SLC13A2 — 89 ClinVar variants
All ClinVar germline SLC13A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
6 Likely benign · 83 Uncertain significance
Full SLC13A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC13A2 p.Ala491Thr Uncertain significance Single submitter
- SLC13A2 p.Ala518Val Uncertain significance Single submitter
- SLC13A2 p.Ala578Val Uncertain significance Single submitter
- SLC13A2 p.Ala585Thr Uncertain significance Single submitter
- SLC13A2 p.Ala585Val Uncertain significance Single submitter
- SLC13A2 p.Ala7Thr Uncertain significance Single submitter
- SLC13A2 p.Ala97Thr Uncertain significance Single submitter
- SLC13A2 p.Arg108Leu Uncertain significance Single submitter
- SLC13A2 p.Arg120Gln Uncertain significance Single submitter
- SLC13A2 p.Arg295Gln Uncertain significance Single submitter
- SLC13A2 p.Arg295Trp Uncertain significance Single submitter
- SLC13A2 p.Arg538Gln Uncertain significance Single submitter
- SLC13A2 p.Asn173Lys Uncertain significance Single submitter
- SLC13A2 p.Asn397Asp Uncertain significance Single submitter
- SLC13A2 p.Asn586Thr Uncertain significance Single submitter
- SLC13A2 p.Gln212Arg Uncertain significance Single submitter
- SLC13A2 p.Gln316Arg Uncertain significance Single submitter
- SLC13A2 p.Gln492Arg Uncertain significance Single submitter
- SLC13A2 p.Glu178Gly Uncertain significance Single submitter
- SLC13A2 p.Glu302Gln Uncertain significance Single submitter
- SLC13A2 p.Glu302Lys Uncertain significance Single submitter
- SLC13A2 p.Glu318Lys Uncertain significance Single submitter
- SLC13A2 p.Glu329Lys Uncertain significance Single submitter
- SLC13A2 p.Glu472Lys Uncertain significance Single submitter
- SLC13A2 p.Glu77Lys Uncertain significance Single submitter
- SLC13A2 p.Gly301Arg Uncertain significance Single submitter
- SLC13A2 p.His102Arg Uncertain significance Single submitter
- SLC13A2 p.His319Gln Uncertain significance Single submitter
- SLC13A2 p.His566Leu Uncertain significance Single submitter
- SLC13A2 p.Ile231Ser Uncertain significance Single submitter
- SLC13A2 p.Ile276Val Uncertain significance Single submitter
- SLC13A2 p.Ile300Asn Uncertain significance Single submitter
- SLC13A2 p.Ile459Thr Uncertain significance Single submitter
- SLC13A2 p.Ile546Thr Uncertain significance Single submitter
- SLC13A2 p.Leu253Phe Uncertain significance Single submitter
- SLC13A2 p.Leu54Pro Uncertain significance Single submitter
- SLC13A2 p.Leu562Val Uncertain significance Single submitter
- SLC13A2 p.Lys213Arg Uncertain significance Single submitter
- SLC13A2 p.Met129Thr Uncertain significance Single submitter
- SLC13A2 p.Met367Leu Uncertain significance Single submitter
- SLC13A2 p.Phe298Ser Uncertain significance Single submitter
- SLC13A2 p.Pro182Gln Uncertain significance Single submitter
- SLC13A2 p.Pro272Leu Uncertain significance Single submitter
- SLC13A2 p.Pro348Leu Uncertain significance Single submitter
- SLC13A2 p.Pro398Leu Uncertain significance Single submitter
- SLC13A2 p.Pro418Leu Uncertain significance Single submitter
- SLC13A2 p.Pro520Leu Uncertain significance Single submitter
- SLC13A2 p.Ser136Phe Uncertain significance Single submitter
- SLC13A2 p.Ser162Leu Uncertain significance Single submitter
- SLC13A2 p.Ser201Cys Uncertain significance Single submitter
- SLC13A2 p.Ser203Ala Uncertain significance Single submitter
- SLC13A2 p.Ser453Arg Uncertain significance Single submitter
- SLC13A2 p.Ser76Pro Uncertain significance Single submitter
- SLC13A2 p.Thr200Met Uncertain significance Single submitter
- SLC13A2 p.Thr392Ala Uncertain significance Single submitter
- SLC13A2 p.Thr412Met Uncertain significance Single submitter
- SLC13A2 p.Thr506Ala Uncertain significance Single submitter
- SLC13A2 p.Trp282Arg Uncertain significance Single submitter
- SLC13A2 p.Val188Gly Uncertain significance Single submitter
- SLC13A2 p.Val260Met Uncertain significance Single submitter
- SLC13A2 p.Val454Met Uncertain significance Single submitter
- SLC13A2 p.Val501Asp Uncertain significance Single submitter
- SLC13A2 p.Pro457Leu Uncertain significance No assertion criteria
Predictors split 13
The independent predictors disagree with each other — read with care.
