Sugi Variant

Sugi Variant/LTBP2

LTBP2 — 1627 ClinVar variants

All ClinVar germline LTBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 627 flagged for review →

52 Pathogenic · 4 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 99 Conflicting · 85 Benign · 29 Benign/Likely benign · 635 Likely benign · 700 Uncertain significance

Full LTBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 627

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 2

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

Predictors agree, ClinVar conflicts 37

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

Predictors lean, ClinVar uncertain 519

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 519

Predictors split 69

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

All LTBP2 variants

Pathogenic 52

Pathogenic/Likely pathogenic 4

Likely pathogenic 23

Conflicting classifications of pathogenicity 99

  • c.1399+10G>T Single submitter glaucoma 3, primary congenital, D
  • c.1686+3G>A Single submitter glaucoma 3, primary congenital, D
  • c.1686+8C>G Single submitter
  • c.1789+7G>A Single submitter Weill-Marchesani syndrome
  • c.1865-12C>T Single submitter
  • c.2388+8C>G Single submitter Weill-Marchesani syndrome
  • c.2388+8C>T Single submitter Weill-Marchesani syndrome 3
  • c.2428+5G>C Single submitter Weill-Marchesani syndrome 3
  • c.2788+14G>A Single submitter Weill-Marchesani syndrome
  • c.2788+15C>G Single submitter Weill-Marchesani syndrome
  • c.2789-9T>C Single submitter Weill-Marchesani syndrome
  • c.2908+9C>T Single submitter Weill-Marchesani syndrome
  • c.3278-15G>A Single submitter Weill-Marchesani syndrome
  • c.3527-14T>C Single submitter Weill-Marchesani syndrome
  • c.3527-3C>A Single submitter Weill-Marchesani syndrome
  • c.3652+1G>C Single submitter
  • c.4178-6G>A Single submitter Weill-Marchesani syndrome
  • c.4370-14G>A Single submitter Weill-Marchesani syndrome
  • c.*10dup Single submitter microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
  • c.*119C>T Single submitter Weill-Marchesani syndrome
  • c.*1427A>G Single submitter Weill-Marchesani syndrome
  • c.*2363A>G Single submitter Weill-Marchesani syndrome
  • c.*2684A>G Single submitter Weill-Marchesani syndrome
  • c.*945T>C Single submitter Weill-Marchesani syndrome
  • p.265_270PQSPPA[3] Single submitter Weill-Marchesani syndrome 3
  • p.Ala1204Val Single submitter Weill-Marchesani syndrome 3 ⚠
  • p.Ala1358Ser Single submitter glaucoma 3, primary congenital, D ⚠
  • p.Ala1442Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala270Val Single submitter Inborn genetic diseases ⚠
  • p.Ala7= Single submitter Weill-Marchesani syndrome
  • p.Ala726= Single submitter Weill-Marchesani syndrome
  • p.Ala924Val Single submitter Weill-Marchesani syndrome ⚠
  • p.Arg150= Single submitter Weill-Marchesani syndrome
  • p.Arg1501Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1600His Single submitter Inborn genetic diseases ⚠
  • p.Arg1701His Single submitter Inborn genetic diseases ⚠
  • p.Arg1801His Single submitter Weill-Marchesani syndrome ⚠
  • p.Arg324= Single submitter Weill-Marchesani syndrome
  • p.Arg495= Single submitter Weill-Marchesani syndrome
  • p.Arg4Trp Single submitter Weill-Marchesani syndrome ⚠
  • p.Arg847= Single submitter glaucoma 3, primary congenital, D
  • p.Arg975His Single submitter Inborn genetic diseases ⚠
  • p.Asn889= Single submitter Weill-Marchesani syndrome
  • p.Asp1380His Single submitter Inborn genetic diseases ⚠
  • p.Asp1779Glu Single submitter Inborn genetic diseases ⚠
  • p.Cys1186= Single submitter Weill-Marchesani syndrome
  • p.Cys1307= Single submitter Weill-Marchesani syndrome
  • p.Cys1489= Single submitter Weill-Marchesani syndrome
  • p.Cys218= Single submitter Weill-Marchesani syndrome 3
  • p.Gln1038= Single submitter Weill-Marchesani syndrome
  • p.Gln1417Arg Single submitter microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma ⚠
  • p.Gln694= Single submitter Weill-Marchesani syndrome
  • p.Gln83= Single submitter Weill-Marchesani syndrome
  • p.Glu1541= Single submitter glaucoma 3, primary congenital, D
  • p.Glu1541Lys Single submitter glaucoma 3, primary congenital, D ⚠
  • p.Glu708Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu890Lys Single submitter glaucoma 3, primary congenital, D ⚠
  • p.Gly1288Val Single submitter Inborn genetic diseases ⚠
  • p.Gly1540= Single submitter microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
  • p.Gly1660Trp Single submitter glaucoma 3, primary congenital, D
  • p.Gly497Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly611= Single submitter Weill-Marchesani syndrome
  • p.Gly938Glu Single submitter Inborn genetic diseases ⚠
  • p.His1185Tyr Single submitter Inborn genetic diseases ⚠
  • p.His728= Single submitter glaucoma 3, primary congenital, D
  • p.Leu1202= Single submitter Weill-Marchesani syndrome
  • p.Leu1623= Single submitter Weill-Marchesani syndrome
  • p.Leu82= Single submitter Weill-Marchesani syndrome
  • p.Met1482Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe1492= Single submitter glaucoma 3, primary congenital, D
  • p.Phe1729= Single submitter Weill-Marchesani syndrome
  • p.Phe720= Single submitter Weill-Marchesani syndrome
  • p.Pro126= Single submitter Inborn genetic diseases
  • p.Pro1269= Single submitter Weill-Marchesani syndrome
  • p.Pro1297= Single submitter Weill-Marchesani syndrome
  • p.Pro269= Single submitter glaucoma 3, primary congenital, D
  • p.Pro432Leu Single submitter microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma ⚠
  • p.Pro434Leu Single submitter Weill-Marchesani syndrome ⚠
  • p.Pro511Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro599Leu Single submitter glaucoma 3, primary infantile, B ⚠
  • p.Pro989Arg Single submitter Weill-Marchesani syndrome ⚠
  • p.Ser1215= Single submitter Weill-Marchesani syndrome
  • p.Ser267Leu Single submitter Weill-Marchesani syndrome ⚠
  • p.Ser273Leu Single submitter Weill-Marchesani syndrome ⚠
  • p.Ser707Arg Single submitter ⚠
  • p.Ser70Gly Single submitter Weill-Marchesani syndrome ⚠
  • p.Ser761= Single submitter Weill-Marchesani syndrome
  • p.Ser951= Single submitter Weill-Marchesani syndrome
  • p.Thr1401= Single submitter glaucoma 3, primary congenital, D
  • p.Thr1607= Single submitter Weill-Marchesani syndrome
  • p.Thr1685= Single submitter Weill-Marchesani syndrome
  • p.Thr886Lys Single submitter Weill-Marchesani syndrome ⚠
  • p.Tyr960= Single submitter Weill-Marchesani syndrome
  • p.Val1506Met Single submitter microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma ⚠
  • p.Val1590Ala Single submitter Weill-Marchesani syndrome ⚠
  • p.Val1686Ile Single submitter Weill-Marchesani syndrome ⚠
  • p.Val1789Ala Single submitter Inborn genetic diseases ⚠
  • p.Val776Ala Single submitter Inborn genetic diseases ⚠
  • p.Val776Ile Single submitter Inborn genetic diseases ⚠

Benign 85

Benign/Likely benign 29

Likely benign 635

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

Uncertain significance 700

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