TUBB8 — 124 ClinVar variants
All ClinVar germline TUBB8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
12 Pathogenic · 34 Likely pathogenic · 1 Conflicting · 13 Benign · 1 Benign/Likely benign · 27 Likely benign · 36 Uncertain significance
Full TUBB8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TUBB8 p.Ala314Ser
Likely pathogenic
No assertion criteria
oocyte maturation defect 2
-
TUBB8 p.Arg306Cys
Likely pathogenic
No assertion criteria
oocyte maturation defect 2
-
TUBB8 p.Arg58Lys
Likely pathogenic
No assertion criteria
oocyte maturation defect 2
-
TUBB8 p.Asn298Ser
Likely pathogenic
No assertion criteria
oocyte maturation defect 2
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TUBB8 p.Val349Ile
Conflicting
Single submitter
oocyte maturation defect 2
Predictors lean, ClinVar uncertain 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TUBB8 p.Ala313Val
Uncertain significance
Multiple submitters
oocyte maturation defect 2
-
TUBB8 p.Arg282Pro
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Asp177His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Cys354Arg
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Glu123Lys
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Gly146Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB8 p.Gly400Asp Uncertain significance Single submitter
-
TUBB8 p.Gly56Ser
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Ile202Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Leu130Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Leu187Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Met233Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Pro171Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Pro243Leu
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Pro346Thr
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Pro70Leu
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Ser172Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Ser212Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Ser339Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Trp101Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Tyr422His
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 14
The independent predictors disagree with each other — read with care.
-
TUBB8 p.Arg162Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Arg282Trp
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Arg2Lys
Pathogenic
Single submitter
oocyte maturation defect 2
- TUBB8 p.Arg309Cys Uncertain significance Single submitter
-
TUBB8 p.Arg320His
Uncertain significance
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Asp26Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB8 p.Asp417Asn
Pathogenic
Single submitter
oocyte maturation defect 2
-
TUBB8 p.Cys95Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB8 p.Leu42Val Uncertain significance Single submitter
-
TUBB8 p.Phe200Leu
Uncertain significance
Single submitter
female infertility
-
TUBB8 p.Phe90Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB8 p.Ser78Leu Uncertain significance Single submitter
-
TUBB8 p.Gln424Arg
Likely pathogenic
No assertion criteria
oocyte maturation defect 2
-
TUBB8 p.Glu198Asp
Likely pathogenic
No assertion criteria
oocyte maturation defect 2
All TUBB8 variants
Pathogenic 12
- p.Arg262Gln Single submitter oocyte maturation defect 2
- p.Arg2Lys Single submitter oocyte maturation defect 2 ⚠
- p.Asp417Asn Single submitter oocyte maturation defect 2 ⚠
- p.Met300Ile Single submitter oocyte maturation defect 2
- p.Met363Thr Single submitter oocyte maturation defect 2
- p.Ser176Leu Single submitter oocyte maturation defect 2
- p.Val229Ala Single submitter oocyte maturation defect 2
- p.Arg241His No assertion criteria oocyte maturation defect 2
- p.Glu27_Ala33del No assertion criteria oocyte maturation defect 2
- p.Gly402fs No assertion criteria oocyte maturation defect 2
- p.Thr143fs No assertion criteria oocyte maturation defect 2
- p.Thr238Met No assertion criteria oocyte maturation defect 2
Likely pathogenic 34
- p.Val255Met Multiple submitters inherited oocyte maturation defect
- p.Gln245His Single submitter oocyte maturation defect 2
- p.Glu108Lys Single submitter oocyte maturation defect 2
- p.Gly308Ser Single submitter oocyte maturation defect 2
- p.Gly98Arg Single submitter oocyte maturation defect 2
- p.Phe294Leu Single submitter oocyte maturation defect 2
- p.Thr136Ter Single submitter oocyte maturation defect 2
- p.Trp344Arg Single submitter oocyte maturation defect 2
- p.Val76fs Single submitter oocyte maturation defect 2
- p.Ala314Ser No assertion criteria oocyte maturation defect 2 ⚠
- p.Ala393Asp No assertion criteria oocyte maturation defect 2
- p.Arg306Cys No assertion criteria oocyte maturation defect 2 ⚠
- p.Arg391His No assertion criteria oocyte maturation defect 2
- p.Arg46Cys No assertion criteria oocyte maturation defect 2
- p.Arg58Lys No assertion criteria oocyte maturation defect 2 ⚠
