WDR48 — 47 ClinVar variants
All ClinVar germline WDR48 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
4 Benign · 7 Likely benign · 36 Uncertain significance
Full WDR48 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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WDR48 p.Ser94Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
- WDR48 p.Ala175Val Uncertain significance Single submitter
- WDR48 p.Asn167Ser Uncertain significance Single submitter
- WDR48 p.Asn322His Uncertain significance Single submitter
- WDR48 p.Asn43Ser Uncertain significance Single submitter
- WDR48 p.Asn498Ser Uncertain significance Single submitter
- WDR48 p.Cys342Gly Uncertain significance Single submitter
- WDR48 p.Cys350Ser Uncertain significance Single submitter
- WDR48 p.Cys438Tyr Uncertain significance Single submitter
- WDR48 p.Glu495Asp Uncertain significance Single submitter
- WDR48 p.His74Leu Uncertain significance Single submitter
-
WDR48 p.Ile171Val
Uncertain significance
Single submitter
WDR48-related disorder
- WDR48 p.Ile21Val Uncertain significance Single submitter
- WDR48 p.Ile431Thr Uncertain significance Single submitter
- WDR48 p.Ile431Val Uncertain significance Single submitter
- WDR48 p.Leu131Pro Uncertain significance Single submitter
- WDR48 p.Leu217Val Uncertain significance Single submitter
- WDR48 p.Leu38Val Uncertain significance Single submitter
- WDR48 p.Leu83Phe Uncertain significance Single submitter
- WDR48 p.Leu83Pro Uncertain significance Single submitter
- WDR48 p.Lys207Arg Uncertain significance Single submitter
- WDR48 p.Ser162Ala Uncertain significance Single submitter
- WDR48 p.Ser58Asn Uncertain significance Single submitter
- WDR48 p.Thr343Arg Uncertain significance Single submitter
- WDR48 p.Thr669Ile Uncertain significance Single submitter
- WDR48 p.Tyr338Asn Uncertain significance Single submitter
- WDR48 p.Val314Gly Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- WDR48 p.Ala154Val Uncertain significance Single submitter
- WDR48 p.Arg22Gln Uncertain significance Single submitter
- WDR48 p.Arg373Lys Uncertain significance Single submitter
- WDR48 p.Asp583Glu Uncertain significance Single submitter
- WDR48 p.Cys244Ser Uncertain significance Single submitter
- WDR48 p.Pro308Leu Uncertain significance Single submitter
All WDR48 variants
Benign 4
- p.Ala35= Multiple submitters
- p.Glu636= Single submitter
- p.Leu83= No assertion criteria WDR48-related disorder
- p.Lys561Arg No assertion criteria WDR48-related disorder
Likely benign 7
- c.48+9G>C Single submitter
- c.1076-6C>T No assertion criteria WDR48-related disorder
- c.269-8T>G No assertion criteria WDR48-related disorder
- c.481+176C>T No assertion criteria WDR48-related disorder
- p.Gln548= No assertion criteria WDR48-related disorder
- p.Glu628= No assertion criteria WDR48-related disorder
- p.Phe517= No assertion criteria WDR48-related disorder
Uncertain significance 36
- p.Ser94Ala Multiple submitters hereditary spastic paraplegia ⚠
- c.897+1G>C Single submitter
- p.Ala154Val Single submitter ⚠
- p.Ala175Val Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg373Lys Single submitter ⚠
- p.Asn167Ser Single submitter ⚠
- p.Asn322His Single submitter ⚠
- p.Asn43Ser Single submitter ⚠
- p.Asn498Ser Single submitter ⚠
- p.Asp583Glu Single submitter ⚠
- p.Cys244Ser Single submitter ⚠
- p.Cys342Gly Single submitter ⚠
- p.Cys350Ser Single submitter ⚠
- p.Cys438Tyr Single submitter ⚠
- p.Glu495Asp Single submitter ⚠
- p.Gly360Ser Single submitter
- p.His74Leu Single submitter ⚠
- p.Ile171Val Single submitter WDR48-related disorder ⚠
- p.Ile21Val Single submitter ⚠
- p.Ile431Thr Single submitter ⚠
- p.Ile431Val Single submitter ⚠
- p.Leu131Pro Single submitter ⚠
- p.Leu217Val Single submitter ⚠
- p.Leu38Val Single submitter ⚠
- p.Leu83Phe Single submitter ⚠
- p.Leu83Pro Single submitter ⚠
- p.Lys207Arg Single submitter ⚠
- p.Pro308Leu Single submitter ⚠
- p.Ser162Ala Single submitter ⚠
- p.Ser58Asn Single submitter ⚠
- p.Thr223Met Single submitter
- p.Thr343Arg Single submitter ⚠
- p.Thr669Ile Single submitter ⚠
- p.Tyr338Asn Single submitter ⚠
- p.Val314Gly Single submitter ⚠