TUBA8 — 368 ClinVar variants
All ClinVar germline TUBA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →
1 Pathogenic · 5 Conflicting · 17 Benign · 6 Benign/Likely benign · 128 Likely benign · 211 Uncertain significance
Full TUBA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 183
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TUBA8 p.Arg320Trp
Conflicting
Single submitter
polymicrogyria with optic nerve hypoplasia
- TUBA8 p.Gln301Arg Conflicting Single submitter
- TUBA8 p.Glu445Val Conflicting Single submitter
-
TUBA8 p.Val323Met
Conflicting
Single submitter
macrothrombocytopenia, isolated, 2, autosomal dominant
Predictors lean, ClinVar uncertain 152
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 152
- TUBA8 p.Ala383Val Uncertain significance Multiple submitters
- TUBA8 p.Ala385Glu Uncertain significance Multiple submitters
- TUBA8 p.Arg121Cys Uncertain significance Multiple submitters
- TUBA8 p.Arg156Ser Uncertain significance Multiple submitters
- TUBA8 p.Arg229Cys Uncertain significance Multiple submitters
- TUBA8 p.Arg229His Uncertain significance Multiple submitters
-
TUBA8 p.Arg243Cys
Uncertain significance
Multiple submitters
polymicrogyria with optic nerve hypoplasia
-
TUBA8 p.Arg243His
Uncertain significance
Multiple submitters
polymicrogyria with optic nerve hypoplasia
- TUBA8 p.Arg264His Uncertain significance Multiple submitters
-
TUBA8 p.Arg2Gln
Uncertain significance
Multiple submitters
polymicrogyria with optic nerve hypoplasia
- TUBA8 p.Arg2Trp Uncertain significance Multiple submitters
- TUBA8 p.Arg320Gln Uncertain significance Multiple submitters
-
TUBA8 p.Arg373Trp
Uncertain significance
Multiple submitters
polymicrogyria with optic nerve hypoplasia
- TUBA8 p.Arg390Cys Uncertain significance Multiple submitters
- TUBA8 p.Arg402Gln Uncertain significance Multiple submitters
- TUBA8 p.Arg402Trp Uncertain significance Multiple submitters
- TUBA8 p.Arg64Trp Uncertain significance Multiple submitters
- TUBA8 p.Asn44Lys Uncertain significance Multiple submitters
- TUBA8 p.Asp116Tyr Uncertain significance Multiple submitters
- TUBA8 p.Asp98Asn Uncertain significance Multiple submitters
- TUBA8 p.Glu284Lys Uncertain significance Multiple submitters
- TUBA8 p.Glu417Ala Uncertain significance Multiple submitters
- TUBA8 p.Glu442Lys Uncertain significance Multiple submitters
- TUBA8 p.Glu447Gly Uncertain significance Multiple submitters
- TUBA8 p.Gly143Trp Uncertain significance Multiple submitters
- TUBA8 p.Gly365Arg Uncertain significance Multiple submitters
- TUBA8 p.Ile43Thr Uncertain significance Multiple submitters
- TUBA8 p.Lys394Arg Uncertain significance Multiple submitters
- TUBA8 p.Pro268Leu Uncertain significance Multiple submitters
- TUBA8 p.Pro360Leu Uncertain significance Multiple submitters
- TUBA8 p.Ser439Leu Uncertain significance Multiple submitters
- TUBA8 p.Thr109Met Uncertain significance Multiple submitters
- TUBA8 p.Thr56Ser Uncertain significance Multiple submitters
- TUBA8 p.Tyr108Cys Uncertain significance Multiple submitters
- TUBA8 p.Tyr185Cys Uncertain significance Multiple submitters
- TUBA8 p.Ala100Thr Uncertain significance Single submitter
- TUBA8 p.Ala12Thr Uncertain significance Single submitter
- TUBA8 p.Ala19Ser Uncertain significance Single submitter
- TUBA8 p.Ala19Val Uncertain significance Single submitter
- TUBA8 p.Ala273Glu Uncertain significance Single submitter
- TUBA8 p.Ala273Val Uncertain significance Single submitter
