Sugi Variant

Sugi Variant/ADAMTS17

ADAMTS17 — 1439 ClinVar variants

All ClinVar germline ADAMTS17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 475 flagged for review →

41 Pathogenic · 2 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 61 Conflicting · 209 Benign · 7 Benign/Likely benign · 496 Likely benign · 599 Uncertain significance

Full ADAMTS17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 475

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 1

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

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 265

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 265

Predictors split 193

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 193

All ADAMTS17 variants

Pathogenic 41

Pathogenic/Likely pathogenic 2

  • p.Arg433Ter Multiple submitters Weill-Marchesani 4 syndrome, recessive
  • p.Arg854Ter Multiple submitters Weill-Marchesani 4 syndrome, recessive

Likely pathogenic 24

Conflicting classifications of pathogenicity 61

  • c.1075+10G>C Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.1323-12C>T Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.1888+9A>C Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.1889-14C>T Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.2017-10G>C Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.2592-10C>T Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.2592-9G>A Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.2592-9G>T Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.2950-6C>T Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.3127+12C>T Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.789+15G>A Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.789+9G>A Single submitter Weill-Marchesani 4 syndrome, recessive
  • c.80-10C>G Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Ala529= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Ala56= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Ala625Ser Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Ala649= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Ala788= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Arg288Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg614Pro Single submitter Inborn genetic diseases ⚠
  • p.Asn1033= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Cys1023Tyr Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Cys689= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Cys933= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Cys955= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Gln608= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Gln791Arg Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Glu251Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu301= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Glu416= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Glu78Gly Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Gly1005= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Gly641= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.His668= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Ile680= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Leu237= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Lys183Arg Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Lys642_Glu643dup Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Lys703= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Phe439Leu Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Pro1092Leu Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Pro354= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Pro462= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Pro466= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Pro583Leu Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Pro657= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Pro72Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro783Leu Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Pro8Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro961= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Ser1015Leu Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Ser1095= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Ser430Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser717Leu Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Thr259= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Thr357= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Thr451= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Trp212Arg Single submitter Inborn genetic diseases ⚠
  • p.Tyr661His Single submitter Weill-Marchesani 4 syndrome, recessive ⚠
  • p.Val336= Single submitter Weill-Marchesani 4 syndrome, recessive
  • p.Val35= Single submitter Weill-Marchesani 4 syndrome, recessive

Benign 209

Benign/Likely benign 7

  • c.3128-12C>T Multiple submitters Weill-Marchesani 4 syndrome, recessive
  • c.3128-6C>T Multiple submitters Weill-Marchesani 4 syndrome, recessive
  • p.Arg1041= Multiple submitters
  • p.Arg566= Multiple submitters Weill-Marchesani 4 syndrome, recessive
  • p.Asp434= Multiple submitters Weill-Marchesani 4 syndrome, recessive
  • p.His589= Multiple submitters Weill-Marchesani 4 syndrome, recessive
  • p.Lys833= Multiple submitters Weill-Marchesani 4 syndrome, recessive

Likely benign 496

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

Uncertain significance 599

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