TUBB4A — 348 ClinVar variants
All ClinVar germline TUBB4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →
5 Pathogenic · 14 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 17 Conflicting · 20 Benign · 10 Benign/Likely benign · 115 Likely benign · 143 Uncertain significance
Full TUBB4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 116
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TUBB4A p.Arg156Cys
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Arg391Leu
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Gly98Asp
Conflicting
Single submitter
Inborn genetic diseases
-
TUBB4A p.Leu225Phe
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Leu246Val
Conflicting
Single submitter
Inborn genetic diseases
-
TUBB4A p.Met363Thr
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Met388Thr
Conflicting
Single submitter
TUBB4A-related disorder
- TUBB4A p.Val175Met Conflicting Single submitter
-
TUBB4A p.Val180Ala
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Val180Met
Conflicting
Single submitter
torsion dystonia 4
Predictors lean, ClinVar uncertain 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TUBB4A p.Arg241Cys
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Arg241His Uncertain significance Multiple submitters
-
TUBB4A p.Arg309Cys
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Arg318Gln
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Arg77His
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Phe90Leu
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Pro305Leu
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Thr186Met
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Val193Met
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Val333Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUBB4A p.Ala315Thr
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Ala373Ser
Uncertain significance
Single submitter
intellectual disability
- TUBB4A p.Ala387Asp Uncertain significance Single submitter
-
TUBB4A p.Ala430Asp
Uncertain significance
Single submitter
torsion dystonia 4
-
TUBB4A p.Ala439Glu
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Ala439Val
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Ala444Val
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Ala63Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB4A p.Ala97Thr Uncertain significance Single submitter
-
TUBB4A p.Arg121Gln
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Arg121Trp
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Arg156His Uncertain significance Single submitter
- TUBB4A p.Arg162Cys Uncertain significance Single submitter
-
TUBB4A p.Arg162Leu
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Arg213His
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Arg241Pro
Uncertain significance
Single submitter
torsion dystonia 4
- TUBB4A p.Arg251His Uncertain significance Single submitter
-
TUBB4A p.Arg309Ser
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Arg320Cys
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Arg380Leu Uncertain significance Single submitter
- TUBB4A p.Arg86Trp Uncertain significance Single submitter
-
TUBB4A p.Asn247Ile
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Asn247Lys Uncertain significance Single submitter
- TUBB4A p.Asp203Asn Uncertain significance Single submitter
- TUBB4A p.Asp203His Uncertain significance Single submitter
-
TUBB4A p.Asp295Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB4A p.Asp295Asn
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Asp295His
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Asp39Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB4A p.Asp404Val
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Asp417Glu Uncertain significance Single submitter
-
TUBB4A p.Cys12Trp
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Cys211Ser Uncertain significance Single submitter
-
TUBB4A p.Cys354Ser
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Gln245His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB4A p.Glu125Asp
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Glu125Gln
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Glu27Gln Uncertain significance Single submitter
-
TUBB4A p.Glu288Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB4A p.Glu328Lys
Uncertain significance
Single submitter
torsion dystonia 4
-
TUBB4A p.Glu405Lys
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Glu410Gly Uncertain significance Single submitter
-
TUBB4A p.Glu431Lys
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Glu441Asp Uncertain significance Single submitter
-
TUBB4A p.Glu53Lys
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Gly141Asp Uncertain significance Single submitter
-
TUBB4A p.Gly146Arg
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Gly146Glu Uncertain significance Single submitter
-
TUBB4A p.Gly235Arg
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Gly360Arg
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Gly360Ser
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Gly400Ser
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Gly98Arg Uncertain significance Single submitter
- TUBB4A p.Gly98Ser Uncertain significance Single submitter
-
TUBB4A p.Ile155Thr
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Leu151Phe
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Lys154Glu Uncertain significance Single submitter
-
TUBB4A p.Met257Val
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Met267Thr
Uncertain significance
Single submitter
Brown syndrome
- TUBB4A p.Met299Leu Uncertain significance Single submitter
- TUBB4A p.Met300Ile Uncertain significance Single submitter
-
TUBB4A p.Met323Arg
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Phe167Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB4A p.Phe385Leu
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Pro171Thr Uncertain significance Single submitter
- TUBB4A p.Pro87Gln Uncertain significance Single submitter
- TUBB4A p.Pro87Leu Uncertain significance Single submitter
- TUBB4A p.Ser278Arg Uncertain significance Single submitter
- TUBB4A p.Thr351Arg Uncertain significance Single submitter
- TUBB4A p.Thr366Ile Uncertain significance Single submitter
-
TUBB4A p.Thr399Met
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Trp344Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB4A p.Tyr200His Uncertain significance Single submitter
-
TUBB4A p.Tyr222Asp
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Tyr281Cys
Uncertain significance
Single submitter
intellectual disability
-
TUBB4A p.Val179Met
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Val229Leu
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Val342Met
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Val349Met
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Val91Met
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
Predictors split 16
The independent predictors disagree with each other — read with care.
