PPIP5K2 — 148 ClinVar variants
All ClinVar germline PPIP5K2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
1 Conflicting · 36 Benign · 10 Likely benign · 101 Uncertain significance
Full PPIP5K2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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.
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PPIP5K2 p.Arg837His
Conflicting
Single submitter
hearing loss, autosomal recessive 100
Predictors lean, ClinVar uncertain 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPIP5K2 p.Ala1162Thr Uncertain significance Single submitter
- PPIP5K2 p.Ala1168Thr Uncertain significance Single submitter
- PPIP5K2 p.Ala1207Val Uncertain significance Single submitter
- PPIP5K2 p.Ala28Val Uncertain significance Single submitter
- PPIP5K2 p.Ala300Gly Uncertain significance Single submitter
- PPIP5K2 p.Arg1005Lys Uncertain significance Single submitter
- PPIP5K2 p.Arg1083Cys Uncertain significance Single submitter
- PPIP5K2 p.Arg1086His Uncertain significance Single submitter
- PPIP5K2 p.Arg1159Gln Uncertain significance Single submitter
- PPIP5K2 p.Arg1159Trp Uncertain significance Single submitter
- PPIP5K2 p.Arg1170Pro Uncertain significance Single submitter
- PPIP5K2 p.Arg1222Gln Uncertain significance Single submitter
- PPIP5K2 p.Arg156Cys Uncertain significance Single submitter
- PPIP5K2 p.Arg392Leu Uncertain significance Single submitter
- PPIP5K2 p.Arg622Gly Uncertain significance Single submitter
- PPIP5K2 p.Arg818His Uncertain significance Single submitter
- PPIP5K2 p.Arg943Gln Uncertain significance Single submitter
- PPIP5K2 p.Asn1039Asp Uncertain significance Single submitter
- PPIP5K2 p.Asn314Ser Uncertain significance Single submitter
- PPIP5K2 p.Asn737Ser Uncertain significance Single submitter
- PPIP5K2 p.Asn843His Uncertain significance Single submitter
- PPIP5K2 p.Asn90Ser Uncertain significance Single submitter
- PPIP5K2 p.Asp435Asn Uncertain significance Single submitter
- PPIP5K2 p.Asp630His Uncertain significance Single submitter
- PPIP5K2 p.Asp930Gly Uncertain significance Single submitter
- PPIP5K2 p.Cys94Tyr Uncertain significance Single submitter
- PPIP5K2 p.Gln1079Arg Uncertain significance Single submitter
- PPIP5K2 p.Gln405Glu Uncertain significance Single submitter
- PPIP5K2 p.Glu1163Asp Uncertain significance Single submitter
- PPIP5K2 p.Gly145Asp Uncertain significance Single submitter
- PPIP5K2 p.Gly253Asp Uncertain significance Single submitter
- PPIP5K2 p.Gly512Arg Uncertain significance Single submitter
- PPIP5K2 p.Gly986Cys Uncertain significance Single submitter
- PPIP5K2 p.His654Arg Uncertain significance Single submitter
- PPIP5K2 p.His959Gln Uncertain significance Single submitter
- PPIP5K2 p.Ile1226Leu Uncertain significance Single submitter
- PPIP5K2 p.Ile1226Val Uncertain significance Single submitter
- PPIP5K2 p.Ile946Leu Uncertain significance Single submitter
- PPIP5K2 p.Leu1047Val Uncertain significance Single submitter
- PPIP5K2 p.Lys1236Glu Uncertain significance Single submitter
- PPIP5K2 p.Lys162Thr Uncertain significance Single submitter
- PPIP5K2 p.Lys61Arg Uncertain significance Single submitter
- PPIP5K2 p.Lys969Arg Uncertain significance Single submitter
- PPIP5K2 p.Met442Thr Uncertain significance Single submitter
- PPIP5K2 p.Met572Thr Uncertain significance Single submitter
- PPIP5K2 p.Met951Val Uncertain significance Single submitter
- PPIP5K2 p.Phe407Tyr Uncertain significance Single submitter
- PPIP5K2 p.Phe925Ser Uncertain significance Single submitter
- PPIP5K2 p.Pro1054Thr Uncertain significance Single submitter
- PPIP5K2 p.Pro106Ala Uncertain significance Single submitter
- PPIP5K2 p.Pro1186Ser Uncertain significance Single submitter
- PPIP5K2 p.Pro1191Ser Uncertain significance Single submitter
- PPIP5K2 p.Pro1193Leu Uncertain significance Single submitter
- PPIP5K2 p.Ser1165Phe Uncertain significance Single submitter
- PPIP5K2 p.Ser419Leu Uncertain significance Single submitter
