SLC5A11 — 85 ClinVar variants
All ClinVar germline SLC5A11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
4 Likely benign · 81 Uncertain significance
Full SLC5A11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC5A11 p.Ala241Thr Uncertain significance Single submitter
- SLC5A11 p.Ala360Thr Uncertain significance Single submitter
- SLC5A11 p.Ala360Val Uncertain significance Single submitter
- SLC5A11 p.Ala620Ser Uncertain significance Single submitter
- SLC5A11 p.Arg135His Uncertain significance Single submitter
- SLC5A11 p.Arg411Trp Uncertain significance Single submitter
- SLC5A11 p.Arg505Gln Uncertain significance Single submitter
- SLC5A11 p.Asn582Lys Uncertain significance Single submitter
- SLC5A11 p.Asp14Glu Uncertain significance Single submitter
- SLC5A11 p.Gln12Arg Uncertain significance Single submitter
- SLC5A11 p.Gln294Arg Uncertain significance Single submitter
- SLC5A11 p.Gln628Arg Uncertain significance Single submitter
- SLC5A11 p.Glu367Asp Uncertain significance Single submitter
- SLC5A11 p.Glu596Lys Uncertain significance Single submitter
- SLC5A11 p.Gly479Asp Uncertain significance Single submitter
- SLC5A11 p.Gly491Ser Uncertain significance Single submitter
- SLC5A11 p.Gly583Arg Uncertain significance Single submitter
- SLC5A11 p.Gly672Ser Uncertain significance Single submitter
- SLC5A11 p.Gly80Arg Uncertain significance Single submitter
- SLC5A11 p.His259Pro Uncertain significance Single submitter
- SLC5A11 p.His560Arg Uncertain significance Single submitter
- SLC5A11 p.Ile139Phe Uncertain significance Single submitter
- SLC5A11 p.Ile280Val Uncertain significance Single submitter
- SLC5A11 p.Leu364Phe Uncertain significance Single submitter
- SLC5A11 p.Leu579Arg Uncertain significance Single submitter
- SLC5A11 p.Lys22Met Uncertain significance Single submitter
- SLC5A11 p.Lys51Arg Uncertain significance Single submitter
- SLC5A11 p.Lys613Thr Uncertain significance Single submitter
- SLC5A11 p.Met328Val Uncertain significance Single submitter
- SLC5A11 p.Met386Arg Uncertain significance Single submitter
- SLC5A11 p.Met584Ile Uncertain significance Single submitter
- SLC5A11 p.Pro264Leu Uncertain significance Single submitter
- SLC5A11 p.Pro461Leu Uncertain significance Single submitter
- SLC5A11 p.Pro636Leu Uncertain significance Single submitter
- SLC5A11 p.Ser395Arg Uncertain significance Single submitter
- SLC5A11 p.Ser589Arg Uncertain significance Single submitter
- SLC5A11 p.Ser73Phe Uncertain significance Single submitter
- SLC5A11 p.Thr192Met Uncertain significance Single submitter
- SLC5A11 p.Thr555Ile Uncertain significance Single submitter
- SLC5A11 p.Val274Phe Uncertain significance Single submitter
- SLC5A11 p.Val291Met Uncertain significance Single submitter
- SLC5A11 p.Val502Met Uncertain significance Single submitter
- SLC5A11 p.Val563Met Uncertain significance Single submitter
- SLC5A11 p.Val618Leu Uncertain significance Single submitter
- SLC5A11 p.Val652Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- SLC5A11 p.Ala441Asp Uncertain significance Single submitter
- SLC5A11 p.Arg254Gln Uncertain significance Single submitter
