INPP5B — 186 ClinVar variants
All ClinVar germline INPP5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
1 Likely pathogenic · 50 Benign · 11 Likely benign · 124 Uncertain significance
Full INPP5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 92
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- INPP5B p.Ala150Val Uncertain significance Single submitter
- INPP5B p.Ala165Val Uncertain significance Single submitter
- INPP5B p.Ala20Val Uncertain significance Single submitter
- INPP5B p.Ala269Thr Uncertain significance Single submitter
- INPP5B p.Ala359Val Uncertain significance Single submitter
- INPP5B p.Ala402Val Uncertain significance Single submitter
- INPP5B p.Ala484Thr Uncertain significance Single submitter
- INPP5B p.Ala797Ser Uncertain significance Single submitter
- INPP5B p.Ala888Thr Uncertain significance Single submitter
- INPP5B p.Arg223His Uncertain significance Single submitter
- INPP5B p.Arg40Cys Uncertain significance Single submitter
- INPP5B p.Arg40Ser Uncertain significance Single submitter
- INPP5B p.Arg421Leu Uncertain significance Single submitter
- INPP5B p.Arg42His Uncertain significance Single submitter
- INPP5B p.Arg525Gln Uncertain significance Single submitter
- INPP5B p.Arg569Gln Uncertain significance Single submitter
- INPP5B p.Arg77Trp Uncertain significance Single submitter
- INPP5B p.Arg885Gln Uncertain significance Single submitter
- INPP5B p.Asn181Asp Uncertain significance Single submitter
- INPP5B p.Asn438Ser Uncertain significance Single submitter
- INPP5B p.Asn449Ser Uncertain significance Single submitter
- INPP5B p.Asp315Asn Uncertain significance Single submitter
- INPP5B p.Asp468Asn Uncertain significance Single submitter
- INPP5B p.Asp565Asn Uncertain significance Single submitter
- INPP5B p.Asp793Asn Uncertain significance Single submitter
- INPP5B p.Cys149Tyr Uncertain significance Single submitter
- INPP5B p.Cys162Phe Uncertain significance Single submitter
- INPP5B p.Cys17Arg Uncertain significance Single submitter
- INPP5B p.Gln292Pro Uncertain significance Single submitter
- INPP5B p.Gln423Arg Uncertain significance Single submitter
- INPP5B p.Glu124Lys Uncertain significance Single submitter
- INPP5B p.Glu153Lys Uncertain significance Single submitter
- INPP5B p.Glu205Gln Uncertain significance Single submitter
- INPP5B p.Glu217Lys Uncertain significance Single submitter
- INPP5B p.Glu367Lys Uncertain significance Single submitter
- INPP5B p.Glu407Gly Uncertain significance Single submitter
- INPP5B p.Glu828Lys Uncertain significance Single submitter
- INPP5B p.Gly161Ser Uncertain significance Single submitter
- INPP5B p.Gly161Val Uncertain significance Single submitter
- INPP5B p.Gly646Ala Uncertain significance Single submitter
- INPP5B p.Gly697Trp Uncertain significance Single submitter
- INPP5B p.His314Asn Uncertain significance Single submitter
- INPP5B p.His50Gln Uncertain significance Single submitter
- INPP5B p.His709Pro Uncertain significance Single submitter
- INPP5B p.His852Tyr Uncertain significance Single submitter
- INPP5B p.His890Tyr Uncertain significance Single submitter
- INPP5B p.Ile19Phe Uncertain significance Single submitter
- INPP5B p.Ile342Thr Uncertain significance Single submitter
- INPP5B p.Ile405Val Uncertain significance Single submitter
- INPP5B p.Ile792Thr Uncertain significance Single submitter
- INPP5B p.Ile818Val Uncertain significance Single submitter
- INPP5B p.Ile845Leu Uncertain significance Single submitter
- INPP5B p.Leu108Phe Uncertain significance Single submitter
