Sugi Variant

Sugi Variant/ADAMTSL4

ADAMTSL4 — 1372 ClinVar variants

All ClinVar germline ADAMTSL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 509 flagged for review →

114 Pathogenic · 12 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 52 Conflicting · 67 Benign · 14 Benign/Likely benign · 563 Likely benign · 522 Uncertain significance

Full ADAMTSL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 509

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 10

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

Predictors lean, ClinVar uncertain 268

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 268

Predictors split 231

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 231

All ADAMTSL4 variants

Pathogenic 114

Pathogenic/Likely pathogenic 12

  • p.Arg1007Ter Multiple submitters ectopia lentis et pupillae
  • p.Arg494Ter Multiple submitters
  • p.Arg670Ter Multiple submitters ectopia lentis et pupillae
  • p.Arg865His Multiple submitters ectopia lentis et pupillae
  • p.Arg973Ter Multiple submitters
  • p.Gln405Ter Multiple submitters
  • p.Glu382fs Multiple submitters ectopia lentis 2, isolated, autosomal recessive
  • p.Gly757fs Multiple submitters ectopia lentis 2, isolated, autosomal recessive
  • p.Pro960fs Multiple submitters ectopia lentis 2, isolated, autosomal recessive
  • p.Ser118fs Multiple submitters ectopia lentis 2, isolated, autosomal recessive
  • p.Ser571Ter Multiple submitters isolated ectopia lentis
  • p.Ser674fs Multiple submitters ectopia lentis 2, isolated, autosomal recessive

Likely pathogenic 28

Conflicting classifications of pathogenicity 52

  • c.1131+15G>A Single submitter ectopia lentis 2, isolated, autosomal recessive
  • c.1577-5C>T Single submitter ectopia lentis 2, isolated, autosomal recessive
  • c.1862-11C>T Single submitter ectopia lentis 2, isolated, autosomal recessive
  • c.2178-10G>T Single submitter ectopia lentis et pupillae
  • c.2559+8C>T Single submitter ectopia lentis 2, isolated, autosomal recessive
  • c.2559+9G>A Single submitter ectopia lentis et pupillae
  • c.2560-4G>A Single submitter ectopia lentis et pupillae
  • c.2560-5C>T Single submitter ectopia lentis 2, isolated, autosomal recessive
  • c.2944-7G>A Single submitter ectopia lentis 2, isolated, autosomal recessive
  • c.2944-8C>T Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Ala142= Single submitter
  • p.Ala206Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala54= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Ala707= Single submitter ectopia lentis et pupillae
  • p.Ala707Val Single submitter Inborn genetic diseases ⚠
  • p.Ala875= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Ala902Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala961= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Arg250Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg276His Single submitter Inborn genetic diseases ⚠
  • p.Arg327Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg512Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg556Ter Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Arg746Cys Single submitter ectopia lentis 2, isolated, autosomal recessive ⚠
  • p.Arg771Trp Single submitter ectopia lentis et pupillae ⚠
  • p.Arg801Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg901= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Arg913Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg98Trp Single submitter ectopia lentis 2, isolated, autosomal recessive ⚠
  • p.Asn344= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Asp849Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp849Glu Single submitter Inborn genetic diseases ⚠
  • p.Cys680= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Gln880= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Gly473= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Gly592= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Gly730= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.His719= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Pro195Leu Single submitter ectopia lentis 2, isolated, autosomal recessive ⚠
  • p.Pro381Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro631= Single submitter
  • p.Pro741= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Pro763Leu Single submitter ectopia lentis 2, isolated, autosomal recessive ⚠
  • p.Pro897= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Ser177= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Ser29= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Ser696Leu Single submitter ectopia lentis et pupillae ⚠
  • p.Ser819= Single submitter ectopia lentis 2, isolated, autosomal recessive
  • p.Thr319Met Single submitter Inborn genetic diseases ⚠
  • p.Thr990Met Single submitter ectopia lentis 2, isolated, autosomal recessive ⚠
  • p.Trp540Ter Single submitter
  • p.Tyr430Cys Single submitter ectopia lentis 2, isolated, autosomal recessive ⚠

Benign 67

Benign/Likely benign 14

  • c.1861+13C>T Multiple submitters ectopia lentis et pupillae
  • c.2560-14CTC[2] Multiple submitters ectopia lentis et pupillae
  • c.2763+12G>A Multiple submitters ectopia lentis 2, isolated, autosomal recessive
  • p.Ala393= Multiple submitters ectopia lentis et pupillae
  • p.Ala969Asp Multiple submitters ectopia lentis et pupillae
  • p.Arg1047= Multiple submitters ectopia lentis et pupillae
  • p.Arg1060Gly Multiple submitters ectopia lentis et pupillae
  • p.Gly336Asp Multiple submitters ectopia lentis et pupillae
  • p.Lys436= Multiple submitters
  • p.Pro763Arg Multiple submitters ectopia lentis et pupillae ⚠
  • p.Ser205= Multiple submitters Inborn genetic diseases
  • p.Ser268Phe Multiple submitters ectopia lentis et pupillae ⚠
  • p.Thr860= Multiple submitters ectopia lentis 2, isolated, autosomal recessive
  • p.Thr943= Multiple submitters ectopia lentis et pupillae

Likely benign 563

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

Uncertain significance 522

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