SLC6A2 — 108 ClinVar variants
All ClinVar germline SLC6A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
1 Pathogenic · 1 Conflicting · 9 Benign · 2 Benign/Likely benign · 27 Likely benign · 68 Uncertain significance
Full SLC6A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC6A2 p.Ala211Thr Uncertain significance Single submitter
- SLC6A2 p.Ala27Glu Uncertain significance Single submitter
- SLC6A2 p.Ala360Thr Uncertain significance Single submitter
- SLC6A2 p.Ala414Val Uncertain significance Single submitter
- SLC6A2 p.Ala4Glu Uncertain significance Single submitter
- SLC6A2 p.Ala589Ser Uncertain significance Single submitter
- SLC6A2 p.Arg39Leu Uncertain significance Single submitter
- SLC6A2 p.Arg440Gln Uncertain significance Single submitter
- SLC6A2 p.Arg500Lys Uncertain significance Single submitter
- SLC6A2 p.Asn198Ser Uncertain significance Single submitter
- SLC6A2 p.Asn40Tyr Uncertain significance Single submitter
- SLC6A2 p.Asn539Thr Uncertain significance Single submitter
- SLC6A2 p.Asn555Ile Uncertain significance Single submitter
- SLC6A2 p.Asp52Tyr Uncertain significance Single submitter
- SLC6A2 p.Asp546Asn Uncertain significance Single submitter
- SLC6A2 p.Asp547Asn Uncertain significance Single submitter
- SLC6A2 p.Asp547Gly Uncertain significance Single submitter
- SLC6A2 p.Asp605Asn Uncertain significance Single submitter
- SLC6A2 p.Gln236Arg Uncertain significance Single submitter
- SLC6A2 p.Gln610Glu Uncertain significance Single submitter
-
SLC6A2 p.Glu223Asp
Uncertain significance
Single submitter
orthostatic intolerance
- SLC6A2 p.Glu223Lys Uncertain significance Single submitter
- SLC6A2 p.Glu22Gln Uncertain significance Single submitter
- SLC6A2 p.Glu597Lys Uncertain significance Single submitter
- SLC6A2 p.Gly400Arg Uncertain significance Single submitter
- SLC6A2 p.Gly491Arg Uncertain significance Single submitter
- SLC6A2 p.His228Arg Uncertain significance Single submitter
- SLC6A2 p.His441Gln Uncertain significance Single submitter
- SLC6A2 p.Ile104Met Uncertain significance Single submitter
- SLC6A2 p.Ile230Val Uncertain significance Single submitter
- SLC6A2 p.Leu190Phe Uncertain significance Single submitter
- SLC6A2 p.Leu25Phe Uncertain significance Single submitter
- SLC6A2 p.Leu284Arg Uncertain significance Single submitter
- SLC6A2 p.Leu444Phe Uncertain significance Single submitter
- SLC6A2 p.Leu578Val Uncertain significance Single submitter
- SLC6A2 p.Leu600Val Uncertain significance Single submitter
- SLC6A2 p.Lys29Arg Uncertain significance Single submitter
- SLC6A2 p.Lys29Asn Uncertain significance Single submitter
- SLC6A2 p.Met487Val Uncertain significance Single submitter
- SLC6A2 p.Pro12Leu Uncertain significance Single submitter
- SLC6A2 p.Pro183Arg Uncertain significance Single submitter
- SLC6A2 p.Pro188Leu Uncertain significance Single submitter
- SLC6A2 p.Pro392Leu Uncertain significance Single submitter
- SLC6A2 p.Ser224Asn Uncertain significance Single submitter
- SLC6A2 p.Thr402Ala Uncertain significance Single submitter
- SLC6A2 p.Thr462Ser Uncertain significance Single submitter
- SLC6A2 p.Thr580Met Uncertain significance Single submitter
- SLC6A2 p.Tyr367Phe Uncertain significance Single submitter
- SLC6A2 p.Tyr516His Uncertain significance Single submitter
- SLC6A2 p.Val244Asp Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- SLC6A2 p.Thr283Arg Benign Multiple submitters
- SLC6A2 p.Arg216His Uncertain significance Single submitter
- SLC6A2 p.Arg301His Uncertain significance Single submitter
- SLC6A2 p.Gly231Ser Uncertain significance Single submitter
- SLC6A2 p.Met368Thr Uncertain significance Single submitter
- SLC6A2 p.Met421Ile Uncertain significance Single submitter
- SLC6A2 p.Phe329Leu Uncertain significance Single submitter
- SLC6A2 p.Phe528Leu Uncertain significance Single submitter
- SLC6A2 p.Val276Met Uncertain significance Single submitter
