TUBB2A — 348 ClinVar variants
All ClinVar germline TUBB2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
9 Pathogenic · 7 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 14 Conflicting · 14 Benign · 8 Benign/Likely benign · 151 Likely benign · 125 Uncertain significance
Full TUBB2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TUBB2A p.Ala248Val
Conflicting
Single submitter
Inborn genetic diseases
- TUBB2A p.Ala302Thr Conflicting Single submitter
-
TUBB2A p.Arg391Cys
Conflicting
Single submitter
Inborn genetic diseases
-
TUBB2A p.Arg391His
Conflicting
Single submitter
complex cortical dysplasia with other brain malformations 5
-
TUBB2A p.Gln291Pro
Conflicting
Single submitter
TUBB2A-related disorder
-
TUBB2A p.Gln292Arg
Conflicting
Single submitter
complex cortical dysplasia with other brain malformations 5
-
TUBB2A p.Met388Thr
Conflicting
Single submitter
complex cortical dysplasia with other brain malformations 5
-
TUBB2A p.Pro243Leu
Conflicting
Single submitter
complex cortical dysplasia with other brain malformations 5
-
TUBB2A p.Ser172Leu
Conflicting
Single submitter
Inborn genetic diseases
-
TUBB2A p.Ser201Cys
Conflicting
Single submitter
complex cortical dysplasia with other brain malformations 5
-
TUBB2A p.Thr285Pro
Conflicting
Single submitter
complex cortical dysplasia with other brain malformations 5
- TUBB2A p.Thr351Met Conflicting Single submitter
-
TUBB2A p.Val193Met
Conflicting
Single submitter
TUBB2A-related tubulinopathy
Predictors lean, ClinVar uncertain 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TUBB2A p.Arg156Gln Uncertain significance Multiple submitters
- TUBB2A p.Arg276Gln Uncertain significance Multiple submitters
-
TUBB2A p.Arg276Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUBB2A p.Gly360Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TUBB2A p.Leu418Val Uncertain significance Multiple submitters
-
TUBB2A p.Thr312Met
Uncertain significance
Multiple submitters
complex cortical dysplasia with other brain malformations 5
- TUBB2A p.Val60Leu Uncertain significance Multiple submitters
- TUBB2A p.Ala110Val Uncertain significance Single submitter
- TUBB2A p.Ala352Thr Uncertain significance Single submitter
- TUBB2A p.Ala445Pro Uncertain significance Single submitter
- TUBB2A p.Ala445Val Uncertain significance Single submitter
- TUBB2A p.Ala54Asp Uncertain significance Single submitter
-
TUBB2A p.Ala55Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB2A p.Arg162His Uncertain significance Single submitter
- TUBB2A p.Arg213His Uncertain significance Single submitter
- TUBB2A p.Arg241Cys Uncertain significance Single submitter
-
TUBB2A p.Arg251Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB2A p.Arg251Ser Uncertain significance Single submitter
- TUBB2A p.Arg262Cys Uncertain significance Single submitter
- TUBB2A p.Arg380Cys Uncertain significance Single submitter
- TUBB2A p.Arg62Trp Uncertain significance Single submitter
- TUBB2A p.Arg86Gly Uncertain significance Single submitter
- TUBB2A p.Asn348Asp Uncertain significance Single submitter
- TUBB2A p.Asn348Ser Uncertain significance Single submitter
- TUBB2A p.Asn370His Uncertain significance Single submitter
- TUBB2A p.Asn414Ser Uncertain significance Single submitter
-
TUBB2A p.Asp197Ala
Uncertain significance
Single submitter
TUBB2A-related disorder
-
TUBB2A p.Asp203Glu
Uncertain significance
Single submitter
complex cortical dysplasia with other brain malformations 5
- TUBB2A p.Asp295Asn Uncertain significance Single submitter
- TUBB2A p.Asp327Tyr Uncertain significance Single submitter
- TUBB2A p.Asp355Gly Uncertain significance Single submitter
