RBM28 — 151 ClinVar variants
All ClinVar germline RBM28 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 7 Benign · 3 Benign/Likely benign · 33 Likely benign · 103 Uncertain significance
Full RBM28 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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RBM28 p.Ala316Ser
Likely pathogenic
Single submitter
ANE syndrome
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RBM28 p.Arg582Gln
Uncertain significance
Multiple submitters
ANE syndrome
- RBM28 p.Ala110Glu Uncertain significance Single submitter
- RBM28 p.Ala271Thr Uncertain significance Single submitter
- RBM28 p.Ala417Val Uncertain significance Single submitter
- RBM28 p.Ala545Val Uncertain significance Single submitter
- RBM28 p.Ala553Thr Uncertain significance Single submitter
- RBM28 p.Ala642Val Uncertain significance Single submitter
- RBM28 p.Arg119Gln Uncertain significance Single submitter
- RBM28 p.Arg119Trp Uncertain significance Single submitter
- RBM28 p.Arg182Gln Uncertain significance Single submitter
- RBM28 p.Arg223Thr Uncertain significance Single submitter
- RBM28 p.Arg420Cys Uncertain significance Single submitter
- RBM28 p.Arg438Trp Uncertain significance Single submitter
- RBM28 p.Arg45Pro Uncertain significance Single submitter
- RBM28 p.Arg526Gly Uncertain significance Single submitter
- RBM28 p.Arg594His Uncertain significance Single submitter
- RBM28 p.Arg729His Uncertain significance Single submitter
- RBM28 p.Asn400Ile Uncertain significance Single submitter
- RBM28 p.Asn74Asp Uncertain significance Single submitter
- RBM28 p.Asp234Asn Uncertain significance Single submitter
- RBM28 p.Asp234Gly Uncertain significance Single submitter
- RBM28 p.Asp306Gly Uncertain significance Single submitter
- RBM28 p.Cys71Ser Uncertain significance Single submitter
- RBM28 p.Gln215His Uncertain significance Single submitter
- RBM28 p.Gln268Arg Uncertain significance Single submitter
- RBM28 p.Gln382Arg Uncertain significance Single submitter
- RBM28 p.Gln502Arg Uncertain significance Single submitter
- RBM28 p.Gln538Arg Uncertain significance Single submitter
- RBM28 p.Gln597Glu Uncertain significance Single submitter
- RBM28 p.Gln620Arg Uncertain significance Single submitter
- RBM28 p.Gln739Arg Uncertain significance Single submitter
- RBM28 p.Glu285Gly Uncertain significance Single submitter
- RBM28 p.Glu353Gly Uncertain significance Single submitter
- RBM28 p.Glu399Gln Uncertain significance Single submitter
- RBM28 p.Glu96Gly Uncertain significance Single submitter
- RBM28 p.Gly157Arg Uncertain significance Single submitter
- RBM28 p.Gly173Ala Uncertain significance Single submitter
- RBM28 p.Gly457Arg Uncertain significance Single submitter
- RBM28 p.Gly530Arg Uncertain significance Single submitter
- RBM28 p.Ile366Val Uncertain significance Single submitter
- RBM28 p.Leu164Phe Uncertain significance Single submitter
- RBM28 p.Leu351Arg Uncertain significance Single submitter
- RBM28 p.Leu407Pro Uncertain significance Single submitter
- RBM28 p.Leu742Met Uncertain significance Single submitter
- RBM28 p.Lys376Glu Uncertain significance Single submitter
- RBM28 p.Lys413Arg Uncertain significance Single submitter
- RBM28 p.Lys529Arg Uncertain significance Single submitter
- RBM28 p.Lys653Glu Uncertain significance Single submitter
- RBM28 p.Lys91Glu Uncertain significance Single submitter
- RBM28 p.Pro102Arg Uncertain significance Single submitter
- RBM28 p.Pro434Leu Uncertain significance Single submitter
- RBM28 p.Pro615Ser Uncertain significance Single submitter
- RBM28 p.Pro635Ser Uncertain significance Single submitter
- RBM28 p.Pro749Leu Uncertain significance Single submitter
- RBM28 p.Ser259Leu Uncertain significance Single submitter
- RBM28 p.Ser539Phe Uncertain significance Single submitter
