TRPM2 — 334 ClinVar variants

All ClinVar germline TRPM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 231 flagged for review →

1 Conflicting · 47 Benign · 6 Benign/Likely benign · 35 Likely benign · 245 Uncertain significance

Full TRPM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 231

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.

TRPM2 p.Arg469Cys Conflicting Single submitter

Predictors lean, ClinVar uncertain 192

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 192

Predictors split 38

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

All TRPM2 variants

Conflicting classifications of pathogenicity 1

p.Arg469Cys Single submitter ⚠

Benign 47

c.1932+141G>A Multiple submitters
c.1933-10T>C Multiple submitters
c.2322-35T>C Multiple submitters
c.2538+14C>T Multiple submitters
c.2962+96A>G Multiple submitters
c.3146+68T>C Multiple submitters
c.3147-20T>C Multiple submitters
c.3550-134C>T Multiple submitters
c.3795+97C>T Multiple submitters
c.3796-6C>T Multiple submitters
c.3975-89G>A Multiple submitters
c.*90T>C Multiple submitters
p.Asn1259= Multiple submitters
p.Cys1420= Multiple submitters
p.Glu1415= Multiple submitters
p.His594= Multiple submitters
p.His995Asp Multiple submitters
p.Ile1368Met Multiple submitters
p.Lys116= Multiple submitters
p.Lys1369Arg Multiple submitters
p.Thr1277Ala Multiple submitters
p.Thr133= Multiple submitters
p.Thr1347Met Multiple submitters
p.Val166Ile Multiple submitters
p.Val385Met Multiple submitters
p.Val873= Multiple submitters
c.1014+287C>A Single submitter
c.1932+140_1932+148del Single submitter
c.1932+142del Single submitter
c.1932+151_1932+190del Single submitter
c.1932+196G>A Single submitter
c.2209-165A>G Single submitter
c.2962+155A>G Single submitter
c.2962+304A>T Single submitter
c.3146+265A>T Single submitter
c.3461+194C>T Single submitter
c.3975-207G>A Single submitter
c.3975-274C>T Single submitter
c.4062-330T>C Single submitter
c.424-269= Single submitter
c.4386+124G>A Single submitter
p.Ala1218Glu Single submitter
p.Arg1228_Asp1236del Single submitter
p.Gln1189= Single submitter
p.Glu1359Lys Single submitter
p.Ile986= Single submitter
p.Val873Ile Single submitter

Benign/Likely benign 6

c.771+8C>A Multiple submitters
p.Asn1249Ser Multiple submitters
p.Ile641Met Multiple submitters
p.Thr1266Met Multiple submitters
p.Val1262Met Multiple submitters ⚠
p.Val602Ala Multiple submitters

Likely benign 35

c.3549+8C>T Multiple submitters
p.Arg412Lys Multiple submitters
p.Pro993Leu Multiple submitters
p.Val153Met Multiple submitters
p.Ala1013Val Single submitter
p.Ala1119Val Single submitter
p.Ala785Val Single submitter
p.Arg1243= Single submitter
p.Arg581Trp Single submitter
p.Arg610His Single submitter
p.Asn583= Single submitter
p.Asp1282= Single submitter
p.Asp852= Single submitter
p.Gln427Ter Single submitter
p.His1465= Single submitter
p.His281del Single submitter
p.His338= Single submitter
p.Met1286Thr Single submitter
p.Met1289Val Single submitter
p.Met1422Ile Single submitter
p.Phe837= Single submitter
p.Pro1018Leu Single submitter
p.Pro1412Leu Single submitter
p.Pro184Leu Single submitter ⚠
p.Ser672Leu Single submitter
p.Thr1231Met Single submitter
p.Thr344Ile Single submitter
p.Thr573= Single submitter
p.Val131= Single submitter
p.Val1445Ile Single submitter
p.Val1447Ile Single submitter
p.Val1455Gly Single submitter
p.Val460= Single submitter
p.Val541Ala Single submitter
p.Val797= Single submitter

