445Ala Uncertain significance Single submitter
- GATAD2A p.Thr538Lys Uncertain significance Single submitter
- GATAD2A p.Thr538Met Uncertain significance Single submitter
- GATAD2A p.Thr559Ile Uncertain significance Single submitter
- GATAD2A p.Val187Met Uncertain significance Single submitter
- GATAD2A p.Val304Ile Uncertain significance Single submitter
- GATAD2A p.Val453Met Uncertain significance Single submitter
- GATAD2A p.Val562Ala Uncertain significance Single submitter
- GATAD2A p.Val611Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- GATAD2A p.Ala346Val Uncertain significance Single submitter
- GATAD2A p.Ala461Asp Uncertain significance Single submitter
- GATAD2A p.Arg13Gln Uncertain significance Single submitter
- GATAD2A p.Arg533Trp Uncertain significance Single submitter
- GATAD2A p.Arg615Gln Uncertain significance Single submitter
- GATAD2A p.Arg625Cys Uncertain significance Single submitter
- GATAD2A p.Asn446Ser Uncertain significance Single submitter
- GATAD2A p.Gln420Arg Uncertain significance Single submitter
- GATAD2A p.Gln629Arg Uncertain significance Single submitter
-
GATAD2A p.Gly403Val
Uncertain significance
Single submitter
GATAD2A-associated neurodevelopmental disorder
- GATAD2A p.Leu193Phe Uncertain significance Single submitter
- GATAD2A p.Lys349Asn Uncertain significance Single submitter
- GATAD2A p.Met621Thr Uncertain significance Single submitter
- GATAD2A p.Pro190Arg Uncertain significance Single submitter
- GATAD2A p.Pro266Leu Uncertain significance Single submitter
- GATAD2A p.Ser137Cys Uncertain significance Single submitter
- GATAD2A p.Ser168Gly Uncertain significance Single submitter
- GATAD2A p.Ser340Pro Uncertain significance Single submitter
- GATAD2A p.Ser520Arg Uncertain significance Single submitter
- GATAD2A p.Ser563Arg Uncertain significance Single submitter
- GATAD2A p.Val160Met Uncertain significance Single submitter
All GATAD2A variants
Likely pathogenic 1
- p.Ile627fs Single submitter GATAD2A-associated neurodevelopmental disorder
Benign 1
- p.Glu432del Single submitter
Benign/Likely benign 1
- p.Pro497= Multiple submitters
Likely benign 8
- p.Ala176Thr Single submitter
- p.Ala212Thr Single submitter
- p.Ala493Thr Single submitter
- p.Glu65Gln Single submitter
- p.Ser256Asn Single submitter
- p.Ser579Asn Single submitter
- p.Ser90= Single submitter
- p.Thr64Ala Single submitter
Uncertain significance 109
- p.Asp80Asn Multiple submitters ⚠
- c.1504-1G>C Single submitter GATAD2A-related disorder
- c.-7+21975T>C Single submitter GATAD2A-related disorder
- p.Ala124Ser Single submitter ⚠
- p.Ala124Val Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala324Ser Single submitter ⚠
- p.Ala346Val Single submitter ⚠
- p.Ala370Val Single submitter ⚠
- p.Ala379Thr Single submitter ⚠
- p.Ala380Thr Single submitter ⚠
- p.Ala407Thr Single submitter ⚠
- p.Ala461Asp Single submitter ⚠
- p.Ala494Ser Single submitter ⚠
- p.Ala596Gly Single submitter ⚠
- p.Ala596Val Single submitter ⚠
- p.Arg116Lys Single submitter ⚠
- p.Arg13Gln Single submitter ⚠
- p.Arg225Ter Single submitter GATAD2A-associated neurodevelopmental disorder