- INPP5B p.Leu142Pro Uncertain significance Single submitter
- INPP5B p.Leu592Arg Uncertain significance Single submitter
- INPP5B p.Leu723Phe Uncertain significance Single submitter
- INPP5B p.Leu731Val Uncertain significance Single submitter
- INPP5B p.Lys203Thr Uncertain significance Single submitter
- INPP5B p.Met156Val Uncertain significance Single submitter
- INPP5B p.Met221Lys Uncertain significance Single submitter
- INPP5B p.Met238Ile Uncertain significance Single submitter
- INPP5B p.Met665Ile Uncertain significance Single submitter
- INPP5B p.Phe313Leu Uncertain significance Single submitter
- INPP5B p.Phe623Ser Uncertain significance Single submitter
- INPP5B p.Phe704Leu Uncertain significance Single submitter
- INPP5B p.Ser180Phe Uncertain significance Single submitter
- INPP5B p.Ser206Arg Uncertain significance Single submitter
- INPP5B p.Ser230Leu Uncertain significance Single submitter
- INPP5B p.Ser307Cys Uncertain significance Single submitter
- INPP5B p.Ser399Ala Uncertain significance Single submitter
- INPP5B p.Ser68Pro Uncertain significance Single submitter
- INPP5B p.Ser76Leu Uncertain significance Single submitter
- INPP5B p.Ser821Gly Uncertain significance Single submitter
- INPP5B p.Ser830Cys Uncertain significance Single submitter
- INPP5B p.Ser95Leu Uncertain significance Single submitter
- INPP5B p.Thr136Ile Uncertain significance Single submitter
- INPP5B p.Thr158Ala Uncertain significance Single submitter
- INPP5B p.Thr228Ala Uncertain significance Single submitter
- INPP5B p.Thr506Met Uncertain significance Single submitter
- INPP5B p.Thr534Ile Uncertain significance Single submitter
- INPP5B p.Thr80Met Uncertain significance Single submitter
- INPP5B p.Trp322Cys Uncertain significance Single submitter
- INPP5B p.Tyr147His Uncertain significance Single submitter
- INPP5B p.Val109Ile Uncertain significance Single submitter
- INPP5B p.Val383Met Uncertain significance Single submitter
- INPP5B p.Val39Met Uncertain significance Single submitter
- INPP5B p.Val487Ala Uncertain significance Single submitter
- INPP5B p.Val654Ala Uncertain significance Single submitter
- INPP5B p.Val682Ile Uncertain significance Single submitter
- INPP5B p.Val99Ile Uncertain significance Single submitter
-
INPP5B p.Pro74Ser
Uncertain significance
No assertion criteria
INPP5B-related disorder
- INPP5B p.Thr10Met Uncertain significance No assertion criteria
Predictors split 26
The independent predictors disagree with each other — read with care.
- INPP5B p.Gly46Ser Benign Multiple submitters
- INPP5B p.Ala325Thr Uncertain significance Single submitter
- INPP5B p.Arg31Gly Uncertain significance Single submitter
- INPP5B p.Arg34His Uncertain significance Single submitter
- INPP5B p.Arg561Ser Uncertain significance Single submitter
- INPP5B p.Arg569Trp Uncertain significance Single submitter
- INPP5B p.Gln773His Uncertain significance Single submitter
- INPP5B p.Glu495Gly Uncertain significance Single submitter
- INPP5B p.His615Tyr Uncertain significance Single submitter
- INPP5B p.Ile442Thr Uncertain significance Single submitter
- INPP5B p.Ile62Thr Uncertain significance Single submitter
- INPP5B p.Ile677Phe Uncertain significance Single submitter
- INPP5B p.Lys669Glu Uncertain significance Single submitter
- INPP5B p.Lys900Glu Uncertain significance Single submitter
- INPP5B p.Lys900Thr Uncertain significance Single submitter
- INPP5B p.Met582Thr Uncertain significance Single submitter
- INPP5B p.Met714Val Uncertain significance Single submitter
