USP24 — 229 ClinVar variants

All ClinVar germline USP24 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 206 flagged for review →

1 Likely pathogenic · 5 Benign · 5 Likely benign · 218 Uncertain significance

Full USP24 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 206

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 157

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 157

Predictors split 49

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

All USP24 variants

Likely pathogenic 1

c.7448-7C>T No assertion criteria Short stature

Benign 5

p.Ala1561= Multiple submitters
p.His2523= Multiple submitters
p.Leu726= Multiple submitters
p.Lys653= Multiple submitters
p.Thr158Ala Multiple submitters

Likely benign 5

p.Ala1631Val Single submitter
p.Asp2595Glu Single submitter
p.Ile2363Val Single submitter
p.Val1882= Single submitter
p.Val368Ile Single submitter

Uncertain significance 218

c.6554+1G>A Single submitter
p.Ala1077Val Single submitter ⚠
p.Ala1267Thr Single submitter ⚠
p.Ala1332Val Single submitter
p.Ala1364Val Single submitter ⚠
p.Ala1387Ser Single submitter ⚠
p.Ala1390Val Single submitter
p.Ala1448Thr Single submitter ⚠
p.Ala1582Ser Single submitter ⚠
p.Ala1618Ser Single submitter ⚠
p.Ala1856Val Single submitter ⚠
p.Ala2070Thr Single submitter ⚠
p.Ala216Thr Single submitter ⚠
p.Ala2249Thr Single submitter ⚠
p.Ala2373Pro Single submitter ⚠
p.Ala2404Gly Single submitter ⚠
p.Ala256Ser Single submitter ⚠
p.Ala256Val Single submitter ⚠
p.Ala30Val Single submitter ⚠
p.Ala583Thr Single submitter ⚠
p.Ala585Ser Single submitter ⚠
p.Ala585Thr Single submitter ⚠
p.Arg1336Ile Single submitter ⚠
p.Arg134Cys Single submitter ⚠
p.Arg134His Single submitter ⚠
p.Arg1395Pro Single submitter ⚠
p.Arg1451His Single submitter ⚠
p.Arg1571His Single submitter ⚠
p.Arg1934Gln Single submitter ⚠
p.Arg2014Lys Single submitter ⚠
p.Arg2028His Single submitter ⚠
p.Arg2060Gln Single submitter
p.Arg2060Trp Single submitter ⚠
p.Arg2115Gln Single submitter ⚠
p.Arg2131Lys Single submitter ⚠
p.Arg2298Lys Single submitter ⚠
p.Arg2310Trp Single submitter ⚠
p.Arg2321Gln Single submitter ⚠
p.Arg2327His Single submitter ⚠
p.Arg2328Gln Single submitter ⚠
p.Arg2367Gln Single submitter ⚠
p.Arg2406Gln Single submitter ⚠
p.Arg2495His Single submitter ⚠
p.Arg346Gln Single submitter ⚠
p.Arg374His Single submitter ⚠
p.Arg387Gln Single submitter ⚠
p.Arg526Gly Single submitter ⚠
p.Arg543His Single submitter
p.Arg637His Single submitter ⚠
p.Arg805Gln Single submitter ⚠
p.Arg933Cys Single submitter ⚠
p.Arg946Gln Single submitter ⚠
p.Asn1359His Single submitter ⚠
p.Asn1547Ser Single submitter ⚠
p.Asn1632Ser Single submitter ⚠
p.Asn2289Lys Single submitter ⚠
p.Asn2289Ser Single submitter ⚠
p.Asn2342Ser Single submitter ⚠
p.Asn2439Asp Single submitter ⚠
p.Asn326Ser Single submitter ⚠
p.Asn43Ser Single submitter ⚠
p.Asn625Ser Single submitter ⚠
p.Asn787Ser Single submitter ⚠
p.Asp1263Gly Single submitter ⚠
p.Asp138Asn Single submitter ⚠
p.Asp1646Asn Single submitter ⚠
p.Asp169Asn Single submitter ⚠
p.Asp1721His Single submitter ⚠
p.Asp2271Glu Single submitter ⚠
p.Asp239Val Single submitter ⚠
p.Asp305Val Single submitter ⚠
p.Asp473Gly Single submitter ⚠
p.Cys153Arg Single submitter ⚠
p.Cys2229Tyr Single submitter ⚠
p.Gln1233His Single submitter ⚠
p.Gln1397His Single submitter ⚠
p.Gln1796His Single submitter ⚠
p.Gln2325Leu Single submitter ⚠
p.Gln2467His Single submitter ⚠
p.Gln742His Single submitter ⚠
p.Glu1203Lys Single submitter ⚠
p.Glu1528Lys Single submitter ⚠
p.Glu167Lys Single submitter ⚠
p.Glu1860Asp Single submitter ⚠
p.Glu1952Gly Single submitter ⚠
p.Glu217Lys Single submitter ⚠
p.Glu290Lys Single submitter ⚠
p.Glu557Asp Single submitter ⚠
p.Glu976Gly Single submitter ⚠
p.Gly1210Ser Single submitter ⚠
p.Gly1588Asp Single submitter ⚠
p.Gly1740Glu Single submitter ⚠
p.Gly1793Glu Single submitter
p.Gly1933Glu Single submitter ⚠
p.Gly1982Glu Single submitter ⚠
