CPLANE2 — 58 ClinVar variants
All ClinVar germline CPLANE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
4 Likely benign · 54 Uncertain significance
Full CPLANE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPLANE2 p.Arg188Gln Uncertain significance Single submitter
- CPLANE2 p.Arg203Gln Uncertain significance Single submitter
- CPLANE2 p.Arg210Gln Uncertain significance Single submitter
- CPLANE2 p.Arg216His Uncertain significance Single submitter
- CPLANE2 p.Arg216Ser Uncertain significance Single submitter
- CPLANE2 p.Arg221Trp Uncertain significance Single submitter
- CPLANE2 p.Arg42Gln Uncertain significance Single submitter
- CPLANE2 p.Asn135Ser Uncertain significance Single submitter
- CPLANE2 p.Asn232Ser Uncertain significance Single submitter
- CPLANE2 p.Asn251His Uncertain significance Single submitter
- CPLANE2 p.Gly223Glu Uncertain significance Single submitter
- CPLANE2 p.Gly67Val Uncertain significance Single submitter
- CPLANE2 p.His16Gln Uncertain significance Single submitter
- CPLANE2 p.His240Tyr Uncertain significance Single submitter
- CPLANE2 p.Ile51Leu Uncertain significance Single submitter
- CPLANE2 p.Met171Leu Uncertain significance Single submitter
- CPLANE2 p.Met181Thr Uncertain significance Single submitter
- CPLANE2 p.Pro208Leu Uncertain significance Single submitter
- CPLANE2 p.Thr183Met Uncertain significance Single submitter
- CPLANE2 p.Thr69Met Uncertain significance Single submitter
- CPLANE2 p.Trp197Arg Uncertain significance Single submitter
- CPLANE2 p.Val108Ile Uncertain significance Single submitter
- CPLANE2 p.Val108Leu Uncertain significance Single submitter
- CPLANE2 p.Val172Phe Uncertain significance Single submitter
- CPLANE2 p.Val185Met Uncertain significance Single submitter
- CPLANE2 p.Val49Leu Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- CPLANE2 p.Arg106Cys Uncertain significance Single submitter
- CPLANE2 p.Arg106His Uncertain significance Single submitter
- CPLANE2 p.Arg111Cys Uncertain significance Single submitter
- CPLANE2 p.Arg148Cys Uncertain significance Single submitter
- CPLANE2 p.Arg160Cys Uncertain significance Single submitter
- CPLANE2 p.Arg160His Uncertain significance Single submitter
- CPLANE2 p.Arg188Trp Uncertain significance Single submitter
- CPLANE2 p.Arg203Trp Uncertain significance Single submitter
- CPLANE2 p.Arg211Gln Uncertain significance Single submitter
- CPLANE2 p.Arg216Cys Uncertain significance Single submitter
- CPLANE2 p.Arg34Leu Uncertain significance Single submitter
- CPLANE2 p.Arg34Trp Uncertain significance Single submitter
- CPLANE2 p.Arg42Trp Uncertain significance Single submitter
- CPLANE2 p.Asp126Asn Uncertain significance Single submitter
- CPLANE2 p.Asp126Tyr Uncertain significance Single submitter
- CPLANE2 p.Asp242Glu Uncertain significance Single submitter
- CPLANE2 p.Gly163Val Uncertain significance Single submitter
- CPLANE2 p.Gly220Arg Uncertain significance Single submitter
- CPLANE2 p.Gly65Ser Uncertain significance Single submitter
- CPLANE2 p.Gly8Asp Uncertain significance Single submitter
- CPLANE2 p.Ile51Thr Uncertain significance Single submitter
- CPLANE2 p.Lys74Thr Uncertain significance Single submitter
- CPLANE2 p.Phe141Leu Uncertain significance Single submitter
- CPLANE2 p.Pro13Gln Uncertain significance Single submitter
- CPLANE2 p.Pro166Ser Uncertain significance Single submitter
- CPLANE2 p.Thr136Ile Uncertain significance Single submitter
- CPLANE2 p.Thr93Ile Uncertain significance Single submitter
- CPLANE2 p.Val169Ile Likely benign Single submitter
- CPLANE2 p.Val227Ile Likely benign Single submitter
- CPLANE2 p.Val94Met Uncertain significance Single submitter
All CPLANE2 variants
Likely benign 4
- p.Asn251Ser Single submitter
- p.Thr88= Single submitter
- p.Val169Ile Single submitter ⚠
- p.Val227Ile Single submitter ⚠
Uncertain significance 54
- p.Arg106Cys Single submitter ⚠
- p.Arg106His Single submitter ⚠
- p.Arg111Cys Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg160Cys Single submitter ⚠
- p.Arg160His Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg188Trp Single submitter ⚠
- p.Arg203Gln Single submitter ⚠
- p.Arg203Trp Single submitter ⚠
- p.Arg210Gln Single submitter ⚠
- p.Arg211Gln Single submitter ⚠
- p.Arg216Cys Single submitter ⚠
- p.Arg216His Single submitter ⚠
- p.Arg216Ser Single submitter ⚠
- p.Arg221Trp Single submitter ⚠
- p.Arg34Leu Single submitter ⚠
- p.Arg34Trp Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Asn135Ser Single submitter ⚠
- p.Asn232Ser Single submitter ⚠
- p.Asn251His Single submitter ⚠
- p.Asp126Asn Single submitter ⚠
- p.Asp126Tyr Single submitter ⚠
- p.Asp242Glu Single submitter ⚠
- p.Gly163Val Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly223Glu Single submitter ⚠
- p.Gly65Ser Single submitter ⚠
- p.Gly67Val Single submitter ⚠
- p.Gly8Asp Single submitter ⚠
- p.His16Gln Single submitter ⚠
- p.His240Tyr Single submitter ⚠
- p.Ile51Leu Single submitter ⚠
- p.Ile51Thr Single submitter ⚠
- p.Lys74Thr Single submitter ⚠
- p.Met171Leu Single submitter ⚠
- p.Met181Thr Single submitter ⚠
- p.Phe141Leu Single submitter ⚠
- p.Pro13Gln Single submitter ⚠
- p.Pro166Ser Single submitter ⚠
- p.Pro208Leu Single submitter ⚠
- p.Thr136Ile Single submitter ⚠
- p.Thr183Met Single submitter ⚠
- p.Thr69Met Single submitter ⚠
- p.Thr93Ile Single submitter ⚠
- p.Trp197Arg Single submitter ⚠
- p.Val108Ile Single submitter ⚠
- p.Val108Leu Single submitter ⚠
- p.Val172Phe Single submitter ⚠
- p.Val185Met Single submitter ⚠
- p.Val49Leu Single submitter ⚠
- p.Val94Met Single submitter ⚠