RHOT2 — 149 ClinVar variants

All ClinVar germline RHOT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →

6 Benign · 20 Likely benign · 123 Uncertain significance

Full RHOT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 114

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 94

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

Predictors split 20

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

All RHOT2 variants

Benign 6

p.Ala284= Multiple submitters
p.Ala533Thr Multiple submitters
p.His379= Multiple submitters
p.Leu287= Multiple submitters
p.Pro183= Multiple submitters
p.Pro539= Single submitter

Likely benign 20

c.276+6C>T Single submitter
p.Ala279Ser Single submitter
p.Ala454Thr Single submitter
p.Ala533Val Single submitter
p.Ala575Thr Single submitter
p.Arg242Gln Single submitter
p.Arg320His Single submitter
p.Arg69Gln Single submitter
p.Gln107Arg Single submitter
p.Glu541Lys Single submitter
p.Gly440Ser Single submitter
p.Gly593Val Single submitter
p.His395Arg Single submitter
p.Leu304Phe Single submitter
p.Leu570= Single submitter
p.Pro357Ser Single submitter
p.Ser375Arg Single submitter
p.Thr231Met Single submitter
p.Val327Met Single submitter
p.Val598Leu Single submitter

Uncertain significance 123

p.Ala162Thr Single submitter ⚠
p.Ala178Thr Single submitter ⚠
p.Ala184Thr Single submitter ⚠
p.Ala184Val Single submitter ⚠
p.Ala186Thr Single submitter ⚠
p.Ala186Val Single submitter ⚠
p.Ala203Val Single submitter ⚠
p.Ala211Thr Single submitter ⚠
p.Ala431Val Single submitter ⚠
p.Ala484Thr Single submitter ⚠
p.Ala571Thr Single submitter ⚠
p.Ala601Thr Single submitter ⚠
p.Ala604Thr Single submitter ⚠
p.Ala75Thr Single submitter ⚠
p.Ala88Val Single submitter ⚠
p.Arg191His Single submitter
p.Arg245Gly Single submitter ⚠
p.Arg263Trp Single submitter ⚠
p.Arg273Cys Single submitter ⚠
p.Arg273His Single submitter ⚠
p.Arg311Ser Single submitter ⚠
p.Arg350His Single submitter ⚠
p.Arg414Gln Single submitter
p.Arg414Trp Single submitter ⚠
p.Arg439Cys Single submitter ⚠
p.Arg439Leu Single submitter ⚠
p.Arg544Cys Single submitter ⚠
p.Arg547Trp Single submitter ⚠
p.Arg592Trp Single submitter ⚠
p.Arg612Ser Single submitter ⚠
p.Arg6Cys Single submitter ⚠
p.Arg6Leu Single submitter ⚠
p.Arg94Gly Single submitter ⚠
p.Asp228Asn Single submitter
p.Asp244Gly Single submitter ⚠
p.Asp317Asn Single submitter ⚠
p.Asp392Asn Single submitter ⚠
p.Asp475Gly Single submitter ⚠
p.Asp4Gly Single submitter
p.Cys144Phe Single submitter ⚠
p.Cys144Tyr Single submitter ⚠
p.Cys486Arg Single submitter ⚠
p.Gln107Glu Single submitter ⚠
p.Gln224Arg Single submitter ⚠
p.Gln459Arg Single submitter ⚠
p.Glu177Asp Single submitter ⚠
p.Glu207Lys Single submitter ⚠
p.Glu448Lys Single submitter ⚠
p.Glu530Lys Single submitter ⚠
p.Glu561Lys Single submitter ⚠
p.Glu66Lys Single submitter ⚠
p.Glu71Asp Single submitter ⚠
p.Glu71Lys Single submitter ⚠
p.Gly125Glu Single submitter ⚠
p.Gly275Ser Single submitter ⚠
p.Gly410Arg Single submitter ⚠
p.Gly438Ser Single submitter ⚠
p.Gly442Trp Single submitter ⚠
p.His219Gln Single submitter ⚠
p.His303Tyr Single submitter ⚠
p.His503Arg Single submitter ⚠
p.His581Tyr Single submitter ⚠
p.Ile113Met Single submitter ⚠
p.Ile114Leu Single submitter
p.Ile141Thr Single submitter ⚠
p.Ile155Thr Single submitter ⚠
p.Ile155Val Single submitter ⚠
p.Ile40Phe Single submitter ⚠
p.Ile72Met Single submitter ⚠
p.Leu167Arg Single submitter ⚠
p.Leu173Ile Single submitter ⚠
p.Leu195Val Single submitter ⚠
p.Leu204Pro Single submitter ⚠
p.Leu287Phe Single submitter ⚠
p.Leu324Phe Single submitter
p.Leu329Arg Single submitter ⚠
p.Leu377Pro Single submitter ⚠
p.Leu579Phe Single submitter ⚠
p.Lys509Thr Single submitter
p.Met573Arg Single submitter ⚠
p.Phe251Ser Single submitter ⚠
p.Phe29Leu Single submitter ⚠
p.Phe308Leu Single submitter ⚠
p.Pro112Ser Single submitter ⚠
p.Pro172Arg Single submitter ⚠
p.Pro223Leu Single submitter ⚠
p.Pro289Leu Single submitter ⚠
p.Pro289Ser Single submitter ⚠
p.Pro30Ser Single submitter ⚠
p.Pro326Leu Single submitter ⚠
p.Pro343Leu Single submitter ⚠
p.Pro451Leu Single submitter ⚠
p.Pro451Thr Single submitter ⚠
p.Pro537Arg Single submitter ⚠
p.Pro539Leu Single submitter ⚠
p.Pro549Arg Single submitter ⚠
p.Pro586His Single submitter ⚠
p.Pro586Ser Single submitter ⚠
p.Ser148Leu Single submitter ⚠
p.Ser325Leu Single submitter ⚠
p.Ser334Asn Single submitter ⚠
p.Ser506Thr Single submitter ⚠
p.Ser523Phe Single submitter ⚠
p.Thr190Met Single submitter ⚠
p.Thr256Ala Single submitter ⚠
p.Thr266Ala Single submitter ⚠
p.Thr299Arg Single submitter ⚠
p.Thr398Arg Single submitter ⚠
p.Thr446Met Single submitter ⚠
p.Thr457Met Single submitter ⚠
p.Thr517Asn Single submitter ⚠
p.Thr95Ala Single submitter ⚠
p.Tyr306Cys Single submitter ⚠
p.Tyr611Cys Single submitter ⚠
p.Val15Gly Single submitter ⚠
p.Val166Ile Single submitter ⚠
p.Val25Gly Single submitter ⚠
p.Val309Gly Single submitter ⚠
p.Val312Met Single submitter ⚠
p.Val349Gly Single submitter
p.Val488Ile Single submitter ⚠
p.Val552Met Single submitter ⚠
p.Val80Ala Single submitter