Uncertain significance 245

p.Ala1080Thr Single submitter ⚠
p.Ala1218Thr Single submitter ⚠
p.Ala1283Val Single submitter ⚠
p.Ala1285Ser Single submitter ⚠
p.Ala1466Thr Single submitter ⚠
p.Ala1471Thr Single submitter ⚠
p.Ala1486Val Single submitter ⚠
p.Ala1497Val Single submitter ⚠
p.Ala203Ser Single submitter ⚠
p.Ala262Thr Single submitter ⚠
p.Ala320Asp Single submitter ⚠
p.Ala343Asp Single submitter ⚠
p.Ala367Thr Single submitter ⚠
p.Ala552Val Single submitter ⚠
p.Ala553Val Single submitter ⚠
p.Ala643Thr Single submitter ⚠
p.Ala677Val Single submitter ⚠
p.Ala686Gly Single submitter ⚠
p.Ala788Thr Single submitter ⚠
p.Ala861Gly Single submitter ⚠
p.Ala875Thr Single submitter ⚠
p.Arg1017Thr Single submitter ⚠
p.Arg1105Thr Single submitter ⚠
p.Arg1136Gln Single submitter ⚠
p.Arg1143Gln Single submitter ⚠
p.Arg1199Trp Single submitter ⚠
p.Arg1243Gln Single submitter ⚠
p.Arg1243Trp Single submitter
p.Arg1254Cys Single submitter
p.Arg1311Trp Single submitter ⚠
p.Arg1330Cys Single submitter ⚠
p.Arg1330His Single submitter ⚠
p.Arg1334His Single submitter ⚠
p.Arg1336Cys Single submitter ⚠
p.Arg1354Trp Single submitter ⚠
p.Arg1357Gln Single submitter ⚠
p.Arg1392Trp Single submitter ⚠
p.Arg1407Trp Single submitter ⚠
p.Arg1459Trp Single submitter ⚠
p.Arg1481Cys Single submitter ⚠
p.Arg1481Leu Single submitter ⚠
p.Arg185Gln Single submitter ⚠
p.Arg23Lys Single submitter ⚠
p.Arg249Ser Single submitter ⚠
p.Arg250Cys Single submitter
p.Arg250Gly Single submitter ⚠
p.Arg250Ser Single submitter ⚠
p.Arg411Gln Single submitter ⚠
p.Arg411Trp Single submitter ⚠
p.Arg413Gln Single submitter ⚠
p.Arg413Trp Single submitter ⚠
p.Arg442Gln Single submitter ⚠
p.Arg464His Single submitter ⚠
p.Arg546Ser Single submitter ⚠
p.Arg579Gln Single submitter ⚠
p.Arg579Trp Single submitter ⚠
p.Arg585Gln Single submitter ⚠
p.Arg585Pro Single submitter ⚠
p.Arg610Cys Single submitter ⚠
p.Arg623His Single submitter ⚠
p.Arg623Leu Single submitter ⚠
p.Arg634Cys Single submitter ⚠
p.Arg634His Single submitter ⚠
p.Arg635Gln Single submitter ⚠
p.Arg635Trp Single submitter ⚠
p.Arg707His Single submitter ⚠
p.Arg787His Single submitter ⚠
p.Arg845Gln Single submitter ⚠
p.Arg845Trp Single submitter ⚠
p.Asn1358Lys Single submitter ⚠
p.Asn751Ser Single submitter ⚠
p.Asp125Asn Single submitter ⚠
p.Asp1291Asn Single submitter ⚠
p.Asp1305Val Single submitter ⚠
p.Asp1431Gly Single submitter ⚠
p.Asp288Tyr Single submitter ⚠
p.Asp289Glu Single submitter ⚠
p.Asp453Asn Single submitter ⚠
p.Asp670Glu Single submitter ⚠
p.Asp852Gly Single submitter ⚠
p.Cys72Tyr Single submitter ⚠