- SLC13A2 p.Ala264Thr Uncertain significance Single submitter
- SLC13A2 p.Ala99Thr Uncertain significance Single submitter
- SLC13A2 p.Arg120Trp Uncertain significance Single submitter
- SLC13A2 p.Arg538Trp Uncertain significance Single submitter
- SLC13A2 p.Asp394Tyr Uncertain significance Single submitter
- SLC13A2 p.Glu178Lys Uncertain significance Single submitter
- SLC13A2 p.Gly371Glu Uncertain significance Single submitter
- SLC13A2 p.Ile234Phe Uncertain significance Single submitter
- SLC13A2 p.Lys84Glu Uncertain significance Single submitter
- SLC13A2 p.Met137Thr Uncertain significance Single submitter
- SLC13A2 p.Met45Val Uncertain significance Single submitter
- SLC13A2 p.Pro242Ser Uncertain significance Single submitter
- SLC13A2 p.Val131Leu Uncertain significance Single submitter
All SLC13A2 variants
Likely benign 6
- p.Ala552Thr Single submitter
- p.Arg320Lys Single submitter
- p.Asp409Asn Single submitter
- p.Pro561Thr Single submitter
- p.Val31Ile Single submitter
- p.Val73Met Single submitter
Uncertain significance 83
- c.232-51G>A Single submitter
- p.Ala264Thr Single submitter ⚠
- p.Ala491Thr Single submitter ⚠
- p.Ala518Val Single submitter ⚠
- p.Ala578Val Single submitter ⚠
- p.Ala585Thr Single submitter ⚠
- p.Ala585Val Single submitter ⚠
- p.Ala7Thr Single submitter ⚠
- p.Ala97Thr Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg108Leu Single submitter ⚠
- p.Arg120Gln Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg295Gln Single submitter ⚠
- p.Arg295Trp Single submitter ⚠
- p.Arg538Gln Single submitter ⚠
- p.Arg538Trp Single submitter ⚠
- p.Asn173Lys Single submitter ⚠
- p.Asn397Asp Single submitter ⚠
- p.Asn586Thr Single submitter ⚠
- p.Asp394Tyr Single submitter ⚠
- p.Gln212Arg Single submitter ⚠
- p.Gln316Arg Single submitter ⚠
- p.Gln492Arg Single submitter ⚠
- p.Glu178Gly Single submitter ⚠
- p.Glu178Lys Single submitter ⚠
- p.Glu302Gln Single submitter ⚠
- p.Glu302Lys Single submitter ⚠
- p.Glu318Lys Single submitter ⚠
- p.Glu329Lys Single submitter ⚠
- p.Glu472Lys Single submitter ⚠
- p.Glu77Lys Single submitter ⚠
- p.Gly301Arg Single submitter ⚠
- p.Gly371Glu Single submitter ⚠
- p.His102Arg Single submitter ⚠
- p.His319Gln Single submitter ⚠
- p.His566Leu Single submitter ⚠
- p.Ile231Ser Single submitter ⚠
- p.Ile234Phe Single submitter ⚠
- p.Ile276Val Single submitter ⚠
- p.Ile300Asn Single submitter ⚠
- p.Ile459Thr Single submitter ⚠
- p.Ile546Thr Single submitter ⚠
- p.Leu253Phe Single submitter ⚠
- p.Leu54Pro Single submitter ⚠
- p.Leu562Val Single submitter ⚠
- p.Lys213Arg Single submitter ⚠
- p.Lys84Glu Single submitter ⚠
- p.Met129Thr Single submitter ⚠
- p.Met137Thr Single submitter ⚠
- p.Met367Leu Single submitter ⚠
- p.Met45Val Single submitter ⚠
- p.Met490Thr Single submitter
- p.Met514Leu Single submitter
- p.Phe298Ser Single submitter ⚠
- p.Pro182Gln Single submitter ⚠
- p.Pro242Ser Single submitter ⚠
- p.Pro272Leu Single submitter ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro398Leu Single submitter ⚠
- p.Pro418Leu Single submitter ⚠
- p.Pro520Leu Single submitter ⚠
- p.Pro55Ser Single submitter
- p.Ser136Phe Single submitter ⚠
- p.Ser162Leu Single submitter ⚠
- p.Ser201Cys Single submitter ⚠
- p.Ser203Ala Single submitter ⚠
- p.Ser453Arg Single submitter ⚠
- p.Ser76Pro Single submitter ⚠
- p.Thr200Met Single submitter ⚠
- p.Thr392Ala Single submitter ⚠
- p.Thr412Met Single submitter ⚠
- p.Thr506Ala Single submitter ⚠
- p.Trp282Arg Single submitter ⚠
- p.Trp5Arg Single submitter
- p.Val131Leu Single submitter ⚠
- p.Val188Gly Single submitter ⚠
- p.Val260Met Single submitter ⚠
- p.Val340Met Single submitter
- p.Val454Met Single submitter ⚠
- p.Val501Asp Single submitter ⚠
- p.Glu442= No assertion criteria
- p.Pro457Leu No assertion criteria ⚠