MDK — 9 ClinVar variants
All ClinVar germline MDK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
9 Uncertain significance
Full MDK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MDK p.Ala20Val Uncertain significance Single submitter
- MDK p.Gly5Ser Uncertain significance Single submitter
- MDK p.Leu107Val Uncertain significance Single submitter
- MDK p.Leu9Phe Uncertain significance Single submitter
- MDK p.Lys137Arg Uncertain significance Single submitter
- MDK p.Pro33Ala Uncertain significance Single submitter
- MDK p.Thr106Ala Uncertain significance Single submitter
- MDK p.Tyr112Cys Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All MDK variants
Uncertain significance 9
- p.Ala20Val Single submitter ⚠
- p.Ala22Val Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Leu107Val Single submitter ⚠
- p.Leu9Phe Single submitter ⚠
- p.Lys137Arg Single submitter ⚠
- p.Pro33Ala Single submitter ⚠
- p.Thr106Ala Single submitter ⚠
- p.Tyr112Cys Single submitter ⚠