RBM12 — 150 ClinVar variants
All ClinVar germline RBM12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
2 Pathogenic · 6 Benign · 20 Likely benign · 122 Uncertain significance
Full RBM12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBM12 p.Ala102Thr Uncertain significance Single submitter
- RBM12 p.Ala136Val Uncertain significance Single submitter
- RBM12 p.Ala331Val Uncertain significance Single submitter
- RBM12 p.Ala482Gly Uncertain significance Single submitter
- RBM12 p.Ala685Pro Uncertain significance Single submitter
- RBM12 p.Ala815Gly Uncertain significance Single submitter
- RBM12 p.Ala900Val Uncertain significance Single submitter
- RBM12 p.Arg328Cys Uncertain significance Single submitter
- RBM12 p.Arg498Cys Uncertain significance Single submitter
- RBM12 p.Arg599His Uncertain significance Single submitter
- RBM12 p.Arg59His Uncertain significance Single submitter
- RBM12 p.Arg603Cys Uncertain significance Single submitter
- RBM12 p.Arg603His Uncertain significance Single submitter
- RBM12 p.Arg606His Uncertain significance Single submitter
- RBM12 p.Arg907Gln Uncertain significance Single submitter
- RBM12 p.Asn281Asp Uncertain significance Single submitter
- RBM12 p.Asn300Ser Uncertain significance Single submitter
- RBM12 p.Asn318Asp Uncertain significance Single submitter
- RBM12 p.Asn497Ser Uncertain significance Single submitter
- RBM12 p.Asn654Asp Uncertain significance Single submitter
- RBM12 p.Asp538Ala Uncertain significance Single submitter
- RBM12 p.Asp749Glu Uncertain significance Single submitter
- RBM12 p.Asp96Glu Uncertain significance Single submitter
- RBM12 p.Gln291Glu Uncertain significance Single submitter
- RBM12 p.Gln562His Uncertain significance Single submitter
- RBM12 p.Gln634Arg Uncertain significance Single submitter
- RBM12 p.Glu703Lys Uncertain significance Single submitter
- RBM12 p.Glu892Gly Uncertain significance Single submitter
- RBM12 p.Gly436Ala Uncertain significance Single submitter
- RBM12 p.Gly509Ala Uncertain significance Single submitter
- RBM12 p.Gly509Val Uncertain significance Single submitter
- RBM12 p.Gly586Ala Uncertain significance Single submitter
- RBM12 p.Gly669Ser Uncertain significance Single submitter
- RBM12 p.Gly834Ser Uncertain significance Single submitter
- RBM12 p.Gly884Ser Uncertain significance Single submitter
- RBM12 p.His325Arg Uncertain significance Single submitter
- RBM12 p.His333Tyr Uncertain significance Single submitter
- RBM12 p.Ile208Leu Uncertain significance Single submitter
- RBM12 p.Ile838Val Uncertain significance Single submitter
- RBM12 p.Ile858Thr Uncertain significance Single submitter
- RBM12 p.Ile97Met Uncertain significance Single submitter
-
RBM12 p.Lys349Met
Uncertain significance
Single submitter
Neurodevelopmental delay
- RBM12 p.Lys392Arg Uncertain significance Single submitter
- RBM12 p.Lys926Glu Uncertain significance Single submitter
- RBM12 p.Met113Arg Uncertain significance Single submitter
- RBM12 p.Met266Ile Uncertain significance Single submitter
- RBM12 p.Met516Thr Uncertain significance Single submitter
- RBM12 p.Met531Arg Uncertain significance Single submitter
