TSEN34 — 200 ClinVar variants
All ClinVar germline TSEN34 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 10 Conflicting · 29 Benign · 5 Benign/Likely benign · 47 Likely benign · 107 Uncertain significance
Full TSEN34 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TSEN34 p.Arg77Pro
Conflicting
Single submitter
pontocerebellar hypoplasia
-
TSEN34 p.Glu92Gln
Conflicting
Single submitter
pontocerebellar hypoplasia
- TSEN34 p.Pro194Leu Conflicting Single submitter
-
TSEN34 p.Ser131Leu
Conflicting
Single submitter
pontocerebellar hypoplasia
- TSEN34 p.Ser151Gly Conflicting Single submitter
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TSEN34 p.Arg25Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia
- TSEN34 p.Ile116Phe Uncertain significance Multiple submitters
- TSEN34 p.Leu227Val Uncertain significance Multiple submitters
- TSEN34 p.Ser142Gly Uncertain significance Multiple submitters
- TSEN34 p.Thr32Met Uncertain significance Multiple submitters
- TSEN34 p.Thr32Pro Uncertain significance Multiple submitters
- TSEN34 p.Ala122Val Uncertain significance Single submitter
- TSEN34 p.Ala130Val Uncertain significance Single submitter
-
TSEN34 p.Ala133Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia
- TSEN34 p.Ala155Gly Uncertain significance Single submitter
- TSEN34 p.Ala190Thr Uncertain significance Single submitter
- TSEN34 p.Ala216Val Uncertain significance Single submitter
- TSEN34 p.Ala82Thr Uncertain significance Single submitter
- TSEN34 p.Arg108Gly Uncertain significance Single submitter
- TSEN34 p.Arg108Ser Uncertain significance Single submitter
- TSEN34 p.Arg214Cys Uncertain significance Single submitter
- TSEN34 p.Arg279His Uncertain significance Single submitter
- TSEN34 p.Asp296Glu Uncertain significance Single submitter
- TSEN34 p.Gln143Arg Uncertain significance Single submitter
- TSEN34 p.Gln154Pro Uncertain significance Single submitter
- TSEN34 p.Gln90Glu Uncertain significance Single submitter
- TSEN34 p.Glu114Gly Uncertain significance Single submitter
- TSEN34 p.Gly170Arg Uncertain significance Single submitter
- TSEN34 p.Gly174Arg Uncertain significance Single submitter
- TSEN34 p.Gly174Glu Uncertain significance Single submitter
- TSEN34 p.Gly281Arg Uncertain significance Single submitter
- TSEN34 p.Gly30Cys Uncertain significance Single submitter
- TSEN34 p.Gly39Glu Uncertain significance Single submitter
- TSEN34 p.Gly47Arg Uncertain significance Single submitter
- TSEN34 p.Gly9Cys Uncertain significance Single submitter
- TSEN34 p.His79Arg Uncertain significance Single submitter
- TSEN34 p.Lys124Arg Uncertain significance Single submitter
- TSEN34 p.Pro199Ser Uncertain significance Single submitter
- TSEN34 p.Pro210Arg Uncertain significance Single submitter
- TSEN34 p.Pro248Ser Uncertain significance Single submitter
- TSEN34 p.Pro265Arg Uncertain significance Single submitter
- TSEN34 p.Pro49Leu Uncertain significance Single submitter
- TSEN34 p.Pro49Ser Uncertain significance Single submitter
- TSEN34 p.Pro72Ala Uncertain significance Single submitter
- TSEN34 p.Ser11Ala Uncertain significance Single submitter
- TSEN34 p.Ser141Pro Uncertain significance Single submitter
- TSEN34 p.Ser156Leu Uncertain significance Single submitter
- TSEN34 p.Ser76Cys Uncertain significance Single submitter
- TSEN34 p.Ser93Asn Uncertain significance Single submitter
- TSEN34 p.Thr268Ile Uncertain significance Single submitter