- RBM28 p.Ser595Gly Uncertain significance Single submitter
- RBM28 p.Ser717Phe Uncertain significance Single submitter
- RBM28 p.Thr336Ile Uncertain significance Single submitter
- RBM28 p.Thr511Ile Uncertain significance Single submitter
-
RBM28 p.Thr728Ser
Uncertain significance
Single submitter
ANE syndrome
- RBM28 p.Thr76Ile Uncertain significance Single submitter
- RBM28 p.Trp188Cys Uncertain significance Single submitter
- RBM28 p.Trp704Gly Uncertain significance Single submitter
- RBM28 p.Tyr441Cys Uncertain significance Single submitter
- RBM28 p.Tyr441Ser Uncertain significance Single submitter
- RBM28 p.Tyr737His Uncertain significance Single submitter
- RBM28 p.Val190Met Uncertain significance Single submitter
- RBM28 p.Val261Leu Uncertain significance Single submitter
- RBM28 p.Val265Met Uncertain significance Single submitter
- RBM28 p.Val337Ala Uncertain significance Single submitter
- RBM28 p.Val75Met Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- RBM28 p.Asp240His Benign Multiple submitters
- RBM28 p.Asp758Gly Benign/Likely benign Multiple submitters
- RBM28 p.Arg365Cys Uncertain significance Single submitter
- RBM28 p.Arg45Gln Uncertain significance Single submitter
- RBM28 p.Arg468Trp Uncertain significance Single submitter
- RBM28 p.Arg729Cys Likely benign Single submitter
- RBM28 p.Asn481Lys Uncertain significance Single submitter
- RBM28 p.Asp240Val Uncertain significance Single submitter
- RBM28 p.Asp248His Uncertain significance Single submitter
- RBM28 p.Cys44Ser Uncertain significance Single submitter
- RBM28 p.Gln136His Uncertain significance Single submitter
- RBM28 p.Gln357His Uncertain significance Single submitter
-
RBM28 p.Gln382Pro
Uncertain significance
Single submitter
ANE syndrome
- RBM28 p.Glu551Lys Uncertain significance Single submitter
-
RBM28 p.Glu576Asp
Uncertain significance
Single submitter
microcephaly
- RBM28 p.Gly173Arg Uncertain significance Single submitter
- RBM28 p.Gly649Arg Uncertain significance Single submitter
- RBM28 p.His374Tyr Uncertain significance Single submitter
- RBM28 p.Leu361Phe Uncertain significance Single submitter
- RBM28 p.Lys473Asn Uncertain significance Single submitter
- RBM28 p.Pro603His Uncertain significance Single submitter
- RBM28 p.Ser25Arg Uncertain significance Single submitter
- RBM28 p.Thr452Met Uncertain significance Single submitter
- RBM28 p.Val184Leu Uncertain significance Single submitter
All RBM28 variants
Pathogenic 2
- c.541+1del Single submitter ANE syndrome
- p.Leu351Pro No assertion criteria ANE syndrome
Likely pathogenic 2
- p.Ala316Ser Single submitter ANE syndrome ⚠
- p.Val498fs No assertion criteria ANE syndrome
Conflicting classifications of pathogenicity 1
- p.Asn94Tyr Single submitter ⚠
Benign 7
- p.Ala672Val Multiple submitters
- p.Asp240His Multiple submitters ⚠
- p.Glu243del Multiple submitters
- p.Lys536= Multiple submitters
- c.*2101_*10851dup Single submitter
- p.Asn561= Single submitter
- p.Gln710= No assertion criteria RBM28-related disorder
Benign/Likely benign 3
- p.Asp758Gly Multiple submitters ⚠
- p.Pro102= Multiple submitters
- p.Pro29= Multiple submitters
Likely benign 33
- p.Arg518Cys Multiple submitters
- p.His693Tyr Multiple submitters
- p.Ser712Leu Multiple submitters
- p.Thr648= Multiple submitters
- p.Thr726= Multiple submitters
- c.1020-18T>C Single submitter
- c.119-1360G>A Single submitter
- c.1563+7C>T Single submitter
- c.277+7T>G Single submitter
- c.449-7C>T Single submitter
- p.Ala402= Single submitter
- p.Ala417= Single submitter
- p.Arg486Gln Single submitter
- p.Arg729Cys Single submitter ⚠
- p.Asn74= Single submitter
- p.Asp197= Single submitter
- p.Asp241Glu Single submitter
- p.Gln736= Single submitter
- p.Glu88= Single submitter
- p.Gly606Asp Single submitter
- p.Lys696= Single submitter
- p.Met463Leu Single submitter
- p.Phe338= Single submitter