- TUBB2A p.Asp443Glu Uncertain significance Single submitter
- TUBB2A p.Asp443Gly Uncertain significance Single submitter
- TUBB2A p.Asp74Tyr Uncertain significance Single submitter
- TUBB2A p.Gln15Arg Uncertain significance Single submitter
- TUBB2A p.Gln94His Uncertain significance Single submitter
-
TUBB2A p.Glu108Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB2A p.Glu181Val Uncertain significance Single submitter
- TUBB2A p.Glu27Lys Uncertain significance Single submitter
- TUBB2A p.Glu325Val Uncertain significance Single submitter
- TUBB2A p.Glu328Lys Uncertain significance Single submitter
- TUBB2A p.Glu405Asp Uncertain significance Single submitter
- TUBB2A p.Glu444Asp Uncertain significance Single submitter
- TUBB2A p.Gly132Asp Uncertain significance Single submitter
- TUBB2A p.Gly235Arg Uncertain significance Single submitter
- TUBB2A p.Gly269Asp Uncertain significance Single submitter
- TUBB2A p.Gly34Asp Uncertain significance Single submitter
- TUBB2A p.Gly82Ser Uncertain significance Single submitter
- TUBB2A p.Gly93Ser Uncertain significance Single submitter
- TUBB2A p.Ile316Thr Uncertain significance Single submitter
-
TUBB2A p.Leu225Phe
Uncertain significance
Single submitter
complex cortical dysplasia with other brain malformations 5
- TUBB2A p.Leu250Pro Uncertain significance Single submitter
- TUBB2A p.Lys174Glu Uncertain significance Single submitter
- TUBB2A p.Lys324Glu Uncertain significance Single submitter
- TUBB2A p.Lys336Asn Uncertain significance Single submitter
-
TUBB2A p.Met170Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB2A p.Met233Ile Uncertain significance Single submitter
- TUBB2A p.Met300Ile Uncertain significance Single submitter
- TUBB2A p.Met363Thr Uncertain significance Single submitter
- TUBB2A p.Phe167Cys Uncertain significance Single submitter
- TUBB2A p.Phe266Leu Uncertain significance Single submitter
- TUBB2A p.Phe270Leu Uncertain significance Single submitter
- TUBB2A p.Phe270Ser Uncertain significance Single submitter
-
TUBB2A p.Phe367Leu
Uncertain significance
Single submitter
complex cortical dysplasia with other brain malformations 5
- TUBB2A p.Phe385Leu Uncertain significance Single submitter
- TUBB2A p.Phe436Val Uncertain significance Single submitter
- TUBB2A p.Phe85Tyr Uncertain significance Single submitter
- TUBB2A p.Phe90Leu Uncertain significance Single submitter
- TUBB2A p.Pro243Arg Uncertain significance Single submitter
- TUBB2A p.Pro358Ser Uncertain significance Single submitter
- TUBB2A p.Pro70Ser Uncertain significance Single submitter
- TUBB2A p.Ser138Cys Uncertain significance Single submitter
- TUBB2A p.Ser176Leu Uncertain significance Single submitter
- TUBB2A p.Ser278Arg Uncertain significance Single submitter
- TUBB2A p.Ser371Gly Uncertain significance Single submitter
-
TUBB2A p.Thr143Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB2A p.Thr149Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB2A p.Thr214Ile Uncertain significance Single submitter
- TUBB2A p.Thr218Ile Uncertain significance Single submitter
- TUBB2A p.Thr372Pro Uncertain significance Single submitter
- TUBB2A p.Trp101Arg Uncertain significance Single submitter
- TUBB2A p.Val179Met Uncertain significance Single submitter
- TUBB2A p.Val313Met Uncertain significance Single submitter
- TUBB2A p.Val49Glu Uncertain significance Single submitter
-
TUBB2A p.Tyr310His
Uncertain significance
No assertion criteria
complex cortical dysplasia with other brain malformations 5
Predictors split 16
The independent predictors disagree with each other — read with care.