- TUBA8 p.Ala331Thr Uncertain significance Single submitter
- TUBA8 p.Ala333Thr Uncertain significance Single submitter
- TUBA8 p.Ala387Thr Uncertain significance Single submitter
- TUBA8 p.Ala389Val Uncertain significance Single submitter
- TUBA8 p.Ala427Ser Uncertain significance Single submitter
- TUBA8 p.Arg105Gln Uncertain significance Single submitter
- TUBA8 p.Arg123Trp Uncertain significance Single submitter
- TUBA8 p.Arg229Gly Uncertain significance Single submitter
- TUBA8 p.Arg264Cys Uncertain significance Single submitter
- TUBA8 p.Arg320Leu Uncertain significance Single submitter
- TUBA8 p.Arg373Gln Uncertain significance Single submitter
- TUBA8 p.Arg390His Uncertain significance Single submitter
- TUBA8 p.Arg64Gln Uncertain significance Single submitter
- TUBA8 p.Arg79Leu Uncertain significance Single submitter
- TUBA8 p.Arg79Trp Uncertain significance Single submitter
- TUBA8 p.Asn356Lys Uncertain significance Single submitter
- TUBA8 p.Asp116Val Uncertain significance Single submitter
- TUBA8 p.Asp127Gly Uncertain significance Single submitter
- TUBA8 p.Asp205Glu Uncertain significance Single submitter
- TUBA8 p.Asp245Val Uncertain significance Single submitter
- TUBA8 p.Asp306Asn Uncertain significance Single submitter
- TUBA8 p.Asp306Tyr Uncertain significance Single submitter
- TUBA8 p.Asp322Gly Uncertain significance Single submitter
- TUBA8 p.Asp327His Uncertain significance Single submitter
- TUBA8 p.Asp396Asn Uncertain significance Single submitter
- TUBA8 p.Asp396Tyr Uncertain significance Single submitter
- TUBA8 p.Asp431Glu Uncertain significance Single submitter
- TUBA8 p.Cys213Gly Uncertain significance Single submitter
- TUBA8 p.Cys25Gly Uncertain significance Single submitter
- TUBA8 p.Gln301Glu Uncertain significance Single submitter
- TUBA8 p.Gln342Arg Uncertain significance Single submitter
- TUBA8 p.Gln342Leu Uncertain significance Single submitter
- TUBA8 p.Glu155Lys Uncertain significance Single submitter
- TUBA8 p.Glu22Lys Uncertain significance Single submitter
- TUBA8 p.Glu279Lys Uncertain significance Single submitter
- TUBA8 p.Glu284Gly Uncertain significance Single submitter
-
TUBA8 p.Glu290Lys
Uncertain significance
Single submitter
macrothrombocytopenia, isolated, 2, autosomal dominant
- TUBA8 p.Glu434Asp Uncertain significance Single submitter
- TUBA8 p.Gly142Asp Uncertain significance Single submitter
- TUBA8 p.Gly246Ala Uncertain significance Single submitter
- TUBA8 p.Gly246Arg Uncertain significance Single submitter
- TUBA8 p.Gly436Arg Uncertain significance Single submitter
- TUBA8 p.Gly436Glu Uncertain significance Single submitter
- TUBA8 p.Gly59Arg Uncertain significance Single submitter
- TUBA8 p.Gly59Glu Uncertain significance Single submitter
- TUBA8 p.His197Arg Uncertain significance Single submitter
- TUBA8 p.His309Pro Uncertain significance Single submitter
- TUBA8 p.His406Pro Uncertain significance Single submitter
- TUBA8 p.His88Tyr Uncertain significance Single submitter
-
TUBA8 p.Ile171Ser
Uncertain significance
Single submitter
Duane retraction syndrome
- TUBA8 p.Ile238Val Uncertain significance Single submitter
- TUBA8 p.Ile276Thr Uncertain significance Single submitter
- TUBA8 p.Ile30Asn Uncertain significance Single submitter
- TUBA8 p.Ile5Val Uncertain significance Single submitter
-
TUBA8 p.Ile68Leu
Uncertain significance
Single submitter
macrothrombocytopenia, isolated, 2, autosomal dominant
- TUBA8 p.Ile68Val Uncertain significance Single submitter