- SLC5A11 p.Arg409Gln Uncertain significance Single submitter
- SLC5A11 p.Asp498Gly Uncertain significance Single submitter
- SLC5A11 p.Ile292Met Uncertain significance Single submitter
- SLC5A11 p.Pro546Thr Uncertain significance Single submitter
- SLC5A11 p.Ser645Phe Uncertain significance Single submitter
- SLC5A11 p.Thr208Met Uncertain significance Single submitter
- SLC5A11 p.Thr288Met Uncertain significance Single submitter
All SLC5A11 variants
Likely benign 4
- c.427A>G Single submitter
- p.Ser486Leu Single submitter
- p.Ser592_Val593insSer Single submitter
- p.Val274Ile Single submitter
Uncertain significance 81
- c.1135G>T Single submitter
- c.1333G>A Single submitter
- c.1482G>T Single submitter
- c.1519G>A Single submitter
- c.1631A>C Single submitter
- c.1920A>C Single submitter
- c.1948C>T Single submitter
- c.1990G>A Single submitter
- c.26A>G Single submitter
- c.376A>G Single submitter
- c.43C>T Single submitter
- c.479T>C Single submitter
- c.542T>C Single submitter
- c.674C>T Single submitter
- c.687G>A Single submitter
- c.785G>A Single submitter
- c.815C>T Single submitter
- c.82G>C Single submitter
- c.886A>C Single submitter
- c.911A>G Single submitter
- c.970G>T Single submitter
- c.992G>A Single submitter
- p.Ala241Thr Single submitter ⚠
- p.Ala360Thr Single submitter ⚠
- p.Ala360Val Single submitter ⚠
- p.Ala441Asp Single submitter ⚠
- p.Ala463Val Single submitter
- p.Ala620Ser Single submitter ⚠
- p.Arg135His Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg409Gln Single submitter ⚠
- p.Arg411Trp Single submitter ⚠
- p.Arg505Gln Single submitter ⚠
- p.Asn582Lys Single submitter ⚠
- p.Asp14Glu Single submitter ⚠
- p.Asp256Asn Single submitter
- p.Asp498Gly Single submitter ⚠
- p.Gln12Arg Single submitter ⚠
- p.Gln294Arg Single submitter ⚠
- p.Gln628Arg Single submitter ⚠
- p.Glu367Asp Single submitter ⚠
- p.Glu596Lys Single submitter ⚠
- p.Gly479Asp Single submitter ⚠
- p.Gly491Ser Single submitter ⚠
- p.Gly583Arg Single submitter ⚠
- p.Gly672Ser Single submitter ⚠
- p.Gly80Arg Single submitter ⚠
- p.His259Pro Single submitter ⚠
- p.His560Arg Single submitter ⚠
- p.Ile139Phe Single submitter ⚠
- p.Ile280Val Single submitter ⚠
- p.Ile292Met Single submitter ⚠
- p.Ile332Ser Single submitter
- p.Leu364Phe Single submitter ⚠
- p.Leu579Arg Single submitter ⚠
- p.Lys22Met Single submitter ⚠
- p.Lys51Arg Single submitter ⚠
- p.Lys613Thr Single submitter ⚠
- p.Met328Val Single submitter ⚠
- p.Met386Arg Single submitter ⚠
- p.Met584Ile Single submitter ⚠
- p.Pro264Leu Single submitter ⚠
- p.Pro461Leu Single submitter ⚠
- p.Pro513Leu Single submitter
- p.Pro546Thr Single submitter ⚠
- p.Pro636Leu Single submitter ⚠
- p.Ser395Arg Single submitter ⚠
- p.Ser589Arg Single submitter ⚠
- p.Ser645Phe Single submitter ⚠
- p.Ser73Phe Single submitter ⚠
- p.Thr192Met Single submitter ⚠
- p.Thr208Met Single submitter ⚠
- p.Thr288Met Single submitter ⚠
- p.Thr532Ile Single submitter
- p.Thr555Ile Single submitter ⚠
- p.Val274Phe Single submitter ⚠
- p.Val291Met Single submitter ⚠
- p.Val502Met Single submitter ⚠
- p.Val563Met Single submitter ⚠
- p.Val618Leu Single submitter ⚠
- p.Val652Ala Single submitter ⚠