RHOH — 88 ClinVar variants

All ClinVar germline RHOH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →

2 Benign/Likely benign · 47 Likely benign · 39 Uncertain significance

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

⚑ Evidence disagreements 36

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 28

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

Predictors split 8

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

All RHOH variants

Benign/Likely benign 2

  • p.Ala170= Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Asp48= Multiple submitters epidermodysplasia verruciformis, susceptibility to, 4

Likely benign 47

  • p.Ala14= Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Ala166= Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Asp77= Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Cys165= Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Leu9= Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Tyr73= Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Val171Ile Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis
  • c.-1G>A Single submitter
  • p.Ala133= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Ala60= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Ala64= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Arg157= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Arg179= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Arg69= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Asn186= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Asn96= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Asp44= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Asp58= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Asp63= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Cys130= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Cys7= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Gln120= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Gly11= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Gly136= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Gly147= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Gly16= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Gly42= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Gly55= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Ile190= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Leu112= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Leu139= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Leu149= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Leu182= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Leu94= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Lys6= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Pro30= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Pro35= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Pro70= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Ser26= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Ser53= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Ser84= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Thr25= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Tyr33= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Tyr38= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Val113= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Val15= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Val43= Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis

Uncertain significance 39

  • p.Arg157Gln Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Gly61Ser Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Ser104Gly Multiple submitters T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Ala166Thr Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Ala32Val Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Ala64Ser Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Ala76Pro Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Arg168Gln Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Arg177Gln Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Arg180Trp Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Arg181del Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Arg69Trp Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Asn132Ser Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Asn172Ser Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Asp63Val Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Gln141Arg Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Gln160Ter Single submitter epidermodysplasia verruciformis, susceptibility to, 4
  • p.Gln75Pro Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.His88Arg Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Ile68Val Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Leu139Val Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Leu56Phe Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Lys146Gln Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Lys146Thr Single submitter ⚠
  • p.Lys34Arg Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Met123Leu Single submitter ⚠
  • p.Met134Thr Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Met47Leu Single submitter ⚠
  • p.Met81Val Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Pro110fs Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis
  • p.Pro30Arg Single submitter ⚠
  • p.Pro30Leu Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Pro30Ser Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Ser104Asn Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Ser155Asn Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Tyr73Cys Single submitter ⚠
  • p.Val10Ala Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Val111Leu Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠
  • p.Val131Ile Single submitter T-cell immunodeficiency with epidermodysplasia verruciformis ⚠