- PPIP5K2 p.Ser614Ile Uncertain significance Single submitter
- PPIP5K2 p.Ser672Thr Uncertain significance Single submitter
- PPIP5K2 p.Ser894Gly Uncertain significance Single submitter
- PPIP5K2 p.Ser936Cys Uncertain significance Single submitter
- PPIP5K2 p.Thr1046Ile Uncertain significance Single submitter
- PPIP5K2 p.Thr1055Ala Uncertain significance Single submitter
- PPIP5K2 p.Thr1055Pro Uncertain significance Single submitter
- PPIP5K2 p.Thr1183Met Uncertain significance Single submitter
- PPIP5K2 p.Thr1208Ile Uncertain significance Single submitter
- PPIP5K2 p.Thr1219Asn Uncertain significance Single submitter
- PPIP5K2 p.Thr780Ile Uncertain significance Single submitter
- PPIP5K2 p.Thr819Ala Uncertain significance Single submitter
- PPIP5K2 p.Thr987Ala Uncertain significance Single submitter
- PPIP5K2 p.Thr987Ile Uncertain significance Single submitter
- PPIP5K2 p.Tyr1040Phe Uncertain significance Single submitter
- PPIP5K2 p.Tyr1184Cys Uncertain significance Single submitter
- PPIP5K2 p.Tyr282Phe Uncertain significance Single submitter
- PPIP5K2 p.Val1157Ile Uncertain significance Single submitter
- PPIP5K2 p.Val322Gly Uncertain significance Single submitter
- PPIP5K2 p.Val46Ile Uncertain significance Single submitter
- PPIP5K2 p.Val945Ala Uncertain significance Single submitter
- PPIP5K2 p.Val9Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- PPIP5K2 p.Arg1001His Uncertain significance Single submitter
- PPIP5K2 p.Arg1002Gln Uncertain significance Single submitter
- PPIP5K2 p.Arg1086Ser Uncertain significance Single submitter
- PPIP5K2 p.Arg618His Uncertain significance Single submitter
- PPIP5K2 p.Arg680Gln Uncertain significance Single submitter
- PPIP5K2 p.Arg702His Uncertain significance Single submitter
- PPIP5K2 p.Asp632Tyr Uncertain significance Single submitter
- PPIP5K2 p.Glu363Lys Uncertain significance Single submitter
- PPIP5K2 p.Glu502Lys Uncertain significance Single submitter
- PPIP5K2 p.Gly1062Asp Uncertain significance Single submitter
- PPIP5K2 p.Ile786Leu Uncertain significance Single submitter
- PPIP5K2 p.Leu424Ile Uncertain significance Single submitter
- PPIP5K2 p.Lys187Asn Uncertain significance Single submitter
- PPIP5K2 p.Phe120Leu Uncertain significance Single submitter
- PPIP5K2 p.Pro161Ala Uncertain significance Single submitter
- PPIP5K2 p.Ser68Phe Uncertain significance Single submitter
- PPIP5K2 p.Ser705Cys Uncertain significance Single submitter
- PPIP5K2 p.Tyr113Phe Uncertain significance Single submitter
- PPIP5K2 p.Tyr72His Uncertain significance Single submitter
- PPIP5K2 p.Val1125Leu Uncertain significance Single submitter
All PPIP5K2 variants
Conflicting classifications of pathogenicity 1
- p.Arg837His Single submitter hearing loss, autosomal recessive 100 ⚠
Benign 36
- c.1029-163C>T Single submitter
- c.1029-169G>A Single submitter
- c.1130+118T>C Single submitter
- c.1131-41T>G Single submitter
- c.1294-17A>G Single submitter
- c.1404-111A>G Single submitter
- c.1738-99A>G Single submitter
- c.1921-49G>C Single submitter
- c.2062+40T>C Single submitter
- c.2287-210G>T Single submitter
- c.2637+33A>G Single submitter
- c.2754+102T>C Single submitter
- c.2923-140A>G Single submitter
- c.3170-125T>C Single submitter
- c.3620-23T>G Single submitter
- c.401+34A>G Single submitter
- c.643-104T>A Single submitter
- c.643-35G>A Single submitter
- c.907-234G>C Single submitter
- c.-284-87G>C Single submitter
- c.*22T>C Single submitter
- c.*44A>G Single submitter
- p.Ala1187= Single submitter
- p.Arg1042= Single submitter
- p.Pro1206Thr Single submitter PPIP5K2-related disorder
- p.Ser1228Gly Single submitter
- p.Ser419Ala Single submitter
- p.Thr1161= Single submitter
- p.Thr1161Ile Single submitter PPIP5K2-related disorder
- p.Thr1232Met Single submitter
- p.Val1215= Single submitter
- p.Val1215Asp Single submitter PPIP5K2-related disorder
- c.1028+10T>G No assertion criteria PPIP5K2-related disorder
