SLC6A7 — 89 ClinVar variants
All ClinVar germline SLC6A7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
3 Benign · 86 Uncertain significance
Full SLC6A7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC6A7 p.Ala247Thr Uncertain significance Single submitter
- SLC6A7 p.Ala331Thr Uncertain significance Single submitter
- SLC6A7 p.Ala500Val Uncertain significance Single submitter
- SLC6A7 p.Ala552Val Uncertain significance Single submitter
- SLC6A7 p.Arg196His Uncertain significance Single submitter
- SLC6A7 p.Arg214Cys Uncertain significance Single submitter
- SLC6A7 p.Arg214His Uncertain significance Single submitter
- SLC6A7 p.Arg321Gly Uncertain significance Single submitter
- SLC6A7 p.Arg37Pro Uncertain significance Single submitter
- SLC6A7 p.Arg420Trp Uncertain significance Single submitter
- SLC6A7 p.Arg475Trp Uncertain significance Single submitter
- SLC6A7 p.Asn176Lys Uncertain significance Single submitter
- SLC6A7 p.Asn70Lys Uncertain significance Single submitter
- SLC6A7 p.Asp28Glu Uncertain significance Single submitter
- SLC6A7 p.Asp28His Uncertain significance Single submitter
- SLC6A7 p.Cys157Gly Uncertain significance Single submitter
- SLC6A7 p.Gln205Pro Uncertain significance Single submitter
- SLC6A7 p.Gln278His Uncertain significance Single submitter
- SLC6A7 p.Glu191Lys Uncertain significance Single submitter
- SLC6A7 p.Glu525Lys Uncertain significance Single submitter
- SLC6A7 p.Gly104Arg Uncertain significance Single submitter
- SLC6A7 p.Gly208Asp Uncertain significance Single submitter
- SLC6A7 p.Gly438Glu Uncertain significance Single submitter
- SLC6A7 p.His487Pro Uncertain significance Single submitter
- SLC6A7 p.His487Tyr Uncertain significance Single submitter
- SLC6A7 p.Ile232Asn Uncertain significance Single submitter
- SLC6A7 p.Ile440Thr Uncertain significance Single submitter
- SLC6A7 p.Leu128Phe Uncertain significance Single submitter
- SLC6A7 p.Leu217Phe Uncertain significance Single submitter
- SLC6A7 p.Leu366Gln Uncertain significance Single submitter
- SLC6A7 p.Leu366Pro Uncertain significance Single submitter
- SLC6A7 p.Leu4Phe Uncertain significance Single submitter
- SLC6A7 p.Lys3Arg Uncertain significance Single submitter
- SLC6A7 p.Lys3Gln Uncertain significance Single submitter
- SLC6A7 p.Met391Val Uncertain significance Single submitter
- SLC6A7 p.Met434Val Uncertain significance Single submitter
- SLC6A7 p.Met488Ile Uncertain significance Single submitter
- SLC6A7 p.Met554Leu Uncertain significance Single submitter
- SLC6A7 p.Met82Thr Uncertain significance Single submitter
- SLC6A7 p.Phe100Leu Uncertain significance Single submitter
- SLC6A7 p.Phe115Ser Uncertain significance Single submitter
- SLC6A7 p.Phe273Leu Uncertain significance Single submitter
- SLC6A7 p.Pro180Ala Uncertain significance Single submitter
- SLC6A7 p.Pro250Ala Uncertain significance Single submitter
- SLC6A7 p.Pro532Leu Uncertain significance Single submitter
- SLC6A7 p.Ser102Ile Uncertain significance Single submitter
- SLC6A7 p.Thr276Asn Uncertain significance Single submitter
- SLC6A7 p.Thr469Met Uncertain significance Single submitter
- SLC6A7 p.Thr509Met Uncertain significance Single submitter
- SLC6A7 p.Tyr244Cys Uncertain significance Single submitter
- SLC6A7 p.Val243Gly Uncertain significance Single submitter
- SLC6A7 p.Val259Phe Uncertain significance Single submitter
- SLC6A7 p.Val27Ile Uncertain significance Single submitter
- SLC6A7 p.Val326Ile Uncertain significance Single submitter
- SLC6A7 p.Val354Met Uncertain significance Single submitter
- SLC6A7 p.Val370Ile Uncertain significance Single submitter
- SLC6A7 p.Val432Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- SLC6A7 p.Ala107Val Uncertain significance Single submitter
- SLC6A7 p.Ala138Thr Uncertain significance Single submitter
- SLC6A7 p.Ala224Val Uncertain significance Single submitter
- SLC6A7 p.Ala360Val Uncertain significance Single submitter