- TUBA8 p.Leu119Met Uncertain significance Single submitter
- TUBA8 p.Leu132Pro Uncertain significance Single submitter
- TUBA8 p.Leu230Phe Uncertain significance Single submitter
- TUBA8 p.Leu23Val Uncertain significance Single submitter
- TUBA8 p.Leu242Phe Uncertain significance Single submitter
- TUBA8 p.Leu286Phe Uncertain significance Single submitter
- TUBA8 p.Leu286Pro Uncertain significance Single submitter
- TUBA8 p.Lys336Asn Uncertain significance Single submitter
- TUBA8 p.Lys338Glu Uncertain significance Single submitter
- TUBA8 p.Lys96Glu Uncertain significance Single submitter
- TUBA8 p.Met203Lys Uncertain significance Single submitter
- TUBA8 p.Met313Thr Uncertain significance Single submitter
- TUBA8 p.Met413Ile Uncertain significance Single submitter
- TUBA8 p.Met67Leu Uncertain significance Single submitter
- TUBA8 p.Phe267Leu Uncertain significance Single submitter
- TUBA8 p.Phe296Ser Uncertain significance Single submitter
- TUBA8 p.Phe36Ser Uncertain significance Single submitter
- TUBA8 p.Phe53Ser Uncertain significance Single submitter
- TUBA8 p.Pro175Arg Uncertain significance Single submitter
- TUBA8 p.Pro274Ser Uncertain significance Single submitter
- TUBA8 p.Pro307Leu Uncertain significance Single submitter
- TUBA8 p.Pro359Leu Uncertain significance Single submitter
- TUBA8 p.Pro360Ser Uncertain significance Single submitter
- TUBA8 p.Pro364Ser Uncertain significance Single submitter
- TUBA8 p.Ser140Arg Uncertain significance Single submitter
- TUBA8 p.Ser232Arg Uncertain significance Single submitter
- TUBA8 p.Ser237Pro Uncertain significance Single submitter
- TUBA8 p.Ser293Arg Uncertain significance Single submitter
- TUBA8 p.Thr126Ile Uncertain significance Single submitter
- TUBA8 p.Thr150Ile Uncertain significance Single submitter
- TUBA8 p.Thr150Ser Uncertain significance Single submitter
- TUBA8 p.Thr225Ser Uncertain significance Single submitter
- TUBA8 p.Thr271Ile Uncertain significance Single submitter
- TUBA8 p.Thr292Ile Uncertain significance Single submitter
- TUBA8 p.Thr361Ser Uncertain significance Single submitter
- TUBA8 p.Thr382Met Uncertain significance Single submitter
- TUBA8 p.Thr437Ala Uncertain significance Single submitter
- TUBA8 p.Thr50Ile Uncertain significance Single submitter
- TUBA8 p.Thr51Asn Uncertain significance Single submitter
- TUBA8 p.Thr94Ala Uncertain significance Single submitter
- TUBA8 p.Tyr185Phe Uncertain significance Single submitter
- TUBA8 p.Tyr210Cys Uncertain significance Single submitter
- TUBA8 p.Tyr262Cys Uncertain significance Single submitter
- TUBA8 p.Tyr272His Uncertain significance Single submitter
- TUBA8 p.Tyr432Cys Uncertain significance Single submitter
- TUBA8 p.Val14Phe Uncertain significance Single submitter
- TUBA8 p.Val260Leu Uncertain significance Single submitter
- TUBA8 p.Val323Leu Uncertain significance Single submitter
- TUBA8 p.Val362Met Uncertain significance Single submitter
- TUBA8 p.Val405Met Uncertain significance Single submitter
- TUBA8 p.Val409Met Uncertain significance Single submitter
- TUBA8 p.Val66Ile Uncertain significance Single submitter
- TUBA8 p.Val74Leu Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- TUBA8 p.Ala273Thr Uncertain significance Multiple submitters
- TUBA8 p.Ala400Thr Uncertain significance Multiple submitters
- TUBA8 p.Arg121His Uncertain significance Multiple submitters
- TUBA8 p.Ile332Thr Uncertain significance Multiple submitters
