VPS51 — 169 ClinVar variants
All ClinVar germline VPS51 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 4 Benign · 1 Benign/Likely benign · 20 Likely benign · 139 Uncertain significance
Full VPS51 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 129
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 106
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- VPS51 p.Ala357Val Uncertain significance Multiple submitters
- VPS51 p.Arg240His Uncertain significance Multiple submitters
-
VPS51 p.Pro11Leu
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia, type 13
- VPS51 p.Ala168Gly Uncertain significance Single submitter
- VPS51 p.Ala168Thr Uncertain significance Single submitter
- VPS51 p.Ala208Thr Uncertain significance Single submitter
- VPS51 p.Ala234Ser Uncertain significance Single submitter
- VPS51 p.Ala248Ser Uncertain significance Single submitter
- VPS51 p.Ala248Val Uncertain significance Single submitter
- VPS51 p.Ala274Gly Uncertain significance Single submitter
- VPS51 p.Ala297Val Uncertain significance Single submitter
- VPS51 p.Ala320Val Uncertain significance Single submitter
- VPS51 p.Ala321Thr Uncertain significance Single submitter
- VPS51 p.Ala338Val Uncertain significance Single submitter
- VPS51 p.Ala341Val Uncertain significance Single submitter
- VPS51 p.Ala394Gly Uncertain significance Single submitter
- VPS51 p.Ala459Val Uncertain significance Single submitter
- VPS51 p.Ala48Val Uncertain significance Single submitter
- VPS51 p.Ala4Thr Uncertain significance Single submitter
- VPS51 p.Ala4Val Uncertain significance Single submitter
- VPS51 p.Ala537Val Uncertain significance Single submitter
- VPS51 p.Ala5Thr Uncertain significance Single submitter
- VPS51 p.Ala5Val Uncertain significance Single submitter
- VPS51 p.Ala622Thr Uncertain significance Single submitter
- VPS51 p.Ala66Ser Uncertain significance Single submitter
- VPS51 p.Ala758Thr Uncertain significance Single submitter
- VPS51 p.Arg123Gln Uncertain significance Single submitter
- VPS51 p.Arg163His Uncertain significance Single submitter
- VPS51 p.Arg232Leu Uncertain significance Single submitter
- VPS51 p.Arg240Cys Uncertain significance Single submitter
- VPS51 p.Arg342Gln Uncertain significance Single submitter
- VPS51 p.Arg347Cys Uncertain significance Single submitter
- VPS51 p.Arg378Cys Uncertain significance Single submitter
- VPS51 p.Arg380Trp Uncertain significance Single submitter
- VPS51 p.Arg404Leu Uncertain significance Single submitter
- VPS51 p.Arg406His Uncertain significance Single submitter
- VPS51 p.Arg415Gln Uncertain significance Single submitter
- VPS51 p.Arg433Pro Uncertain significance Single submitter
- VPS51 p.Arg481Trp Uncertain significance Single submitter
- VPS51 p.Arg529Cys Uncertain significance Single submitter
- VPS51 p.Arg573Leu Uncertain significance Single submitter
- VPS51 p.Arg574Gln Uncertain significance Single submitter
- VPS51 p.Arg607Trp Uncertain significance Single submitter
- VPS51 p.Arg610Gln Uncertain significance Single submitter
- VPS51 p.Asn142Asp Uncertain significance Single submitter
- VPS51 p.Asn365Ser Uncertain significance Single submitter
- VPS51 p.Asp103Asn Uncertain significance Single submitter
- VPS51 p.Asp159Asn Uncertain significance Single submitter
- VPS51 p.Asp731Val Uncertain significance Single submitter
- VPS51 p.Cys502Tyr Uncertain significance Single submitter
- VPS51 p.Cys764Gly Uncertain significance Single submitter
- VPS51 p.Gln214Glu Uncertain significance Single submitter
- VPS51 p.Gln317Arg Uncertain significance Single submitter