- RBM12 p.Met558Val Uncertain significance Single submitter
- RBM12 p.Met754Leu Uncertain significance Single submitter
- RBM12 p.Phe563Leu Uncertain significance Single submitter
-
RBM12 p.Pro11Thr
Uncertain significance
Single submitter
schizophrenia 19
- RBM12 p.Pro131Ser Uncertain significance Single submitter
- RBM12 p.Pro245Leu Uncertain significance Single submitter
- RBM12 p.Pro249Leu Uncertain significance Single submitter
- RBM12 p.Pro254Ser Uncertain significance Single submitter
- RBM12 p.Pro274Thr Uncertain significance Single submitter
- RBM12 p.Pro279Leu Uncertain significance Single submitter
- RBM12 p.Pro301Ser Uncertain significance Single submitter
- RBM12 p.Pro403Leu Uncertain significance Single submitter
- RBM12 p.Pro409Ala Uncertain significance Single submitter
- RBM12 p.Pro631His Uncertain significance Single submitter
- RBM12 p.Pro688Ser Uncertain significance Single submitter
- RBM12 p.Pro735Ser Uncertain significance Single submitter
- RBM12 p.Pro740Ser Uncertain significance Single submitter
- RBM12 p.Pro752Ala Uncertain significance Single submitter
- RBM12 p.Pro776Gln Uncertain significance Single submitter
- RBM12 p.Pro837Gln Uncertain significance Single submitter
- RBM12 p.Pro864Ser Uncertain significance Single submitter
- RBM12 p.Ser132Thr Uncertain significance Single submitter
- RBM12 p.Ser415Gly Uncertain significance Single submitter
- RBM12 p.Ser525Thr Uncertain significance Single submitter
- RBM12 p.Ser541Cys Uncertain significance Single submitter
- RBM12 p.Thr184Ala Uncertain significance Single submitter
- RBM12 p.Thr549Ala Uncertain significance Single submitter
- RBM12 p.Thr63Ala Uncertain significance Single submitter
- RBM12 p.Thr675Ile Uncertain significance Single submitter
- RBM12 p.Tyr526His Uncertain significance Single submitter
- RBM12 p.Val133Ala Uncertain significance Single submitter
- RBM12 p.Val133Leu Uncertain significance Single submitter
- RBM12 p.Val560Ile Uncertain significance Single submitter
- RBM12 p.Val578Ala Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- RBM12 p.Ala614Thr Uncertain significance Single submitter
- RBM12 p.Arg423Gly Uncertain significance Single submitter
- RBM12 p.Arg479Ile Uncertain significance Single submitter
- RBM12 p.Arg599Cys Uncertain significance Single submitter
- RBM12 p.Arg59Leu Uncertain significance Single submitter
- RBM12 p.Arg89Cys Uncertain significance Single submitter
- RBM12 p.Asn281Lys Uncertain significance Single submitter
- RBM12 p.Asn342Lys Uncertain significance Single submitter
- RBM12 p.Asp448His Uncertain significance Single submitter
- RBM12 p.Asp916Gly Uncertain significance Single submitter
- RBM12 p.Gly15Arg Uncertain significance Single submitter
- RBM12 p.Gly584Ser Uncertain significance Single submitter
- RBM12 p.Gly635Arg Uncertain significance Single submitter
- RBM12 p.Gly795Cys Uncertain significance Single submitter
- RBM12 p.Gly801Ser Uncertain significance Single submitter
- RBM12 p.Gly830Asp Uncertain significance Single submitter
- RBM12 p.Gly830Ser Uncertain significance Single submitter
- RBM12 p.His605Asp Uncertain significance Single submitter
