Sugi Variant

Sugi Variant/TJP2

TJP2 — 900 ClinVar variants

All ClinVar germline TJP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 415 flagged for review →

46 Pathogenic · 7 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 72 Conflicting · 76 Benign · 21 Benign/Likely benign · 190 Likely benign · 459 Uncertain significance

Full TJP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 415

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 25

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

Predictors lean, ClinVar uncertain 271

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 271

Predictors split 116

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

All TJP2 variants

Pathogenic 46

  • p.Arg412Ter Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Arg591Ter Multiple submitters Inborn genetic diseases
  • p.Arg632Ter Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Arg725Ter Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Gln842Ter Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Tyr261fs Multiple submitters TJP2-related disorder
  • c.115-1G>A Single submitter cholestasis, progressive familial intrahepatic, 4
  • c.115-2A>C Single submitter cholestasis, progressive familial intrahepatic, 4
  • c.1672-1G>A Single submitter cholestasis, progressive familial intrahepatic, 4
  • c.1780+1G>T Single submitter
  • c.1992-2A>G Single submitter cholestasis, progressive familial intrahepatic, 4
  • c.2667+3A>G Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Ala273fs Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Ala454fs Single submitter hypercholanemia, familial 1
  • p.Arg167fs Single submitter
  • p.Arg197fs Single submitter
  • p.Arg213Ter Single submitter
  • p.Arg302fs Single submitter
  • p.Arg627fs Single submitter
  • p.Arg837Ter Single submitter
  • p.Arg970Ter Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Gln480fs Single submitter
  • p.Gln589Ter Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Gln691Ter Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Gln785Ter Single submitter
  • p.Gln957Ter Single submitter
  • p.Glu157Ter Single submitter
  • p.Glu268Ter Single submitter
  • p.Glu616Ter Single submitter
  • p.Glu629fs Single submitter
  • p.Gly154_Tyr155insTer Single submitter
  • p.Ile875Thr Single submitter autosomal dominant nonsyndromic hearing loss 51
  • p.Ile962fs Single submitter
  • p.Leu566Ter Single submitter
  • p.Pro484fs Single submitter
  • p.Ser192fs Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Ser232fs Single submitter
  • p.Ser431Ter Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Thr849fs Single submitter
  • p.Trp29fs Single submitter
  • c.2668-1G>T No assertion criteria cholestasis, progressive familial intrahepatic, 4
  • p.Asn814fs No assertion criteria cholestasis, progressive familial intrahepatic, 4
  • p.Gln386fs No assertion criteria cholestasis, progressive familial intrahepatic, 4
  • p.Ser296fs No assertion criteria cholestasis, progressive familial intrahepatic, 4
  • p.Ser415fs No assertion criteria cholestasis, progressive familial intrahepatic, 4
  • p.Val883fs No assertion criteria cholestasis, progressive familial intrahepatic, 4

Pathogenic/Likely pathogenic 7

  • c.239+1G>A Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Arg775_Leu776insTer Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Gln207Ter Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Glu1109Ter Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Gly5fs Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • p.Gly737Ser Multiple submitters branchio-oto-renal syndrome
  • p.Val48Ala Multiple submitters cholestasis, progressive familial intrahepatic, 4

Likely pathogenic 29

  • p.Gln878Ter Multiple submitters cholestasis, progressive familial intrahepatic, 4
  • c.1319+2T>C Single submitter TJP2-related disorder
  • c.1320-1G>A Single submitter
  • c.1517_1520+8del Single submitter cholestasis, progressive familial intrahepatic, 4
  • c.1780+2T>G Single submitter cholestasis, progressive familial intrahepatic, 4
  • c.2180-5T>G Single submitter cholestasis, progressive familial intrahepatic, 4
  • c.2355+1G>T Single submitter
  • c.2880+1G>A Single submitter
  • c.2881-2A>G Single submitter
  • c.3322-1G>T Single submitter
  • c.952+1_952+732del Single submitter
  • c.953-1G>A Single submitter
  • c.953-2A>G Single submitter hypercholanemia, familial 1
  • p.Arg185fs Single submitter TJP2-related disorder
  • p.Arg334fs Single submitter
  • p.Arg334Ter Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Arg42fs Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Gln1169Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
  • p.Glu960= Single submitter
  • p.His788Leu Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Leu525Ser Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Leu79Arg Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Lys730fs Single submitter TJP2-related disorder
  • p.Lys730Ter Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Pro969Gln Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
  • p.Ser966fs Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Thr619Ala Single submitter cholestasis, progressive familial intrahepatic, 4 ⚠
  • p.Val821fs Single submitter cholestasis, progressive familial intrahepatic, 4
  • p.Arg187fs No assertion criteria TJP2-related disorder

Conflicting classifications of pathogenicity 72

Benign 76

Benign/Likely benign 21

Likely benign 190

Uncertain significance 459

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