-
TUBB4A p.Ala115Thr
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Ala271Thr
Uncertain significance
Single submitter
torsion dystonia 4
-
TUBB4A p.Ala352Thr
Conflicting
Single submitter
TUBB4A-related disorder
- TUBB4A p.Ala352Val Uncertain significance Single submitter
-
TUBB4A p.Ala365Thr
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Asp41Gly Uncertain significance Single submitter
- TUBB4A p.Glu440Lys Uncertain significance Single submitter
- TUBB4A p.Ile163Val Uncertain significance Single submitter
-
TUBB4A p.Leu117Val
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
- TUBB4A p.Lys154Arg Uncertain significance Single submitter
-
TUBB4A p.Phe394Ser
Likely pathogenic
Single submitter
torsion dystonia 4
- TUBB4A p.Pro80Leu Likely benign Single submitter
-
TUBB4A p.Pro80Ser
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
-
TUBB4A p.Ser339Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB4A p.Thr429Met Uncertain significance Single submitter
-
TUBB4A p.Val23Ile
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 6
All TUBB4A variants
Pathogenic 5
- p.Arg2Trp Single submitter leukodystrophy, hypomyelinating, 6
- p.Lys252Arg Single submitter leukodystrophy, hypomyelinating, 6
- p.Val179Leu Single submitter
- c.900C>A No assertion criteria leukodystrophy, hypomyelinating, 6
- p.Gly244Val No assertion criteria leukodystrophy, hypomyelinating, 6
Pathogenic/Likely pathogenic 14
- p.Ala314Val Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Arg156Leu Multiple submitters Inborn genetic diseases
- p.Arg262His Multiple submitters TUBB4A-related disorder
- p.Arg391His Multiple submitters TUBB4A-related disorder
- p.Asp249Asn Multiple submitters torsion dystonia 4
- p.Glu410Lys Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Gly244Arg Multiple submitters TUBB4A-related disorder
- p.Gly244Ser Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Gly96Arg Multiple submitters leukodystrophy, hypomyelinating, 6
- p.His190Tyr Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Leu246Pro Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Met388Ile Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Thr178Met Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Val255Ile Multiple submitters Inborn genetic diseases
Likely pathogenic 24
- p.Cys354Trp Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Met388Val Multiple submitters TUBB4A-related disorder
- p.Phe266Ile Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ala352Ser Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala393Val Single submitter
- p.Asn165Asp Single submitter leukodystrophy, hypomyelinating, 6
- p.Asn414Tyr Single submitter Inborn genetic diseases
- p.Asp355Glu Single submitter leukodystrophy, hypomyelinating, 6
- p.Gln292Lys Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly71Ser Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly96Val Single submitter leukodystrophy, hypomyelinating, 6
- p.Leu246Met Single submitter leukodystrophy, hypomyelinating, 6
- p.Lys350Thr Single submitter
- p.Phe341Leu Single submitter leukodystrophy, hypomyelinating, 6
- p.Phe367Leu Single submitter leukodystrophy, hypomyelinating, 6
- p.Phe394Ser Single submitter torsion dystonia 4 ⚠
- p.Pro182Ser Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro358Leu Single submitter TUBB4A-related disorder
- p.Thr178Arg Single submitter leukodystrophy, hypomyelinating, 6
- p.Thr285Lys Single submitter torsion dystonia 4
- p.Thr351Met Single submitter leukodystrophy, hypomyelinating, 6
- p.Val229Ala Single submitter leukodystrophy, hypomyelinating, 6
- p.Val313Leu Single submitter leukodystrophy, hypomyelinating, 6
- p.Met300Val No assertion criteria hereditary spastic paraplegia
Conflicting classifications of pathogenicity 17
- c.278-15_278-6del Single submitter leukodystrophy, hypomyelinating, 6
- c.278-6C>T Single submitter
- p.Ala352Thr Single submitter TUBB4A-related disorder ⚠
- p.Arg156Cys Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg391Leu Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Gly109= Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly98Asp Single submitter Inborn genetic diseases ⚠
- p.Leu225Phe Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Leu246Val Single submitter Inborn genetic diseases ⚠
- p.Met363Thr Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Met388Thr Single submitter TUBB4A-related disorder ⚠
- p.Pro305= Single submitter leukodystrophy, hypomyelinating, 6
- p.Tyr222= Single submitter leukodystrophy, hypomyelinating, 6
- p.Val175Met Single submitter ⚠
- p.Val180Ala Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Val180Met Single submitter torsion dystonia 4 ⚠
- p.Val443= Single submitter leukodystrophy, hypomyelinating, 6
Benign 20
- c.278-204G>A Multiple submitters
- c.33+88C>T Multiple submitters
- c.*111G>C Multiple submitters torsion dystonia 4
- c.*260G>C Multiple submitters torsion dystonia 4
- c.*3T>C Multiple submitters leukodystrophy, hypomyelinating, 6
