Sugi Variant

Sugi Variant/DHX37

DHX37 — 610 ClinVar variants

All ClinVar germline DHX37 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 324 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 17 Conflicting · 61 Benign · 2 Benign/Likely benign · 183 Likely benign · 331 Uncertain significance

Full DHX37 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 324

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 7

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

Predictors lean, ClinVar uncertain 124

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

Predictors split 191

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 191

All DHX37 variants

Pathogenic 4

  • p.Arg308Gln Multiple submitters 46,XY sex reversal 11
  • p.Leu467= No assertion criteria neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
  • p.Ser595Phe No assertion criteria 46,XY sex reversal 11
  • p.Thr304Met No assertion criteria 46,XY sex reversal 11

Pathogenic/Likely pathogenic 1

  • p.Val731Met No assertion criteria neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies ⚠

Likely pathogenic 11

  • p.Arg674Trp Multiple submitters 46,XY sex reversal 11
  • c.3217-1G>T Single submitter neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
  • p.Arg674Gln Single submitter 46,XY sex reversal 11
  • p.Arg792Ter Single submitter neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
  • p.Asn419Lys Single submitter Abnormal brain morphology ⚠
  • p.Asn900Asp Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
  • p.Gln921Arg Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
  • p.Ser626Leu Single submitter 46,XY sex reversal 11
  • p.Thr727fs Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
  • p.Asp382Gly No assertion criteria Neurodevelopmental delay
  • p.Thr1094Met No assertion criteria Neurodevelopmental disorders ⚠

Conflicting classifications of pathogenicity 17

Benign 61

Benign/Likely benign 2

Likely benign 183

Uncertain significance 331

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