- p.Asn184Asp No assertion criteria oocyte maturation defect 2
- p.Asn298Ser No assertion criteria oocyte maturation defect 2 ⚠
- p.Asn414Lys No assertion criteria oocyte maturation defect 2
- p.Gln424Arg No assertion criteria oocyte maturation defect 2 ⚠
- p.Glu198Asp No assertion criteria oocyte maturation defect 2 ⚠
- p.Glu205Lys No assertion criteria oocyte maturation defect 2
- p.Gly109Val No assertion criteria oocyte maturation defect 2
- p.Gly132Cys No assertion criteria oocyte maturation defect 2
- p.Gly141Ala No assertion criteria oocyte maturation defect 2
- p.Ile210Lys No assertion criteria oocyte maturation defect 2
- p.Ile4Leu No assertion criteria oocyte maturation defect 2
- p.Leu377Pro No assertion criteria oocyte maturation defect 2
- p.Met388Thr No assertion criteria oocyte maturation defect 2
- p.Pro182Ser No assertion criteria oocyte maturation defect 2
- p.Pro358Leu No assertion criteria oocyte maturation defect 2
- p.Pro70Thr No assertion criteria oocyte maturation defect 2
- p.Trp397Gly No assertion criteria oocyte maturation defect 2
- p.Val179Met No assertion criteria oocyte maturation defect 2
- p.Val180Ala No assertion criteria oocyte maturation defect 2
Conflicting classifications of pathogenicity 1
- p.Val349Ile Single submitter oocyte maturation defect 2 ⚠
Benign 13
- c.277+10G>A Multiple submitters oocyte maturation defect 2
- c.277+129G>A Multiple submitters oocyte maturation defect 2
- c.278-82G>A Multiple submitters oocyte maturation defect 2
- c.57+26T>C Multiple submitters oocyte maturation defect 2
- c.57+48C>T Multiple submitters oocyte maturation defect 2
- c.58-18T>C Multiple submitters oocyte maturation defect 2
- c.58-20T>G Multiple submitters oocyte maturation defect 2
- c.-175C>T Multiple submitters oocyte maturation defect 2
- c.-48T>A Multiple submitters oocyte maturation defect 2
- c.-51G>A Multiple submitters oocyte maturation defect 2
- p.Pro243= Multiple submitters oocyte maturation defect 2
- p.Ser172= Multiple submitters oocyte maturation defect 2
- p.Ser32= Multiple submitters
Benign/Likely benign 1
- p.Glu3= Multiple submitters
Likely benign 27
- p.Val60= Multiple submitters
- c.278-12G>A Single submitter
- c.278-18G>A Single submitter
- c.278-5T>C Single submitter
- p.Ala254= Single submitter
- p.Ala29= Single submitter
- p.Ala97= Single submitter
- p.Asp118= Single submitter
- p.Asp88= Single submitter
- p.Cys303Arg Single submitter oocyte maturation defect 2
- p.Gln134His Single submitter
- p.Gln329= Single submitter
- p.Glu434_Glu442del Single submitter
- p.Gly109= Single submitter
- p.Ile163= Single submitter
- p.Ile169Val Single submitter
- p.Ile9= Single submitter
- p.Ile91= Single submitter
- p.Leu130Pro Single submitter
- p.Leu289= Single submitter
- p.Pro259= Single submitter
- p.Pro70= Single submitter
- p.Ser138= Single submitter
- p.Ser176= Single submitter
- p.Ser75= Single submitter
- p.Thr107= Single submitter
- p.Thr429= Single submitter
Uncertain significance 36
- p.Ala313Val Multiple submitters oocyte maturation defect 2 ⚠
- p.Arg380His Multiple submitters oocyte maturation defect 2
- c.167-4G>T Single submitter
- c.277+2T>C Single submitter oocyte maturation defect 2
- p.Arg162Lys Single submitter Inborn genetic diseases ⚠
- p.Arg282Pro Single submitter oocyte maturation defect 2 ⚠
- p.Arg282Trp Single submitter oocyte maturation defect 2 ⚠
- p.Arg309Cys Single submitter ⚠
- p.Arg318= Single submitter
- p.Arg320His Single submitter oocyte maturation defect 2 ⚠
- p.Asp177His Single submitter Inborn genetic diseases ⚠
- p.Asp26Asn Single submitter Inborn genetic diseases ⚠
- p.Cys354Arg Single submitter oocyte maturation defect 2 ⚠
- p.Cys95Arg Single submitter Inborn genetic diseases ⚠
- p.Glu123Lys Single submitter oocyte maturation defect 2 ⚠
- p.Gly146Val Single submitter Inborn genetic diseases ⚠
- p.Gly400Asp Single submitter ⚠
- p.Gly56Ser Single submitter oocyte maturation defect 2 ⚠
- p.Ile202Val Single submitter Inborn genetic diseases ⚠
- p.Ile368Thr Single submitter oocyte maturation defect 2
- p.Leu130Arg Single submitter Inborn genetic diseases ⚠
- p.Leu187Phe Single submitter Inborn genetic diseases ⚠
- p.Leu42Val Single submitter ⚠
- p.Met233Arg Single submitter Inborn genetic diseases ⚠
- p.Phe200Leu Single submitter female infertility ⚠
- p.Phe90Leu Single submitter Inborn genetic diseases ⚠
- p.Pro171Leu Single submitter Inborn genetic diseases ⚠
- p.Pro243Leu Single submitter oocyte maturation defect 2 ⚠
- p.Pro346Thr Single submitter oocyte maturation defect 2 ⚠
- p.Pro70Leu Single submitter oocyte maturation defect 2 ⚠
- p.Ser172Leu Single submitter Inborn genetic diseases ⚠
- p.Ser212Cys Single submitter Inborn genetic diseases ⚠
- p.Ser339Asn Single submitter Inborn genetic diseases ⚠
- p.Ser78Leu Single submitter ⚠
- p.Trp101Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr422His Single submitter Inborn genetic diseases ⚠