SLC6A6 — 78 ClinVar variants
All ClinVar germline SLC6A6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 2 Benign · 9 Likely benign · 64 Uncertain significance
Full SLC6A6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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SLC6A6 p.Val239Ile
Uncertain significance
Multiple submitters
hypotaurinemic retinal degeneration and cardiomyopathy
- SLC6A6 p.Ala272Thr Uncertain significance Single submitter
- SLC6A6 p.Ala509Thr Uncertain significance Single submitter
- SLC6A6 p.Arg177His Uncertain significance Single submitter
- SLC6A6 p.Arg201His Uncertain significance Single submitter
- SLC6A6 p.Arg499Trp Uncertain significance Single submitter
- SLC6A6 p.Arg583Gly Uncertain significance Single submitter
- SLC6A6 p.Arg587His Uncertain significance Single submitter
- SLC6A6 p.Arg592Cys Uncertain significance Single submitter
- SLC6A6 p.Arg592His Uncertain significance Single submitter
- SLC6A6 p.Arg601Cys Uncertain significance Single submitter
- SLC6A6 p.Arg601Gly Uncertain significance Single submitter
- SLC6A6 p.Arg601His Uncertain significance Single submitter
- SLC6A6 p.Asn533Ser Uncertain significance Single submitter
- SLC6A6 p.Asn540Ser Uncertain significance Single submitter
- SLC6A6 p.Asn599His Uncertain significance Single submitter
- SLC6A6 p.Asn605Ser Uncertain significance Single submitter
- SLC6A6 p.Asp211Asn Uncertain significance Single submitter
- SLC6A6 p.Asp49Asn Uncertain significance Single submitter
- SLC6A6 p.Glu114Lys Uncertain significance Single submitter
- SLC6A6 p.Glu593Gln Uncertain significance Single submitter
- SLC6A6 p.Glu593Lys Uncertain significance Single submitter
- SLC6A6 p.Gly23Ala Uncertain significance Single submitter
- SLC6A6 p.Gly606Ser Uncertain significance Single submitter
- SLC6A6 p.His613Arg Uncertain significance Single submitter
- SLC6A6 p.Ile130Thr Uncertain significance Single submitter
- SLC6A6 p.Ile186Met Uncertain significance Single submitter
- SLC6A6 p.Ile344Val Uncertain significance Single submitter
- SLC6A6 p.Ile359Val Uncertain significance Single submitter
- SLC6A6 p.Ile438Leu Uncertain significance Single submitter
- SLC6A6 p.Ile521Leu Uncertain significance Single submitter
- SLC6A6 p.Leu515His Uncertain significance Single submitter
- SLC6A6 p.Leu565Phe Uncertain significance Single submitter
- SLC6A6 p.Leu608Phe Uncertain significance Single submitter
- SLC6A6 p.Met446Thr Uncertain significance Single submitter
- SLC6A6 p.Met452Arg Uncertain significance Single submitter
- SLC6A6 p.Met495Val Uncertain significance Single submitter
- SLC6A6 p.Pro39Leu Uncertain significance Single submitter
- SLC6A6 p.Pro539Arg Uncertain significance Single submitter
- SLC6A6 p.Pro597Leu Uncertain significance Single submitter
- SLC6A6 p.Pro82Leu Uncertain significance Single submitter
- SLC6A6 p.Ser152Phe Uncertain significance Single submitter
- SLC6A6 p.Ser165Ile Uncertain significance Single submitter
- SLC6A6 p.Ser187Gly Uncertain significance Single submitter
- SLC6A6 p.Ser188Tyr Uncertain significance Single submitter
- SLC6A6 p.Ser241Cys Uncertain significance Single submitter
- SLC6A6 p.Thr445Met Uncertain significance Single submitter
- SLC6A6 p.Thr596Ile Uncertain significance Single submitter
- SLC6A6 p.Val128Phe Uncertain significance Single submitter
- SLC6A6 p.Val230Leu Uncertain significance Single submitter