- p.Arg293Cys Single submitter ⚠
- p.Arg293His Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Arg404Thr Single submitter ⚠
- p.Arg413Pro Single submitter ⚠
- p.Arg413Trp Single submitter ⚠
- p.Arg430Gln Single submitter
- p.Arg476Gln Single submitter ⚠
- p.Arg506Gln Single submitter ⚠
- p.Arg517Cys Single submitter ⚠
- p.Arg533Gln Single submitter ⚠
- p.Arg533Trp Single submitter ⚠
- p.Arg540Gln Single submitter ⚠
- p.Arg615Gln Single submitter ⚠
- p.Arg625Cys Single submitter ⚠
- p.Arg7Gln Single submitter ⚠
- p.Arg86Cys Single submitter ⚠
- p.Arg86His Single submitter ⚠
- p.Asn109Ser Single submitter ⚠
- p.Asn305Ser Single submitter ⚠
- p.Asn446Ser Single submitter ⚠
- p.Asn583Ser Single submitter ⚠
- p.Asp108Asn Single submitter ⚠
- p.Asp518Asn Single submitter ⚠
- p.Cys421Tyr Single submitter GATAD2A-associated neurodevelopmental disorder ⚠
- p.Cys427Trp Single submitter ⚠
- p.Gln241Pro Single submitter ⚠
- p.Gln401Pro Single submitter
- p.Gln420Arg Single submitter ⚠
- p.Gln468Arg Single submitter ⚠
- p.Gln629Arg Single submitter ⚠
- p.Glu95Lys Single submitter ⚠
- p.Gly203Ser Single submitter ⚠
- p.Gly216Ser Single submitter ⚠
- p.Gly403Val Single submitter GATAD2A-associated neurodevelopmental disorder ⚠
- p.Gly522Trp Single submitter ⚠
- p.Gly55Ser Single submitter ⚠
- p.Gly566Ser Single submitter ⚠
- p.His260Asn Single submitter ⚠
- p.His89Pro Single submitter ⚠
- p.Ile104Thr Single submitter ⚠
- p.Ile385Leu Single submitter ⚠
- p.Leu193Phe Single submitter ⚠
- p.Leu223Val Single submitter ⚠
- p.Lys349Asn Single submitter ⚠
- p.Lys354Gln Single submitter ⚠
- p.Lys358Thr Single submitter neurodevelopmental disorder ⚠
- p.Lys367Arg Single submitter ⚠
- p.Met46Val Single submitter ⚠
- p.Met621Thr Single submitter ⚠
- p.Met71Thr Single submitter ⚠
- p.Pro190Arg Single submitter ⚠
- p.Pro266Leu Single submitter ⚠
- p.Pro309Ser Single submitter ⚠
- p.Pro415Ala Single submitter ⚠
- p.Pro548Leu Single submitter ⚠
- p.Pro550Leu Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Ser137Cys Single submitter ⚠
- p.Ser168Gly Single submitter ⚠
- p.Ser232Leu Single submitter ⚠
- p.Ser275Leu Single submitter ⚠
- p.Ser340Pro Single submitter ⚠
- p.Ser406Leu Single submitter ⚠
- p.Ser513Pro Single submitter ⚠
- p.Ser520Arg Single submitter ⚠
- p.Ser532Phe Single submitter ⚠
- p.Ser535Leu Single submitter ⚠
- p.Ser557Leu Single submitter ⚠
- p.Ser563Arg Single submitter ⚠
- p.Ser590Asn Single submitter ⚠
- p.Thr128Ile Single submitter ⚠
- p.Thr130Ile Single submitter ⚠
- p.Thr209Ile Single submitter GATAD2A-associated neurodevelopmental disorder ⚠
- p.Thr318Ile Single submitter ⚠
- p.Thr320Ile Single submitter ⚠
- p.Thr329Ile Single submitter ⚠
- p.Thr445Ala Single submitter ⚠
- p.Thr538Lys Single submitter ⚠
- p.Thr538Met Single submitter ⚠
- p.Thr559Ile Single submitter ⚠
- p.Val160Met Single submitter ⚠
- p.Val187Met Single submitter ⚠
- p.Val242= Single submitter GATAD2A-related disorder
- p.Val304Ile Single submitter ⚠
- p.Val453Met Single submitter ⚠
- p.Val562Ala Single submitter ⚠
- p.Val611Met Single submitter ⚠