Sugi Variant

Sugi Variant/ADAMTSL2

ADAMTSL2 — 342 ClinVar variants

All ClinVar germline ADAMTSL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

7 Pathogenic · 15 Likely pathogenic · 30 Conflicting · 47 Benign · 3 Benign/Likely benign · 43 Likely benign · 197 Uncertain significance

Full ADAMTSL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 4

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

Predictors lean, ClinVar uncertain 87

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 52

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

All ADAMTSL2 variants

Pathogenic 7

Likely pathogenic 15

  • p.Arg113Cys Multiple submitters geleophysic dysplasia 1
  • p.Arg113His Multiple submitters lethal short-limb skeletal dysplasia, Al Gazali type
  • p.Arg113Leu Multiple submitters geleophysic dysplasia 1
  • p.Gln77Ter Multiple submitters lethal short-limb skeletal dysplasia, Al Gazali type
  • p.Gly354fs Multiple submitters lethal short-limb skeletal dysplasia, Al Gazali type
  • c.2737+1G>T Single submitter geleophysic dysplasia 1
  • p.Arg166Cys Single submitter lethal short-limb skeletal dysplasia, Al Gazali type ⚠
  • p.Arg240Ter Single submitter lethal short-limb skeletal dysplasia, Al Gazali type
  • p.Arg72Gln Single submitter geleophysic dysplasia 1 ⚠
  • p.Cys180fs Single submitter
  • p.Cys591Ter Single submitter ADAMTSL2-related disorder
  • p.Cys617Ter Single submitter
  • p.Gly168Ser Single submitter lethal short-limb skeletal dysplasia, Al Gazali type
  • p.Gly267Ser Single submitter geleophysic dysplasia 1
  • p.Gly267Val Single submitter lethal short-limb skeletal dysplasia, Al Gazali type

Conflicting classifications of pathogenicity 30

  • c.2089-4C>A Single submitter geleophysic dysplasia 1
  • c.2416-9C>T Single submitter geleophysic dysplasia 1
  • c.2592+13C>T Single submitter geleophysic dysplasia 1
  • c.*287C>A Single submitter geleophysic dysplasia 1
  • p.Ala358= Single submitter geleophysic dysplasia 1
  • p.Ala669= Single submitter geleophysic dysplasia 1
  • p.Ala840= Single submitter geleophysic dysplasia 1
  • p.Arg159Trp Single submitter geleophysic dysplasia 1 ⚠
  • p.Arg427His Single submitter geleophysic dysplasia 1 ⚠
  • p.Arg812= Single submitter geleophysic dysplasia 1
  • p.Asp605= Single submitter geleophysic dysplasia 1
  • p.Asp877= Single submitter geleophysic dysplasia 1
  • p.Glu114Lys Single submitter geleophysic dysplasia ⚠
  • p.Gly421Ser Single submitter Connective tissue dysplasia ⚠
  • p.Gly86= Single submitter geleophysic dysplasia 1
  • p.His130Tyr Single submitter Inborn genetic diseases ⚠
  • p.His547= Single submitter geleophysic dysplasia 1
  • p.His573= Single submitter geleophysic dysplasia 1
  • p.Pro106= Single submitter geleophysic dysplasia 1
  • p.Pro674= Single submitter geleophysic dysplasia 1
  • p.Pro683= Single submitter geleophysic dysplasia 1
  • p.Ser230= Single submitter geleophysic dysplasia 1
  • p.Ser519= Single submitter geleophysic dysplasia 1
  • p.Ser714= Single submitter geleophysic dysplasia 1
  • p.Ser775= Single submitter geleophysic dysplasia 1
  • p.Thr637= Single submitter geleophysic dysplasia 1
  • p.Thr679Ser Single submitter geleophysic dysplasia 1 ⚠
  • p.Val20Ile Single submitter geleophysic dysplasia 1 ⚠
  • p.Val771= Single submitter geleophysic dysplasia 1
  • p.Val871= Single submitter geleophysic dysplasia 1

Benign 47

Benign/Likely benign 3

  • c.310-9G>A Multiple submitters geleophysic dysplasia 1
  • p.Ala410= Multiple submitters geleophysic dysplasia 1
  • p.Val364Ile Multiple submitters geleophysic dysplasia 1

Likely benign 43

Uncertain significance 197