- TSEN34 p.Thr84Ala Uncertain significance Single submitter
- TSEN34 p.Trp263Ser Uncertain significance Single submitter
- TSEN34 p.Tyr221His Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- TSEN34 p.Arg253His Uncertain significance Multiple submitters
-
TSEN34 p.Arg88Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia
- TSEN34 p.Asp148Tyr Uncertain significance Multiple submitters
- TSEN34 p.Gly39Arg Uncertain significance Multiple submitters
-
TSEN34 p.Leu2Pro
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia
- TSEN34 p.Ser181Tyr Uncertain significance Multiple submitters
- TSEN34 p.Ala182Val Uncertain significance Single submitter
- TSEN34 p.Ala264Val Uncertain significance Single submitter
- TSEN34 p.Ala99Pro Uncertain significance Single submitter
- TSEN34 p.Arg108Cys Uncertain significance Single submitter
- TSEN34 p.Arg109Gly Uncertain significance Single submitter
- TSEN34 p.Arg109Pro Uncertain significance Single submitter
- TSEN34 p.Arg230Gly Uncertain significance Single submitter
- TSEN34 p.Gln186Lys Uncertain significance Single submitter
- TSEN34 p.Glu5Val Uncertain significance Single submitter
- TSEN34 p.Gly119Asp Uncertain significance Single submitter
- TSEN34 p.Gly242Ser Uncertain significance Single submitter
- TSEN34 p.Gly27Arg Uncertain significance Single submitter
- TSEN34 p.His257Arg Uncertain significance Single submitter
- TSEN34 p.Lys123Glu Uncertain significance Single submitter
- TSEN34 p.Pro199His Uncertain significance Single submitter
- TSEN34 p.Pro40Arg Uncertain significance Single submitter
- TSEN34 p.Ser134Asn Uncertain significance Single submitter
- TSEN34 p.Ser292Phe Uncertain significance Single submitter
- TSEN34 p.Thr189Ile Uncertain significance Single submitter
-
TSEN34 p.Thr302Ile
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 2C
-
TSEN34 p.Thr32Lys
Uncertain significance
Single submitter
pontocerebellar hypoplasia
- TSEN34 p.Trp306Arg Uncertain significance Single submitter
- TSEN34 p.Val13Ala Uncertain significance Single submitter
All TSEN34 variants
Pathogenic 1
- p.Arg58Trp No assertion criteria pontocerebellar hypoplasia type 2C
Likely pathogenic 1
- p.Leu289fs Single submitter pontocerebellar hypoplasia type 2C
Conflicting classifications of pathogenicity 10
- c.-8G>A Single submitter
- p.Arg225= Single submitter pontocerebellar hypoplasia
- p.Arg77Pro Single submitter pontocerebellar hypoplasia ⚠
- p.Cys262= Single submitter pontocerebellar hypoplasia
- p.Glu92Gln Single submitter pontocerebellar hypoplasia ⚠
- p.His255= Single submitter pontocerebellar hypoplasia
- p.Pro194Leu Single submitter ⚠
- p.Ser131Leu Single submitter pontocerebellar hypoplasia ⚠
- p.Ser151Gly Single submitter ⚠
- p.Ser156= Single submitter pontocerebellar hypoplasia type 2C
Benign 29
- c.-4-197C>G Multiple submitters
- c.-4-239= Multiple submitters
- c.-5+249= Multiple submitters
- c.-5+33G>C Multiple submitters
- c.-53= Multiple submitters
- c.*1128G>T Multiple submitters pontocerebellar hypoplasia
- c.*245A>C Multiple submitters pontocerebellar hypoplasia
- c.*29G>A Multiple submitters pontocerebellar hypoplasia
- c.*385= Multiple submitters pontocerebellar hypoplasia
- c.*497= Multiple submitters pontocerebellar hypoplasia
- c.*928A>G Multiple submitters pontocerebellar hypoplasia
- p.Arg230= Multiple submitters pontocerebellar hypoplasia
- p.Leu112Val Multiple submitters pontocerebellar hypoplasia
