SLC6A12 — 79 ClinVar variants
All ClinVar germline SLC6A12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
5 Benign · 13 Likely benign · 61 Uncertain significance
Full SLC6A12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC6A12 p.Ala287Val Uncertain significance Single submitter
- SLC6A12 p.Ala429Thr Uncertain significance Single submitter
- SLC6A12 p.Ala592Ser Uncertain significance Single submitter
- SLC6A12 p.Arg36Gln Uncertain significance Single submitter
- SLC6A12 p.Arg421Cys Uncertain significance Single submitter
- SLC6A12 p.Arg594Gly Uncertain significance Single submitter
- SLC6A12 p.Asp29Val Uncertain significance Single submitter
- SLC6A12 p.Cys10Ser Uncertain significance Single submitter
- SLC6A12 p.Cys10Tyr Uncertain significance Single submitter
- SLC6A12 p.Cys402Tyr Uncertain significance Single submitter
- SLC6A12 p.Cys460Trp Uncertain significance Single submitter
- SLC6A12 p.Gln396Glu Uncertain significance Single submitter
- SLC6A12 p.Gln8Arg Uncertain significance Single submitter
- SLC6A12 p.Glu182Asp Uncertain significance Single submitter
- SLC6A12 p.Glu28Ala Uncertain significance Single submitter
- SLC6A12 p.Glu9Lys Uncertain significance Single submitter
- SLC6A12 p.Gly231Ala Uncertain significance Single submitter
- SLC6A12 p.Gly262Arg Uncertain significance Single submitter
- SLC6A12 p.Gly334Glu Uncertain significance Single submitter
- SLC6A12 p.Gly419Arg Uncertain significance Single submitter
- SLC6A12 p.Gly590Ser Uncertain significance Single submitter
- SLC6A12 p.Gly608Arg Uncertain significance Single submitter
- SLC6A12 p.Gly70Arg Uncertain significance Single submitter
- SLC6A12 p.Gly86Arg Uncertain significance Single submitter
- SLC6A12 p.His585Tyr Uncertain significance Single submitter
- SLC6A12 p.His613Pro Uncertain significance Single submitter
- SLC6A12 p.Ile606Thr Uncertain significance Single submitter
- SLC6A12 p.Leu450Pro Uncertain significance Single submitter
- SLC6A12 p.Leu559Val Uncertain significance Single submitter
- SLC6A12 p.Phe79Cys Uncertain significance Single submitter
- SLC6A12 p.Pro360Leu Uncertain significance Single submitter
- SLC6A12 p.Pro368Ser Uncertain significance Single submitter
- SLC6A12 p.Pro598Arg Uncertain significance Single submitter
- SLC6A12 p.Pro88Leu Uncertain significance Single submitter
- SLC6A12 p.Ser516Ala Uncertain significance Single submitter
- SLC6A12 p.Thr505Asn Uncertain significance Single submitter
- SLC6A12 p.Thr521Ile Uncertain significance Single submitter
- SLC6A12 p.Tyr247His Uncertain significance Single submitter
- SLC6A12 p.Tyr482Cys Uncertain significance Single submitter
- SLC6A12 p.Val283Leu Uncertain significance Single submitter
- SLC6A12 p.Val332Met Uncertain significance Single submitter
- SLC6A12 p.Val430Leu Uncertain significance Single submitter
- SLC6A12 p.Val5Gly Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- SLC6A12 p.Ala140Gly Uncertain significance Single submitter
- SLC6A12 p.Ala366Thr Uncertain significance Single submitter
- SLC6A12 p.Arg210Cys Uncertain significance Single submitter
- SLC6A12 p.Arg277His Uncertain significance Single submitter
- SLC6A12 p.Arg416Gln Uncertain significance Single submitter