- INPP5B p.Phe612Leu Uncertain significance Single submitter
- INPP5B p.Phe780Leu Uncertain significance Single submitter
- INPP5B p.Pro433Leu Uncertain significance Single submitter
- INPP5B p.Ser393Ile Uncertain significance Single submitter
- INPP5B p.Ser420Phe Uncertain significance Single submitter
- INPP5B p.Ser68Tyr Uncertain significance Single submitter
- INPP5B p.Ser865Pro Uncertain significance Single submitter
- INPP5B p.Thr710Lys Uncertain significance Single submitter
- INPP5B p.Tyr761His Uncertain significance Single submitter
All INPP5B variants
Likely pathogenic 1
- p.Ala51Val No assertion criteria Dent disease type 2
Benign 50
- c.1015-173C>G Multiple submitters
- c.1432-30T>G Multiple submitters
- c.152+153T>C Multiple submitters
- c.152+78G>A Multiple submitters
- c.153-51C>T Multiple submitters
- c.153-70C>T Multiple submitters
- c.1951+6G>A Multiple submitters
- c.2188-31A>T Multiple submitters
- c.2188-32G>T Multiple submitters
- c.2627-52C>A Multiple submitters
- c.281-156T>C Multiple submitters
- c.392-96G>A Multiple submitters
- c.532+216G>A Multiple submitters
- c.532+61G>A Multiple submitters
- c.58-129C>T Multiple submitters
- c.58-5C>T Multiple submitters
- c.629+160C>G Multiple submitters
- c.630-124T>C Multiple submitters
- c.-26-42A>G Multiple submitters
- c.*5C>A Multiple submitters
- p.Asp468= Multiple submitters
- p.Asp871His Multiple submitters
- p.Gly46Ser Multiple submitters ⚠
- p.His45= Multiple submitters
- p.Met665Thr Multiple submitters
- c.1678-130C>T Single submitter
- c.1678-228G>T Single submitter
- c.1952-176_1952-175insT Single submitter
- c.2301+168dup Single submitter
- c.2302-123dup Single submitter
- c.2386+47_2386+56del Single submitter
- c.2386+49_2386+56del Single submitter
- c.2386+52GA[12] Single submitter
- c.2386+52GA[13] Single submitter
- c.2386+52GA[15] Single submitter
- c.2387-239G>C Single submitter
- c.251-54G>A Single submitter
- c.2627-58GT[2] Single submitter
- c.280+200A>T Single submitter
- c.280+209C>G Single submitter
- c.392-103_392-101del Single submitter
- c.392-112_392-108del Single submitter
- c.629+116dup Single submitter
- c.797+126C>A Single submitter
- c.798-230C>T Single submitter
- c.*50_*51del Single submitter
- c.532+213G>T No assertion criteria INPP5B-related disorder
- c.532+215C>T No assertion criteria INPP5B-related disorder
- p.Ile291= No assertion criteria INPP5B-related disorder
- p.Ile92Asn No assertion criteria INPP5B-related disorder
Likely benign 11
- p.Ala269Val Single submitter
- p.Arg859Gln Single submitter
- p.His123= Single submitter
- p.Trp735Arg Single submitter
- p.Val18Ile Single submitter
- p.Val396Ile Single submitter
- p.Ala366= No assertion criteria INPP5B-related disorder
- p.Asn163Ter No assertion criteria INPP5B-related disorder
- p.Glu321= No assertion criteria INPP5B-related disorder
- p.Ile558= No assertion criteria INPP5B-related disorder
- p.Leu252= No assertion criteria INPP5B-related disorder
Uncertain significance 124
- p.Ala150Val Single submitter ⚠
- p.Ala165Val Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala269Thr Single submitter ⚠
- p.Ala325Thr Single submitter ⚠
- p.Ala359Val Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala484Thr Single submitter ⚠
- p.Ala797Ser Single submitter ⚠
- p.Ala888Thr Single submitter ⚠
- p.Arg223His Single submitter ⚠
- p.Arg31Gly Single submitter ⚠
- p.Arg34His Single submitter ⚠
- p.Arg40Cys Single submitter ⚠
- p.Arg40Ser Single submitter ⚠
- p.Arg421Leu Single submitter ⚠
- p.Arg42His Single submitter ⚠
