USP47 — 130 ClinVar variants
All ClinVar germline USP47 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →
1 Benign · 3 Likely benign · 126 Uncertain significance
Full USP47 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 116
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 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- USP47 p.Ala1124Val Uncertain significance Single submitter
- USP47 p.Ala709Ser Uncertain significance Single submitter
- USP47 p.Ala95Thr Uncertain significance Single submitter
- USP47 p.Arg1133Gln Uncertain significance Single submitter
- USP47 p.Arg1133Trp Uncertain significance Single submitter
- USP47 p.Arg1211Gln Uncertain significance Single submitter
- USP47 p.Arg1236Gln Uncertain significance Single submitter
- USP47 p.Arg1329His Uncertain significance Single submitter
- USP47 p.Arg132Gly Uncertain significance Single submitter
- USP47 p.Arg238Gly Uncertain significance Single submitter
- USP47 p.Arg354Gln Uncertain significance Single submitter
- USP47 p.Asn1113Ser Uncertain significance Single submitter
- USP47 p.Asn449Ile Uncertain significance Single submitter
- USP47 p.Asn749Ser Uncertain significance Single submitter
- USP47 p.Asn96His Uncertain significance Single submitter
- USP47 p.Asn979Lys Uncertain significance Single submitter
- USP47 p.Asp1022Asn Uncertain significance Single submitter
- USP47 p.Asp1299His Uncertain significance Single submitter
- USP47 p.Asp396His Uncertain significance Single submitter
- USP47 p.Asp828Asn Uncertain significance Single submitter
- USP47 p.Asp834Gly Uncertain significance Single submitter
- USP47 p.Asp835Gly Uncertain significance Single submitter
- USP47 p.Asp925Asn Uncertain significance Single submitter
- USP47 p.Asp94Ala Uncertain significance Single submitter
- USP47 p.Gln1134Lys Uncertain significance Single submitter
- USP47 p.Gln811Arg Uncertain significance Single submitter
- USP47 p.Gln868Pro Uncertain significance Single submitter
- USP47 p.Gln869Glu Uncertain significance Single submitter
- USP47 p.Glu1137Lys Uncertain significance Single submitter
- USP47 p.Glu203Lys Uncertain significance Single submitter
- USP47 p.Glu778Lys Uncertain significance Single submitter
- USP47 p.Glu886Gly Uncertain significance Single submitter
- USP47 p.Glu916Gly Uncertain significance Single submitter
- USP47 p.Glu991Asp Uncertain significance Single submitter
- USP47 p.Gly1003Ser Uncertain significance Single submitter
- USP47 p.Gly1024Asp Uncertain significance Single submitter
- USP47 p.Gly1148Asp Uncertain significance Single submitter
- USP47 p.Gly654Arg Uncertain significance Single submitter
- USP47 p.Gly844Arg Uncertain significance Single submitter
- USP47 p.Gly981Val Uncertain significance Single submitter
- USP47 p.His790Arg Uncertain significance Single submitter
- USP47 p.His798Tyr Uncertain significance Single submitter
- USP47 p.Ile1092Val Uncertain significance Single submitter
- USP47 p.Ile1295Val Uncertain significance Single submitter
- USP47 p.Ile231Val Uncertain significance Single submitter
- USP47 p.Ile733Met Uncertain significance Single submitter
- USP47 p.Ile802Val Uncertain significance Single submitter
- USP47 p.Ile970Val Uncertain significance Single submitter
- USP47 p.Leu1193Ile Uncertain significance Single submitter
- USP47 p.Leu1304Ile Uncertain significance Single submitter
- USP47 p.Leu675Met Uncertain significance Single submitter
- USP47 p.Lys1218Asn Uncertain significance Single submitter
- USP47 p.Lys668Arg Uncertain significance Single submitter
- USP47 p.Lys840Glu Uncertain significance Single submitter
- USP47 p.Met380Thr Uncertain significance Single submitter
- USP47 p.Met397Leu Uncertain significance Single submitter
- USP47 p.Met620Arg Uncertain significance Single submitter
- USP47 p.Phe1120Cys Uncertain significance Single submitter
- USP47 p.Pro1166Leu Uncertain significance Single submitter
