Sugi Variant

Sugi Variant/TG

TG — 2156 ClinVar variants

All ClinVar germline TG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 413 flagged for review →

146 Pathogenic · 16 Pathogenic/Likely pathogenic · 85 Likely pathogenic · 121 Conflicting · 93 Benign · 45 Benign/Likely benign · 1081 Likely benign · 569 Uncertain significance

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

⚑ Evidence disagreements 413

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 34

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

Predictors lean, ClinVar uncertain 364

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 364

Predictors split 15

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

All TG variants

Pathogenic 146

Pathogenic/Likely pathogenic 16

  • c.4528+1G>A Multiple submitters TG-related disorder
  • c.638+5G>A Multiple submitters thyroid dyshormonogenesis 3
  • p.Ala2234Asp Multiple submitters congenital hypothyroidism
  • p.Arg159Ter Multiple submitters congenital hypothyroidism
  • p.Arg1998Ter Multiple submitters
  • p.Arg2336Gln Multiple submitters TG-related disorder
  • p.Arg2530Ter Multiple submitters thyroid dyshormonogenesis 3
  • p.Cys1077Ter Multiple submitters thyroid dyshormonogenesis 3
  • p.Cys1728Ter Multiple submitters thyroid dyshormonogenesis 3
  • p.Gln1291Ter Multiple submitters thyroid dyshormonogenesis 3
  • p.Gln1297Ter Multiple submitters TG-related disorder
  • p.Gln29Ter Multiple submitters
  • p.Gln771Ter Multiple submitters thyroid dyshormonogenesis 3
  • p.Glu39Ter Multiple submitters congenital hypothyroidism
  • p.Gly2375Arg Multiple submitters autoimmune thyroid disease, susceptibility to, 3
  • p.Gly815Ter Multiple submitters autoimmune thyroid disease, susceptibility to, 3

Likely pathogenic 85

Conflicting classifications of pathogenicity 121

Benign 93

Benign/Likely benign 45

  • c.2761+10C>T Multiple submitters
  • c.2761+11G>T Multiple submitters thyroid dyshormonogenesis 3
  • c.2761+14T>C Multiple submitters thyroid dyshormonogenesis 3
  • c.3217+11A>C Multiple submitters thyroid dyshormonogenesis 3
  • c.3330+11G>A Multiple submitters
  • c.3848-20T>C Multiple submitters thyroid dyshormonogenesis 3
  • c.4529-18T>C Multiple submitters
  • c.478+15G>A Multiple submitters thyroid dyshormonogenesis 3
  • c.5402-16A>T Multiple submitters
  • c.6055+7A>G Multiple submitters thyroid dyshormonogenesis 3
  • p.Ala1311= Multiple submitters thyroid dyshormonogenesis 3
  • p.Ala1502= Multiple submitters thyroid dyshormonogenesis 3
  • p.Ala2422Thr Multiple submitters thyroid dyshormonogenesis 3
  • p.Arg1999Trp Multiple submitters thyroid dyshormonogenesis 3
  • p.Arg2530Gln Multiple submitters thyroid dyshormonogenesis 3
  • p.Arg988Pro Multiple submitters thyroid dyshormonogenesis 3
  • p.Asn20= Multiple submitters
  • p.Asn2616Ile Multiple submitters thyroid dyshormonogenesis 3
  • p.Asn2616Ser Multiple submitters thyroid dyshormonogenesis 3
  • p.Asp1312Gly Multiple submitters thyroid dyshormonogenesis 3
  • p.Asp1455= Multiple submitters thyroid dyshormonogenesis 3
  • p.Asp1729Ala Multiple submitters thyroid dyshormonogenesis 3
  • p.Asp1767del Multiple submitters congenital hypothyroidism
  • p.Asp1838Asn Multiple submitters thyroid dyshormonogenesis 3
  • p.Asp2091Gly Multiple submitters thyroid dyshormonogenesis 3
  • p.Gln630= Multiple submitters thyroid dyshormonogenesis 3
  • p.Gly815Arg Multiple submitters thyroid dyshormonogenesis 3
  • p.Ile1708Val Multiple submitters thyroid dyshormonogenesis 3
  • p.Ile1790Met Multiple submitters thyroid dyshormonogenesis 3
  • p.Ile444= Multiple submitters thyroid dyshormonogenesis 3
  • p.Leu1063Met Multiple submitters thyroid dyshormonogenesis 3
  • p.Leu2470= Multiple submitters thyroid dyshormonogenesis 3
  • p.Leu2547Gln Multiple submitters thyroid dyshormonogenesis 3
  • p.Met1028Val Multiple submitters thyroid dyshormonogenesis 3
  • p.Met1974Thr Multiple submitters thyroid dyshormonogenesis 3
  • p.Pro1707Ser Multiple submitters thyroid dyshormonogenesis 3
  • p.Pro778= Multiple submitters thyroid dyshormonogenesis 3
  • p.Ser1222Leu Multiple submitters thyroid dyshormonogenesis 3
  • p.Ser2132Leu Multiple submitters thyroid dyshormonogenesis 3
  • p.Ser734Ala Multiple submitters thyroid dyshormonogenesis 3
  • p.Thr1498Met Multiple submitters thyroid dyshormonogenesis 3
  • p.Thr607= Multiple submitters thyroid dyshormonogenesis 3
  • p.Trp2501Arg Multiple submitters thyroid dyshormonogenesis 3
  • p.Tyr2640= Multiple submitters thyroid dyshormonogenesis 3
  • p.Val2472Leu Multiple submitters thyroid dyshormonogenesis 3

Likely benign 1081

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 569

Showing the top 300 by review status; the full set is in the sitemap.