- VPS51 p.Gln85His Uncertain significance Single submitter
- VPS51 p.Gln96Lys Uncertain significance Single submitter
- VPS51 p.Glu23Asp Uncertain significance Single submitter
- VPS51 p.Glu270Lys Uncertain significance Single submitter
-
VPS51 p.Glu290Gln
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 13
- VPS51 p.Glu405Gln Uncertain significance Single submitter
- VPS51 p.Glu405Lys Uncertain significance Single submitter
- VPS51 p.Glu45Lys Uncertain significance Single submitter
- VPS51 p.Glu567Asp Uncertain significance Single submitter
- VPS51 p.Gly12Arg Uncertain significance Single submitter
- VPS51 p.Gly197Glu Uncertain significance Single submitter
- VPS51 p.Gly278Asp Uncertain significance Single submitter
- VPS51 p.Gly314Ser Uncertain significance Single submitter
- VPS51 p.Gly383Arg Uncertain significance Single submitter
- VPS51 p.Gly517Asp Uncertain significance Single submitter
- VPS51 p.His161Gln Uncertain significance Single submitter
- VPS51 p.His67Gln Uncertain significance Single submitter
- VPS51 p.His67Leu Uncertain significance Single submitter
- VPS51 p.Ile153Val Uncertain significance Single submitter
- VPS51 p.Leu273Val Uncertain significance Single submitter
- VPS51 p.Leu591Pro Uncertain significance Single submitter
- VPS51 p.Leu601Ile Uncertain significance Single submitter
- VPS51 p.Leu604Pro Uncertain significance Single submitter
- VPS51 p.Lys131Gln Uncertain significance Single submitter
- VPS51 p.Lys32Arg Uncertain significance Single submitter
- VPS51 p.Lys477Gln Uncertain significance Single submitter
- VPS51 p.Lys637Arg Uncertain significance Single submitter
- VPS51 p.Met104Thr Uncertain significance Single submitter
- VPS51 p.Met501Val Uncertain significance Single submitter
- VPS51 p.Pro22Ser Uncertain significance Single submitter
- VPS51 p.Pro249Arg Uncertain significance Single submitter
- VPS51 p.Pro249Leu Uncertain significance Single submitter
- VPS51 p.Pro249Ser Uncertain significance Single submitter
- VPS51 p.Pro382Thr Uncertain significance Single submitter
- VPS51 p.Pro55Ser Uncertain significance Single submitter
- VPS51 p.Pro669Leu Uncertain significance Single submitter
- VPS51 p.Pro9Ser Uncertain significance Single submitter
- VPS51 p.Ser309Arg Uncertain significance Single submitter
- VPS51 p.Ser455Asn Uncertain significance Single submitter
- VPS51 p.Ser652Gly Uncertain significance Single submitter
- VPS51 p.Ser663Asn Uncertain significance Single submitter
- VPS51 p.Ser698Leu Uncertain significance Single submitter
- VPS51 p.Thr156Met Uncertain significance Single submitter
- VPS51 p.Thr563Met Uncertain significance Single submitter
- VPS51 p.Thr571Met Uncertain significance Single submitter
- VPS51 p.Thr647Ser Uncertain significance Single submitter
- VPS51 p.Tyr322Cys Uncertain significance Single submitter
- VPS51 p.Val191Met Uncertain significance Single submitter
- VPS51 p.Val300Met Uncertain significance Single submitter
- VPS51 p.Val318Leu Uncertain significance Single submitter
- VPS51 p.Val352Met Uncertain significance Single submitter
- VPS51 p.Val552Ala Uncertain significance Single submitter
- VPS51 p.Val552Met Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- VPS51 p.Ala2Val Uncertain significance Single submitter
- VPS51 p.Arg220His Uncertain significance Single submitter
- VPS51 p.Arg232Cys Uncertain significance Single submitter
- VPS51 p.Arg30Trp Uncertain significance Single submitter
- VPS51 p.Arg354Trp Uncertain significance Single submitter
