SLC6A11 — 78 ClinVar variants

All ClinVar germline SLC6A11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →

1 Conflicting · 4 Benign · 2 Likely benign · 71 Uncertain significance

Full SLC6A11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 66

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC6A11 p.Val273Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 58

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 7

The independent predictors disagree with each other — read with care.

All SLC6A11 variants

Conflicting classifications of pathogenicity 1

p.Val273Ile Single submitter ⚠

Benign 4

p.Ala258= Multiple submitters
p.Ile487= Multiple submitters
p.Met519Thr Multiple submitters
p.Asn329= Single submitter

Likely benign 2

p.Ala15= Single submitter
p.Pro24Leu Single submitter

Uncertain significance 71

p.Ala360Val Single submitter ⚠
p.Ala525Thr Single submitter ⚠
p.Ala525Val Single submitter ⚠
p.Ala64Thr Single submitter ⚠
p.Arg210Gln Single submitter ⚠
p.Arg37His Single submitter ⚠
p.Arg37Leu Single submitter ⚠
p.Arg436Gln Single submitter ⚠
p.Arg495Leu Single submitter ⚠
p.Arg507Gln Single submitter ⚠
p.Arg597Gln Single submitter ⚠
p.Arg605Trp Single submitter ⚠
p.Asn160Lys Single submitter ⚠
p.Asp44Asn Single submitter ⚠
p.Cys126Phe Single submitter ⚠
p.Cys161Gly Single submitter
p.Cys484Ser Single submitter ⚠
p.Cys515Phe Single submitter ⚠
p.Cys99Tyr Single submitter ⚠
p.Glu165Gln Single submitter ⚠
p.Glu362Lys Single submitter
p.Gly25Arg Single submitter ⚠
p.Gly32Ser Single submitter ⚠
p.Gly343Ser Single submitter ⚠
p.Gly458Ser Single submitter ⚠
p.His142Leu Single submitter ⚠
p.His142Tyr Single submitter ⚠
p.Ile214Val Single submitter ⚠
p.Ile238Leu Single submitter ⚠
p.Ile335Val Single submitter ⚠
p.Ile380Met Single submitter ⚠
p.Ile440Ser Single submitter ⚠
p.Ile512Val Single submitter ⚠
p.Ile569Phe Single submitter ⚠
p.Ile68Thr Single submitter ⚠
p.Leu224Val Single submitter ⚠
p.Leu394Met Single submitter ⚠
p.Leu600Phe Single submitter ⚠
p.Lys45Arg Single submitter ⚠
p.Met204Val Single submitter ⚠
p.Met401Leu Single submitter ⚠
p.Met454Leu Single submitter ⚠
p.Met503Thr Single submitter ⚠
p.Met517Val Single submitter ⚠
p.Phe105Cys Single submitter ⚠
p.Phe129Leu Single submitter ⚠
p.Phe346Val Single submitter ⚠
p.Pro288Ser Single submitter ⚠
p.Pro509Arg Single submitter ⚠
p.Ser30Gly Single submitter ⚠
p.Ser392Cys Single submitter ⚠
p.Ser510Leu Single submitter ⚠
p.Thr304Met Single submitter ⚠
p.Thr387Ala Single submitter ⚠
p.Thr545Ile Single submitter ⚠
p.Thr576Met Single submitter ⚠
p.Thr579Ile Single submitter
p.Thr588Met Single submitter ⚠
p.Thr608Ile Single submitter ⚠
p.Thr630Met Single submitter ⚠
p.Tyr497Cys Single submitter ⚠
p.Val103Leu Single submitter ⚠
p.Val145Met Single submitter ⚠
p.Val256Leu Single submitter
p.Val256Met Single submitter
p.Val347Met Single submitter ⚠
p.Val365Leu Single submitter ⚠
p.Val423Ala Single submitter
p.Val47Ala Single submitter ⚠
p.Val602Leu Single submitter ⚠
p.Val60Met Single submitter ⚠