- RBM12 p.Ile35Val Uncertain significance Single submitter
- RBM12 p.Ile389Thr Uncertain significance Single submitter
- RBM12 p.Lys600Asn Uncertain significance Single submitter
- RBM12 p.Lys68Glu Uncertain significance Single submitter
- RBM12 p.Lys859Asn Uncertain significance Single submitter
- RBM12 p.Met895Ile Uncertain significance Single submitter
- RBM12 p.Met895Thr Uncertain significance Single submitter
- RBM12 p.Phe166Leu Uncertain significance Single submitter
- RBM12 p.Pro169Arg Uncertain significance Single submitter
- RBM12 p.Pro186Arg Uncertain significance Single submitter
- RBM12 p.Pro209Ala Uncertain significance Single submitter
- RBM12 p.Pro209Thr Uncertain significance Single submitter
- RBM12 p.Pro233Leu Uncertain significance Single submitter
- RBM12 p.Pro234His Uncertain significance Single submitter
- RBM12 p.Pro234Leu Uncertain significance Single submitter
- RBM12 p.Pro803Leu Uncertain significance Single submitter
- RBM12 p.Thr77Met Uncertain significance Single submitter
- RBM12 p.Tyr484Cys Uncertain significance Single submitter
All RBM12 variants
Pathogenic 2
- p.Gly793Ter No assertion criteria schizophrenia 19
- p.Gly845fs No assertion criteria schizophrenia 19
Benign 6
- p.Ala195= Multiple submitters
- p.Asn572Ser Multiple submitters
- p.Lys76= Multiple submitters
- p.Pro803= Multiple submitters
- p.Pro853= Multiple submitters
- p.Pro837_Ile838insGlyPro No assertion criteria RBM12-related disorder
Likely benign 20
- p.826GP[5] Single submitter schizophrenia 19
- p.Ala655Val Single submitter
- p.Asn540Ser Single submitter
- p.Asn654Ser Single submitter
- p.Glu477= Single submitter
- p.Gly310= Single submitter
- p.Gly820Ser Single submitter
- p.Gly821= Single submitter
- p.Gly828= Single submitter
- p.Leu453= Single submitter
- p.Phe723= Single submitter
- p.Pro245= Single submitter
- p.Pro658= Single submitter
- p.Pro822= Single submitter
- p.Ser173= Single submitter
- p.Val155Ile Single submitter
- p.Val857= Single submitter
- p.Leu71= No assertion criteria RBM12-related disorder
- p.Pro835= No assertion criteria RBM12-related disorder
- p.Thr170Ala No assertion criteria RBM12-related disorder
Uncertain significance 122
- p.Ala102Thr Single submitter ⚠
- p.Ala136Val Single submitter ⚠
- p.Ala331Val Single submitter ⚠
- p.Ala482Gly Single submitter ⚠
- p.Ala614Thr Single submitter ⚠
- p.Ala685Pro Single submitter ⚠
- p.Ala815Gly Single submitter ⚠
- p.Ala900Val Single submitter ⚠
- p.Arg328Cys Single submitter ⚠
- p.Arg423Gly Single submitter ⚠
- p.Arg479Ile Single submitter ⚠
- p.Arg498Cys Single submitter ⚠
- p.Arg599Cys Single submitter ⚠
- p.Arg599His Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Arg59Leu Single submitter ⚠
- p.Arg603Cys Single submitter ⚠
- p.Arg603His Single submitter ⚠
- p.Arg606His Single submitter ⚠
- p.Arg89Cys Single submitter ⚠
- p.Arg907Gln Single submitter ⚠
- p.Asn281Asp Single submitter ⚠
- p.Asn281Lys Single submitter ⚠
- p.Asn300Ser Single submitter ⚠
- p.Asn318Asp Single submitter ⚠
- p.Asn342Lys Single submitter ⚠
- p.Asn497Ser Single submitter ⚠
- p.Asn654Asp Single submitter ⚠
- p.Asp448His Single submitter ⚠