- TUBB2A p.Thr136Ala Uncertain significance Multiple submitters
- TUBB2A p.Ala430Val Uncertain significance Single submitter
- TUBB2A p.Ala445Thr Uncertain significance Single submitter
- TUBB2A p.Ala55Asp Uncertain significance Single submitter
-
TUBB2A p.Asn165Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB2A p.Asn89Ser
Uncertain significance
Single submitter
complex cortical dysplasia with other brain malformations 5
- TUBB2A p.Asp26Asn Uncertain significance Single submitter
- TUBB2A p.Asp431Asn Uncertain significance Single submitter
- TUBB2A p.Asp443His Uncertain significance Single submitter
- TUBB2A p.Glu444Lys Likely benign Single submitter
- TUBB2A p.Ile163Val Uncertain significance Single submitter
-
TUBB2A p.Leu135Val
Uncertain significance
Single submitter
neurodevelopmental disorder
- TUBB2A p.Ser115Leu Conflicting Single submitter
- TUBB2A p.Ser339Gly Uncertain significance Single submitter
- TUBB2A p.Thr166Ser Likely benign Single submitter
- TUBB2A p.Val60Ile Uncertain significance Single submitter
All TUBB2A variants
Pathogenic 9
- p.Asp417Asn Multiple submitters
- p.Ala314Asp Single submitter
- p.Asn247Lys Single submitter complex cortical dysplasia with other brain malformations 5
- p.Asn256Ser Single submitter
- p.Asn99Ser Single submitter
- p.Glu205Asp Single submitter
- p.Gly96Arg Single submitter complex cortical dysplasia with other brain malformations 5
- p.Lys122Thr Single submitter
- p.Pro357Leu Single submitter
Pathogenic/Likely pathogenic 7
- p.Arg262His Multiple submitters complex cortical dysplasia with other brain malformations 5
- p.Glu194Lys Multiple submitters complex cortical dysplasia with other brain malformations 5
- p.Gly132Ser Multiple submitters complex cortical dysplasia with other brain malformations 5
- p.Gly98Arg Multiple submitters complex cortical dysplasia with other brain malformations 5
- p.Ile345Phe Multiple submitters TUBB2A-related tubulinopathy
- p.Ser230Leu Multiple submitters complex cortical dysplasia with other brain malformations 5
- p.Thr178Met Multiple submitters complex cortical dysplasia with other brain malformations 5
Likely pathogenic 20
- p.Met323Leu Multiple submitters complex cortical dysplasia with other brain malformations 5
- p.Asn414His Single submitter
- p.Asn416Ser Single submitter
- p.Gln131Ter Single submitter
- p.Gln134Leu Single submitter
- p.Glu410Lys Single submitter
- p.Gly244Ala Single submitter
- p.Gly402Arg Single submitter complex cortical dysplasia with other brain malformations 5
- p.Gly98Val Single submitter Neurodevelopmental delay
- p.Leu207Pro Single submitter complex cortical dysplasia with other brain malformations 5
- p.Met363Arg Single submitter
- p.Phe242Leu Single submitter
- p.Pro173Arg Single submitter
- p.Pro173Leu Single submitter
- p.Pro358Leu Single submitter complex cortical dysplasia with other brain malformations 5
- p.Pro358Thr Single submitter complex cortical dysplasia with other brain malformations 5
- p.Ser176Thr Single submitter TUBB2A-related disorder
- p.Thr312Arg Single submitter
- p.Tyr50His Single submitter complex cortical dysplasia with other brain malformations 5
- p.Ala393Val No assertion criteria complex cortical dysplasia with other brain malformations 5
Conflicting classifications of pathogenicity 14
- p.Ala248Val Single submitter Inborn genetic diseases ⚠
- p.Ala302Thr Single submitter ⚠
- p.Arg391Cys Single submitter Inborn genetic diseases ⚠
- p.Arg391His Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Gln291Pro Single submitter TUBB2A-related disorder ⚠