- TUBA8 p.Met317Val Uncertain significance Multiple submitters
- TUBA8 p.Ser294Cys Uncertain significance Multiple submitters
- TUBA8 p.Thr381Ser Uncertain significance Multiple submitters
- TUBA8 p.Arg123Gln Uncertain significance Single submitter
- TUBA8 p.Arg156His Uncertain significance Single submitter
- TUBA8 p.Arg214Cys Likely benign Single submitter
- TUBA8 p.Arg214His Uncertain significance Single submitter
- TUBA8 p.Asn216Lys Uncertain significance Single submitter
- TUBA8 p.Asn226Ser Uncertain significance Single submitter
- TUBA8 p.Glu447Lys Uncertain significance Single submitter
- TUBA8 p.Glu55Asp Uncertain significance Single submitter
- TUBA8 p.Glu55Lys Uncertain significance Single submitter
- TUBA8 p.Gly162Ser Uncertain significance Single submitter
- TUBA8 p.Gly29Ser Uncertain significance Single submitter
- TUBA8 p.His309Arg Uncertain significance Single submitter
- TUBA8 p.His393Arg Uncertain significance Single submitter
- TUBA8 p.Ile93Met Uncertain significance Single submitter
- TUBA8 p.Lys401Arg Uncertain significance Single submitter
- TUBA8 p.Phe24Leu Uncertain significance Single submitter
- TUBA8 p.Phe49Leu Uncertain significance Single submitter
- TUBA8 p.Thr193Asn Uncertain significance Single submitter
- TUBA8 p.Thr361Ala Uncertain significance Single submitter
- TUBA8 p.Val375Ile Uncertain significance Single submitter
All TUBA8 variants
Pathogenic 1
- p.Cys20Tyr No assertion criteria macrothrombocytopenia, isolated, 2, autosomal dominant
Conflicting classifications of pathogenicity 5
- p.Arg320Trp Single submitter polymicrogyria with optic nerve hypoplasia ⚠
- p.Gln301Arg Single submitter ⚠
- p.Glu445Val Single submitter ⚠
- p.Tyr83= Single submitter
- p.Val323Met Single submitter macrothrombocytopenia, isolated, 2, autosomal dominant ⚠
Benign 17
- c.1056+53G>A Multiple submitters
- c.1057-7C>T Multiple submitters
- c.226+81C>T Multiple submitters
- c.375+20_375+22del Multiple submitters
- c.375+235A>T Multiple submitters
- c.376-56G>T Multiple submitters
- c.376-75G>A Multiple submitters
- p.Ala128Val Multiple submitters
- p.Asn299= Multiple submitters
- p.Tyr108= Multiple submitters
- c.1057-141_1057-128del Single submitter
- c.1057-237del Single submitter
- c.1057-238_1057-237del Single submitter
- c.226+22dup Single submitter
- c.376-302G>T Single submitter
- c.4-5del Single submitter
- p.Thr190= Single submitter
Benign/Likely benign 6
- p.Arg84Cys Multiple submitters
- p.Arg84His Multiple submitters
- p.Leu391= Multiple submitters
- p.Pro360= Multiple submitters
- p.Tyr272= Multiple submitters
- p.Val250Met Multiple submitters
Likely benign 128
- c.1056+11A>G Multiple submitters
- c.226+82G>A Multiple submitters
- c.227-6T>C Multiple submitters
- c.3+185A>G Multiple submitters
- c.3+313A>C Multiple submitters
- c.4-112C>T Multiple submitters
- c.*144G>T Multiple submitters
- p.Ala278= Multiple submitters
- p.Arg156= Multiple submitters
- p.Asn206= Multiple submitters
- p.Glu183= Multiple submitters
- p.Leu318= Multiple submitters
- p.Phe395= Multiple submitters
- p.Pro268= Multiple submitters
- p.Pro364= Multiple submitters
- p.Ser439= Multiple submitters
- p.Tyr399= Multiple submitters
- c.1056+17T>C Single submitter
- c.1056+18A>G Single submitter
- c.1056+62G>A Single submitter
- c.1057-228T>C Single submitter
- c.226+12_226+14del Single submitter
- c.226+12C>T Single submitter
- c.226+17T>C Single submitter
- c.226+18_226+20del Single submitter
- c.227-10C>G Single submitter