- c.*400G>A Multiple submitters leukodystrophy, hypomyelinating, 6
- c.*673A>G Multiple submitters leukodystrophy, hypomyelinating, 6
- c.*725G>A Multiple submitters torsion dystonia 4
- c.*804C>G Multiple submitters torsion dystonia 4
- c.*96C>G Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Asp114= Multiple submitters leukodystrophy, hypomyelinating, 6
- c.277+538_277+541dup Single submitter
- c.57+169G>A Single submitter
- c.*100G>A Single submitter torsion dystonia 4
- c.*36C>G Single submitter torsion dystonia 4
- c.*429C>T Single submitter leukodystrophy, hypomyelinating, 6
- c.*493C>G Single submitter torsion dystonia 4
- c.*633C>A Single submitter torsion dystonia 4
- c.*69C>G Single submitter torsion dystonia 4
- c.*700T>A Single submitter torsion dystonia 4
Benign/Likely benign 10
- p.Ala254= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ala365= Multiple submitters torsion dystonia 4
- p.Asn195= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Asn348= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Gly433= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.His307= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Pro70= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ser145= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Tyr208= Multiple submitters torsion dystonia 4
- p.Val170= Multiple submitters leukodystrophy, hypomyelinating, 6
Likely benign 115
- c.166+52A>C Multiple submitters
- c.167-21C>T Multiple submitters
- c.277+114C>G Multiple submitters
- c.278-119A>G Multiple submitters
- p.Ala314= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ala315= Multiple submitters
- p.Ala364= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ala430= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ala439= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ala97= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Arg359= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Asn247= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Asn48= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Asn52= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Asp427= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Glu437= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Gly38= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.His227= Multiple submitters
- p.Leu68= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Phe270= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Phe435= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Phe81= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Pro272= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ser138= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ser168= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ser172= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ser230= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ser332= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Thr143= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Thr186= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Thr351= Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Thr366= Multiple submitters
- p.Thr386= Multiple submitters
- p.Thr399= Multiple submitters leukodystrophy, hypomyelinating, 6
- c.166+7C>T Single submitter leukodystrophy, hypomyelinating, 6
- c.166+8G>A Single submitter leukodystrophy, hypomyelinating, 6
- c.166+9A>G Single submitter leukodystrophy, hypomyelinating, 6
- c.167-16_167-13del Single submitter leukodystrophy, hypomyelinating, 6
- c.277+12A>G Single submitter leukodystrophy, hypomyelinating, 6
- c.277+18G>A Single submitter leukodystrophy, hypomyelinating, 6
- c.277+28C>T Single submitter
- c.278-14C>T Single submitter leukodystrophy, hypomyelinating, 6
- c.57+11A>G Single submitter leukodystrophy, hypomyelinating, 6
- c.58-12CT[4] Single submitter leukodystrophy, hypomyelinating, 6
- c.58-174C>T Single submitter
- c.-15T>A Single submitter
- c.-66G>C Single submitter
- c.*53G>A Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala206= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala283Val Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala301= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala302= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala352= Single submitter
- p.Ala54= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala63= Single submitter leukodystrophy, hypomyelinating, 6
- p.Arg156= Single submitter leukodystrophy, hypomyelinating, 6
- p.Arg213= Single submitter leukodystrophy, hypomyelinating, 6
- p.Arg318= Single submitter leukodystrophy, hypomyelinating, 6
- p.Asn184= Single submitter leukodystrophy, hypomyelinating, 6
- p.Asn204= Single submitter
- p.Asp118= Single submitter leukodystrophy, hypomyelinating, 6
- p.Asp304= Single submitter leukodystrophy, hypomyelinating, 6
- p.Asp327= Single submitter leukodystrophy, hypomyelinating, 6
- p.Cys127= Single submitter leukodystrophy, hypomyelinating, 6
- p.Cys129= Single submitter leukodystrophy, hypomyelinating, 6
