RRBP1 — 202 ClinVar variants

All ClinVar germline RRBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 163 flagged for review →

1 Conflicting · 11 Benign · 1 Benign/Likely benign · 24 Likely benign · 165 Uncertain significance

Full RRBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 163

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

RRBP1 p.Arg902Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 125

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

Predictors split 37

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

All RRBP1 variants

Conflicting classifications of pathogenicity 1

p.Arg902Gln Single submitter ⚠

Benign 11

c.3867+8C>T Multiple submitters
p.Arg1369Lys Multiple submitters
p.His1099Tyr Multiple submitters
p.Ser997= Multiple submitters
p.Thr1138= Multiple submitters
p.Thr1312= Multiple submitters
p.Thr711Ala Multiple submitters
p.Val118Ile Multiple submitters
p.Val1288Ile Multiple submitters
c.2928+10C>T Single submitter
p.Ala688= Single submitter

Benign/Likely benign 1

p.Leu1177= Multiple submitters

Likely benign 24

p.Pro639Ser Multiple submitters
p.Ala372= Single submitter
p.Ala415= Single submitter
p.Ala739= Single submitter
p.Ala871= Single submitter
p.Ala871Val Single submitter
p.Ala972= Single submitter
p.Asn347= Single submitter
p.Asn357= Single submitter
p.Asn663Ser Single submitter
p.Asp971= Single submitter
p.Glu1314Lys Single submitter
p.Glu1396Asp Single submitter
p.Gly1336Ser Single submitter
p.Gly404= Single submitter
p.Gly665= Single submitter
p.Lys380= Single submitter
p.Lys410= Single submitter
p.Pro639= Single submitter
p.Ser1108Leu Single submitter
p.Ser1191= Single submitter
p.Ser997Trp Single submitter ⚠
p.Thr652= Single submitter
p.Val612Met Single submitter