- c.2530-809G>A No assertion criteria PPIP5K2-related disorder
- p.Asp124= No assertion criteria PPIP5K2-related disorder
- p.Asp725= No assertion criteria PPIP5K2-related disorder
Likely benign 10
- c.1737+19del Single submitter
- c.488-16C>T Single submitter
- p.Ala1195= Single submitter
- p.Ala313= Single submitter
- p.Leu362= Single submitter
- p.Leu552= Single submitter
- p.Leu612= Single submitter
- p.Lys421= Single submitter
- p.Lys685= Single submitter
- p.Thr970Met Single submitter
Uncertain significance 101
- p.Ala1162Thr Single submitter ⚠
- p.Ala1168Thr Single submitter ⚠
- p.Ala1207Val Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala300Gly Single submitter ⚠
- p.Arg1001His Single submitter ⚠
- p.Arg1002Gln Single submitter ⚠
- p.Arg1005Lys Single submitter ⚠
- p.Arg1083Cys Single submitter ⚠
- p.Arg1086His Single submitter ⚠
- p.Arg1086Ser Single submitter ⚠
- p.Arg1159Gln Single submitter ⚠
- p.Arg1159Trp Single submitter ⚠
- p.Arg1170Pro Single submitter ⚠
- p.Arg1222Gln Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg229Ter Single submitter hearing loss, autosomal recessive 100
- p.Arg392Leu Single submitter ⚠
- p.Arg618His Single submitter ⚠
- p.Arg622Gly Single submitter ⚠
- p.Arg680Gln Single submitter ⚠
- p.Arg702His Single submitter ⚠
- p.Arg818His Single submitter ⚠
- p.Arg943Gln Single submitter ⚠
- p.Asn1039Asp Single submitter ⚠
- p.Asn314Ser Single submitter ⚠
- p.Asn737Ser Single submitter ⚠
- p.Asn843His Single submitter ⚠
- p.Asn90Ser Single submitter ⚠
- p.Asp435Asn Single submitter ⚠
- p.Asp630His Single submitter ⚠
- p.Asp632Tyr Single submitter ⚠
- p.Asp930Gly Single submitter ⚠
- p.Cys900fs Single submitter
- p.Cys94Tyr Single submitter ⚠
- p.Gln1079Arg Single submitter ⚠
- p.Gln405Glu Single submitter ⚠
- p.Glu1163Asp Single submitter ⚠
- p.Glu363Lys Single submitter ⚠
- p.Glu502Lys Single submitter ⚠
- p.Gly1062Asp Single submitter ⚠
- p.Gly145Asp Single submitter ⚠
- p.Gly253Asp Single submitter ⚠
- p.Gly512Arg Single submitter ⚠
- p.Gly986Cys Single submitter ⚠
- p.His654Arg Single submitter ⚠
- p.His959Gln Single submitter ⚠
- p.Ile1226Leu Single submitter ⚠
- p.Ile1226Val Single submitter ⚠
- p.Ile786Leu Single submitter ⚠
- p.Ile946Leu Single submitter ⚠
- p.Leu1047Val Single submitter ⚠
- p.Leu424Ile Single submitter ⚠
- p.Lys1236Glu Single submitter ⚠
- p.Lys162Thr Single submitter ⚠
- p.Lys187Asn Single submitter ⚠
- p.Lys61Arg Single submitter ⚠
- p.Lys969Arg Single submitter ⚠
- p.Met442Thr Single submitter ⚠
- p.Met572Thr Single submitter ⚠
- p.Met951Val Single submitter ⚠
- p.Phe120Leu Single submitter ⚠
- p.Phe407Tyr Single submitter ⚠
- p.Phe925Ser Single submitter ⚠
- p.Pro1054Thr Single submitter ⚠
- p.Pro106Ala Single submitter ⚠
- p.Pro1186Ser Single submitter ⚠
- p.Pro1191Ser Single submitter ⚠
- p.Pro1193Leu Single submitter ⚠
- p.Pro161Ala Single submitter ⚠
- p.Ser1165Phe Single submitter ⚠
- p.Ser419Leu Single submitter ⚠
- p.Ser614Ile Single submitter ⚠
- p.Ser672Thr Single submitter ⚠
- p.Ser68Phe Single submitter ⚠
- p.Ser705Cys Single submitter ⚠
- p.Ser894Gly Single submitter ⚠
- p.Ser936Cys Single submitter ⚠
- p.Thr1046Ile Single submitter ⚠
- p.Thr1055Ala Single submitter ⚠
- p.Thr1055Pro Single submitter ⚠
- p.Thr1183Met Single submitter ⚠
- p.Thr1208Ile Single submitter ⚠
- p.Thr1219Asn Single submitter ⚠
- p.Thr780Ile Single submitter ⚠
- p.Thr819Ala Single submitter ⚠
- p.Thr987Ala Single submitter ⚠
- p.Thr987Ile Single submitter ⚠
- p.Tyr1040Phe Single submitter ⚠
- p.Tyr113Phe Single submitter ⚠
- p.Tyr1184Cys Single submitter ⚠
- p.Tyr282Phe Single submitter ⚠
- p.Tyr72His Single submitter ⚠
- p.Tyr838Cys Single submitter
- p.Val1125Leu Single submitter ⚠
- p.Val1157Ile Single submitter ⚠
- p.Val322Gly Single submitter ⚠
- p.Val46Ile Single submitter ⚠
- p.Val945Ala Single submitter ⚠
- p.Val9Ile Single submitter ⚠
- c.2063-1_2065del No assertion criteria prostate cancer