- p.Gln292Arg Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Met388Thr Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Pro243Leu Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Ser115Leu Single submitter ⚠
- p.Ser172Leu Single submitter Inborn genetic diseases ⚠
- p.Ser201Cys Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Thr285Pro Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Thr351Met Single submitter ⚠
- p.Val193Met Single submitter TUBB2A-related tubulinopathy ⚠
Benign 14
- p.Ala185Thr Multiple submitters complex cortical dysplasia with other brain malformations 5
- p.Ala63= Multiple submitters
- p.Arg121= Multiple submitters
- p.Gly441= Multiple submitters
- c.166+146T>A Single submitter
- c.277+194A>T Single submitter
- c.277+261C>T Single submitter
- c.57+199G>C Single submitter
- c.57+242T>C Single submitter
- c.57+287G>C Single submitter
- c.57+28G>A Single submitter
- c.58-144G>A Single submitter
- p.Glu444Val Single submitter
- p.Thr143= Single submitter
Benign/Likely benign 8
- c.167-19C>T Multiple submitters complex cortical dysplasia with other brain malformations 5
- p.Asp118= Multiple submitters
- p.Asp203= Multiple submitters
- p.Gly98= Multiple submitters
- p.Phe260= Multiple submitters
- p.Pro32= Multiple submitters
- p.Ser168= Multiple submitters
- p.Ser188= Multiple submitters complex cortical dysplasia with other brain malformations 5
Likely benign 151
- c.167-5T>C Multiple submitters
- c.278-10C>T Multiple submitters
- c.58-65G>A Multiple submitters
- p.Ala411= Multiple submitters
- p.Ala97= Multiple submitters
- p.Asn184= Multiple submitters
- p.Gly319= Multiple submitters
- p.Phe294= Multiple submitters
- p.Phe90= Multiple submitters
- p.Pro357= Multiple submitters
- p.Ser145= Multiple submitters
- p.Ser95= Multiple submitters
- p.Thr399= Multiple submitters
- p.Thr72= Multiple submitters
- p.Val169= Multiple submitters
- c.166+13A>G Single submitter
- c.166+17G>A Single submitter
- c.166+20T>C Single submitter
- c.166+9C>T Single submitter
- c.167-10T>C Single submitter
- c.167-11A>T Single submitter
- c.167-17G>A Single submitter
- c.167-7C>G Single submitter
- c.277+11A>G Single submitter
- c.277+12T>A Single submitter
- c.277+17A>G Single submitter
- c.277+227A>G Single submitter
- c.277+8G>T Single submitter
- c.278-11C>T Single submitter
- c.278-14T>C Single submitter
- c.278-19T>C Single submitter
- c.278-6T>C Single submitter
- c.278-7C>G Single submitter
- c.57+11C>G Single submitter
- c.57+11C>T Single submitter
- c.57+18G>A Single submitter
- c.57+67G>A Single submitter
- c.57+6C>T Single submitter
- c.57+8C>T Single submitter
- p.Ala110= Single submitter
- p.Ala18= Single submitter
- p.Ala254= Single submitter
- p.Ala271= Single submitter
- p.Ala283= Single submitter
- p.Ala301= Single submitter
- p.Ala302= Single submitter
- p.Ala314= Single submitter
- p.Ala365= Single submitter
- p.Ala430= Single submitter
- p.Arg241= Single submitter
- p.Arg251= Single submitter
- p.Arg262= Single submitter
- p.Arg380= Single submitter
- p.Arg86= Single submitter
- p.Asn332= Single submitter
- p.Asp128= Single submitter
- p.Asp295= Single submitter
- p.Asp327= Single submitter
- p.Asp355Tyr Single submitter
- p.Asp404= Single submitter
- p.Asp431= Single submitter
- p.Asp74= Single submitter
- p.Cys239= Single submitter
- p.Cys354= Single submitter
- p.Gln134= Single submitter
- p.Gln245= Single submitter
- p.Gln334= Single submitter
- p.Gln334His Single submitter
- p.Glu325= Single submitter
- p.Glu328= Single submitter
- p.Glu376= Single submitter
- p.Glu432Lys Single submitter