p.Cys854Arg Single submitter ⚠
p.Gln1175Arg Single submitter ⚠
p.Gln1320Pro Single submitter ⚠
p.Gln1452Arg Single submitter ⚠
p.Gln147Ter Single submitter
p.Gln365Arg Single submitter ⚠
p.Gln435His Single submitter ⚠
p.Gln719Lys Single submitter ⚠
p.Glu1117Lys Single submitter ⚠
p.Glu1145Lys Single submitter ⚠
p.Glu1220Gln Single submitter ⚠
p.Glu1220Lys Single submitter ⚠
p.Glu1441Lys Single submitter ⚠
p.Glu14Lys Single submitter ⚠
p.Glu311Asp Single submitter ⚠
p.Glu401Lys Single submitter ⚠
p.Glu524Gln Single submitter ⚠
p.Glu545Gln Single submitter ⚠
p.Glu710Lys Single submitter ⚠
p.Glu77Gly Single submitter ⚠
p.Glu842Lys Single submitter ⚠
p.Gly1076Cys Single submitter ⚠
p.Gly110Asp Single submitter ⚠
p.Gly1315Arg Single submitter
p.Gly1322Arg Single submitter ⚠
p.Gly1322Val Single submitter ⚠
p.Gly1421Asp Single submitter ⚠
p.Gly1421Ser Single submitter ⚠
p.Gly1427Arg Single submitter ⚠
p.Gly175Arg Single submitter ⚠
p.Gly208Ala Single submitter
p.Gly234Ala Single submitter ⚠
p.Gly234Val Single submitter ⚠
p.Gly258Val Single submitter ⚠
p.Gly296Arg Single submitter ⚠
p.Gly333Ser Single submitter
p.Gly347Ser Single submitter ⚠
p.Gly425Cys Single submitter ⚠
p.Gly752Arg Single submitter ⚠
p.Gly855Arg Single submitter ⚠
p.Gly874Ser Single submitter ⚠
p.Gly882Glu Single submitter ⚠
p.His1058Gln Single submitter ⚠
p.His1058Pro Single submitter ⚠
p.His118Tyr Single submitter
p.His1314Arg Single submitter ⚠
p.His211Arg Single submitter ⚠
p.His248Asn Single submitter ⚠
p.His281Asp Single submitter ⚠
p.His446Asn Single submitter ⚠
p.His800Tyr Single submitter ⚠
p.His995Leu Single submitter ⚠
p.Ile1071Met Single submitter
p.Ile1085Asn Single submitter ⚠
p.Ile1085Thr Single submitter ⚠
p.Ile1094Leu Single submitter ⚠
p.Ile340Phe Single submitter
p.Ile876Met Single submitter ⚠
p.Ile876Val Single submitter ⚠
p.Ile982Asn Single submitter ⚠
p.Ile986Leu Single submitter ⚠
p.Ile986Val Single submitter ⚠
p.Leu1246Ile Single submitter ⚠
p.Leu1460Val Single submitter ⚠
p.Leu520Pro Single submitter ⚠
p.Leu526Val Single submitter ⚠
p.Leu588Phe Single submitter ⚠
p.Leu626Arg Single submitter ⚠
p.Leu758Arg Single submitter ⚠
p.Leu836Pro Single submitter ⚠
p.Leu871Arg Single submitter ⚠
p.Lys1107Glu Single submitter ⚠
p.Lys1147Gln Single submitter ⚠
p.Lys1366Glu Single submitter ⚠
p.Lys1494Glu Single submitter ⚠
p.Lys86Arg Single submitter ⚠
p.Met1047Thr Single submitter ⚠
p.Met1397Val Single submitter ⚠
p.Met1422Val Single submitter ⚠
p.Met182Val Single submitter ⚠
p.Met29Thr Single submitter ⚠
p.Met760Leu Single submitter ⚠
