MATK — 67 ClinVar variants
All ClinVar germline MATK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Benign · 6 Likely benign · 60 Uncertain significance
Full MATK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MATK p.Ala113Ser Uncertain significance Single submitter
- MATK p.Ala132Ser Uncertain significance Single submitter
- MATK p.Ala150Thr Uncertain significance Single submitter
- MATK p.Ala327Ser Uncertain significance Single submitter
- MATK p.Ala466Thr Uncertain significance Single submitter
- MATK p.Arg151Cys Uncertain significance Single submitter
- MATK p.Arg164His Uncertain significance Single submitter
- MATK p.Arg170Cys Uncertain significance Single submitter
- MATK p.Arg212Gln Uncertain significance Single submitter
- MATK p.Arg212Trp Uncertain significance Single submitter
- MATK p.Arg319Gln Uncertain significance Single submitter
- MATK p.Arg422Trp Uncertain significance Single submitter
- MATK p.Arg61His Uncertain significance Single submitter
- MATK p.Arg70Cys Uncertain significance Single submitter
- MATK p.Arg70His Uncertain significance Single submitter
- MATK p.Asp495Glu Uncertain significance Single submitter
- MATK p.Cys187Ser Uncertain significance Single submitter
- MATK p.Cys449Arg Uncertain significance Single submitter
- MATK p.Gln96Arg Uncertain significance Single submitter
- MATK p.Glu394Lys Uncertain significance Single submitter
- MATK p.Gly215Arg Uncertain significance Single submitter
- MATK p.Gly299Glu Uncertain significance Single submitter
- MATK p.Gly310Ser Uncertain significance Single submitter
- MATK p.Gly498Ser Uncertain significance Single submitter
- MATK p.His152Pro Uncertain significance Single submitter
- MATK p.His177Asn Uncertain significance Single submitter
- MATK p.Ile295Asn Uncertain significance Single submitter
- MATK p.Ile358Val Uncertain significance Single submitter
- MATK p.Leu67Pro Uncertain significance Single submitter
- MATK p.Lys379Met Uncertain significance Single submitter
- MATK p.Lys71Thr Uncertain significance Single submitter
- MATK p.Phe315Cys Uncertain significance Single submitter
- MATK p.Phe315Leu Uncertain significance Single submitter
- MATK p.Pro470Ser Uncertain significance Single submitter
- MATK p.Pro507Ser Uncertain significance Single submitter
- MATK p.Thr236Ser Uncertain significance Single submitter
- MATK p.Val157Asp Uncertain significance Single submitter
- MATK p.Val336Met Uncertain significance Single submitter
- MATK p.Val388Ile Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- MATK p.Ala496Asp Uncertain significance Single submitter
- MATK p.Arg174His Uncertain significance Single submitter
- MATK p.Arg290Cys Uncertain significance Single submitter
- MATK p.Arg422Gln Uncertain significance Single submitter
- MATK p.Arg472Cys Uncertain significance Single submitter
- MATK p.Arg472His Uncertain significance Single submitter
- MATK p.Arg480Trp Uncertain significance Single submitter
- MATK p.Asn83Ser Likely benign Single submitter
- MATK p.Asp175Asn Uncertain significance Single submitter
- MATK p.Gln240Arg Uncertain significance Single submitter
- MATK p.Glu481Asp Uncertain significance Single submitter
- MATK p.Gly399Arg Uncertain significance Single submitter
- MATK p.Ile167Thr Uncertain significance Single submitter
- MATK p.Leu117Phe Uncertain significance Single submitter
- MATK p.Pro153Ala Uncertain significance Single submitter
- MATK p.Ser161Asn Uncertain significance Single submitter
- MATK p.Val166Ile Uncertain significance Single submitter
- MATK p.Val307Met Uncertain significance Single submitter
- MATK p.Val336Ala Uncertain significance Single submitter
- MATK p.Val455Ile Uncertain significance Single submitter
- MATK p.Val74Met Uncertain significance Single submitter
- MATK p.Val75Ile Uncertain significance Single submitter
All MATK variants
Benign 1
- p.Pro465= Multiple submitters
Likely benign 6
- p.His34= Multiple submitters
- p.Ala113Thr Single submitter
- p.Ala337= Single submitter
- p.Asn83Ser Single submitter ⚠
- p.Glu286Lys Single submitter
- p.Pro153= Single submitter
Uncertain significance 60
- p.Ala113Ser Single submitter ⚠
- p.Ala132Ser Single submitter ⚠
- p.Ala150Thr Single submitter ⚠
- p.Ala327Ser Single submitter ⚠
- p.Ala466Thr Single submitter ⚠
- p.Ala496Asp Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg164His Single submitter ⚠
- p.Arg170Cys Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg290Cys Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg422Gln Single submitter ⚠
- p.Arg422Trp Single submitter ⚠
- p.Arg472Cys Single submitter ⚠
- p.Arg472His Single submitter ⚠
- p.Arg480Trp Single submitter ⚠
- p.Arg61His Single submitter ⚠
- p.Arg70Cys Single submitter ⚠
- p.Arg70His Single submitter ⚠
- p.Asp175Asn Single submitter ⚠
- p.Asp495Glu Single submitter ⚠
- p.Cys187Ser Single submitter ⚠
- p.Cys449Arg Single submitter ⚠
- p.Gln240Arg Single submitter ⚠
- p.Gln96Arg Single submitter ⚠
- p.Glu394Lys Single submitter ⚠
- p.Glu481Asp Single submitter ⚠
- p.Gly215Arg Single submitter ⚠
- p.Gly299Glu Single submitter ⚠
- p.Gly310Ser Single submitter ⚠
- p.Gly399Arg Single submitter ⚠
- p.Gly498Ser Single submitter ⚠
- p.His152Pro Single submitter ⚠
- p.His177Asn Single submitter ⚠
- p.Ile167Thr Single submitter ⚠
- p.Ile295Asn Single submitter ⚠
- p.Ile358Val Single submitter ⚠
- p.Leu117Phe Single submitter ⚠
- p.Leu67Pro Single submitter ⚠
- p.Lys379Met Single submitter ⚠
- p.Lys71Thr Single submitter ⚠
- p.Phe315Cys Single submitter ⚠
- p.Phe315Leu Single submitter ⚠
- p.Pro153Ala Single submitter ⚠
- p.Pro470Ser Single submitter ⚠
- p.Pro507Ser Single submitter ⚠
- p.Ser161Asn Single submitter ⚠
- p.Thr236Ser Single submitter ⚠
- p.Val157Asp Single submitter ⚠
- p.Val166Ile Single submitter ⚠
- p.Val307Met Single submitter ⚠
- p.Val336Ala Single submitter ⚠
- p.Val336Met Single submitter ⚠
- p.Val388Ile Single submitter ⚠
- p.Val455Ile Single submitter ⚠
- p.Val74Met Single submitter ⚠
- p.Val75Ile Single submitter ⚠