- p.Cys303= Single submitter leukodystrophy, hypomyelinating, 6
- p.Gln375= Single submitter leukodystrophy, hypomyelinating, 6
- p.Gln426= Single submitter
- p.Glu123= Single submitter leukodystrophy, hypomyelinating, 6
- p.Glu343= Single submitter leukodystrophy, hypomyelinating, 6
- p.Glu436= Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly104= Single submitter
- p.Gly223Arg Single submitter
- p.Gly269Ser Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly360= Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly400= Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly402= Single submitter leukodystrophy, hypomyelinating, 6
- p.His137= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ile202= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ile368= Single submitter leukodystrophy, hypomyelinating, 6
- p.Leu112= Single submitter leukodystrophy, hypomyelinating, 6
- p.Leu117= Single submitter
- p.Leu139= Single submitter leukodystrophy, hypomyelinating, 6
- p.Leu150= Single submitter leukodystrophy, hypomyelinating, 6
- p.Leu192= Single submitter
- p.Leu207= Single submitter leukodystrophy, hypomyelinating, 6
- p.Leu284= Single submitter leukodystrophy, hypomyelinating, 6
- p.Leu361= Single submitter leukodystrophy, hypomyelinating, 6
- p.Leu377= Single submitter leukodystrophy, hypomyelinating, 6
- p.Phe294= Single submitter leukodystrophy, hypomyelinating, 6
- p.Phe92= Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro160= Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro182= Single submitter
- p.Pro243= Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro268= Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro287= Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro346= Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro357= Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro358= Single submitter leukodystrophy, hypomyelinating, 6
- p.Pro80Leu Single submitter ⚠
- p.Pro87= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ser382= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ser40= Single submitter leukodystrophy, hypomyelinating, 6
- p.Ser78= Single submitter leukodystrophy, hypomyelinating, 6
- p.Thr107= Single submitter leukodystrophy, hypomyelinating, 6
- p.Thr196= Single submitter
- p.Thr199= Single submitter leukodystrophy, hypomyelinating, 6
- p.Thr238= Single submitter leukodystrophy, hypomyelinating, 6
- p.Thr285= Single submitter leukodystrophy, hypomyelinating, 6
- p.Thr312= Single submitter leukodystrophy, hypomyelinating, 6
- p.Thr429= Single submitter
- p.Tyr310= Single submitter leukodystrophy, hypomyelinating, 6
- p.Tyr422= Single submitter
- p.Val258= Single submitter leukodystrophy, hypomyelinating, 6
- c.166+7C>A No assertion criteria TUBB4A-related disorder
Uncertain significance 143
- c.*627A>C Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ala115Thr Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Ala301Val Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Ala352del Multiple submitters
- p.Arg241Cys Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg241His Multiple submitters ⚠
- p.Arg309Cys Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg318Gln Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg77His Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Ile155fs Multiple submitters leukodystrophy, hypomyelinating, 6
- p.Phe90Leu Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Pro305Leu Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Thr186Met Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Val193Met Multiple submitters leukodystrophy, hypomyelinating, 6 ⚠
- p.Val333Ala Multiple submitters Inborn genetic diseases ⚠
- c.167-12G>C Single submitter leukodystrophy, hypomyelinating, 6
- c.167-1G>A Single submitter leukodystrophy, hypomyelinating, 6
- c.57+4C>T Single submitter leukodystrophy, hypomyelinating, 6
- c.-472A>G Single submitter
- c.-500A>C Single submitter
- c.-53G>T Single submitter
- c.-75G>C Single submitter
- c.-75T>A Single submitter
- c.*304C>T Single submitter leukodystrophy, hypomyelinating, 6
- c.*440C>T Single submitter leukodystrophy, hypomyelinating, 6
- c.*579C>T Single submitter leukodystrophy, hypomyelinating, 6
- c.*792C>T Single submitter torsion dystonia 4
- c.*800G>A Single submitter leukodystrophy, hypomyelinating, 6
- c.*86G>A Single submitter torsion dystonia 4
- p.Ala271Thr Single submitter torsion dystonia 4 ⚠
- p.Ala315Thr Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Ala352Val Single submitter ⚠
- p.Ala365Thr Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Ala373Ser Single submitter intellectual disability ⚠
- p.Ala387Asp Single submitter ⚠
- p.Ala430Asp Single submitter torsion dystonia 4 ⚠
- p.Ala439_Glu442del Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala439Glu Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Ala439Val Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Ala444Val Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Ala5fs Single submitter leukodystrophy, hypomyelinating, 6
