RPAP1 — 213 ClinVar variants

All ClinVar germline RPAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 190 flagged for review →

1 Conflicting · 1 Benign · 13 Likely benign · 198 Uncertain significance

Full RPAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 190

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.

RPAP1 p.Arg1108Gly Conflicting Single submitter

Predictors lean, ClinVar uncertain 167

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 167

Predictors split 22

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

All RPAP1 variants

Conflicting classifications of pathogenicity 1

p.Arg1108Gly Single submitter ⚠

Benign 1

p.Ser3Leu Multiple submitters

Likely benign 13

p.Ala960Thr Single submitter
p.Arg1112Gln Single submitter
p.Arg1297Cys Single submitter
p.Arg1299His Single submitter
p.Arg249Gln Single submitter
p.Arg707Gln Single submitter
p.Gly688Ser Single submitter
p.His999= Single submitter
p.Ser1064Leu Single submitter
p.Ser1121Pro Single submitter
p.Thr1093Met Single submitter
p.Thr187Ala Single submitter
p.Thr272Ala Single submitter

Uncertain significance 198

p.Ala1022Val Single submitter ⚠
p.Ala1046Thr Single submitter ⚠
p.Ala1048Thr Single submitter ⚠
p.Ala1113Thr Single submitter ⚠
p.Ala1184Thr Single submitter ⚠
p.Ala1295Val Single submitter ⚠
p.Ala1310Val Single submitter ⚠
p.Ala158Ser Single submitter ⚠
p.Ala237Val Single submitter ⚠
p.Ala23Pro Single submitter
p.Ala23Thr Single submitter ⚠
p.Ala260Val Single submitter ⚠
p.Ala27Val Single submitter ⚠
p.Ala388Val Single submitter ⚠
p.Ala560Val Single submitter ⚠
p.Ala804Thr Single submitter ⚠
p.Ala808Thr Single submitter ⚠
p.Ala885Gly Single submitter ⚠
p.Ala937Val Single submitter ⚠
p.Ala967Val Single submitter ⚠
p.Arg1008Gln Single submitter ⚠
p.Arg1108Leu Single submitter ⚠
p.Arg1112Pro Single submitter
p.Arg1131Gln Single submitter ⚠
p.Arg1143Cys Single submitter ⚠
p.Arg1143His Single submitter ⚠
p.Arg1155Cys Single submitter ⚠
p.Arg1238His Single submitter ⚠
p.Arg1331His Single submitter ⚠
p.Arg1347Gln Single submitter ⚠
p.Arg135His Single submitter ⚠
p.Arg1374Cys Single submitter ⚠
p.Arg137Trp Single submitter ⚠
p.Arg149Lys Single submitter ⚠
p.Arg347Gln Single submitter ⚠
p.Arg400Cys Single submitter ⚠
p.Arg407Thr Single submitter ⚠
p.Arg429Trp Single submitter ⚠
p.Arg448His Single submitter ⚠
p.Arg464His Single submitter ⚠
p.Arg467Trp Single submitter ⚠
p.Arg47Trp Single submitter ⚠
p.Arg525Trp Single submitter ⚠
p.Arg547Trp Single submitter ⚠
p.Arg54Trp Single submitter ⚠
p.Arg574Trp Single submitter ⚠
p.Arg588Trp Single submitter ⚠
p.Arg626His Single submitter ⚠
p.Arg646Gln Single submitter ⚠
p.Arg648His Single submitter ⚠
p.Arg651Cys Single submitter ⚠
p.Arg651His Single submitter ⚠
p.Arg700Trp Single submitter ⚠
p.Arg707Trp Single submitter ⚠
p.Arg826Cys Single submitter ⚠
p.Arg881Cys Single submitter ⚠
p.Arg949His Single submitter ⚠
p.Arg989Trp Single submitter ⚠
p.Asn192Ser Single submitter ⚠
p.Asn288Ile Single submitter ⚠
p.Asn61Ser Single submitter ⚠
p.Asp1051Glu Single submitter ⚠
p.Asp1100Asn Single submitter ⚠
p.Asp1115Gly Single submitter ⚠
p.Asp113Gly Single submitter ⚠
p.Asp307Val Single submitter ⚠
p.Asp428Gly Single submitter ⚠
p.Asp46Asn Single submitter ⚠
p.Asp480Asn Single submitter
p.Asp60Gly Single submitter ⚠
p.Asp88Asn Single submitter ⚠
p.Cys1161Gly Single submitter ⚠
p.Cys185Arg Single submitter ⚠
p.Cys586Tyr Single submitter ⚠
p.Cys851Arg Single submitter ⚠
p.Cys855Tyr Single submitter
p.Gln1176Glu Single submitter ⚠
p.Gln205His Single submitter ⚠
p.Gln20His Single submitter ⚠
p.Gln352Arg Single submitter ⚠
p.Gln768Pro Single submitter ⚠