- SLC6A7 p.Arg214Ser Uncertain significance Single submitter
- SLC6A7 p.Arg481Ser Uncertain significance Single submitter
- SLC6A7 p.Arg530Cys Uncertain significance Single submitter
- SLC6A7 p.Arg66Gln Uncertain significance Single submitter
- SLC6A7 p.Gly235Ser Uncertain significance Single submitter
- SLC6A7 p.Gly302Asp Uncertain significance Single submitter
- SLC6A7 p.Ile201Thr Uncertain significance Single submitter
- SLC6A7 p.Ile51Thr Uncertain significance Single submitter
- SLC6A7 p.Leu503Pro Uncertain significance Single submitter
- SLC6A7 p.Phe249Leu Uncertain significance Single submitter
- SLC6A7 p.Pro355Leu Uncertain significance Single submitter
- SLC6A7 p.Thr327Ile Uncertain significance Single submitter
- SLC6A7 p.Thr406Asn Uncertain significance Single submitter
- SLC6A7 p.Val140Met Uncertain significance Single submitter
- SLC6A7 p.Val301Met Uncertain significance Single submitter
- SLC6A7 p.Val344Met Uncertain significance Single submitter
- SLC6A7 p.Val473Met Uncertain significance Single submitter
All SLC6A7 variants
Uncertain significance 86
- p.Ala107Val Single submitter ⚠
- p.Ala138Thr Single submitter ⚠
- p.Ala146Thr Single submitter
- p.Ala224Val Single submitter ⚠
- p.Ala247Thr Single submitter ⚠
- p.Ala331Thr Single submitter ⚠
- p.Ala360Val Single submitter ⚠
- p.Ala500Val Single submitter ⚠
- p.Ala552Val Single submitter ⚠
- p.Ala67Val Single submitter
- p.Arg196His Single submitter ⚠
- p.Arg214Cys Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg214Ser Single submitter ⚠
- p.Arg321Gly Single submitter ⚠
- p.Arg37Pro Single submitter ⚠
- p.Arg420Trp Single submitter ⚠
- p.Arg475Trp Single submitter ⚠
- p.Arg481Ser Single submitter ⚠
- p.Arg530Cys Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Asn176Lys Single submitter ⚠
- p.Asn70Lys Single submitter ⚠
- p.Asp28Glu Single submitter ⚠
- p.Asp28His Single submitter ⚠
- p.Cys157Gly Single submitter ⚠
- p.Gln205Pro Single submitter ⚠
- p.Gln278His Single submitter ⚠
- p.Glu191Lys Single submitter ⚠
- p.Glu525Lys Single submitter ⚠
- p.Gly104Arg Single submitter ⚠
- p.Gly208Asp Single submitter ⚠
- p.Gly235Ser Single submitter ⚠
- p.Gly302Asp Single submitter ⚠
- p.Gly438Glu Single submitter ⚠
- p.Gly543Ser Single submitter
- p.His487Pro Single submitter ⚠
- p.His487Tyr Single submitter ⚠
- p.Ile201Thr Single submitter ⚠
- p.Ile232Asn Single submitter ⚠
- p.Ile440Thr Single submitter ⚠
- p.Ile51Thr Single submitter ⚠
- p.Leu128Phe Single submitter ⚠
- p.Leu144Phe Single submitter
- p.Leu217Phe Single submitter ⚠
- p.Leu366Gln Single submitter ⚠
- p.Leu366Pro Single submitter ⚠
- p.Leu441Val Single submitter
- p.Leu4Phe Single submitter ⚠
- p.Leu503Pro Single submitter ⚠
- p.Lys3Arg Single submitter ⚠
- p.Lys3Gln Single submitter ⚠
- p.Met391Val Single submitter ⚠
- p.Met434Val Single submitter ⚠
- p.Met488Ile Single submitter ⚠
- p.Met554Leu Single submitter ⚠
- p.Met82Thr Single submitter ⚠
- p.Phe100Leu Single submitter ⚠
- p.Phe115Ser Single submitter ⚠
- p.Phe249Leu Single submitter ⚠
- p.Phe273Leu Single submitter ⚠
- p.Pro180Ala Single submitter ⚠
- p.Pro250Ala Single submitter ⚠
- p.Pro355Leu Single submitter ⚠
- p.Pro532Leu Single submitter ⚠
- p.Ser102Ile Single submitter ⚠
- p.Ser285Cys Single submitter
- p.Thr276Asn Single submitter ⚠
- p.Thr327Ile Single submitter ⚠
- p.Thr406Asn Single submitter ⚠
- p.Thr469Met Single submitter ⚠
- p.Thr509Met Single submitter ⚠
- p.Tyr244Cys Single submitter ⚠
- p.Val140Met Single submitter ⚠
- p.Val198Ile Single submitter
- p.Val243Gly Single submitter ⚠
- p.Val259Phe Single submitter ⚠
- p.Val27Ile Single submitter ⚠
- p.Val301Met Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val344Met Single submitter ⚠
- p.Val354Met Single submitter ⚠
- p.Val370Ile Single submitter ⚠
- p.Val408Leu Single submitter
- p.Val432Met Single submitter ⚠
- p.Val473Met Single submitter ⚠