- p.Ala63Val Single submitter Inborn genetic diseases ⚠
- p.Ala97Thr Single submitter ⚠
- p.Arg121Gln Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg121Trp Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg156His Single submitter ⚠
- p.Arg162Cys Single submitter ⚠
- p.Arg162Leu Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg213His Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg241Pro Single submitter torsion dystonia 4 ⚠
- p.Arg251His Single submitter ⚠
- p.Arg282Gln Single submitter Inborn genetic diseases
- p.Arg309Ser Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg320Cys Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Arg380Leu Single submitter ⚠
- p.Arg86_Pro87insArg Single submitter leukodystrophy, hypomyelinating, 6
- p.Arg86Trp Single submitter ⚠
- p.Asn247Ile Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Asn247Lys Single submitter ⚠
- p.Asp203Asn Single submitter ⚠
- p.Asp203His Single submitter ⚠
- p.Asp295Ala Single submitter Inborn genetic diseases ⚠
- p.Asp295Asn Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Asp295His Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Asp39Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp404Val Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Asp417Glu Single submitter ⚠
- p.Asp41Gly Single submitter ⚠
- p.Cys12Trp Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Cys211Ser Single submitter ⚠
- p.Cys354Ser Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Gln191Ter Single submitter classic medulloblastoma
- p.Gln245His Single submitter Inborn genetic diseases ⚠
- p.Gln426Glu Single submitter
- p.Glu125Ala Single submitter
- p.Glu125Asp Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Glu125Gln Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Glu27Gln Single submitter ⚠
- p.Glu288Gln Single submitter Inborn genetic diseases ⚠
- p.Glu328Lys Single submitter torsion dystonia 4 ⚠
- p.Glu405Lys Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Glu410Gly Single submitter ⚠
- p.Glu431Lys Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Glu440Lys Single submitter ⚠
- p.Glu441Asp Single submitter ⚠
- p.Glu442del Single submitter
- p.Glu53Lys Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Gly141Asp Single submitter ⚠
- p.Gly146Arg Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Gly146Glu Single submitter ⚠
- p.Gly235Arg Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Gly34= Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly360Arg Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Gly360Ser Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Gly400Ser Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Gly4Arg Single submitter leukodystrophy, hypomyelinating, 6
- p.Gly98Arg Single submitter ⚠
- p.Gly98Ser Single submitter ⚠
- p.Ile155Thr Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Ile163Val Single submitter ⚠
- p.Ile210= Single submitter torsion dystonia 4
- p.Leu117Val Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Leu151Phe Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Lys154Arg Single submitter ⚠
- p.Lys154Glu Single submitter ⚠
- p.Met257Leu Single submitter leukodystrophy, hypomyelinating, 6
- p.Met257Val Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Met267Thr Single submitter Brown syndrome ⚠
- p.Met299Leu Single submitter ⚠
- p.Met300Ile Single submitter ⚠
- p.Met323Arg Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Met406Leu Single submitter leukodystrophy, hypomyelinating, 6
- p.Phe159Asn Single submitter leukodystrophy, hypomyelinating, 6
- p.Phe167Leu Single submitter Inborn genetic diseases ⚠
- p.Phe385Leu Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Pro171Thr Single submitter ⚠
- p.Pro259= Single submitter
- p.Pro80Ser Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Pro87Gln Single submitter ⚠
- p.Pro87Leu Single submitter ⚠
- p.Ser172_Pro182del Single submitter TUBB4A-related disorder
- p.Ser234fs Single submitter frontotemporal dementia
- p.Ser278Arg Single submitter ⚠
- p.Ser339Thr Single submitter Inborn genetic diseases ⚠
- p.Thr136Ser Single submitter
- p.Thr149= Single submitter
- p.Thr351Arg Single submitter ⚠
- p.Thr366Ile Single submitter ⚠
- p.Thr399Met Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Thr429Met Single submitter ⚠
- p.Trp344Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr200His Single submitter ⚠
- p.Tyr222Asp Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Tyr281Cys Single submitter intellectual disability ⚠
- p.Val113Ala Single submitter
- p.Val179= Single submitter
- p.Val179Met Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Val189fs Single submitter
- p.Val229Leu Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Val23Ile Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Val342Met Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Val349Met Single submitter leukodystrophy, hypomyelinating, 6 ⚠
- p.Val91Met Single submitter leukodystrophy, hypomyelinating, 6 ⚠