- USP47 p.Pro1348Ser Uncertain significance Single submitter
- USP47 p.Pro546Thr Uncertain significance Single submitter
- USP47 p.Pro596Arg Uncertain significance Single submitter
- USP47 p.Ser1002Gly Uncertain significance Single submitter
- USP47 p.Ser1152Thr Uncertain significance Single submitter
- USP47 p.Ser1231Asn Uncertain significance Single submitter
- USP47 p.Ser147Gly Uncertain significance Single submitter
- USP47 p.Ser244Ile Uncertain significance Single submitter
- USP47 p.Ser431Gly Uncertain significance Single submitter
- USP47 p.Ser522Asn Uncertain significance Single submitter
- USP47 p.Ser755Gly Uncertain significance Single submitter
- USP47 p.Ser88Asn Uncertain significance Single submitter
- USP47 p.Thr1353Asn Uncertain significance Single submitter
- USP47 p.Thr271Ala Uncertain significance Single submitter
- USP47 p.Thr679Met Uncertain significance Single submitter
- USP47 p.Thr723Lys Uncertain significance Single submitter
- USP47 p.Tyr1011His Uncertain significance Single submitter
- USP47 p.Tyr1019Phe Uncertain significance Single submitter
- USP47 p.Tyr717Cys Uncertain significance Single submitter
- USP47 p.Val1062Ile Uncertain significance Single submitter
- USP47 p.Val1225Ile Uncertain significance Single submitter
- USP47 p.Val150Ile Uncertain significance Single submitter
- USP47 p.Val722Ile Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- USP47 p.Ala1293Val Uncertain significance Single submitter
- USP47 p.Ala617Val Uncertain significance Single submitter
- USP47 p.Arg1076Trp Uncertain significance Single submitter
- USP47 p.Arg1329Leu Uncertain significance Single submitter
- USP47 p.Arg346Cys Uncertain significance Single submitter
- USP47 p.Arg354Trp Uncertain significance Single submitter
- USP47 p.Arg584His Uncertain significance Single submitter
- USP47 p.Arg715His Uncertain significance Single submitter
- USP47 p.Arg746His Uncertain significance Single submitter
- USP47 p.Asn421Tyr Uncertain significance Single submitter
- USP47 p.Asp1087Gly Uncertain significance Single submitter
- USP47 p.Asp1087Tyr Uncertain significance Single submitter
- USP47 p.Asp1267Ala Uncertain significance Single submitter
- USP47 p.Gln1109Leu Uncertain significance Single submitter
- USP47 p.Glu1197Asp Uncertain significance Single submitter
- USP47 p.Glu232Gln Uncertain significance Single submitter
- USP47 p.Glu656Lys Uncertain significance Single submitter
- USP47 p.Gly1101Glu Uncertain significance Single submitter
- USP47 p.Gly481Ala Uncertain significance Single submitter
- USP47 p.Ile1140Phe Uncertain significance Single submitter
- USP47 p.Ile1295Thr Uncertain significance Single submitter
- USP47 p.Ile1342Met Uncertain significance Single submitter
- USP47 p.Leu1111Ser Uncertain significance Single submitter
- USP47 p.Leu1171Ser Uncertain significance Single submitter
- USP47 p.Leu1193Phe Uncertain significance Single submitter
- USP47 p.Leu795Met Uncertain significance Single submitter
- USP47 p.Met740Thr Uncertain significance Single submitter
- USP47 p.Pro1051Leu Uncertain significance Single submitter
- USP47 p.Thr415Ala Uncertain significance Single submitter
- USP47 p.Thr534Ala Uncertain significance Single submitter
- USP47 p.Tyr1343His Uncertain significance Single submitter
- USP47 p.Tyr526His Uncertain significance Single submitter
- USP47 p.Val1188Ala Uncertain significance Single submitter
- USP47 p.Val694Glu Uncertain significance Single submitter
All USP47 variants
Benign 1
- p.Leu1110= Single submitter
Likely benign 3
- c.3583+5T>A Single submitter
- p.Asn103= Single submitter
- p.Ile712Val Single submitter
Uncertain significance 126
- c.970-2A>G Single submitter
- p.Ala1124Val Single submitter ⚠
- p.Ala1293Val Single submitter ⚠
- p.Ala419Thr Single submitter
- p.Ala617Val Single submitter ⚠
- p.Ala709Ser Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg1076Trp Single submitter ⚠
