RBL2 — 174 ClinVar variants

All ClinVar germline RBL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

6 Pathogenic · 6 Likely pathogenic · 3 Benign · 1 Benign/Likely benign · 14 Likely benign · 144 Uncertain significance

Full RBL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 102

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

Predictors split 38

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

All RBL2 variants

Pathogenic 6

c.1179+1_1179+5del Single submitter
c.3085-2_3086del Single submitter Brunet-Wagner neurodevelopmental syndrome
p.Arg192Ter Single submitter Brunet-Wagner neurodevelopmental syndrome
p.Leu533fs Single submitter Brunet-Wagner neurodevelopmental syndrome
c.573-1358_766+5del No assertion criteria Brunet-Wagner neurodevelopmental syndrome
p.Leu310fs No assertion criteria Brunet-Wagner neurodevelopmental syndrome

Likely pathogenic 6

p.Arg1047Ter Single submitter Brunet-Wagner neurodevelopmental syndrome
p.Arg151fs Single submitter Brunet-Wagner neurodevelopmental syndrome
p.Arg186Ter Single submitter Brunet-Wagner neurodevelopmental syndrome
p.His491fs Single submitter Brunet-Wagner neurodevelopmental syndrome
p.Tyr301fs Single submitter Brunet-Wagner neurodevelopmental syndrome
p.Val762fs Single submitter Brunet-Wagner neurodevelopmental syndrome

Benign 3

p.Arg829Ser Multiple submitters
p.Asn549Ile Multiple submitters
p.Leu141= Multiple submitters

Benign/Likely benign 1

p.Arg852= Multiple submitters

Likely benign 14

c.1180-7dup Single submitter
c.240+10C>T Single submitter
c.2775+18A>G Single submitter
c.3250-4A>G Single submitter
c.572+13G>T Single submitter
c.766+18A>G Single submitter
c.927+19A>G Single submitter
p.Asn1011= Single submitter
p.Ile409Val Single submitter
p.Ile459Val Single submitter
p.Leu682= Single submitter
p.Leu858= Single submitter
p.Thr742= Single submitter
p.Val762= Single submitter

