SRPK1 — 63 ClinVar variants
All ClinVar germline SRPK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Benign · 62 Uncertain significance
Full SRPK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRPK1 p.Arg126Gln Uncertain significance Single submitter
- SRPK1 p.Arg208Ser Uncertain significance Single submitter
- SRPK1 p.Arg229Trp Uncertain significance Single submitter
- SRPK1 p.Arg277Cys Uncertain significance Single submitter
- SRPK1 p.Arg31Gln Uncertain significance Single submitter
- SRPK1 p.Arg345His Uncertain significance Single submitter
- SRPK1 p.Arg84Gln Uncertain significance Single submitter
- SRPK1 p.Asn469Ser Uncertain significance Single submitter
- SRPK1 p.Asn481Asp Uncertain significance Single submitter
- SRPK1 p.Asp135Tyr Uncertain significance Single submitter
- SRPK1 p.Asp150Gly Uncertain significance Single submitter
- SRPK1 p.Asp511Glu Uncertain significance Single submitter
- SRPK1 p.Cys414Ser Uncertain significance Single submitter
- SRPK1 p.Cys63Arg Uncertain significance Single submitter
- SRPK1 p.Cys63Phe Uncertain significance Single submitter
- SRPK1 p.Gln393Arg Uncertain significance Single submitter
- SRPK1 p.Glu622Asp Uncertain significance Single submitter
- SRPK1 p.Gly465Arg Uncertain significance Single submitter
- SRPK1 p.Gly525Arg Uncertain significance Single submitter
- SRPK1 p.His381Tyr Uncertain significance Single submitter
- SRPK1 p.His507Leu Uncertain significance Single submitter
- SRPK1 p.Ile161Val Uncertain significance Single submitter
- SRPK1 p.Ile336Thr Uncertain significance Single submitter
- SRPK1 p.Ile336Val Uncertain significance Single submitter
- SRPK1 p.Ile360Met Uncertain significance Single submitter
- SRPK1 p.Ile360Thr Uncertain significance Single submitter
- SRPK1 p.Ile570Lys Uncertain significance Single submitter
- SRPK1 p.Ile72Thr Uncertain significance Single submitter
- SRPK1 p.Leu184His Uncertain significance Single submitter
- SRPK1 p.Leu467Pro Uncertain significance Single submitter
- SRPK1 p.Leu648Arg Uncertain significance Single submitter
- SRPK1 p.Leu69Phe Uncertain significance Single submitter
- SRPK1 p.Leu69Pro Uncertain significance Single submitter
- SRPK1 p.Lys104Gln Uncertain significance Single submitter
- SRPK1 p.Lys301Glu Uncertain significance Single submitter
- SRPK1 p.Met286Ile Uncertain significance Single submitter
- SRPK1 p.Ser154Pro Uncertain significance Single submitter
- SRPK1 p.Ser26Phe Uncertain significance Single submitter
- SRPK1 p.Ser396Asn Uncertain significance Single submitter
- SRPK1 p.Thr474Met Uncertain significance Single submitter
- SRPK1 p.Tyr549Cys Uncertain significance Single submitter
- SRPK1 p.Val480Ile Uncertain significance Single submitter
- SRPK1 p.Val504Met Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- SRPK1 p.Ala475Val Uncertain significance Single submitter
- SRPK1 p.Arg285Gln Uncertain significance Single submitter
- SRPK1 p.Arg649Trp Uncertain significance Single submitter
- SRPK1 p.Asn180Ser Uncertain significance Single submitter
- SRPK1 p.Asp135Glu Uncertain significance Single submitter
- SRPK1 p.Asp61Asn Uncertain significance Single submitter
- SRPK1 p.Asp74Glu Uncertain significance Single submitter
- SRPK1 p.Gln9His Uncertain significance Single submitter
- SRPK1 p.Glu646Lys Uncertain significance Single submitter
- SRPK1 p.Gly50Glu Uncertain significance Single submitter
- SRPK1 p.His505Gln Uncertain significance Single submitter
- SRPK1 p.Ile214Val Uncertain significance Single submitter
- SRPK1 p.Lys103Arg Uncertain significance Single submitter
- SRPK1 p.Lys492Asn Uncertain significance Single submitter
- SRPK1 p.Phe609Ser Uncertain significance Single submitter
- SRPK1 p.Pro59Arg Uncertain significance Single submitter
- SRPK1 p.Ser655Phe Uncertain significance Single submitter
- SRPK1 p.Thr601Met Uncertain significance Single submitter
All SRPK1 variants
Benign 1
- p.Arg649Gln Single submitter
Uncertain significance 62
- p.Ala475Val Single submitter ⚠
- p.Arg126Gln Single submitter ⚠
- p.Arg208Ser Single submitter ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg345His Single submitter ⚠
- p.Arg578His Single submitter
- p.Arg649Trp Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn180Ser Single submitter ⚠
- p.Asn469Ser Single submitter ⚠
- p.Asn481Asp Single submitter ⚠
- p.Asp135Glu Single submitter ⚠
- p.Asp135Tyr Single submitter ⚠
- p.Asp150Gly Single submitter ⚠
- p.Asp511Glu Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Asp74Glu Single submitter ⚠
- p.Cys414Ser Single submitter ⚠
- p.Cys63Arg Single submitter ⚠
- p.Cys63Phe Single submitter ⚠
- p.Gln393Arg Single submitter ⚠
- p.Gln9His Single submitter ⚠
- p.Glu622Asp Single submitter ⚠
- p.Glu646Lys Single submitter ⚠
- p.Gly465Arg Single submitter ⚠
- p.Gly50Glu Single submitter ⚠
- p.Gly525Arg Single submitter ⚠
- p.His381Tyr Single submitter ⚠
- p.His505Gln Single submitter ⚠
- p.His507Leu Single submitter ⚠
- p.Ile161Val Single submitter ⚠
- p.Ile214Val Single submitter ⚠
- p.Ile336Thr Single submitter ⚠
- p.Ile336Val Single submitter ⚠
- p.Ile360Met Single submitter ⚠
- p.Ile360Thr Single submitter ⚠
- p.Ile570Lys Single submitter ⚠
- p.Ile72Thr Single submitter ⚠
- p.Leu184His Single submitter ⚠
- p.Leu467Pro Single submitter ⚠
- p.Leu648Arg Single submitter ⚠
- p.Leu69Phe Single submitter ⚠
- p.Leu69Pro Single submitter ⚠
- p.Lys103Arg Single submitter ⚠
- p.Lys104Gln Single submitter ⚠
- p.Lys301Glu Single submitter ⚠
- p.Lys492Asn Single submitter ⚠
- p.Met286Ile Single submitter ⚠
- p.Phe609Ser Single submitter ⚠
- p.Pro59Arg Single submitter ⚠
- p.Ser154Pro Single submitter ⚠
- p.Ser26Phe Single submitter ⚠
- p.Ser396Asn Single submitter ⚠
- p.Ser655Phe Single submitter ⚠
- p.Thr474Met Single submitter ⚠
- p.Thr601Met Single submitter ⚠
- p.Tyr549Cys Single submitter ⚠
- p.Val480Ile Single submitter ⚠
- p.Val504Met Single submitter ⚠