PRKD2 — 95 ClinVar variants
All ClinVar germline PRKD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
5 Benign · 5 Likely benign · 85 Uncertain significance
Full PRKD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKD2 p.Ala148Ser Uncertain significance Single submitter
- PRKD2 p.Ala191Thr Uncertain significance Single submitter
- PRKD2 p.Ala339Thr Uncertain significance Single submitter
- PRKD2 p.Ala358Val Uncertain significance Single submitter
- PRKD2 p.Ala523Val Uncertain significance Single submitter
- PRKD2 p.Ala528Val Uncertain significance Single submitter
- PRKD2 p.Ala778Val Uncertain significance Single submitter
- PRKD2 p.Arg233His Uncertain significance Single submitter
- PRKD2 p.Arg393Trp Uncertain significance Single submitter
- PRKD2 p.Arg498Gln Uncertain significance Single submitter
- PRKD2 p.Arg526Lys Uncertain significance Single submitter
- PRKD2 p.Arg606Gln Uncertain significance Single submitter
- PRKD2 p.Arg700Cys Uncertain significance Single submitter
- PRKD2 p.Arg874His Uncertain significance Single submitter
- PRKD2 p.Asn463Ser Uncertain significance Single submitter
- PRKD2 p.Asn473Ser Uncertain significance Single submitter
- PRKD2 p.Asn763Ser Uncertain significance Single submitter
- PRKD2 p.Asn785Ser Uncertain significance Single submitter
- PRKD2 p.Asp331Asn Uncertain significance Single submitter
- PRKD2 p.Cys466Phe Uncertain significance Single submitter
- PRKD2 p.Gln116Glu Uncertain significance Single submitter
- PRKD2 p.Gln29Pro Uncertain significance Single submitter
- PRKD2 p.Glu221Lys Uncertain significance Single submitter
- PRKD2 p.Glu363Val Uncertain significance Single submitter
- PRKD2 p.Glu366Lys Uncertain significance Single submitter
- PRKD2 p.Glu401Ala Uncertain significance Single submitter
- PRKD2 p.Glu704Lys Uncertain significance Single submitter
- PRKD2 p.Gly16Arg Uncertain significance Single submitter
- PRKD2 p.Gly173Arg Uncertain significance Single submitter
- PRKD2 p.Gly18Val Uncertain significance Single submitter
- PRKD2 p.Gly25Asp Uncertain significance Single submitter
- PRKD2 p.Gly348Ser Uncertain significance Single submitter
- PRKD2 p.Gly370Val Uncertain significance Single submitter
- PRKD2 p.His270Gln Uncertain significance Single submitter
- PRKD2 p.His607Gln Uncertain significance Single submitter
- PRKD2 p.Ile512Met Uncertain significance Single submitter
- PRKD2 p.Ile701Met Uncertain significance Single submitter
- PRKD2 p.Leu530Pro Uncertain significance Single submitter
- PRKD2 p.Leu95Phe Uncertain significance Single submitter
- PRKD2 p.Lys296Arg Uncertain significance Single submitter
- PRKD2 p.Lys80Arg Uncertain significance Single submitter
- PRKD2 p.Met326Thr Uncertain significance Single submitter
- PRKD2 p.Met741Thr Uncertain significance Single submitter
- PRKD2 p.Phe332Cys Uncertain significance Single submitter
- PRKD2 p.Pro138Ser Uncertain significance Single submitter
- PRKD2 p.Pro21Leu Uncertain significance Single submitter
- PRKD2 p.Pro32Ser Uncertain significance Single submitter
- PRKD2 p.Pro36Ser Uncertain significance Single submitter
- PRKD2 p.Pro459Ser Uncertain significance Single submitter
- PRKD2 p.Pro460Leu Uncertain significance Single submitter
- PRKD2 p.Pro486Leu Uncertain significance Single submitter
- PRKD2 p.Pro715Leu Uncertain significance Single submitter
- PRKD2 p.Pro769Arg Uncertain significance Single submitter
- PRKD2 p.Pro845Leu Uncertain significance Single submitter
- PRKD2 p.Pro862Ser Uncertain significance Single submitter
- PRKD2 p.Ser112Pro Uncertain significance Single submitter
- PRKD2 p.Ser145Pro Uncertain significance Single submitter
- PRKD2 p.Ser14Phe Uncertain significance Single submitter
- PRKD2 p.Ser245Leu Uncertain significance Single submitter
- PRKD2 p.Ser30Leu Uncertain significance Single submitter
- PRKD2 p.Ser710Pro Uncertain significance Single submitter
- PRKD2 p.Ser832Gly Uncertain significance Single submitter
- PRKD2 p.Thr227Asn Uncertain significance Single submitter
- PRKD2 p.Thr448Met Uncertain significance Single submitter
- PRKD2 p.Val310Ile Uncertain significance Single submitter
-
PRKD2 p.Arg606Gly
Uncertain significance
No assertion criteria
PRKD2-related disorder
Predictors split 12
The independent predictors disagree with each other — read with care.
