Sugi Variant

Sugi Variant/CHSY1

CHSY1 — 313 ClinVar variants

All ClinVar germline CHSY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →

8 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 34 Benign · 12 Benign/Likely benign · 71 Likely benign · 182 Uncertain significance

Full CHSY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 179

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 lean, ClinVar uncertain 93

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

Predictors split 86

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

All CHSY1 variants

Pathogenic 8

  • p.Gln475Ter Single submitter Inborn genetic diseases
  • p.Glu33fs Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu303fs Single submitter temtamy preaxial brachydactyly syndrome
  • c.321-3C>G No assertion criteria temtamy preaxial brachydactyly syndrome
  • p.Gln69Ter No assertion criteria temtamy preaxial brachydactyly syndrome
  • p.Gly19_Leu28del No assertion criteria temtamy preaxial brachydactyly syndrome
  • p.Gly5fs No assertion criteria temtamy preaxial brachydactyly syndrome
  • p.Pro539Arg No assertion criteria temtamy preaxial brachydactyly syndrome

Likely pathogenic 1

Conflicting classifications of pathogenicity 5

  • p.Arg7= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ile534= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Lys163= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Pro73= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Tyr443Cys Single submitter Inborn genetic diseases ⚠

Benign 34

  • c.320+80G>T Multiple submitters
  • c.-197C>T Multiple submitters
  • c.-70C>T Multiple submitters
  • p.Arg101= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Arg588Thr Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Arg705Gln Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Gln491= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Gly178= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Gly19= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Lys351Arg Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Pro359Ser Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Thr774= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Tyr434= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Val604= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Val632= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Val635= Multiple submitters temtamy preaxial brachydactyly syndrome
  • c.320+130G>T Single submitter
  • c.320+204C>A Single submitter
  • c.320+6C>T Single submitter temtamy preaxial brachydactyly syndrome
  • c.321-123G>A Single submitter
  • c.321-138G>A Single submitter
  • c.816+151del Single submitter
  • c.816+238C>A Single submitter
  • c.816+244C>T Single submitter
  • c.816+261C>G Single submitter
  • c.817-11dup Single submitter temtamy preaxial brachydactyly syndrome
  • c.817-195C>G Single submitter
  • c.-233C>T Single submitter
  • c.-32GGC[9] Single submitter
  • p.Asp575= Single submitter temtamy preaxial brachydactyly syndrome
  • p.His744= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ser191= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ser325= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Thr734= Single submitter temtamy preaxial brachydactyly syndrome

Benign/Likely benign 12

  • p.Asn85= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Asp141= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Asp406= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Gly222= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Gly38= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Leu567= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Lys111= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Met442Thr Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Phe506= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Pro392= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Ser522= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Thr696= Multiple submitters temtamy preaxial brachydactyly syndrome

Likely benign 71

  • p.Ala68Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gln653Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Leu514= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Leu87= Multiple submitters temtamy preaxial brachydactyly syndrome
  • p.Thr204= Multiple submitters temtamy preaxial brachydactyly syndrome
  • c.320+196G>A Single submitter
  • c.320+20G>C Single submitter temtamy preaxial brachydactyly syndrome
  • c.321-268C>T Single submitter
  • c.816+10G>C Single submitter temtamy preaxial brachydactyly syndrome
  • c.816+10G>T Single submitter temtamy preaxial brachydactyly syndrome
  • c.816+290T>C Single submitter
  • c.817-11T>C Single submitter temtamy preaxial brachydactyly syndrome
  • c.817-172A>G Single submitter
  • c.817-6450_817-6449insGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGACGGTGCTCCATGGAGGGCGTTCACAGGGAAGGG Single submitter
  • c.817-6T>G Single submitter temtamy preaxial brachydactyly syndrome
  • c.817-9142T>C Single submitter
  • p.Ala102= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ala490= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ala494= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ala58= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ala680= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Arg260= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Arg290= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Arg336= Single submitter
  • p.Arg40= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Arg736= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Arg82= Single submitter
  • p.Asn498= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Asn562Ser Single submitter Inborn genetic diseases
  • p.Asp172= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Asp173= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Asp252= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Asp389= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Asp531Glu Single submitter Inborn genetic diseases
  • p.Asp631= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Cys630= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Gln266= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Gln642= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Gln776= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Glu46= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Gly215= Single submitter temtamy preaxial brachydactyly syndrome
  • p.His159= Single submitter temtamy preaxial brachydactyly syndrome
  • p.His470= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ile408= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ile432= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ile538= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu10= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu13= Single submitter
  • p.Leu14= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu16= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu188= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu194= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu334= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu405= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Leu519Ile Single submitter temtamy preaxial brachydactyly syndrome
  • p.Lys784= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Pro144= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Pro45= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Pro516= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Pro674= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Pro72= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ser321= Single submitter
  • p.Ser769= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Ter803= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Thr464= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Thr801= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Thr93= Single submitter
  • p.Tyr271= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Tyr281= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Val139= Single submitter temtamy preaxial brachydactyly syndrome
  • p.Val17= Single submitter temtamy preaxial brachydactyly syndrome

Uncertain significance 182