- c.227-10C>T Single submitter
- c.227-165G>T Single submitter
- c.227-249T>C Single submitter
- c.3+256G>A Single submitter
- c.376-16G>A Single submitter
- c.376-34T>C Single submitter
- c.376-4C>T Single submitter
- c.4-10C>A Single submitter
- c.4-10C>T Single submitter
- c.4-15T>C Single submitter
- c.4-19T>G Single submitter
- c.4-45T>C Single submitter
- c.4-5C>A Single submitter
- c.4-6C>T Single submitter
- c.4-8C>T Single submitter
- c.-7G>C Single submitter
- c.*108C>T Single submitter
- p.Ala170= Single submitter
- p.Ala201= Single submitter
- p.Ala273= Single submitter
- p.Ala281= Single submitter
- p.Ala369= Single submitter
- p.Ala374= Single submitter
- p.Ala385= Single submitter
- p.Ala389= Single submitter
- p.Ala40= Single submitter
- p.Ala65= Single submitter
- p.Arg214Cys Single submitter ⚠
- p.Arg308= Single submitter
- p.Arg320= Single submitter
- p.Arg390= Single submitter
- p.Arg84= Single submitter
- p.Asn44= Single submitter
- p.Asp199= Single submitter
- p.Asp211= Single submitter
- p.Asp245= Single submitter
- p.Asp306= Single submitter
- p.Asp322= Single submitter
- p.Asp33= Single submitter
- p.Cys305= Single submitter
- p.Gln176= Single submitter
- p.Glu22= Single submitter
- p.Glu417= Single submitter
- p.Glu447= Single submitter
- p.Gly144= Single submitter
- p.Gly321= Single submitter
- p.Gly34= Single submitter
- p.Gly365= Single submitter
- p.Gly436= Single submitter
- p.Gly446= Single submitter
- p.Gly59= Single submitter
- p.His107= Single submitter
- p.His192= Single submitter
- p.His28= Single submitter
- p.His283= Single submitter
- p.His61= Single submitter
- p.His88= Single submitter
- p.Ile188= Single submitter
- p.Ile212= Single submitter
- p.Leu157= Single submitter
- p.Leu159= Single submitter
- p.Leu189= Single submitter
- p.Lys280= Single submitter
- p.Lys311= Single submitter
- p.Lys394= Single submitter
- p.Lys42= Single submitter
- p.Phe135= Single submitter
- p.Phe36= Single submitter
- p.Pro222= Single submitter
- p.Pro307= Single submitter
- p.Pro325= Single submitter
- p.Pro359= Single submitter
- p.Pro63= Single submitter
- p.Pro72= Single submitter
- p.Ser147= Single submitter
- p.Ser158= Single submitter
- p.Ser236= Single submitter
- p.Ser237= Single submitter
- p.Ser294= Single submitter
- p.Ser379= Single submitter
- p.Ser54= Single submitter
- p.Thr145= Single submitter
- p.Thr191= Single submitter
- p.Thr223= Single submitter
- p.Thr337= Single submitter
- p.Thr340= Single submitter
- p.Thr361= Single submitter
- p.Thr381= Single submitter
- p.Thr82= Single submitter
- p.Thr94= Single submitter
- p.Tyr262= Single submitter
- p.Tyr408= Single submitter
- p.Val181= Single submitter
- p.Val182= Single submitter
- p.Val303= Single submitter
- p.Val323= Single submitter
- p.Val328= Single submitter
- p.Val330= Single submitter
- p.Val363= Single submitter
- p.Val66= Single submitter
- p.Val74= Single submitter
- p.Tyr103= No assertion criteria TUBA8-related disorder
Uncertain significance 211
- p.Ala273Thr Multiple submitters ⚠
- p.Ala383Val Multiple submitters ⚠
- p.Ala385Glu Multiple submitters ⚠
- p.Ala385Val Multiple submitters
- p.Ala400Thr Multiple submitters ⚠
- p.Arg121Cys Multiple submitters ⚠
- p.Arg121His Multiple submitters ⚠
- p.Arg156Cys Multiple submitters
- p.Arg156Ser Multiple submitters ⚠
- p.Arg229Cys Multiple submitters ⚠
- p.Arg229His Multiple submitters ⚠
- p.Arg243Cys Multiple submitters polymicrogyria with optic nerve hypoplasia ⚠