- p.Glu438= Single submitter
- p.Glu439= Single submitter
- p.Glu444= Single submitter
- p.Glu444Lys Single submitter ⚠
- p.Gly141= Single submitter
- p.Gly142= Single submitter
- p.Gly17= Single submitter
- p.Gly269= Single submitter
- p.Gly369= Single submitter
- p.Gly400= Single submitter
- p.His264= Single submitter
- p.His307= Single submitter
- p.Ile16= Single submitter
- p.Ile316= Single submitter
- p.Ile374Ser Single submitter
- p.Ile47= Single submitter
- p.Leu139= Single submitter
- p.Leu150= Single submitter
- p.Leu187= Single submitter
- p.Leu207= Single submitter
- p.Leu217= Single submitter
- p.Leu228= Single submitter
- p.Leu250= Single submitter
- p.Leu273= Single submitter
- p.Leu284= Single submitter
- p.Leu289= Single submitter
- p.Leu361= Single submitter
- p.Leu377= Single submitter
- p.Lys122= Single submitter
- p.Lys379= Single submitter
- p.Lys58= Single submitter
- p.Phe242= Single submitter
- p.Phe270= Single submitter
- p.Phe378= Single submitter
- p.Phe378Ile Single submitter
- p.Phe385= Single submitter
- p.Phe436= Single submitter
- p.Phe81= Single submitter
- p.Phe92= Single submitter
- p.Pro160= Single submitter
- p.Pro171= Single submitter
- p.Pro243= Single submitter
- p.Pro259= Single submitter
- p.Pro268= Single submitter
- p.Pro287= Single submitter
- p.Ser115= Single submitter
- p.Ser126= Single submitter
- p.Ser126Asn Single submitter
- p.Ser176= Single submitter
- p.Ser201= Single submitter
- p.Ser230= Single submitter
- p.Ser278= Single submitter
- p.Ser364= Single submitter
- p.Ser40= Single submitter
- p.Ser413= Single submitter
- p.Ser420= Single submitter
- p.Ser78= Single submitter
- p.Thr107= Single submitter
- p.Thr166Ser Single submitter ⚠
- p.Thr178= Single submitter
- p.Thr214= Single submitter
- p.Thr221= Single submitter
- p.Thr312= Single submitter
- p.Thr351= Single submitter
- p.Thr372= Single submitter
- p.Thr386= Single submitter
- p.Thr409= Single submitter
- p.Thr429= Single submitter
- p.Tyr281= Single submitter
- p.Val120= Single submitter
- p.Val179= Single submitter
- p.Val236= Single submitter
- p.Val255= Single submitter
- p.Val313= Single submitter
- p.Val333= Single submitter
- p.Val342= Single submitter
- p.Val76= Single submitter
- c.278-31T>C No assertion criteria TUBB2A-related disorder
- p.Tyr50= No assertion criteria TUBB2A-related disorder
Uncertain significance 125
- p.Arg156Gln Multiple submitters ⚠
- p.Arg276Gln Multiple submitters ⚠
- p.Arg276Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly360Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu418Val Multiple submitters ⚠
- p.Met257Leu Multiple submitters
- p.Thr136Ala Multiple submitters ⚠
- p.Thr312Met Multiple submitters complex cortical dysplasia with other brain malformations 5 ⚠
- p.Val60Leu Multiple submitters ⚠
- p.Ala110Val Single submitter ⚠
- p.Ala352Ser Single submitter
- p.Ala352Thr Single submitter ⚠
- p.Ala430Val Single submitter ⚠
- p.Ala445delinsAspGluSer Single submitter
- p.Ala445Pro Single submitter ⚠
- p.Ala445Thr Single submitter ⚠
- p.Ala445Val Single submitter ⚠
- p.Ala54Asp Single submitter ⚠
- p.Ala55Asp Single submitter ⚠
- p.Ala55Thr Single submitter Inborn genetic diseases ⚠
- p.Arg162His Single submitter ⚠
- p.Arg213His Single submitter ⚠
- p.Arg241Cys Single submitter ⚠
- p.Arg251Cys Single submitter Inborn genetic diseases ⚠
- p.Arg251Ser Single submitter ⚠
- p.Arg262Cys Single submitter ⚠
- p.Arg320His Single submitter
- p.Arg359His Single submitter Inborn genetic diseases
- p.Arg380Cys Single submitter ⚠
- p.Arg62Trp Single submitter ⚠