p.Met760Lys Single submitter ⚠
p.Met857Leu Single submitter ⚠
p.Phe1035Leu Single submitter ⚠
p.Phe1499Val Single submitter ⚠
p.Phe308Ser Single submitter ⚠
p.Phe738Val Single submitter ⚠
p.Phe807Leu Single submitter ⚠
p.Pro1083Arg Single submitter ⚠
p.Pro1102Ser Single submitter ⚠
p.Pro1221Arg Single submitter ⚠
p.Pro1221Leu Single submitter ⚠
p.Pro1295Leu Single submitter ⚠
p.Pro349Arg Single submitter ⚠
p.Pro528Ala Single submitter ⚠
p.Pro528Ser Single submitter ⚠
p.Pro764Leu Single submitter
p.Pro825Ser Single submitter ⚠
p.Pro983Gln Single submitter ⚠
p.Pro998Ser Single submitter ⚠
p.Ser1340Arg Single submitter ⚠
p.Ser1340Cys Single submitter ⚠
p.Ser1413Cys Single submitter ⚠
p.Ser1462Pro Single submitter ⚠
p.Ser1469Leu Single submitter ⚠
p.Ser152Asn Single submitter ⚠
p.Ser172Leu Single submitter ⚠
p.Ser279Gly Single submitter ⚠
p.Ser356Leu Single submitter ⚠
p.Ser36Gly Single submitter ⚠
p.Ser603Arg Single submitter ⚠
p.Ser61Leu Single submitter ⚠
p.Thr1014Met Single submitter ⚠
p.Thr1253Met Single submitter ⚠
p.Thr133Met Single submitter ⚠
p.Thr149Met Single submitter ⚠
p.Thr257Ala Single submitter ⚠
p.Thr336Met Single submitter
p.Thr348Ser Single submitter ⚠
p.Thr395Met Single submitter ⚠
p.Thr403Ala Single submitter ⚠
p.Thr716Asn Single submitter
p.Thr757Ser Single submitter ⚠
p.Thr783Asn Single submitter ⚠
p.Thr783Ile Single submitter ⚠
p.Thr884Asn Single submitter ⚠
p.Thr94Lys Single submitter ⚠
p.Trp1193Arg Single submitter
p.Trp1411Arg Single submitter ⚠
p.Trp244Gly Single submitter ⚠
p.Trp452Gly Single submitter
p.Trp462Arg Single submitter ⚠
p.Trp477Gly Single submitter ⚠
p.Trp868Cys Single submitter ⚠
p.Tyr1004Cys Single submitter
p.Tyr1317His Single submitter ⚠
p.Tyr1485His Single submitter ⚠
p.Tyr1503Cys Single submitter ⚠
p.Tyr1503His Single submitter ⚠
p.Tyr815His Single submitter ⚠
p.Val1240Met Single submitter ⚠
p.Val1319Ala Single submitter ⚠
p.Val1319Met Single submitter ⚠
p.Val131Ile Single submitter ⚠
p.Val1377Leu Single submitter ⚠
p.Val1377Met Single submitter ⚠
p.Val139Leu Single submitter ⚠
p.Val1424Met Single submitter ⚠
p.Val1443Ala Single submitter ⚠
p.Val145Ile Single submitter ⚠
p.Val218Ala Single submitter
p.Val287Met Single submitter ⚠
p.Val297Leu Single submitter ⚠
p.Val328Met Single submitter ⚠
p.Val362Ile Single submitter ⚠
p.Val539Glu Single submitter ⚠
p.Val561Met Single submitter ⚠
p.Val592Ile Single submitter ⚠
p.Val592Leu Single submitter ⚠
p.Val615Met Single submitter ⚠
p.Val708Met Single submitter ⚠
p.Val749Met Single submitter ⚠
p.Val796Met Single submitter ⚠