- p.Asp538Ala Single submitter ⚠
- p.Asp749Glu Single submitter ⚠
- p.Asp916Gly Single submitter ⚠
- p.Asp96Glu Single submitter ⚠
- p.Gln291Glu Single submitter ⚠
- p.Gln562His Single submitter ⚠
- p.Gln583Ter Single submitter
- p.Gln634Arg Single submitter ⚠
- p.Glu703Lys Single submitter ⚠
- p.Glu892Gly Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly436Ala Single submitter ⚠
- p.Gly509Ala Single submitter ⚠
- p.Gly509Val Single submitter ⚠
- p.Gly584Ser Single submitter ⚠
- p.Gly586Ala Single submitter ⚠
- p.Gly635Arg Single submitter ⚠
- p.Gly669_Pro673del Single submitter schizophrenia 19
- p.Gly669Ser Single submitter ⚠
- p.Gly795Cys Single submitter ⚠
- p.Gly801Ser Single submitter ⚠
- p.Gly830Asp Single submitter ⚠
- p.Gly830Ser Single submitter ⚠
- p.Gly834Ser Single submitter ⚠
- p.Gly884Ser Single submitter ⚠
- p.His325Arg Single submitter ⚠
- p.His333Tyr Single submitter ⚠
- p.His605Asp Single submitter ⚠
- p.Ile208Leu Single submitter ⚠
- p.Ile35Val Single submitter ⚠
- p.Ile389Thr Single submitter ⚠
- p.Ile838Val Single submitter ⚠
- p.Ile858Thr Single submitter ⚠
- p.Ile97Met Single submitter ⚠
- p.Lys349Met Single submitter Neurodevelopmental delay ⚠
- p.Lys392Arg Single submitter ⚠
- p.Lys600Asn Single submitter ⚠
- p.Lys68Glu Single submitter ⚠
- p.Lys859Asn Single submitter ⚠
- p.Lys926Glu Single submitter ⚠
- p.Met113Arg Single submitter ⚠
- p.Met266Ile Single submitter ⚠
- p.Met516Thr Single submitter ⚠
- p.Met531Arg Single submitter ⚠
- p.Met558Val Single submitter ⚠
- p.Met754Leu Single submitter ⚠
- p.Met895Ile Single submitter ⚠
- p.Met895Thr Single submitter ⚠
- p.Phe166Leu Single submitter ⚠
- p.Phe563Leu Single submitter ⚠
- p.Pro11Thr Single submitter schizophrenia 19 ⚠
- p.Pro131Ser Single submitter ⚠
- p.Pro169Arg Single submitter ⚠
- p.Pro186Arg Single submitter ⚠
- p.Pro209Ala Single submitter ⚠
- p.Pro209Thr Single submitter ⚠
- p.Pro233Leu Single submitter ⚠
- p.Pro234His Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro245Leu Single submitter ⚠
- p.Pro249Leu Single submitter ⚠
- p.Pro254Ser Single submitter ⚠
- p.Pro274Thr Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro301Ser Single submitter ⚠
- p.Pro403Leu Single submitter ⚠
- p.Pro409Ala Single submitter ⚠
- p.Pro631His Single submitter ⚠
- p.Pro688Ser Single submitter ⚠
- p.Pro735Ser Single submitter ⚠
- p.Pro740Ser Single submitter ⚠
- p.Pro752Ala Single submitter ⚠
- p.Pro776Gln Single submitter ⚠
- p.Pro803Leu Single submitter ⚠
- p.Pro837Gln Single submitter ⚠
- p.Pro864Ser Single submitter ⚠
- p.Ser132Thr Single submitter ⚠
- p.Ser352Phe Single submitter
- p.Ser415Gly Single submitter ⚠
- p.Ser525Thr Single submitter ⚠
- p.Ser541Cys Single submitter ⚠
- p.Thr184Ala Single submitter ⚠
- p.Thr549Ala Single submitter ⚠
- p.Thr63Ala Single submitter ⚠
- p.Thr675Ile Single submitter ⚠
- p.Thr77Met Single submitter ⚠
- p.Tyr484Cys Single submitter ⚠
- p.Tyr526His Single submitter ⚠
- p.Val133Ala Single submitter ⚠
- p.Val133Leu Single submitter ⚠
- p.Val560Ile Single submitter ⚠
- p.Val578Ala Single submitter ⚠
- p.Pro188fs No assertion criteria RBM12-related disorder