Uncertain significance 165

p.Ala1366Thr Multiple submitters ⚠
p.Ala1009Thr Single submitter ⚠
p.Ala102Ser Single submitter ⚠
p.Ala1030Thr Single submitter ⚠
p.Ala1104Val Single submitter ⚠
p.Ala1126Thr Single submitter ⚠
p.Ala1162Thr Single submitter ⚠
p.Ala1210Val Single submitter ⚠
p.Ala1214Thr Single submitter ⚠
p.Ala1220Ser Single submitter ⚠
p.Ala1318Gly Single submitter ⚠
p.Ala133Ser Single submitter ⚠
p.Ala152Val Single submitter ⚠
p.Ala173Thr Single submitter ⚠
p.Ala623Ser Single submitter ⚠
p.Ala696Val Single submitter ⚠
p.Ala716Thr Single submitter ⚠
p.Ala822Thr Single submitter ⚠
p.Ala844Val Single submitter ⚠
p.Ala871Thr Single submitter ⚠
p.Ala879Asp Single submitter ⚠
p.Ala899Thr Single submitter ⚠
p.Ala916Gly Single submitter ⚠
p.Ala927Glu Single submitter ⚠
p.Ala969Val Single submitter ⚠
p.Ala980Val Single submitter ⚠
p.Ala982Thr Single submitter ⚠
p.Arg1021Trp Single submitter ⚠
p.Arg1171Gln Single submitter ⚠
p.Arg1171Pro Single submitter ⚠
p.Arg1333His Single submitter ⚠
p.Arg1333Leu Single submitter ⚠
p.Arg46His Single submitter ⚠
p.Arg767Trp Single submitter ⚠
p.Arg781Gln Single submitter ⚠
p.Arg797Cys Single submitter ⚠
p.Arg852Gln Single submitter ⚠
p.Arg852Trp Single submitter ⚠
p.Arg883Cys Single submitter ⚠
p.Arg883Leu Single submitter ⚠
p.Arg902Trp Single submitter ⚠
p.Arg930Cys Single submitter ⚠
p.Arg970Gln Single submitter ⚠
p.Arg988Cys Single submitter ⚠
p.Asn1018Ser Single submitter ⚠
p.Asn1018Tyr Single submitter ⚠
p.Asn727Ile Single submitter ⚠
p.Asn91Ile Single submitter ⚠
p.Asn91Ser Single submitter ⚠
p.Asp1249Asn Single submitter ⚠
p.Asp1267Asn Single submitter ⚠
p.Asp2Tyr Single submitter ⚠
p.Asp5Asn Single submitter ⚠
p.Asp643Asn Single submitter ⚠
p.Asp693Glu Single submitter ⚠
p.Asp904Asn Single submitter ⚠
p.Cys1038Phe Single submitter ⚠
p.Cys1057Tyr Single submitter ⚠
p.Gln1305Lys Single submitter ⚠
p.Gln911Arg Single submitter ⚠
p.Gln914Glu Single submitter ⚠
p.Gln944His Single submitter ⚠
p.Glu1000Gly Single submitter ⚠
p.Glu1005Lys Single submitter ⚠
p.Glu1011Gln Single submitter ⚠
p.Glu1011Lys Single submitter ⚠
p.Glu1040Lys Single submitter ⚠
p.Glu1084Lys Single submitter ⚠
p.Glu1153Lys Single submitter ⚠
p.Glu1182Gln Single submitter ⚠
p.Glu1206Lys Single submitter ⚠
p.Glu1215Lys Single submitter ⚠
p.Glu1260Lys Single submitter ⚠
p.Glu1284Lys Single submitter ⚠
p.Glu1316Gly Single submitter ⚠
p.Glu1317Gly Single submitter ⚠
p.Glu1393Lys Single submitter ⚠
p.Glu664Lys Single submitter ⚠
p.Glu666Gln Single submitter
p.Glu788Asp Single submitter ⚠
p.Glu863Lys Single submitter ⚠
p.Glu906Lys Single submitter ⚠
p.Glu917Gly Single submitter ⚠
p.Glu926Lys Single submitter ⚠
p.Glu934Lys Single submitter ⚠
p.Glu945Lys Single submitter ⚠
p.Glu965Gly Single submitter ⚠
p.Gly665Ser Single submitter ⚠
p.Gly740Arg Single submitter ⚠
p.Gly790Asp Single submitter ⚠
p.Gly941Arg Single submitter ⚠
p.His873Arg Single submitter ⚠
p.Ile3Val Single submitter ⚠
p.Ile804Thr Single submitter ⚠
p.Leu1184Arg Single submitter ⚠
p.Leu1311Phe Single submitter ⚠
p.Leu1363Pro Single submitter ⚠
p.Leu670Phe Single submitter
p.Leu964Pro Single submitter ⚠
p.Leu989Phe Single submitter ⚠
p.Lys1001Glu Single submitter ⚠
p.Lys1026Glu Single submitter ⚠
p.Lys1049Glu Single submitter ⚠
p.Lys1291Glu Single submitter ⚠
p.Lys1350Glu Single submitter ⚠
p.Lys1355Arg Single submitter ⚠
p.Lys1375Arg Single submitter ⚠
p.Lys137Arg Single submitter ⚠
p.Lys139Arg Single submitter ⚠
p.Lys139Glu Single submitter ⚠
p.Lys142Glu Single submitter ⚠
p.Lys148Glu Single submitter ⚠
p.Lys620Asn Single submitter ⚠
p.Lys626Arg Single submitter ⚠
p.Lys82Arg Single submitter ⚠
p.Lys921Arg Single submitter ⚠
p.Lys990Arg Single submitter ⚠
p.Met18Val Single submitter
p.Phe26Cys Single submitter ⚠
p.Phe26Leu Single submitter ⚠
p.Pro1094Leu Single submitter ⚠
p.Pro1281Leu Single submitter ⚠
p.Pro1281Ser Single submitter ⚠
p.Pro791Ser Single submitter ⚠
p.Ser1052Leu Single submitter ⚠
p.Ser1075Cys Single submitter ⚠
p.Ser1133Gly Single submitter ⚠
p.Ser1191Pro Single submitter ⚠
p.Ser1213Gly Single submitter ⚠
p.Ser1259Gly Single submitter ⚠
p.Ser1259Thr Single submitter ⚠
p.Ser1321Leu Single submitter ⚠
p.Ser1361Asn Single submitter ⚠
p.Ser1402Arg Single submitter ⚠
p.Ser165Leu Single submitter ⚠
p.Ser29Leu Single submitter ⚠
p.Ser32Phe Single submitter ⚠
p.Ser655Phe Single submitter ⚠
p.Ser835Arg Single submitter ⚠
p.Ser888Gly Single submitter ⚠
p.Ser900Gly Single submitter ⚠
p.Ser900Ile Single submitter ⚠
p.Ser997Leu Single submitter ⚠
p.Thr1095Met Single submitter ⚠
p.Thr1198Met Single submitter ⚠
p.Thr1334Ile Single submitter ⚠
p.Thr1360Lys Single submitter ⚠
p.Thr1368Met Single submitter ⚠
p.Thr1387Met Single submitter ⚠
p.Thr172Ser Single submitter ⚠
p.Thr36Met Single submitter
p.Thr656Met Single submitter ⚠
p.Thr684Ile Single submitter ⚠
p.Thr756Met Single submitter ⚠
p.Val100Ala Single submitter ⚠
p.Val1010Ile Single submitter ⚠
p.Val112Ala Single submitter ⚠
p.Val1149Leu Single submitter ⚠
p.Val1149Met Single submitter ⚠
p.Val118Ala Single submitter ⚠
p.Val1265Ile Single submitter ⚠
p.Val57Ile Single submitter ⚠
p.Val657Ile Single submitter ⚠
p.Val758Met Single submitter ⚠
p.Val975Ile Single submitter ⚠