- VPS51 p.Arg415Trp Uncertain significance Single submitter
- VPS51 p.Arg636Cys Uncertain significance Single submitter
- VPS51 p.Glu746Asp Uncertain significance Single submitter
- VPS51 p.Gly330Val Uncertain significance Single submitter
- VPS51 p.Gly492Cys Uncertain significance Single submitter
- VPS51 p.Leu177Val Uncertain significance Single submitter
- VPS51 p.Leu748Phe Uncertain significance Single submitter
- VPS51 p.Phe326Leu Uncertain significance Single submitter
- VPS51 p.Phe340Leu Uncertain significance Single submitter
- VPS51 p.Phe349Leu Uncertain significance Single submitter
- VPS51 p.Phe648Leu Uncertain significance Single submitter
- VPS51 p.Pro15His Uncertain significance Single submitter
- VPS51 p.Pro217Ser Uncertain significance Single submitter
- VPS51 p.Pro669Arg Uncertain significance Single submitter
- VPS51 p.Ser644Asn Uncertain significance Single submitter
- VPS51 p.Val369Leu Uncertain significance Single submitter
- VPS51 p.Val498Ala Uncertain significance Single submitter
- VPS51 p.Val627Met Uncertain significance Single submitter
All VPS51 variants
Pathogenic 3
- p.Arg490Cys Single submitter pontocerebellar hypoplasia, type 13
- p.Asp745fs No assertion criteria pontocerebellar hypoplasia, type 13
- p.Phe474del No assertion criteria pontocerebellar hypoplasia, type 13
Likely pathogenic 2
- p.Asp137fs Single submitter pontocerebellar hypoplasia, type 13
- p.Gln553Ter Single submitter pontocerebellar hypoplasia, type 13
Benign 4
- c.1444-12C>T Multiple submitters
- c.1879-7C>T Multiple submitters
- c.228+26del Single submitter
- c.359-17C>G Single submitter
Benign/Likely benign 1
- c.1443+4C>T Multiple submitters
Likely benign 20
- p.Ser218= Multiple submitters
- c.1660-11C>T Single submitter
- c.2088+12A>G Single submitter
- c.228+8C>T Single submitter
- p.Ala443= Single submitter
- p.Ala84= Single submitter
- p.Arg232= Single submitter
- p.His306Arg Single submitter
- p.Ile623= Single submitter
- p.Ile678= Single submitter
- p.Leu674= Single submitter
- p.Ser10Gly Single submitter
- p.Ser594= Single submitter
- p.Ser690Thr Single submitter
- p.Thr719= Single submitter
- p.Val561= Single submitter
- p.Ala140= No assertion criteria VPS51-related disorder
- p.Ala387= No assertion criteria VPS51-related disorder
- p.Ala389= No assertion criteria VPS51-related disorder
- p.Arg636= No assertion criteria VPS51-related disorder
Uncertain significance 139
- p.Ala357Val Multiple submitters ⚠
- p.Arg240His Multiple submitters ⚠
- p.Pro11Leu Multiple submitters pontocerebellar hypoplasia, type 13 ⚠
- c.1443+5G>A Single submitter pontocerebellar hypoplasia, type 13
- p.Ala168Gly Single submitter ⚠
- p.Ala168Thr Single submitter ⚠
- p.Ala208Thr Single submitter ⚠
- p.Ala234Ser Single submitter ⚠
- p.Ala248Ser Single submitter ⚠
- p.Ala248Val Single submitter ⚠
- p.Ala274Gly Single submitter ⚠
- p.Ala297Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala320Val Single submitter ⚠
- p.Ala321Thr Single submitter ⚠
- p.Ala338Val Single submitter ⚠
- p.Ala341Val Single submitter ⚠
- p.Ala392fs Single submitter pontocerebellar hypoplasia, type 13
- p.Ala394Gly Single submitter ⚠
- p.Ala459Val Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala537Val Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Ala622Thr Single submitter ⚠
- p.Ala66Ser Single submitter ⚠
- p.Ala758Thr Single submitter ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg163His Single submitter ⚠
- p.Arg186His Single submitter
- p.Arg220His Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg232Leu Single submitter ⚠