- p.Arg243His Multiple submitters polymicrogyria with optic nerve hypoplasia ⚠
- p.Arg264His Multiple submitters ⚠
- p.Arg2Gln Multiple submitters polymicrogyria with optic nerve hypoplasia ⚠
- p.Arg2Trp Multiple submitters ⚠
- p.Arg320Gln Multiple submitters ⚠
- p.Arg373Trp Multiple submitters polymicrogyria with optic nerve hypoplasia ⚠
- p.Arg390Cys Multiple submitters ⚠
- p.Arg402Gln Multiple submitters ⚠
- p.Arg402Trp Multiple submitters ⚠
- p.Arg64Trp Multiple submitters ⚠
- p.Asn44Lys Multiple submitters ⚠
- p.Asp116Tyr Multiple submitters ⚠
- p.Asp98Asn Multiple submitters ⚠
- p.Glu284Lys Multiple submitters ⚠
- p.Glu417Ala Multiple submitters ⚠
- p.Glu442Lys Multiple submitters ⚠
- p.Glu447Gly Multiple submitters ⚠
- p.Gly143Trp Multiple submitters ⚠
- p.Gly365Arg Multiple submitters ⚠
- p.His139fs Multiple submitters
- p.Ile332Thr Multiple submitters ⚠
- p.Ile43Thr Multiple submitters ⚠
- p.Lys394Arg Multiple submitters ⚠
- p.Met317Val Multiple submitters ⚠
- p.Pro268Leu Multiple submitters ⚠
- p.Pro360Leu Multiple submitters ⚠
- p.Ser237fs Multiple submitters
- p.Ser294Cys Multiple submitters ⚠
- p.Ser439Leu Multiple submitters ⚠
- p.Thr109Met Multiple submitters ⚠
- p.Thr381Ser Multiple submitters ⚠
- p.Thr56Ser Multiple submitters ⚠
- p.Tyr108Cys Multiple submitters ⚠
- p.Tyr185Cys Multiple submitters ⚠
- p.Val9Leu Multiple submitters
- c.226+3G>A Single submitter
- c.226+6T>A Single submitter
- c.227-2del Single submitter
- c.375+12_375+26del Single submitter
- c.376-2A>G Single submitter
- p.Ala100Thr Single submitter ⚠
- p.Ala12Thr Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala208fs Single submitter
- p.Ala273Glu Single submitter ⚠
- p.Ala273Val Single submitter ⚠
- p.Ala281Ser Single submitter
- p.Ala331Thr Single submitter ⚠
- p.Ala333Thr Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala389Val Single submitter ⚠
- p.Ala427Ser Single submitter ⚠
- p.Arg105Gln Single submitter ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg123Trp Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg221Cys Single submitter polymicrogyria with optic nerve hypoplasia
- p.Arg229Gly Single submitter ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg308fs Single submitter
- p.Arg320Leu Single submitter ⚠
- p.Arg373Gln Single submitter ⚠
- p.Arg390His Single submitter ⚠
- p.Arg64fs Single submitter
- p.Arg64Gln Single submitter ⚠
- p.Arg79Leu Single submitter ⚠
- p.Arg79Trp Single submitter ⚠
- p.Asn216Lys Single submitter ⚠
- p.Asn226Ser Single submitter ⚠
- p.Asn299fs Single submitter
- p.Asn356fs Single submitter microcephaly
- p.Asn356Lys Single submitter ⚠
- p.Asp116Val Single submitter ⚠
- p.Asp127Gly Single submitter ⚠
- p.Asp205Glu Single submitter ⚠
- p.Asp245Val Single submitter ⚠
- p.Asp306Asn Single submitter ⚠
- p.Asp306Tyr Single submitter ⚠
- p.Asp322Gly Single submitter ⚠
- p.Asp327His Single submitter ⚠
- p.Asp345fs Single submitter
- p.Asp392Asn Single submitter
- p.Asp396Asn Single submitter ⚠
- p.Asp396Tyr Single submitter ⚠
- p.Asp431Glu Single submitter ⚠
- p.Cys213Gly Single submitter ⚠
- p.Cys25Gly Single submitter ⚠
- p.Gln301Glu Single submitter ⚠
- p.Gln31Ter Single submitter
- p.Gln342Arg Single submitter ⚠
- p.Gln342Leu Single submitter ⚠
- p.Glu155Lys Single submitter ⚠
- p.Glu22Lys Single submitter ⚠
- p.Glu279Lys Single submitter ⚠
- p.Glu284Gly Single submitter ⚠
- p.Glu290fs Single submitter
- p.Glu290Lys Single submitter macrothrombocytopenia, isolated, 2, autosomal dominant ⚠
