TSSK2 — 64 ClinVar variants
All ClinVar germline TSSK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
3 Likely benign · 61 Uncertain significance
Full TSSK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TSSK2 p.Arg118Gln Uncertain significance Single submitter
- TSSK2 p.Arg160Cys Uncertain significance Single submitter
- TSSK2 p.Arg160His Uncertain significance Single submitter
- TSSK2 p.Arg232His Uncertain significance Single submitter
- TSSK2 p.Arg310Gly Uncertain significance Single submitter
- TSSK2 p.Arg322Gln Uncertain significance Single submitter
- TSSK2 p.Arg322Leu Uncertain significance Single submitter
- TSSK2 p.Arg33His Uncertain significance Single submitter
- TSSK2 p.Arg45Cys Uncertain significance Single submitter
- TSSK2 p.Asn37Asp Uncertain significance Single submitter
- TSSK2 p.Asn68Ser Uncertain significance Single submitter
- TSSK2 p.Asp220Asn Uncertain significance Single submitter
- TSSK2 p.Asp256Asn Uncertain significance Single submitter
- TSSK2 p.Asp308Asn Uncertain significance Single submitter
- TSSK2 p.Asp312Ala Uncertain significance Single submitter
- TSSK2 p.Asp345Asn Uncertain significance Single submitter
- TSSK2 p.Asp44Asn Uncertain significance Single submitter
- TSSK2 p.Cys297Arg Uncertain significance Single submitter
- TSSK2 p.Glu288Asp Uncertain significance Single submitter
- TSSK2 p.Glu328Lys Uncertain significance Single submitter
- TSSK2 p.Gly289Ala Uncertain significance Single submitter
- TSSK2 p.Gly350Arg Uncertain significance Single submitter
- TSSK2 p.Gly70Ser Uncertain significance Single submitter
- TSSK2 p.His109Arg Uncertain significance Single submitter
- TSSK2 p.His346Arg Uncertain significance Single submitter
- TSSK2 p.Ile13Val Uncertain significance Single submitter
- TSSK2 p.Ile42Thr Uncertain significance Single submitter
- TSSK2 p.Ile63Val Uncertain significance Single submitter
- TSSK2 p.Ile73Thr Uncertain significance Single submitter
- TSSK2 p.Ile88Val Uncertain significance Single submitter
- TSSK2 p.Leu142Val Uncertain significance Single submitter
- TSSK2 p.Leu248Phe Uncertain significance Single submitter
- TSSK2 p.Lys173Thr Uncertain significance Single submitter
- TSSK2 p.Lys298Arg Uncertain significance Single submitter
- TSSK2 p.Lys41Glu Uncertain significance Single submitter
- TSSK2 p.Met61Val Uncertain significance Single submitter
- TSSK2 p.Ser122Phe Uncertain significance Single submitter
- TSSK2 p.Ser270Leu Uncertain significance Single submitter
- TSSK2 p.Ser341Tyr Uncertain significance Single submitter
- TSSK2 p.Thr66Asn Uncertain significance Single submitter
- TSSK2 p.Tyr181His Uncertain significance Single submitter
- TSSK2 p.Tyr216Cys Uncertain significance Single submitter
- TSSK2 p.Val124Ile Uncertain significance Single submitter
- TSSK2 p.Val133Ile Uncertain significance Single submitter
- TSSK2 p.Val14Ile Uncertain significance Single submitter
- TSSK2 p.Val204Met Uncertain significance Single submitter
- TSSK2 p.Val353Met Uncertain significance Single submitter
- TSSK2 p.Val53Ala Uncertain significance Single submitter
- TSSK2 p.Val94Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- TSSK2 p.Arg163Gln Uncertain significance Single submitter
- TSSK2 p.Arg310Trp Uncertain significance Single submitter
- TSSK2 p.Arg45Pro Uncertain significance Single submitter
- TSSK2 p.Arg45Ser Uncertain significance Single submitter
- TSSK2 p.Cys211Tyr Uncertain significance Single submitter
- TSSK2 p.Gln188His Uncertain significance Single submitter
- TSSK2 p.Leu267Phe Uncertain significance Single submitter
- TSSK2 p.Phe52Leu Uncertain significance Single submitter
- TSSK2 p.Tyr192Ser Uncertain significance Single submitter
All TSSK2 variants
Likely benign 3
- p.Asp308Glu Single submitter
- p.Leu305Ser Single submitter
- p.Pro236= Single submitter
Uncertain significance 61
- p.Arg118Gln Single submitter ⚠
- p.Arg160Cys Single submitter ⚠
- p.Arg160His Single submitter ⚠
- p.Arg163Gln Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg310Gly Single submitter ⚠
- p.Arg310Trp Single submitter ⚠
- p.Arg322Gln Single submitter ⚠
- p.Arg322Leu Single submitter ⚠
- p.Arg33His Single submitter ⚠
- p.Arg45Cys Single submitter ⚠
- p.Arg45Pro Single submitter ⚠
- p.Arg45Ser Single submitter ⚠
- p.Asn37Asp Single submitter ⚠
- p.Asn68Ser Single submitter ⚠
- p.Asp220Asn Single submitter ⚠
- p.Asp256Asn Single submitter ⚠
- p.Asp308Asn Single submitter ⚠
- p.Asp312Ala Single submitter ⚠
- p.Asp345Asn Single submitter ⚠
- p.Asp44Asn Single submitter ⚠
- p.Cys211Tyr Single submitter ⚠
- p.Cys297Arg Single submitter ⚠
- p.Gln188His Single submitter ⚠
- p.Glu288Asp Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Gly289Ala Single submitter ⚠
- p.Gly350Arg Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Gly84Arg Single submitter
- p.His109Arg Single submitter ⚠
- p.His346Arg Single submitter ⚠
- p.Ile13Val Single submitter ⚠
- p.Ile42Thr Single submitter ⚠
- p.Ile63Val Single submitter ⚠
- p.Ile73Thr Single submitter ⚠
- p.Ile88Val Single submitter ⚠
- p.Leu142Val Single submitter ⚠
- p.Leu248Phe Single submitter ⚠
- p.Leu267Phe Single submitter ⚠
- p.Lys173Thr Single submitter ⚠
- p.Lys298Arg Single submitter ⚠
- p.Lys41Glu Single submitter ⚠
- p.Met61Val Single submitter ⚠
- p.Phe52Leu Single submitter ⚠
- p.Pro58Arg Single submitter
- p.Pro58Thr Single submitter
- p.Ser122Phe Single submitter ⚠
- p.Ser270Leu Single submitter ⚠
- p.Ser341Tyr Single submitter ⚠
- p.Thr66Asn Single submitter ⚠
- p.Tyr181His Single submitter ⚠
- p.Tyr192Ser Single submitter ⚠
- p.Tyr216Cys Single submitter ⚠
- p.Val124Ile Single submitter ⚠
- p.Val133Ile Single submitter ⚠
- p.Val14Ile Single submitter ⚠
- p.Val204Met Single submitter ⚠
- p.Val353Met Single submitter ⚠
- p.Val53Ala Single submitter ⚠
- p.Val94Ile Single submitter ⚠