- SLC6A12 p.Arg420Gln Uncertain significance Single submitter
- SLC6A12 p.Arg420Trp Uncertain significance Single submitter
- SLC6A12 p.Arg492Trp Uncertain significance Single submitter
- SLC6A12 p.Asn69His Uncertain significance Single submitter
- SLC6A12 p.Gly458Ser Uncertain significance Single submitter
- SLC6A12 p.Leu215Met Uncertain significance Single submitter
- SLC6A12 p.Pro522Leu Uncertain significance Single submitter
- SLC6A12 p.Ser201Leu Uncertain significance Single submitter
- SLC6A12 p.Val469Leu Uncertain significance Single submitter
All SLC6A12 variants
Benign 5
- p.Gln98= Multiple submitters
- p.Thr244= Multiple submitters
- c.1326+9C>G Single submitter
- p.Pro532= Single submitter
- p.Val283= Single submitter
Likely benign 13
- p.Ala14Val Single submitter
- p.Arg562Gln Single submitter
- p.Arg594Gln Single submitter
- p.Glu30Lys Single submitter
- p.Gly176Ser Single submitter
- p.Leu514Phe Single submitter
- p.Phe160Val Single submitter
- p.Phe181Ser Single submitter
- p.Thr167Met Single submitter
- p.Thr601Ala Single submitter
- p.Trp494Ser Single submitter
- p.Val528Ile Single submitter
- p.Val554Ile Single submitter
Uncertain significance 61
- p.Ala140Gly Single submitter ⚠
- p.Ala287Val Single submitter ⚠
- p.Ala366Thr Single submitter ⚠
- p.Ala429Thr Single submitter ⚠
- p.Ala592Ser Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg277His Single submitter ⚠
- p.Arg36Gln Single submitter ⚠
- p.Arg416Gln Single submitter ⚠
- p.Arg420Gln Single submitter ⚠
- p.Arg420Trp Single submitter ⚠
- p.Arg421Cys Single submitter ⚠
- p.Arg492Trp Single submitter ⚠
- p.Arg568Cys Single submitter
- p.Arg568His Single submitter
- p.Arg594Gly Single submitter ⚠
- p.Asn69His Single submitter ⚠
- p.Asp29Val Single submitter ⚠
- p.Cys10Ser Single submitter ⚠
- p.Cys10Tyr Single submitter ⚠
- p.Cys402Tyr Single submitter ⚠
- p.Cys460Trp Single submitter ⚠
- p.Gln396Glu Single submitter ⚠
- p.Gln8Arg Single submitter ⚠
- p.Glu182Asp Single submitter ⚠
- p.Glu28Ala Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly231Ala Single submitter ⚠
- p.Gly262Arg Single submitter ⚠
- p.Gly334Glu Single submitter ⚠
- p.Gly419Arg Single submitter ⚠
- p.Gly458Ser Single submitter ⚠
- p.Gly590Ser Single submitter ⚠
- p.Gly608Arg Single submitter ⚠
- p.Gly70Arg Single submitter ⚠
- p.Gly86Arg Single submitter ⚠
- p.His585Tyr Single submitter ⚠
- p.His613Pro Single submitter ⚠
- p.Ile606Thr Single submitter ⚠
- p.Leu129Met Single submitter
- p.Leu215Met Single submitter ⚠
- p.Leu450Pro Single submitter ⚠
- p.Leu559Val Single submitter ⚠
- p.Phe79Cys Single submitter ⚠
- p.Pro360Leu Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro522Leu Single submitter ⚠
- p.Pro598Arg Single submitter ⚠
- p.Pro88Leu Single submitter ⚠
- p.Ser201Leu Single submitter ⚠
- p.Ser516Ala Single submitter ⚠
- p.Thr505Asn Single submitter ⚠
- p.Thr521Ile Single submitter ⚠
- p.Tyr247His Single submitter ⚠
- p.Tyr482Cys Single submitter ⚠
- p.Val283Leu Single submitter ⚠
- p.Val332Met Single submitter ⚠
- p.Val404Met Single submitter
- p.Val430Leu Single submitter ⚠
- p.Val469Leu Single submitter ⚠
- p.Val5Gly Single submitter ⚠