MKNK1 — 54 ClinVar variants
All ClinVar germline MKNK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
4 Likely benign · 50 Uncertain significance
Full MKNK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MKNK1 c.-5T>G Uncertain significance Single submitter
- MKNK1 c.-9C>A Uncertain significance Single submitter
- MKNK1 p.Ala135Thr Uncertain significance Single submitter
- MKNK1 p.Ala144Thr Uncertain significance Single submitter
- MKNK1 p.Ala72Gly Uncertain significance Single submitter
- MKNK1 p.Arg157His Uncertain significance Single submitter
- MKNK1 p.Arg23Gln Uncertain significance Single submitter
- MKNK1 p.Arg390His Uncertain significance Single submitter
- MKNK1 p.Arg395Pro Uncertain significance Single submitter
- MKNK1 p.Asn131Ser Uncertain significance Single submitter
- MKNK1 p.Asp141Gly Uncertain significance Single submitter
- MKNK1 p.Gln308Arg Uncertain significance Single submitter
- MKNK1 p.Gln361Glu Uncertain significance Single submitter
- MKNK1 p.Glu327Ala Uncertain significance Single submitter
- MKNK1 p.Glu5Lys Uncertain significance Single submitter
- MKNK1 p.Gly185Glu Uncertain significance Single submitter
- MKNK1 p.Gly250Val Uncertain significance Single submitter
- MKNK1 p.Gly329Ala Uncertain significance Single submitter
- MKNK1 p.Gly401Asp Uncertain significance Single submitter
- MKNK1 p.Gly403Val Uncertain significance Single submitter
- MKNK1 p.Ile298Thr Uncertain significance Single submitter
- MKNK1 p.Leu115Trp Uncertain significance Single submitter
- MKNK1 p.Leu165Val Uncertain significance Single submitter
- MKNK1 p.Leu302Pro Uncertain significance Single submitter
- MKNK1 p.Met241Thr Uncertain significance Single submitter
- MKNK1 p.Phe101Leu Uncertain significance Single submitter
- MKNK1 p.Pro408Leu Uncertain significance Single submitter
- MKNK1 p.Pro408Ser Uncertain significance Single submitter
- MKNK1 p.Ser168Phe Uncertain significance Single submitter
- MKNK1 p.Thr193Ile Uncertain significance Single submitter
- MKNK1 p.Thr193Ser Uncertain significance Single submitter
- MKNK1 p.Thr219Met Uncertain significance Single submitter
- MKNK1 p.Val236Met Uncertain significance Single submitter
- MKNK1 p.Val266Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- MKNK1 p.Arg140Trp Uncertain significance Single submitter
- MKNK1 p.Arg260Trp Uncertain significance Single submitter
- MKNK1 p.Arg394Lys Uncertain significance Single submitter
- MKNK1 p.Asn92Lys Uncertain significance Single submitter
- MKNK1 p.Glu262Lys Uncertain significance Single submitter
- MKNK1 p.Glu45Ala Uncertain significance Single submitter
- MKNK1 p.Leu86Val Uncertain significance Single submitter
- MKNK1 p.Ser77Arg Uncertain significance Single submitter
- MKNK1 p.Tyr245Cys Uncertain significance Single submitter
- MKNK1 p.Val321Ala Uncertain significance Single submitter
- MKNK1 p.Val55Met Uncertain significance Single submitter
All MKNK1 variants
Likely benign 4
- c.199-7C>T Single submitter
- p.Arg14Lys Single submitter
- p.Gly235= Single submitter
- p.Phe348= Single submitter
Uncertain significance 50
- c.-5T>G Single submitter ⚠
- c.-9C>A Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala306Gly Single submitter
- p.Ala72Gly Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg157His Single submitter ⚠
- p.Arg23Gln Single submitter ⚠
- p.Arg260Trp Single submitter ⚠
- p.Arg390His Single submitter ⚠
- p.Arg394Lys Single submitter ⚠
- p.Arg395Pro Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn92Lys Single submitter ⚠
- p.Asp141Gly Single submitter ⚠
- p.Gln308Arg Single submitter ⚠
- p.Gln361Glu Single submitter ⚠
- p.Glu262Lys Single submitter ⚠
- p.Glu327Ala Single submitter ⚠
- p.Glu45Ala Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Gly185Glu Single submitter ⚠
- p.Gly250Val Single submitter ⚠
- p.Gly253Arg Single submitter
- p.Gly329Ala Single submitter ⚠
- p.Gly401Asp Single submitter ⚠
- p.Gly403Val Single submitter ⚠
- p.Ile298Thr Single submitter ⚠
- p.Leu115Trp Single submitter ⚠
- p.Leu165Val Single submitter ⚠
- p.Leu302Pro Single submitter ⚠
- p.Leu86Val Single submitter ⚠
- p.Met241Thr Single submitter ⚠
- p.Phe101Leu Single submitter ⚠
- p.Phe224Ser Single submitter
- p.Pro385Leu Single submitter
- p.Pro408Leu Single submitter ⚠
- p.Pro408Ser Single submitter ⚠
- p.Ser168Phe Single submitter ⚠
- p.Ser77Arg Single submitter ⚠
- p.Thr193Ile Single submitter ⚠
- p.Thr193Ser Single submitter ⚠
- p.Thr219Met Single submitter ⚠
- p.Tyr245Cys Single submitter ⚠
- p.Tyr48Cys Single submitter
- p.Val236Met Single submitter ⚠
- p.Val266Met Single submitter ⚠
- p.Val321Ala Single submitter ⚠
- p.Val55Met Single submitter ⚠