p.Gly2394Ala Single submitter ⚠
p.His1389Tyr Single submitter ⚠
p.His2350Arg Single submitter ⚠
p.His2382Arg Single submitter ⚠
p.His2428Arg Single submitter ⚠
p.His2490Tyr Single submitter ⚠
p.His2522Tyr Single submitter ⚠
p.His511Arg Single submitter ⚠
p.His511Tyr Single submitter ⚠
p.His958Gln Single submitter ⚠
p.His958Tyr Single submitter ⚠
p.Ile1108Met Single submitter ⚠
p.Ile1108Thr Single submitter ⚠
p.Ile1306Val Single submitter ⚠
p.Ile1441Ser Single submitter ⚠
p.Ile1564Thr Single submitter ⚠
p.Ile1874Val Single submitter ⚠
p.Ile2094Val Single submitter ⚠
p.Ile2195Thr Single submitter ⚠
p.Ile224Val Single submitter ⚠
p.Ile2416Ser Single submitter ⚠
p.Ile2462Thr Single submitter ⚠
p.Ile427Val Single submitter ⚠
p.Ile658Val Single submitter ⚠
p.Ile821Val Single submitter ⚠
p.Ile983Thr Single submitter ⚠
p.Leu1089His Single submitter ⚠
p.Leu1247His Single submitter ⚠
p.Leu1461Val Single submitter
p.Leu2050Phe Single submitter ⚠
p.Leu2166Val Single submitter ⚠
p.Leu2378Val Single submitter ⚠
p.Leu2441Gln Single submitter ⚠
p.Leu370Phe Single submitter ⚠
p.Leu413Arg Single submitter ⚠
p.Leu611Ser Single submitter ⚠
p.Leu791Val Single submitter ⚠
p.Leu994Phe Single submitter ⚠
p.Lys1593Asn Single submitter ⚠
p.Lys1593Ile Single submitter
p.Lys1593Thr Single submitter ⚠
p.Lys1946Ile Single submitter ⚠
p.Lys2163Arg Single submitter ⚠
p.Lys758Glu Single submitter ⚠
p.Lys773Asn Single submitter ⚠
p.Met1761Ile Single submitter ⚠
p.Met180Ile Single submitter ⚠
p.Met2112Ile Single submitter ⚠
p.Met2161Thr Single submitter ⚠
p.Met2433Val Single submitter ⚠
p.Met2485Ile Single submitter ⚠
p.Phe1428Ser Single submitter ⚠
p.Phe2286Ser Single submitter ⚠
p.Phe2431Tyr Single submitter ⚠
p.Phe259Leu Single submitter ⚠
p.Pro1354Ser Single submitter ⚠
p.Pro1714Arg Single submitter ⚠
p.Pro2082Ser Single submitter ⚠
p.Pro2087Leu Single submitter ⚠
p.Pro269Ser Single submitter ⚠
p.Pro377Leu Single submitter ⚠
p.Ser1050Thr Single submitter ⚠
p.Ser1060Gly Single submitter ⚠
p.Ser1132Ala Single submitter ⚠
p.Ser1135Asn Single submitter ⚠
p.Ser1164Cys Single submitter ⚠
p.Ser1237Thr Single submitter ⚠
p.Ser1293Leu Single submitter ⚠
p.Ser1294Cys Single submitter ⚠
p.Ser1301Pro Single submitter ⚠
p.Ser133Gly Single submitter ⚠
p.Ser1371Asn Single submitter ⚠
p.Ser1381Thr Single submitter ⚠
p.Ser1506Pro Single submitter ⚠
p.Ser1661Cys Single submitter ⚠
p.Ser1730Asn Single submitter ⚠
p.Ser1834Cys Single submitter ⚠
p.Ser1879Gly Single submitter ⚠
p.Ser1925Phe Single submitter ⚠
p.Ser1925Tyr Single submitter ⚠
p.Ser1943Pro Single submitter ⚠
p.Ser2314Thr Single submitter ⚠
p.Ser2375Leu Single submitter ⚠
p.Ser2604Thr Single submitter ⚠
p.Ser271Leu Single submitter ⚠
p.Ser347Asn Single submitter ⚠
p.Ser519Ile Single submitter
p.Ser533Arg Single submitter ⚠
p.Ser567Asn Single submitter ⚠
p.Ser765Asn Single submitter ⚠
p.Ser996Pro Single submitter ⚠
p.Thr1049Ala Single submitter ⚠
p.Thr1049Ile Single submitter ⚠
p.Thr1171Pro Single submitter ⚠
p.Thr1188Ala Single submitter ⚠
p.Thr125Lys Single submitter ⚠
p.Thr1328Ser Single submitter ⚠
p.Thr1485Met Single submitter ⚠
p.Thr1524Ser Single submitter ⚠
p.Thr1536Met Single submitter ⚠
p.Thr1779Ala Single submitter
p.Thr2003Ala Single submitter ⚠
p.Thr2245Asn Single submitter ⚠
p.Thr272Asn Single submitter ⚠
p.Thr411Asn Single submitter ⚠
p.Thr495Ala Single submitter ⚠
p.Thr563Ala Single submitter ⚠
p.Tyr129Cys Single submitter ⚠
p.Tyr1819Ter Single submitter
p.Tyr205Cys Single submitter
p.Tyr814Cys Single submitter ⚠
p.Tyr966Cys Single submitter ⚠
p.Val1075Met Single submitter ⚠
p.Val1300Met Single submitter ⚠
p.Val1948Ile Single submitter ⚠
p.Val1961Ile Single submitter ⚠
p.Val2058Ile Single submitter ⚠
p.Val2274Ile Single submitter ⚠
p.Val258Ala Single submitter ⚠
p.Val502Met Single submitter ⚠
p.Val527Leu Single submitter ⚠
p.Met831Val No assertion criteria Short stature ⚠
p.Tyr916Phe No assertion criteria Short stature ⚠