- p.Arg1133Gln Single submitter ⚠
- p.Arg1133Trp Single submitter ⚠
- p.Arg1211Gln Single submitter ⚠
- p.Arg1236Gln Single submitter ⚠
- p.Arg1329Cys Single submitter
- p.Arg1329His Single submitter ⚠
- p.Arg1329Leu Single submitter ⚠
- p.Arg132Gly Single submitter ⚠
- p.Arg238Gly Single submitter ⚠
- p.Arg346Cys Single submitter ⚠
- p.Arg354Gln Single submitter ⚠
- p.Arg354Trp Single submitter ⚠
- p.Arg584His Single submitter ⚠
- p.Arg715His Single submitter ⚠
- p.Arg746His Single submitter ⚠
- p.Arg752His Single submitter
- p.Asn1113Ser Single submitter ⚠
- p.Asn421Tyr Single submitter ⚠
- p.Asn449Ile Single submitter ⚠
- p.Asn749Ser Single submitter ⚠
- p.Asn96His Single submitter ⚠
- p.Asn979Lys Single submitter ⚠
- p.Asp1022Asn Single submitter ⚠
- p.Asp1087Gly Single submitter ⚠
- p.Asp1087Tyr Single submitter ⚠
- p.Asp1267Ala Single submitter ⚠
- p.Asp1299His Single submitter ⚠
- p.Asp396His Single submitter ⚠
- p.Asp828Asn Single submitter ⚠
- p.Asp834Gly Single submitter ⚠
- p.Asp835Gly Single submitter ⚠
- p.Asp925Asn Single submitter ⚠
- p.Asp94Ala Single submitter ⚠
- p.Asp955Val Single submitter
- p.Gln1109Leu Single submitter ⚠
- p.Gln1134Lys Single submitter ⚠
- p.Gln599Ter Single submitter
- p.Gln811Arg Single submitter ⚠
- p.Gln868Pro Single submitter ⚠
- p.Gln869Glu Single submitter ⚠
- p.Glu1137Lys Single submitter ⚠
- p.Glu1197Asp Single submitter ⚠
- p.Glu203Lys Single submitter ⚠
- p.Glu232Gln Single submitter ⚠
- p.Glu656Lys Single submitter ⚠
- p.Glu778Lys Single submitter ⚠
- p.Glu886Gly Single submitter ⚠
- p.Glu916Gly Single submitter ⚠
- p.Glu991Asp Single submitter ⚠
- p.Gly1003Ser Single submitter ⚠
- p.Gly1024Asp Single submitter ⚠
- p.Gly1101Glu Single submitter ⚠
- p.Gly1148Asp Single submitter ⚠
- p.Gly481Ala Single submitter ⚠
- p.Gly654Arg Single submitter ⚠
- p.Gly844Arg Single submitter ⚠
- p.Gly981Val Single submitter ⚠
- p.His1328Arg Single submitter
- p.His790Arg Single submitter ⚠
- p.His798Tyr Single submitter ⚠
- p.Ile1092Val Single submitter ⚠
- p.Ile1140Phe Single submitter ⚠
- p.Ile1295Thr Single submitter ⚠
- p.Ile1295Val Single submitter ⚠
- p.Ile1342Met Single submitter ⚠
- p.Ile231Val Single submitter ⚠
- p.Ile733Met Single submitter ⚠
- p.Ile802Val Single submitter ⚠
- p.Ile970Val Single submitter ⚠
- p.Leu1111Ser Single submitter ⚠
- p.Leu1171Ser Single submitter ⚠
- p.Leu1193Ile Single submitter ⚠
- p.Leu1193Phe Single submitter ⚠
- p.Leu1304Ile Single submitter ⚠
- p.Leu675Met Single submitter ⚠
- p.Leu795Met Single submitter ⚠
- p.Lys1218Asn Single submitter ⚠
- p.Lys668Arg Single submitter ⚠
- p.Lys840Glu Single submitter ⚠
- p.Met380Thr Single submitter ⚠
- p.Met397Leu Single submitter ⚠
- p.Met620Arg Single submitter ⚠
- p.Met740Thr Single submitter ⚠
- p.Phe1120Cys Single submitter ⚠
- p.Pro1051Leu Single submitter ⚠
- p.Pro1166Leu Single submitter ⚠
- p.Pro1348Ser Single submitter ⚠
- p.Pro546Thr Single submitter ⚠
- p.Pro596Arg Single submitter ⚠
- p.Ser1002Gly Single submitter ⚠
- p.Ser1152Thr Single submitter ⚠
- p.Ser1231Asn Single submitter ⚠
- p.Ser147Gly Single submitter ⚠
- p.Ser244Ile Single submitter ⚠
- p.Ser322Asn Single submitter
- p.Ser431Gly Single submitter ⚠
- p.Ser522Asn Single submitter ⚠
- p.Ser755Gly Single submitter ⚠
- p.Ser88Asn Single submitter ⚠
- p.Thr1353Asn Single submitter ⚠
- p.Thr271Ala Single submitter ⚠
- p.Thr415Ala Single submitter ⚠
- p.Thr534Ala Single submitter ⚠
- p.Thr679Met Single submitter ⚠
- p.Thr723Lys Single submitter ⚠
- p.Tyr1011His Single submitter ⚠
- p.Tyr1019Phe Single submitter ⚠
- p.Tyr1343His Single submitter ⚠
- p.Tyr526His Single submitter ⚠
- p.Tyr717Cys Single submitter ⚠
- p.Val1062Ile Single submitter ⚠
- p.Val1132Ile Single submitter
- p.Val1188Ala Single submitter ⚠
- p.Val1225Ile Single submitter ⚠
- p.Val150Ile Single submitter ⚠
- p.Val694Glu Single submitter ⚠
- p.Val722Ile Single submitter ⚠
- p.Val937Met Single submitter