p.Glu1168Lys Single submitter ⚠
p.Glu241Gln Single submitter ⚠
p.Glu274Gln Single submitter ⚠
p.Glu274Lys Single submitter ⚠
p.Glu278Asp Single submitter ⚠
p.Glu302Asp Single submitter ⚠
p.Glu523Ala Single submitter ⚠
p.Glu523Asp Single submitter ⚠
p.Glu673Lys Single submitter ⚠
p.Glu749Lys Single submitter ⚠
p.Gly1040Glu Single submitter ⚠
p.Gly1250Ala Single submitter ⚠
p.Gly194Val Single submitter ⚠
p.Gly206Glu Single submitter ⚠
p.Gly40Asp Single submitter ⚠
p.Gly41Cys Single submitter ⚠
p.Gly558Ala Single submitter ⚠
p.Gly766Ala Single submitter ⚠
p.Gly923Glu Single submitter ⚠
p.His1062Arg Single submitter ⚠
p.His1352Gln Single submitter ⚠
p.His487Arg Single submitter ⚠
p.His850Arg Single submitter ⚠
p.His908Pro Single submitter ⚠
p.His975Asp Single submitter ⚠
p.His999Gln Single submitter ⚠
p.Ile635Met Single submitter ⚠
p.Ile635Thr Single submitter ⚠
p.Ile722Thr Single submitter ⚠
p.Leu1060Val Single submitter ⚠
p.Leu106Phe Single submitter ⚠
p.Leu1270Pro Single submitter ⚠
p.Leu1386Val Single submitter ⚠
p.Leu197Pro Single submitter ⚠
p.Leu215Phe Single submitter ⚠
p.Leu235Pro Single submitter ⚠
p.Leu438Phe Single submitter
p.Leu444Val Single submitter ⚠
p.Leu649Pro Single submitter ⚠
p.Leu870His Single submitter ⚠
p.Leu882Phe Single submitter ⚠
p.Leu948Val Single submitter ⚠
p.Leu959Val Single submitter ⚠
p.Leu978Phe Single submitter ⚠
p.Lys148Arg Single submitter ⚠
p.Lys34Met Single submitter ⚠
p.Lys501Glu Single submitter ⚠
p.Met238Val Single submitter ⚠
p.Met58Ile Single submitter ⚠
p.Met824Leu Single submitter ⚠
p.Met982Leu Single submitter ⚠
p.Phe261Val Single submitter
p.Phe928Leu Single submitter ⚠
p.Pro1095Ser Single submitter ⚠
p.Pro1152Arg Single submitter ⚠
p.Pro1189Ser Single submitter ⚠
p.Pro1208Ser Single submitter ⚠
p.Pro1277Leu Single submitter ⚠
p.Pro1361Leu Single submitter ⚠
p.Pro1371Thr Single submitter
p.Pro188Thr Single submitter ⚠
p.Pro282Ser Single submitter ⚠
p.Pro285Leu Single submitter ⚠
p.Pro28Ser Single submitter ⚠
p.Pro368Thr Single submitter ⚠
p.Pro587Ser Single submitter ⚠
p.Pro71Ala Single submitter ⚠
p.Pro756Ser Single submitter ⚠
p.Pro857Leu Single submitter ⚠
p.Pro890Ser Single submitter ⚠
p.Pro91Ala Single submitter ⚠
p.Pro922Leu Single submitter ⚠
p.Ser1030Leu Single submitter ⚠
p.Ser1173Phe Single submitter ⚠
p.Ser1206Cys Single submitter ⚠
p.Ser1241Thr Single submitter ⚠
p.Ser19Asn Single submitter ⚠
p.Ser200Asn Single submitter ⚠
p.Ser297Thr Single submitter ⚠
p.Ser301Ile Single submitter ⚠
p.Ser481Asn Single submitter ⚠
p.Ser524Gly Single submitter ⚠
p.Ser72Pro Single submitter ⚠
p.Ser738Arg Single submitter ⚠
p.Thr1099Pro Single submitter ⚠
p.Thr1123Ile Single submitter ⚠
p.Thr114Ile Single submitter ⚠
p.Thr1205Met Single submitter ⚠
p.Thr1205Ser Single submitter ⚠
p.Thr1384Ala Single submitter ⚠
p.Thr268Arg Single submitter ⚠
p.Thr268Met Single submitter ⚠
p.Thr268Ser Single submitter ⚠
p.Thr275Ile Single submitter ⚠
p.Thr711Ile Single submitter ⚠
p.Thr778Ile Single submitter ⚠
p.Tyr1211Phe Single submitter ⚠
p.Tyr1211Ser Single submitter ⚠
p.Tyr1353Cys Single submitter ⚠
p.Tyr556Ser Single submitter ⚠
p.Tyr979Cys Single submitter ⚠
p.Val1150Leu Single submitter ⚠
p.Val1179Gly Single submitter
p.Val119Met Single submitter ⚠
p.Val123Leu Single submitter ⚠
p.Val127Ala Single submitter ⚠
p.Val169Ala Single submitter ⚠
p.Val172Phe Single submitter ⚠
p.Val332Ile Single submitter ⚠
p.Val370Met Single submitter ⚠
p.Val403Ile Single submitter ⚠
p.Val56Gly Single submitter
p.Val771Ala Single submitter ⚠
p.Val791Met Single submitter ⚠
p.Val796Ile Single submitter ⚠
p.Val871Met Single submitter ⚠
p.Val932Met Single submitter ⚠