- PRKD2 p.Arg645Gln Uncertain significance Single submitter
- PRKD2 p.Asp833Glu Uncertain significance Single submitter
- PRKD2 p.Gln430Leu Uncertain significance Single submitter
- PRKD2 p.Glu83Gln Uncertain significance Single submitter
- PRKD2 p.His830Tyr Uncertain significance Single submitter
- PRKD2 p.Ile781Thr Uncertain significance Single submitter
- PRKD2 p.Pro608Ala Uncertain significance Single submitter
- PRKD2 p.Ser731Thr Uncertain significance Single submitter
- PRKD2 p.Tyr378His Uncertain significance Single submitter
- PRKD2 p.Tyr87Cys Uncertain significance Single submitter
- PRKD2 p.Val163Met Uncertain significance Single submitter
- PRKD2 p.Val388Ala Uncertain significance Single submitter
All PRKD2 variants
Benign 5
- c.667-6C>T Multiple submitters
- p.Cys306= Multiple submitters
- p.Gly493Ala Multiple submitters
- p.Pro608= Multiple submitters
- c.1318-9G>A Single submitter
Likely benign 5
- p.Leu787= Single submitter
- p.Pro442= Single submitter
- p.Val384= Single submitter
- p.Ala191Val No assertion criteria PRKD2-related disorder
- p.Ala494Thr No assertion criteria PRKD2-related disorder
Uncertain significance 85
- c.889+1G>T Single submitter
- p.Ala148Ser Single submitter ⚠
- p.Ala191Thr Single submitter ⚠
- p.Ala339Thr Single submitter ⚠
- p.Ala358Val Single submitter ⚠
- p.Ala523Val Single submitter ⚠
- p.Ala528Val Single submitter ⚠
- p.Ala778Val Single submitter ⚠
- p.Arg233His Single submitter ⚠
- p.Arg393Trp Single submitter ⚠
- p.Arg498Gln Single submitter ⚠
- p.Arg526Lys Single submitter ⚠
- p.Arg606Gln Single submitter ⚠
- p.Arg645Gln Single submitter ⚠
- p.Arg649Cys Single submitter
- p.Arg700Cys Single submitter ⚠
- p.Arg874Cys Single submitter
- p.Arg874His Single submitter ⚠
- p.Asn463Ser Single submitter ⚠
- p.Asn473Ser Single submitter ⚠
- p.Asn763Ser Single submitter ⚠
- p.Asn785Ser Single submitter ⚠
- p.Asp331Asn Single submitter ⚠
- p.Asp833Glu Single submitter ⚠
- p.Cys466Phe Single submitter ⚠
- p.Gln116Glu Single submitter ⚠
- p.Gln29Pro Single submitter ⚠
- p.Gln430Leu Single submitter ⚠
- p.Glu221Lys Single submitter ⚠
- p.Glu363Val Single submitter ⚠
- p.Glu366Lys Single submitter ⚠
- p.Glu401Ala Single submitter ⚠
- p.Glu704Lys Single submitter ⚠
- p.Glu83Gln Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly173Arg Single submitter ⚠
- p.Gly18Val Single submitter ⚠
- p.Gly25Asp Single submitter ⚠
- p.Gly348Ser Single submitter ⚠
- p.Gly370Val Single submitter ⚠
- p.His270Gln Single submitter ⚠
- p.His607Gln Single submitter ⚠
- p.His631Arg Single submitter
- p.His830Tyr Single submitter ⚠
- p.Ile184Val Single submitter
- p.Ile512Met Single submitter ⚠
- p.Ile701Met Single submitter ⚠
- p.Ile781Thr Single submitter ⚠
- p.Leu530Pro Single submitter ⚠
- p.Leu95Phe Single submitter ⚠
- p.Lys296Arg Single submitter ⚠
- p.Lys80Arg Single submitter ⚠
- p.Met326Thr Single submitter ⚠
- p.Met741Thr Single submitter ⚠
- p.Phe332Cys Single submitter ⚠
- p.Phe455Leu Single submitter
- p.Pro138Ser Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Pro459Ser Single submitter ⚠
- p.Pro460Leu Single submitter ⚠
- p.Pro486Leu Single submitter ⚠
- p.Pro608Ala Single submitter ⚠
- p.Pro715Leu Single submitter ⚠
- p.Pro769Arg Single submitter ⚠
- p.Pro845Leu Single submitter ⚠
- p.Pro862Ser Single submitter ⚠
- p.Ser112Pro Single submitter ⚠
- p.Ser145Pro Single submitter ⚠
- p.Ser14Phe Single submitter ⚠
- p.Ser245Leu Single submitter ⚠
- p.Ser30Leu Single submitter ⚠
- p.Ser710Pro Single submitter ⚠
- p.Ser731Thr Single submitter ⚠
- p.Ser832Gly Single submitter ⚠
- p.Thr227Asn Single submitter ⚠
- p.Thr448Met Single submitter ⚠
- p.Tyr378His Single submitter ⚠
- p.Tyr87Cys Single submitter ⚠
- p.Val163Met Single submitter ⚠
- p.Val310Ile Single submitter ⚠
- p.Val388Ala Single submitter ⚠
- p.Arg606Gly No assertion criteria PRKD2-related disorder ⚠
- p.Lys337fs No assertion criteria PRKD2-related disorder