RPS6KB2 — 91 ClinVar variants

All ClinVar germline RPS6KB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

3 Likely benign · 88 Uncertain significance

Full RPS6KB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 63

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

Predictors split 19

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

All RPS6KB2 variants

Likely benign 3

c.907-5C>T Single submitter
p.Thr170= Single submitter
c.*7G>T No assertion criteria RPS6KB2-related disorder

Uncertain significance 88

p.Ala104Thr Single submitter
p.Ala257Pro Single submitter ⚠
p.Ala271Ser Single submitter ⚠
p.Ala380Thr Single submitter ⚠
p.Ala383Val Single submitter ⚠
p.Arg117Gln Single submitter ⚠
p.Arg117Trp Single submitter ⚠
p.Arg162Gln Single submitter ⚠
p.Arg193Trp Single submitter ⚠
p.Arg243Cys Single submitter ⚠
p.Arg248Gln Single submitter ⚠
p.Arg274Gln Single submitter ⚠
p.Arg274Trp Single submitter ⚠
p.Arg297Gln Single submitter ⚠
p.Arg297Gly Single submitter
p.Arg306Leu Single submitter ⚠
p.Arg329Trp Single submitter ⚠
p.Arg364Gln Single submitter ⚠
p.Arg409His Single submitter ⚠
p.Arg419Trp Single submitter ⚠
p.Arg434Trp Single submitter ⚠
p.Arg479His Single submitter ⚠
p.Arg71Cys Single submitter ⚠
p.Asn247Lys Single submitter ⚠
p.Asn247Ser Single submitter ⚠
p.Asp261Asn Single submitter ⚠
p.Asp295His Single submitter
p.Asp321Val Single submitter ⚠
p.Asp8Gly Single submitter ⚠
p.Cys172Gly Single submitter ⚠
p.Gln323Pro Single submitter ⚠
p.Glu133Lys Single submitter ⚠
p.Glu198Lys Single submitter ⚠
p.Gly141Cys Single submitter ⚠
p.Gly284Ser Single submitter ⚠
p.His115Arg Single submitter ⚠
p.His186Arg Single submitter ⚠
p.His227Gln Single submitter ⚠
p.His330Asp Single submitter ⚠
p.His65Arg Single submitter ⚠
p.Ile178Val Single submitter ⚠
p.Ile281Phe Single submitter ⚠
p.Leu255Val Single submitter ⚠
p.Leu258Val Single submitter ⚠
p.Leu304Gln Single submitter ⚠
p.Leu385Val Single submitter ⚠
p.Leu450Phe Single submitter ⚠
p.Lys301Arg Single submitter ⚠
p.Lys75Gln Single submitter ⚠
p.Met259Ile Single submitter ⚠
p.Met262Lys Single submitter ⚠
p.Met331Thr Single submitter ⚠
p.Phe173Leu Single submitter ⚠
p.Phe303Leu Single submitter ⚠
p.Phe384Leu Single submitter ⚠
p.Phe433Ser Single submitter ⚠
p.Pro290Leu Single submitter ⚠
p.Pro290Ser Single submitter ⚠
p.Pro294Leu Single submitter ⚠
p.Pro347Ser Single submitter ⚠
p.Pro392Leu Single submitter ⚠
p.Pro406Leu Single submitter
p.Pro418Thr Single submitter ⚠
p.Pro429Leu Single submitter ⚠
p.Pro429Ser Single submitter ⚠
p.Pro449Leu Single submitter ⚠
p.Pro453Leu Single submitter ⚠
p.Pro454Leu Single submitter ⚠
p.Pro455Ser Single submitter ⚠
p.Pro461Ser Single submitter ⚠
p.Pro467Arg Single submitter ⚠
p.Pro467Leu Single submitter ⚠
p.Ser152Asn Single submitter ⚠
p.Ser187Phe Single submitter ⚠
p.Ser244Arg Single submitter ⚠
p.Ser379Thr Single submitter ⚠
p.Ser393Phe Single submitter ⚠
p.Ser457Leu Single submitter ⚠
p.Thr179Met Single submitter ⚠
p.Thr366Met Single submitter ⚠
p.Trp252Ser Single submitter ⚠
p.Tyr136Cys Single submitter ⚠
p.Tyr192Cys Single submitter ⚠
p.Tyr291Cys Single submitter
p.Tyr96His Single submitter ⚠
p.Val355Met Single submitter
p.Val368Met Single submitter ⚠
p.Val390Ala Single submitter ⚠