- SLC6A2 p.Val601Leu Conflicting Single submitter
All SLC6A2 variants
Pathogenic 1
- p.Ala457Pro No assertion criteria orthostatic intolerance
Conflicting classifications of pathogenicity 1
- p.Val601Leu Single submitter ⚠
Benign 9
- c.1389+9G>A Multiple submitters
- p.Arg341= Multiple submitters
- p.Thr283Arg Multiple submitters ⚠
- p.Thr429= Multiple submitters
- p.Thr99Ile Multiple submitters
- p.Val245Ile Multiple submitters
- c.274+4030G>C Single submitter
- c.274+4288C>G Single submitter
- p.Arg39= Single submitter
Benign/Likely benign 2
- p.Leu456= Multiple submitters
- p.Phe609Tyr Multiple submitters
Likely benign 27
- p.Asn7Lys Multiple submitters
- c.1023-18C>T Single submitter
- c.1147+4G>A Single submitter
- c.1490-12G>A Single submitter
- c.1591-8A>G Single submitter
- c.1830+17C>T Single submitter
- c.407-65C>T Single submitter
- c.407-90T>G Single submitter
- c.644+8A>G Single submitter
- p.Asn15Ser Single submitter
- p.Asn40= Single submitter
- p.Gly281= Single submitter
- p.Ile142= Single submitter
- p.Ile230= Single submitter
- p.Ile376= Single submitter
- p.Leu415= Single submitter
- p.Leu611= Single submitter
- p.Lys37= Single submitter
- p.Pro183= Single submitter
- p.Ser194= Single submitter
- p.Thr208= Single submitter
- p.Thr470= Single submitter
- p.Tyr467= Single submitter
- p.Val282Ile Single submitter
- p.Val410Ile Single submitter
- c.407-29C>T No assertion criteria SLC6A2-related disorder
- p.Leu344= No assertion criteria SLC6A2-related disorder
Uncertain significance 68
- p.Val273Met Multiple submitters orthostatic intolerance
- c.407-10C>T Single submitter orthostatic intolerance
- c.*2901C>T Single submitter orthostatic intolerance
- c.*414_*415dup Single submitter
- p.Ala211Thr Single submitter ⚠
- p.Ala27Glu Single submitter ⚠
- p.Ala360Thr Single submitter ⚠
- p.Ala414Val Single submitter ⚠
- p.Ala4Glu Single submitter ⚠
- p.Ala589Ser Single submitter ⚠
- p.Arg216His Single submitter ⚠
- p.Arg301His Single submitter ⚠
- p.Arg301Leu Single submitter
- p.Arg39Leu Single submitter ⚠
- p.Arg440Gln Single submitter ⚠
- p.Arg500Lys Single submitter ⚠
- p.Asn198Ser Single submitter ⚠
- p.Asn40Tyr Single submitter ⚠
- p.Asn539Thr Single submitter ⚠
- p.Asn555Ile Single submitter ⚠
- p.Asp52Tyr Single submitter ⚠
- p.Asp546Asn Single submitter ⚠
- p.Asp547Asn Single submitter ⚠
- p.Asp547Gly Single submitter ⚠
- p.Asp605Asn Single submitter ⚠
- p.Gln236Arg Single submitter ⚠
- p.Gln610Glu Single submitter ⚠
- p.Glu223Asp Single submitter orthostatic intolerance ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu22Gln Single submitter ⚠
- p.Glu597Lys Single submitter ⚠
- p.Gly217Val Single submitter
- p.Gly231Ser Single submitter ⚠
- p.Gly400Arg Single submitter ⚠
- p.Gly491Arg Single submitter ⚠
- p.His228Arg Single submitter ⚠
- p.His441Gln Single submitter ⚠
- p.Ile104Met Single submitter ⚠
- p.Ile230Val Single submitter ⚠
- p.Leu190Phe Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu284Arg Single submitter ⚠
- p.Leu444Phe Single submitter ⚠
- p.Leu486Val Single submitter
- p.Leu578Val Single submitter ⚠
- p.Leu600Val Single submitter ⚠
- p.Lys29Arg Single submitter ⚠
- p.Lys29Asn Single submitter ⚠
- p.Met368Thr Single submitter ⚠
- p.Met421Ile Single submitter ⚠
- p.Met487Val Single submitter ⚠
- p.Phe329Leu Single submitter ⚠
- p.Phe528Leu Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro183Arg Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro392Leu Single submitter ⚠
- p.Ser224Asn Single submitter ⚠
- p.Thr402Ala Single submitter ⚠
- p.Thr462Ser Single submitter ⚠
- p.Thr580Met Single submitter ⚠
- p.Thr593Met Single submitter
- p.Tyr367Phe Single submitter ⚠
- p.Tyr516His Single submitter ⚠
- p.Val244Asp Single submitter ⚠
- p.Val276Met Single submitter ⚠
- p.Val532Met Single submitter
- c.1022+5G>C No assertion criteria