- p.Arg240Cys Single submitter ⚠
- p.Arg30Trp Single submitter ⚠
- p.Arg342Gln Single submitter ⚠
- p.Arg347Cys Single submitter ⚠
- p.Arg354Trp Single submitter ⚠
- p.Arg378Cys Single submitter ⚠
- p.Arg380Trp Single submitter ⚠
- p.Arg404Leu Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg415Gln Single submitter ⚠
- p.Arg415Trp Single submitter ⚠
- p.Arg433Pro Single submitter ⚠
- p.Arg481Trp Single submitter ⚠
- p.Arg529Cys Single submitter ⚠
- p.Arg573Leu Single submitter ⚠
- p.Arg574Gln Single submitter ⚠
- p.Arg607Trp Single submitter ⚠
- p.Arg610Gln Single submitter ⚠
- p.Arg636Cys Single submitter ⚠
- p.Asn142Asp Single submitter ⚠
- p.Asn365Ser Single submitter ⚠
- p.Asp103Asn Single submitter ⚠
- p.Asp159Asn Single submitter ⚠
- p.Asp731Val Single submitter ⚠
- p.Cys502Tyr Single submitter ⚠
- p.Cys509fs Single submitter
- p.Cys764Gly Single submitter ⚠
- p.Gln214Glu Single submitter ⚠
- p.Gln317Arg Single submitter ⚠
- p.Gln85His Single submitter ⚠
- p.Gln96Lys Single submitter ⚠
- p.Glu23Asp Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu290Gln Single submitter pontocerebellar hypoplasia, type 13 ⚠
- p.Glu405Gln Single submitter ⚠
- p.Glu405Lys Single submitter ⚠
- p.Glu444Lys Single submitter
- p.Glu45Lys Single submitter ⚠
- p.Glu567Asp Single submitter ⚠
- p.Glu746Asp Single submitter ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly197Glu Single submitter ⚠
- p.Gly278Asp Single submitter ⚠
- p.Gly314Ser Single submitter ⚠
- p.Gly330Val Single submitter ⚠
- p.Gly383Arg Single submitter ⚠
- p.Gly492Cys Single submitter ⚠
- p.Gly517Asp Single submitter ⚠
- p.His161Gln Single submitter ⚠
- p.His67Gln Single submitter ⚠
- p.His67Leu Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Leu177Val Single submitter ⚠
- p.Leu233Met Single submitter
- p.Leu273Val Single submitter ⚠
- p.Leu591Pro Single submitter ⚠
- p.Leu601Ile Single submitter ⚠
- p.Leu604Pro Single submitter ⚠
- p.Leu748Phe Single submitter ⚠
- p.Lys131Gln Single submitter ⚠
- p.Lys32Arg Single submitter ⚠
- p.Lys470Ter Single submitter
- p.Lys477Gln Single submitter ⚠
- p.Lys637Arg Single submitter ⚠
- p.Met104Thr Single submitter ⚠
- p.Met501Val Single submitter ⚠
- p.Phe326Leu Single submitter ⚠
- p.Phe340Leu Single submitter ⚠
- p.Phe349Leu Single submitter ⚠
- p.Phe648Leu Single submitter ⚠
- p.Pro15His Single submitter ⚠
- p.Pro217Ser Single submitter ⚠
- p.Pro22Ser Single submitter ⚠
- p.Pro249Arg Single submitter ⚠
- p.Pro249Leu Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro382Thr Single submitter ⚠
- p.Pro55Ser Single submitter ⚠
- p.Pro669Arg Single submitter ⚠
- p.Pro669Leu Single submitter ⚠
- p.Pro9Ser Single submitter ⚠
- p.Ser309Arg Single submitter ⚠
- p.Ser455Asn Single submitter ⚠
- p.Ser644Asn Single submitter ⚠
- p.Ser652Gly Single submitter ⚠
- p.Ser663Asn Single submitter ⚠
- p.Ser698Leu Single submitter ⚠
- p.Thr141del Single submitter pontocerebellar hypoplasia, type 13
- p.Thr156Met Single submitter ⚠
- p.Thr563Met Single submitter ⚠
- p.Thr571Met Single submitter ⚠
- p.Thr647Ser Single submitter ⚠
- p.Tyr322Cys Single submitter ⚠
- p.Val191Met Single submitter ⚠
- p.Val300Met Single submitter ⚠
- p.Val318Leu Single submitter ⚠
- p.Val352Met Single submitter ⚠
- p.Val369Leu Single submitter ⚠
- p.Val498Ala Single submitter ⚠
- p.Val552Ala Single submitter ⚠
- p.Val552Met Single submitter ⚠
- p.Val627Met Single submitter ⚠
- p.Val715fs Single submitter pontocerebellar hypoplasia, type 13
- c.1878+42G>A No assertion criteria pontocerebellar hypoplasia, type 13