- p.Arg77Lys Single submitter
- p.Arg86Gly Single submitter ⚠
- p.Asn165Lys Single submitter Inborn genetic diseases ⚠
- p.Asn348Asp Single submitter ⚠
- p.Asn348Ser Single submitter ⚠
- p.Asn370His Single submitter ⚠
- p.Asn414Ser Single submitter ⚠
- p.Asn89Ser Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Asp197Ala Single submitter TUBB2A-related disorder ⚠
- p.Asp203Glu Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Asp224fs Single submitter
- p.Asp26Asn Single submitter ⚠
- p.Asp295Asn Single submitter ⚠
- p.Asp327Tyr Single submitter ⚠
- p.Asp355Gly Single submitter ⚠
- p.Asp417fs Single submitter
- p.Asp431Asn Single submitter ⚠
- p.Asp443Glu Single submitter ⚠
- p.Asp443Gly Single submitter ⚠
- p.Asp443His Single submitter ⚠
- p.Asp74Tyr Single submitter ⚠
- p.Gln15Arg Single submitter ⚠
- p.Gln292del Single submitter
- p.Gln329fs Single submitter
- p.Gln426Ter Single submitter
- p.Gln94His Single submitter ⚠
- p.Glu108Val Single submitter Inborn genetic diseases ⚠
- p.Glu125Ter Single submitter
- p.Glu181Val Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu325Val Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Glu401Ter Single submitter Developmental disorder
- p.Glu405Asp Single submitter ⚠
- p.Glu407Ter Single submitter
- p.Glu432Gln Single submitter
- p.Glu440del Single submitter
- p.Glu442Ter Single submitter
- p.Glu444Asp Single submitter ⚠
- p.Gly132Asp Single submitter ⚠
- p.Gly235Arg Single submitter ⚠
- p.Gly269Asp Single submitter ⚠
- p.Gly34Asp Single submitter ⚠
- p.Gly82Ser Single submitter ⚠
- p.Gly93Ser Single submitter ⚠
- p.His137fs Single submitter
- p.Ile163Val Single submitter ⚠
- p.Ile316Thr Single submitter ⚠
- p.Leu135Val Single submitter neurodevelopmental disorder ⚠
- p.Leu225Phe Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Leu250Pro Single submitter ⚠
- p.Lys174Glu Single submitter ⚠
- p.Lys324Glu Single submitter ⚠
- p.Lys336Asn Single submitter ⚠
- p.Met170Ile Single submitter Inborn genetic diseases ⚠
- p.Met233Ile Single submitter ⚠
- p.Met300Ile Single submitter ⚠
- p.Met363Thr Single submitter ⚠
- p.Phe167Cys Single submitter ⚠
- p.Phe266Leu Single submitter ⚠
- p.Phe270Leu Single submitter ⚠
- p.Phe270Ser Single submitter ⚠
- p.Phe367Leu Single submitter complex cortical dysplasia with other brain malformations 5 ⚠
- p.Phe385Leu Single submitter ⚠
- p.Phe436Val Single submitter ⚠
- p.Phe85Tyr Single submitter ⚠
- p.Phe90Leu Single submitter ⚠
- p.Pro243Arg Single submitter ⚠
- p.Pro358Ser Single submitter ⚠
- p.Pro70Ser Single submitter ⚠
- p.Ser138Cys Single submitter ⚠
- p.Ser176Leu Single submitter ⚠
- p.Ser188Leu Single submitter
- p.Ser278Arg Single submitter ⚠
- p.Ser339Gly Single submitter ⚠
- p.Ser371Gly Single submitter ⚠
- p.Ser78Cys Single submitter
- p.Thr143Met Single submitter Inborn genetic diseases ⚠
- p.Thr149Ile Single submitter Inborn genetic diseases ⚠
- p.Thr214_Leu215insTer Single submitter
- p.Thr214Ile Single submitter ⚠
- p.Thr218Ile Single submitter ⚠
- p.Thr238fs Single submitter
- p.Thr312_Val313insAla Single submitter
- p.Thr372Pro Single submitter ⚠
- p.Trp101Arg Single submitter ⚠
- p.Tyr222Ter Single submitter
- p.Val179Met Single submitter ⚠
- p.Val189fs Single submitter
- p.Val313Met Single submitter ⚠
- p.Val49Glu Single submitter ⚠
- p.Val60Ile Single submitter ⚠
- c.278-7C>T No assertion criteria complex cortical dysplasia with other brain malformations 5
- p.Glu437Lys No assertion criteria vascular dementia
- p.Tyr310His No assertion criteria complex cortical dysplasia with other brain malformations 5 ⚠