CD48 — 50 ClinVar variants
All ClinVar germline CD48 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
7 Benign · 1 Benign/Likely benign · 4 Likely benign · 38 Uncertain significance
Full CD48 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD48 p.Ala93Thr Uncertain significance Single submitter
- CD48 p.Asn178Lys Uncertain significance Single submitter
- CD48 p.Asp63Asn Uncertain significance Single submitter
- CD48 p.Cys210Ser Uncertain significance Single submitter
- CD48 p.Gln119Lys Uncertain significance Single submitter
- CD48 p.Gln126Arg Uncertain significance Single submitter
- CD48 p.Gln27His Uncertain significance Single submitter
- CD48 p.Glu118Lys Uncertain significance Single submitter
- CD48 p.Ile156Val Uncertain significance Single submitter
- CD48 p.Ile26Leu Uncertain significance Single submitter
- CD48 p.Ile45Thr Uncertain significance Single submitter
- CD48 p.Leu125Gln Uncertain significance Single submitter
- CD48 p.Met109Ile Uncertain significance Single submitter
- CD48 p.Met186Ile Uncertain significance Single submitter
- CD48 p.Pro235Ser Uncertain significance Single submitter
- CD48 p.Ser191Pro Uncertain significance Single submitter
- CD48 p.Thr115Ser Uncertain significance Single submitter
- CD48 p.Thr61Ala Uncertain significance Single submitter
- CD48 p.Trp229Ser Uncertain significance Single submitter
- CD48 p.Val198Ile Uncertain significance Single submitter
- CD48 p.Val223Ala Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CD48 p.Thr216Ile Uncertain significance Multiple submitters
- CD48 p.Arg192Met Uncertain significance Single submitter
- CD48 p.Asn44Ile Uncertain significance Single submitter
- CD48 p.Asp129Gly Uncertain significance Single submitter
- CD48 p.Cys193Tyr Uncertain significance Single submitter
- CD48 p.Glu102Gln Benign Single submitter
- CD48 p.Ile96Met Uncertain significance Single submitter
- CD48 p.Leu21Arg Uncertain significance Single submitter
- CD48 p.Leu241Ser Benign Single submitter
- CD48 p.Lys82Asn Uncertain significance Single submitter
- CD48 p.Ser203Gly Uncertain significance Single submitter
- CD48 p.Ser20Pro Uncertain significance Single submitter
- CD48 p.Ser212Gly Uncertain significance Single submitter
- CD48 p.Ser79Tyr Uncertain significance Single submitter
- CD48 p.Ser97Phe Uncertain significance Single submitter
- CD48 p.Trp69Arg Likely benign Single submitter
- CD48 p.Tyr60Cys Uncertain significance Single submitter
- CD48 p.Val198Leu Uncertain significance Single submitter
- CD48 p.Val35Met Uncertain significance Single submitter
- CD48 p.Val41Met Uncertain significance Single submitter
- CD48 p.Val67Leu Likely benign Single submitter
All CD48 variants
Benign 7
- c.652+73G>T Multiple submitters
- p.Gln90= Multiple submitters
- p.Leu30= Multiple submitters
- p.Glu102Gln Single submitter ⚠
- p.Gly92= Single submitter
- p.Leu16= Single submitter
- p.Leu241Ser Single submitter ⚠
Benign/Likely benign 1
- p.Thr233= Multiple submitters
Likely benign 4
- p.Asp7Glu Single submitter
- p.Thr208= Single submitter
- p.Trp69Arg Single submitter ⚠
- p.Val67Leu Single submitter ⚠
Uncertain significance 38
- p.Thr216Ile Multiple submitters ⚠
- p.Ala93Thr Single submitter ⚠
- p.Arg192Met Single submitter ⚠
- p.Asn178Lys Single submitter ⚠
- p.Asn44Ile Single submitter ⚠
- p.Asp129Gly Single submitter ⚠
- p.Asp63Asn Single submitter ⚠
- p.Cys193Tyr Single submitter ⚠
- p.Cys210Ser Single submitter ⚠
- p.Gln119Lys Single submitter ⚠
- p.Gln126Arg Single submitter ⚠
- p.Gln27His Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile26Leu Single submitter ⚠
- p.Ile45Thr Single submitter ⚠
- p.Ile96Met Single submitter ⚠
- p.Leu125Gln Single submitter ⚠
- p.Leu21Arg Single submitter ⚠
- p.Lys82Asn Single submitter ⚠
- p.Met109Ile Single submitter ⚠
- p.Met186Ile Single submitter ⚠
- p.Pro235Ser Single submitter ⚠
- p.Ser191Pro Single submitter ⚠
- p.Ser203Gly Single submitter ⚠
- p.Ser20Pro Single submitter ⚠
- p.Ser212Gly Single submitter ⚠
- p.Ser79Tyr Single submitter ⚠
- p.Ser97Phe Single submitter ⚠
- p.Thr115Ser Single submitter ⚠
- p.Thr61Ala Single submitter ⚠
- p.Trp229Ser Single submitter ⚠
- p.Tyr60Cys Single submitter ⚠
- p.Val198Ile Single submitter ⚠
- p.Val198Leu Single submitter ⚠
- p.Val223Ala Single submitter ⚠
- p.Val35Met Single submitter ⚠
- p.Val41Met Single submitter ⚠