- p.Pro265= Multiple submitters pontocerebellar hypoplasia
- c.243+19A>G Single submitter
- c.745+265= Single submitter
- c.745+83dup Single submitter
- c.746-161_746-155dup Single submitter
- c.746-162_746-155dup Single submitter
- c.746-163_746-155dup Single submitter
- c.746-169= Single submitter
- c.746-183C>G Single submitter
- c.746-3del Single submitter
- c.*1163C>G Single submitter pontocerebellar hypoplasia
- c.*385A>C Single submitter pontocerebellar hypoplasia
- c.*688T>A Single submitter pontocerebellar hypoplasia
- c.*815G>A Single submitter pontocerebellar hypoplasia
- c.*865A>G Single submitter pontocerebellar hypoplasia
- c.*262T>C No assertion criteria TSEN34-related disorder
Benign/Likely benign 5
- c.*109A>G Multiple submitters pontocerebellar hypoplasia
- c.*175T>C Multiple submitters pontocerebellar hypoplasia
- p.Arg105Gln Multiple submitters pontocerebellar hypoplasia
- p.Gly132Arg Multiple submitters
- p.Val13= Multiple submitters pontocerebellar hypoplasia
Likely benign 47
- c.745+120G>C Multiple submitters
- c.-4-135C>T Multiple submitters
- c.-4-158G>T Multiple submitters
- c.-4-170G>C Multiple submitters
- c.-5+15G>A Multiple submitters pontocerebellar hypoplasia
- c.*1053G>A Multiple submitters pontocerebellar hypoplasia
- p.Gly241= Multiple submitters
- p.Leu309= Multiple submitters
- p.Leu59= Multiple submitters
- p.Phe233= Multiple submitters
- p.Ser166= Multiple submitters
- p.Ser303= Multiple submitters
- c.243+17C>G Single submitter
- c.487+19G>T Single submitter
- c.488-13T>A Single submitter
- c.488-14G>C Single submitter
- c.488-16C>A Single submitter
- c.745+83del Single submitter
- c.746-155del Single submitter
- c.746-164_746-155dup Single submitter
- c.746-4C>T Single submitter
- c.-4-170del Single submitter
- c.-4-66G>A Single submitter
- c.-95A>G Single submitter pontocerebellar hypoplasia
- c.-9C>T Single submitter
- c.*385A>T Single submitter pontocerebellar hypoplasia
- p.Ala104= Single submitter
- p.Ala61= Single submitter
- p.Arg198= Single submitter
- p.Gln305= Single submitter
- p.Glu158= Single submitter
- p.Glu266Gly Single submitter
- p.Gly30= Single submitter
- p.His211= Single submitter
- p.Ile259= Single submitter
- p.Leu113= Single submitter
- p.Leu234= Single submitter
- p.Leu68= Single submitter
- p.Pro164Ser Single submitter
- p.Pro194= Single submitter
- p.Pro72= Single submitter
- p.Ser308= Single submitter
- p.Thr107= Single submitter
- p.Thr282= Single submitter
- p.Tyr247= Single submitter
- c.488-9C>T No assertion criteria TSEN34-related disorder
- c.-33G>C No assertion criteria
Uncertain significance 107
- p.Arg253His Multiple submitters ⚠
- p.Arg25Cys Multiple submitters pontocerebellar hypoplasia ⚠
- p.Arg88Cys Multiple submitters pontocerebellar hypoplasia ⚠
- p.Asp148Tyr Multiple submitters ⚠
- p.Gly39Arg Multiple submitters ⚠
- p.Ile116Phe Multiple submitters ⚠
- p.Leu227Val Multiple submitters ⚠
- p.Leu2Pro Multiple submitters pontocerebellar hypoplasia ⚠
- p.Ser142Gly Multiple submitters ⚠
- p.Ser181Tyr Multiple submitters ⚠
- p.Thr32Met Multiple submitters ⚠
- p.Thr32Pro Multiple submitters ⚠
- c.487+11G>T Single submitter
- c.488-2A>C Single submitter
- c.-41G>A Single submitter pontocerebellar hypoplasia
- c.*1046T>C Single submitter pontocerebellar hypoplasia
- c.*199A>T Single submitter pontocerebellar hypoplasia
- c.*276G>C Single submitter pontocerebellar hypoplasia