- p.Arg525Gln Single submitter ⚠
- p.Arg561Ser Single submitter ⚠
- p.Arg569Gln Single submitter ⚠
- p.Arg569Trp Single submitter ⚠
- p.Arg77Trp Single submitter ⚠
- p.Arg885Gln Single submitter ⚠
- p.Asn181Asp Single submitter ⚠
- p.Asn438Ser Single submitter ⚠
- p.Asn449Ser Single submitter ⚠
- p.Asp315Asn Single submitter ⚠
- p.Asp468Asn Single submitter ⚠
- p.Asp565Asn Single submitter ⚠
- p.Asp793Asn Single submitter ⚠
- p.Cys149Tyr Single submitter ⚠
- p.Cys162Phe Single submitter ⚠
- p.Cys17Arg Single submitter ⚠
- p.Gln292Pro Single submitter ⚠
- p.Gln423Arg Single submitter ⚠
- p.Gln773His Single submitter ⚠
- p.Glu124Lys Single submitter ⚠
- p.Glu153Lys Single submitter ⚠
- p.Glu205Gln Single submitter ⚠
- p.Glu217Lys Single submitter ⚠
- p.Glu367Lys Single submitter ⚠
- p.Glu407Gly Single submitter ⚠
- p.Glu495Gly Single submitter ⚠
- p.Glu828Lys Single submitter ⚠
- p.Gly161Ser Single submitter ⚠
- p.Gly161Val Single submitter ⚠
- p.Gly646Ala Single submitter ⚠
- p.Gly697Trp Single submitter ⚠
- p.His314Asn Single submitter ⚠
- p.His50Gln Single submitter ⚠
- p.His615Tyr Single submitter ⚠
- p.His709Pro Single submitter ⚠
- p.His852Tyr Single submitter ⚠
- p.His890Tyr Single submitter ⚠
- p.Ile19Phe Single submitter ⚠
- p.Ile342Thr Single submitter ⚠
- p.Ile405Val Single submitter ⚠
- p.Ile442Thr Single submitter ⚠
- p.Ile62Thr Single submitter ⚠
- p.Ile677Phe Single submitter ⚠
- p.Ile792Thr Single submitter ⚠
- p.Ile818Val Single submitter ⚠
- p.Ile845Leu Single submitter ⚠
- p.Leu108Phe Single submitter ⚠
- p.Leu11Met Single submitter
- p.Leu142Pro Single submitter ⚠
- p.Leu236Ser Single submitter
- p.Leu592Arg Single submitter ⚠
- p.Leu681Val Single submitter
- p.Leu723Phe Single submitter ⚠
- p.Leu731Val Single submitter ⚠
- p.Lys203Thr Single submitter ⚠
- p.Lys669Glu Single submitter ⚠
- p.Lys900Glu Single submitter ⚠
- p.Lys900Thr Single submitter ⚠
- p.Met156Val Single submitter ⚠
- p.Met221Lys Single submitter ⚠
- p.Met238Ile Single submitter ⚠
- p.Met582Thr Single submitter ⚠
- p.Met665Ile Single submitter ⚠
- p.Met714Lys Single submitter
- p.Met714Val Single submitter ⚠
- p.Phe313Leu Single submitter ⚠
- p.Phe612Leu Single submitter ⚠
- p.Phe623Ser Single submitter ⚠
- p.Phe704Leu Single submitter ⚠
- p.Phe780Leu Single submitter ⚠
- p.Pro433Leu Single submitter ⚠
- p.Ser180Phe Single submitter ⚠
- p.Ser206Arg Single submitter ⚠
- p.Ser230Leu Single submitter ⚠
- p.Ser307Cys Single submitter ⚠
- p.Ser393Ile Single submitter ⚠
- p.Ser399Ala Single submitter ⚠
- p.Ser420Phe Single submitter ⚠
- p.Ser540Asn Single submitter
- p.Ser68Pro Single submitter ⚠
- p.Ser68Tyr Single submitter ⚠
- p.Ser76Leu Single submitter ⚠
- p.Ser821Gly Single submitter ⚠
- p.Ser830Cys Single submitter ⚠
- p.Ser865Pro Single submitter ⚠
- p.Ser95Leu Single submitter ⚠
- p.Thr103Ile Single submitter
- p.Thr136Ile Single submitter ⚠
- p.Thr158Ala Single submitter ⚠
- p.Thr228Ala Single submitter ⚠
- p.Thr506Met Single submitter ⚠
- p.Thr534Ile Single submitter ⚠
- p.Thr710Lys Single submitter ⚠
- p.Thr80Met Single submitter ⚠
- p.Trp322Cys Single submitter ⚠
- p.Tyr147His Single submitter ⚠
- p.Tyr761His Single submitter ⚠
- p.Val109Ile Single submitter ⚠
- p.Val383Met Single submitter ⚠
- p.Val39Met Single submitter ⚠
- p.Val487Ala Single submitter ⚠
- p.Val590Leu Single submitter
- p.Val654Ala Single submitter ⚠
- p.Val682Ile Single submitter ⚠
- p.Val99Ile Single submitter ⚠
- p.Pro74Ser No assertion criteria INPP5B-related disorder ⚠
- p.Thr10Met No assertion criteria ⚠