Uncertain significance 144

p.Pro699Ser Multiple submitters Brunet-Wagner neurodevelopmental syndrome ⚠
p.Pro702Ser Multiple submitters ⚠
p.Ser929Arg Multiple submitters ⚠
p.Thr423Met Multiple submitters ⚠
p.Tyr111Cys Multiple submitters ⚠
p.Ala1021Thr Single submitter ⚠
p.Ala1124Val Single submitter ⚠
p.Ala240Ser Single submitter ⚠
p.Ala263Pro Single submitter ⚠
p.Ala358Val Single submitter ⚠
p.Ala458Val Single submitter ⚠
p.Ala495Val Single submitter ⚠
p.Ala574Thr Single submitter ⚠
p.Ala733Thr Single submitter ⚠
p.Ala90Ser Single submitter ⚠
p.Ala90Thr Single submitter ⚠
p.Ala983Gly Single submitter ⚠
p.Arg1046His Single submitter ⚠
p.Arg1070Gln Single submitter ⚠
p.Arg1086Lys Single submitter ⚠
p.Arg1128Cys Single submitter ⚠
p.Arg116Gly Single submitter
p.Arg148Cys Single submitter ⚠
p.Arg183Cys Single submitter ⚠
p.Arg188Gly Single submitter ⚠
p.Arg192Gln Single submitter
p.Arg351Trp Single submitter ⚠
p.Arg428His Single submitter ⚠
p.Arg650Cys Single submitter ⚠
p.Arg850His Single submitter ⚠
p.Arg852Gln Single submitter ⚠
p.Arg923Trp Single submitter ⚠
p.Arg938Ser Single submitter ⚠
p.Arg960Thr Single submitter ⚠
p.Asn1010Asp Single submitter ⚠
p.Asn1028Asp Single submitter ⚠
p.Asn686Thr Single submitter ⚠
p.Asn752Ser Single submitter ⚠
p.Asn754Ser Single submitter ⚠
p.Asp1030Asn Single submitter ⚠
p.Asp1030His Single submitter ⚠
p.Asp271Glu Single submitter ⚠
p.Asp454Asn Single submitter ⚠
p.Asp477Glu Single submitter ⚠
p.Asp632Gly Single submitter ⚠
p.Asp83Asn Single submitter ⚠
p.Asp83Gly Single submitter ⚠
p.Asp859Gly Single submitter ⚠
p.Cys274Arg Single submitter ⚠
p.Gln242Lys Single submitter ⚠
p.Gln388Arg Single submitter ⚠
p.Gln475His Single submitter ⚠
p.Gln509Pro Single submitter ⚠
p.Gln725Arg Single submitter
p.Gln821Pro Single submitter ⚠
p.Glu1001Asp Single submitter ⚠
p.Glu199Gly Single submitter ⚠
p.Gly109Ala Single submitter ⚠
p.Gly320Ala Single submitter ⚠
p.Gly363Arg Single submitter Brunet-Wagner neurodevelopmental syndrome ⚠
p.Gly363Glu Single submitter ⚠
p.Gly724Glu Single submitter ⚠
p.Gly767Ala Single submitter ⚠
p.His227Gln Single submitter ⚠
p.His283Tyr Single submitter ⚠
p.His296Gln Single submitter ⚠
p.Ile1073Val Single submitter ⚠
p.Ile1104Val Single submitter ⚠
p.Ile162Asn Single submitter ⚠
p.Ile173Val Single submitter ⚠
p.Ile209Val Single submitter ⚠
p.Ile302Val Single submitter ⚠
p.Ile352Val Single submitter ⚠
p.Ile399Val Single submitter ⚠
p.Ile507Val Single submitter ⚠
p.Ile522Val Single submitter ⚠
p.Ile572Val Single submitter ⚠
p.Ile589Met Single submitter ⚠
p.Ile589Thr Single submitter ⚠
p.Ile634Met Single submitter ⚠
p.Ile807Val Single submitter ⚠
p.Ile912Val Single submitter ⚠
p.Leu426Ser Single submitter
p.Leu514Arg Single submitter ⚠
p.Leu84His Single submitter ⚠
p.Leu84Phe Single submitter ⚠
p.Lys104Arg Single submitter ⚠
p.Lys1062Thr Single submitter ⚠
p.Lys832Asn Single submitter ⚠
p.Lys907Glu Single submitter ⚠
p.Met1029Ile Single submitter ⚠
p.Met383Arg Single submitter ⚠
p.Met432Val Single submitter ⚠
p.Met497Leu Single submitter ⚠
p.Met698Leu Single submitter ⚠
p.Met884Val Single submitter ⚠
p.Met997Thr Single submitter ⚠
p.Phe201Leu Single submitter ⚠
p.Phe254Cys Single submitter ⚠
p.Phe557Leu Single submitter ⚠
p.Pro273His Single submitter ⚠
p.Pro273Leu Single submitter ⚠
p.Pro300Arg Single submitter ⚠
p.Pro414Leu Single submitter ⚠
p.Pro418Ser Single submitter ⚠
p.Pro546Leu Single submitter ⚠
p.Pro617Leu Single submitter Brunet-Wagner neurodevelopmental syndrome ⚠
p.Pro663Leu Single submitter ⚠
p.Pro708Ser Single submitter ⚠
p.Pro721Ala Single submitter ⚠
p.Pro761Arg Single submitter ⚠
p.Pro779Leu Single submitter ⚠
p.Pro920Ser Single submitter ⚠
p.Ser1059Tyr Single submitter ⚠
p.Ser1090Asn Single submitter ⚠
p.Ser258Cys Single submitter ⚠
p.Ser394Phe Single submitter ⚠
p.Ser425Arg Single submitter ⚠
p.Ser790Asn Single submitter ⚠
p.Ser826Arg Single submitter ⚠
p.Ser929Asn Single submitter ⚠
p.Ser995Gly Single submitter ⚠
p.Thr101Ala Single submitter ⚠
p.Thr1065Pro Single submitter ⚠
p.Thr1097Asn Single submitter ⚠
p.Thr1099Asn Single submitter ⚠
p.Thr421Pro Single submitter ⚠
p.Thr833Ile Single submitter ⚠
p.Thr903Arg Single submitter ⚠
p.Thr974Pro Single submitter ⚠
p.Tyr1013Cys Single submitter ⚠
p.Tyr301Cys Single submitter ⚠
p.Tyr306His Single submitter ⚠
p.Tyr500His Single submitter ⚠
p.Tyr544Cys Single submitter ⚠
p.Tyr670Cys Single submitter ⚠
p.Val1040Leu Single submitter ⚠
p.Val345Ile Single submitter ⚠
p.Val559Met Single submitter ⚠
p.Val567Gly Single submitter ⚠
p.Val709Met Single submitter ⚠
p.Val747Ala Single submitter ⚠
p.Val93Met Single submitter ⚠
p.Val977Ala Single submitter ⚠