- p.Glu297Ter Single submitter
- p.Glu434Asp Single submitter ⚠
- p.Glu447Lys Single submitter ⚠
- p.Glu55Asp Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Gly142Asp Single submitter ⚠
- p.Gly162Ser Single submitter ⚠
- p.Gly246Ala Single submitter ⚠
- p.Gly246Arg Single submitter ⚠
- p.Gly29Ser Single submitter ⚠
- p.Gly436Arg Single submitter ⚠
- p.Gly436Glu Single submitter ⚠
- p.Gly59Arg Single submitter ⚠
- p.Gly59Glu Single submitter ⚠
- p.His197Arg Single submitter ⚠
- p.His309Arg Single submitter ⚠
- p.His309Pro Single submitter ⚠
- p.His393Arg Single submitter ⚠
- p.His406Pro Single submitter ⚠
- p.His88Tyr Single submitter ⚠
- p.Ile171Ser Single submitter Duane retraction syndrome ⚠
- p.Ile238Val Single submitter ⚠
- p.Ile276Thr Single submitter ⚠
- p.Ile291Thr Single submitter
- p.Ile30Asn Single submitter ⚠
- p.Ile5Val Single submitter ⚠
- p.Ile68Leu Single submitter macrothrombocytopenia, isolated, 2, autosomal dominant ⚠
- p.Ile68Val Single submitter ⚠
- p.Ile93Met Single submitter ⚠
- p.Leu119Met Single submitter ⚠
- p.Leu132Pro Single submitter ⚠
- p.Leu230Phe Single submitter ⚠
- p.Leu23Val Single submitter ⚠
- p.Leu242Phe Single submitter ⚠
- p.Leu286Phe Single submitter ⚠
- p.Leu286Pro Single submitter ⚠
- p.Lys336Asn Single submitter ⚠
- p.Lys338Glu Single submitter ⚠
- p.Lys401Arg Single submitter ⚠
- p.Lys96Glu Single submitter ⚠
- p.Met203Lys Single submitter ⚠
- p.Met313Thr Single submitter ⚠
- p.Met317fs Single submitter
- p.Met413Ile Single submitter ⚠
- p.Met67Leu Single submitter ⚠
- p.Phe24Leu Single submitter ⚠
- p.Phe267Leu Single submitter ⚠
- p.Phe296_Ser300del Single submitter
- p.Phe296Ser Single submitter ⚠
- p.Phe36Leu Single submitter
- p.Phe36Ser Single submitter ⚠
- p.Phe49Leu Single submitter ⚠
- p.Phe53Ser Single submitter ⚠
- p.Pro175Arg Single submitter ⚠
- p.Pro274Ser Single submitter ⚠
- p.Pro307del Single submitter
- p.Pro307Leu Single submitter ⚠
- p.Pro359Leu Single submitter ⚠
- p.Pro360Ser Single submitter ⚠
- p.Pro364Ser Single submitter ⚠
- p.Pro89= Single submitter
- p.Ser140Arg Single submitter ⚠
- p.Ser232Arg Single submitter ⚠
- p.Ser237Pro Single submitter ⚠
- p.Ser293Arg Single submitter ⚠
- p.Thr126Ile Single submitter ⚠
- p.Thr150Ile Single submitter ⚠
- p.Thr150Ser Single submitter ⚠
- p.Thr193Asn Single submitter ⚠
- p.Thr225Ser Single submitter ⚠
- p.Thr271Ile Single submitter ⚠
- p.Thr292Ile Single submitter ⚠
- p.Thr361Ala Single submitter ⚠
- p.Thr361Ser Single submitter ⚠
- p.Thr382Met Single submitter ⚠
- p.Thr437Ala Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Thr51Asn Single submitter ⚠
- p.Thr94Ala Single submitter ⚠
- p.Trp346Ter Single submitter
- p.Trp407Ter Single submitter macrothrombocytopenia, isolated, 2, autosomal dominant
- p.Tyr108fs Single submitter
- p.Tyr185Phe Single submitter ⚠
- p.Tyr185Ter Single submitter
- p.Tyr210Cys Single submitter ⚠
- p.Tyr262Cys Single submitter ⚠
- p.Tyr272His Single submitter ⚠
- p.Tyr432Cys Single submitter ⚠
- p.Val14Phe Single submitter ⚠
- p.Val260Leu Single submitter ⚠
- p.Val323Leu Single submitter ⚠
- p.Val362Met Single submitter ⚠
- p.Val375Ile Single submitter ⚠
- p.Val405Met Single submitter ⚠
- p.Val409Met Single submitter ⚠
- p.Val66Ile Single submitter ⚠
- p.Val74Leu Single submitter ⚠
- p.Val75Met Single submitter ⚠
- p.Val78Phe Single submitter ⚠
- c.4-21_4-8del No assertion criteria polymicrogyria with optic nerve hypoplasia