- SLC6A6 p.Val435Met Uncertain significance Single submitter
- SLC6A6 p.Val517Ile Uncertain significance Single submitter
- SLC6A6 p.Val525Ile Uncertain significance Single submitter
- SLC6A6 p.Val528Ile Uncertain significance Single submitter
- SLC6A6 p.Val537Met Uncertain significance Single submitter
- SLC6A6 p.Val59Met Uncertain significance Single submitter
- SLC6A6 p.Val603Ile Uncertain significance Single submitter
- SLC6A6 p.Val609Leu Uncertain significance Single submitter
- SLC6A6 p.Val64Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All SLC6A6 variants
Pathogenic 1
- p.Thr249Ile Single submitter inherited retinal dystrophy
Likely pathogenic 2
- p.Ala78Glu Single submitter retinal degeneration
- p.Gly399Val Single submitter retinal degeneration
Benign 2
- p.Ser464= Single submitter
- p.Val128Ile Single submitter
Likely benign 9
- c.1552-4G>A Single submitter
- c.971+11C>T Single submitter
- p.Leu257= Single submitter
- p.Pro611= Single submitter
- p.Ser311= Single submitter
- p.Thr189= Single submitter
- p.Val203Met Single submitter hypotaurinemic retinal degeneration and cardiomyopathy
- p.Val562Ile Single submitter
- p.Val609Met Single submitter
Uncertain significance 64
- p.Val239Ile Multiple submitters hypotaurinemic retinal degeneration and cardiomyopathy ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala370Val Single submitter ⚠
- p.Ala509Thr Single submitter ⚠
- p.Arg177His Single submitter ⚠
- p.Arg201His Single submitter ⚠
- p.Arg499Trp Single submitter ⚠
- p.Arg583Gly Single submitter ⚠
- p.Arg587His Single submitter ⚠
- p.Arg592Cys Single submitter ⚠
- p.Arg592His Single submitter ⚠
- p.Arg601Cys Single submitter ⚠
- p.Arg601Gly Single submitter ⚠
- p.Arg601His Single submitter ⚠
- p.Asn533Ser Single submitter ⚠
- p.Asn540Ser Single submitter ⚠
- p.Asn599His Single submitter ⚠
- p.Asn605Ser Single submitter ⚠
- p.Asp211Asn Single submitter ⚠
- p.Asp49Asn Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Glu593Gln Single submitter ⚠
- p.Glu593Lys Single submitter ⚠
- p.Gly23Ala Single submitter ⚠
- p.Gly501Arg Single submitter
- p.Gly606Ser Single submitter ⚠
- p.His613Arg Single submitter ⚠
- p.Ile130Thr Single submitter ⚠
- p.Ile186Met Single submitter ⚠
- p.Ile344Val Single submitter ⚠
- p.Ile359Val Single submitter ⚠
- p.Ile438Leu Single submitter ⚠
- p.Ile521Leu Single submitter ⚠
- p.Leu515His Single submitter ⚠
- p.Leu565Phe Single submitter ⚠
- p.Leu608Phe Single submitter ⚠
- p.Met446Thr Single submitter ⚠
- p.Met452Arg Single submitter ⚠
- p.Met495Val Single submitter ⚠
- p.Phe386Cys Single submitter ⚠
- p.Phe431Leu Single submitter ⚠
- p.Pro39Leu Single submitter ⚠
- p.Pro539Arg Single submitter ⚠
- p.Pro597Leu Single submitter ⚠
- p.Pro611Leu Single submitter
- p.Pro82Leu Single submitter ⚠
- p.Ser152Phe Single submitter ⚠
- p.Ser165Ile Single submitter ⚠
- p.Ser187Gly Single submitter ⚠
- p.Ser188Tyr Single submitter ⚠
- p.Ser241Cys Single submitter ⚠
- p.Thr445Met Single submitter ⚠
- p.Thr596Ile Single submitter ⚠
- p.Val128Phe Single submitter ⚠
- p.Val230Leu Single submitter ⚠
- p.Val435Met Single submitter ⚠
- p.Val517Ile Single submitter ⚠
- p.Val525Ile Single submitter ⚠
- p.Val528Ile Single submitter ⚠
- p.Val537Met Single submitter ⚠
- p.Val59Met Single submitter ⚠
- p.Val603Ile Single submitter ⚠
- p.Val609Leu Single submitter ⚠
- p.Val64Ile Single submitter ⚠