- c.*358T>C Single submitter pontocerebellar hypoplasia
- c.*384G>C Single submitter pontocerebellar hypoplasia
- c.*458C>T Single submitter pontocerebellar hypoplasia
- c.*496T>A Single submitter pontocerebellar hypoplasia
- c.*692A>G Single submitter pontocerebellar hypoplasia
- c.*758T>G Single submitter pontocerebellar hypoplasia
- c.*836C>T Single submitter pontocerebellar hypoplasia
- c.*842T>G Single submitter pontocerebellar hypoplasia
- c.*863G>A Single submitter pontocerebellar hypoplasia
- c.*948C>T Single submitter pontocerebellar hypoplasia
- c.*94C>T Single submitter pontocerebellar hypoplasia
- c.*993C>T Single submitter pontocerebellar hypoplasia
- c.*999A>G Single submitter pontocerebellar hypoplasia
- p.Ala122Val Single submitter ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala133Pro Single submitter pontocerebellar hypoplasia ⚠
- p.Ala155Gly Single submitter ⚠
- p.Ala182Val Single submitter ⚠
- p.Ala190Thr Single submitter ⚠
- p.Ala197= Single submitter pontocerebellar hypoplasia
- p.Ala216Val Single submitter ⚠
- p.Ala264Val Single submitter ⚠
- p.Ala82Thr Single submitter ⚠
- p.Ala99Pro Single submitter ⚠
- p.Arg108Cys Single submitter ⚠
- p.Arg108Gly Single submitter ⚠
- p.Arg108Ser Single submitter ⚠
- p.Arg109Gly Single submitter ⚠
- p.Arg109Pro Single submitter ⚠
- p.Arg214= Single submitter
- p.Arg214Cys Single submitter ⚠
- p.Arg230Gly Single submitter ⚠
- p.Arg253Cys Single submitter
- p.Arg279His Single submitter ⚠
- p.Asp296Glu Single submitter ⚠
- p.Gln125Ter Single submitter
- p.Gln143Arg Single submitter ⚠
- p.Gln154Pro Single submitter ⚠
- p.Gln186Lys Single submitter ⚠
- p.Gln90Glu Single submitter ⚠
- p.Glu114Gly Single submitter ⚠
- p.Glu229= Single submitter pontocerebellar hypoplasia
- p.Glu5Val Single submitter ⚠
- p.Gly119Asp Single submitter ⚠
- p.Gly170Arg Single submitter ⚠
- p.Gly174Arg Single submitter ⚠
- p.Gly174Glu Single submitter ⚠
- p.Gly242Ser Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly281Arg Single submitter ⚠
- p.Gly30Cys Single submitter ⚠
- p.Gly39Glu Single submitter ⚠
- p.Gly47Arg Single submitter ⚠
- p.Gly9Cys Single submitter ⚠
- p.His257Arg Single submitter ⚠
- p.His79Arg Single submitter ⚠
- p.Leu51= Single submitter pontocerebellar hypoplasia
- p.Lys123= Single submitter
- p.Lys123Glu Single submitter ⚠
- p.Lys124Arg Single submitter ⚠
- p.Pro199His Single submitter ⚠
- p.Pro199Ser Single submitter ⚠
- p.Pro210Arg Single submitter ⚠
- p.Pro248= Single submitter
- p.Pro248Ser Single submitter ⚠
- p.Pro265Arg Single submitter ⚠
- p.Pro40Arg Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Pro49Ser Single submitter ⚠
- p.Pro72Ala Single submitter ⚠
- p.Ser11Ala Single submitter ⚠
- p.Ser134Asn Single submitter ⚠
- p.Ser141Pro Single submitter ⚠
- p.Ser156Leu Single submitter ⚠
- p.Ser292Phe Single submitter ⚠
- p.Ser76Cys Single submitter ⚠
- p.Ser93Asn Single submitter ⚠
- p.Ser98= Single submitter pontocerebellar hypoplasia
- p.Thr189Ile Single submitter ⚠
- p.Thr268Ile Single submitter ⚠
- p.Thr302Ile Single submitter pontocerebellar hypoplasia type 2C ⚠
- p.Thr32= Single submitter pontocerebellar hypoplasia
- p.Thr32Lys Single submitter pontocerebellar hypoplasia ⚠
- p.Thr84Ala Single submitter ⚠
- p.Trp263Ser Single submitter ⚠
- p.Trp306Arg Single submitter ⚠
- p.Tyr221His Single submitter ⚠
- p.Val13Ala Single submitter ⚠
- p.Val284Ile Single submitter