- p.Phe650= Single submitter
- p.Pro102Leu Single submitter
- p.Ser293= Single submitter
- p.Thr262= Single submitter
- p.Thr428= Single submitter
- p.Val331= Single submitter
- p.Val692Ile Single submitter
- p.Glu422= No assertion criteria RBM28-related disorder
- p.Leu673= No assertion criteria RBM28-related disorder
- p.Thr132= No assertion criteria RBM28-related disorder
Uncertain significance 103
- p.Arg582Gln Multiple submitters ANE syndrome ⚠
- c.1788+3A>C Single submitter
- p.Ala110Glu Single submitter ⚠
- p.Ala271Thr Single submitter ⚠
- p.Ala417Val Single submitter ⚠
- p.Ala545Val Single submitter ⚠
- p.Ala553Thr Single submitter ⚠
- p.Ala642Val Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg154Cys Single submitter
- p.Arg154fs Single submitter ANE syndrome
- p.Arg182Gln Single submitter ⚠
- p.Arg223Thr Single submitter ⚠
- p.Arg270= Single submitter
- p.Arg365Cys Single submitter ⚠
- p.Arg420Cys Single submitter ⚠
- p.Arg438Trp Single submitter ⚠
- p.Arg45Gln Single submitter ⚠
- p.Arg45Pro Single submitter ⚠
- p.Arg468Trp Single submitter ⚠
- p.Arg526Gly Single submitter ⚠
- p.Arg594His Single submitter ⚠
- p.Arg729His Single submitter ⚠
- p.Asn400Ile Single submitter ⚠
- p.Asn481Lys Single submitter ⚠
- p.Asn74Asp Single submitter ⚠
- p.Asp234Asn Single submitter ⚠
- p.Asp234Gly Single submitter ⚠
- p.Asp240Val Single submitter ⚠
- p.Asp248His Single submitter ⚠
- p.Asp306Gly Single submitter ⚠
- p.Cys44Ser Single submitter ⚠
- p.Cys71Ser Single submitter ⚠
- p.Gln136His Single submitter ⚠
- p.Gln215His Single submitter ⚠
- p.Gln268Arg Single submitter ⚠
- p.Gln357His Single submitter ⚠
- p.Gln382Arg Single submitter ⚠
- p.Gln382Pro Single submitter ANE syndrome ⚠
- p.Gln502Arg Single submitter ⚠
- p.Gln538Arg Single submitter ⚠
- p.Gln597Glu Single submitter ⚠
- p.Gln620Arg Single submitter ⚠
- p.Gln700Ter Single submitter
- p.Gln732Ter Single submitter
- p.Gln739Arg Single submitter ⚠
- p.Glu285Gly Single submitter ⚠
- p.Glu353Gly Single submitter ⚠
- p.Glu399Gln Single submitter ⚠
- p.Glu551Lys Single submitter ⚠
- p.Glu576Asp Single submitter microcephaly ⚠
- p.Glu96Gly Single submitter ⚠
- p.Gly157Arg Single submitter ⚠
- p.Gly173Ala Single submitter ⚠
- p.Gly173Arg Single submitter ⚠
- p.Gly457Arg Single submitter ⚠
- p.Gly530Arg Single submitter ⚠
- p.Gly649Arg Single submitter ⚠
- p.His374Tyr Single submitter ⚠
- p.Ile366Val Single submitter ⚠
- p.Leu164Phe Single submitter ⚠
- p.Leu351Arg Single submitter ⚠
- p.Leu361Phe Single submitter ⚠
- p.Leu407Pro Single submitter ⚠
- p.Leu742Met Single submitter ⚠
- p.Lys376Glu Single submitter ⚠
- p.Lys413Arg Single submitter ⚠
- p.Lys473Asn Single submitter ⚠
- p.Lys529Arg Single submitter ⚠
- p.Lys653Glu Single submitter ⚠
- p.Lys91Glu Single submitter ⚠
- p.Met153fs Single submitter
- p.Met174Lys Single submitter
- p.Pro102Arg Single submitter ⚠
- p.Pro434Leu Single submitter ⚠
- p.Pro603His Single submitter ⚠
- p.Pro615Ser Single submitter ⚠
- p.Pro635Ser Single submitter ⚠
- p.Pro749Leu Single submitter ⚠
- p.Ser209fs Single submitter ANE syndrome
- p.Ser259Leu Single submitter ⚠
- p.Ser25Arg Single submitter ⚠
- p.Ser539Phe Single submitter ⚠
- p.Ser595Gly Single submitter ⚠
- p.Ser717Phe Single submitter ⚠
- p.Thr336Ile Single submitter ⚠
- p.Thr452fs Single submitter
- p.Thr452Met Single submitter ⚠
- p.Thr511Ile Single submitter ⚠
- p.Thr728Ser Single submitter ANE syndrome ⚠
- p.Thr76Ile Single submitter ⚠
- p.Trp188Cys Single submitter ⚠
- p.Trp704Gly Single submitter ⚠
- p.Tyr441Cys Single submitter ⚠
- p.Tyr441Ser Single submitter ⚠
- p.Tyr737His Single submitter ⚠
- p.Val184Leu Single submitter ⚠
- p.Val190Met Single submitter ⚠
- p.Val261Leu Single submitter ⚠
- p.Val265Met Single submitter ⚠
- p.Val337Ala Single submitter ⚠
- p.Val75Met Single submitter ⚠