SRPK2 — 80 ClinVar variants
All ClinVar germline SRPK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
5 Benign · 14 Likely benign · 61 Uncertain significance
Full SRPK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRPK2 p.Lys270Gln Uncertain significance Multiple submitters
- SRPK2 p.Ala382Glu Uncertain significance Single submitter
- SRPK2 p.Ala72Val Uncertain significance Single submitter
- SRPK2 p.Arg199Gly Uncertain significance Single submitter
- SRPK2 p.Arg199Leu Uncertain significance Single submitter
- SRPK2 p.Arg91Trp Uncertain significance Single submitter
- SRPK2 p.Asn152Lys Uncertain significance Single submitter
- SRPK2 p.Asp154Asn Uncertain significance Single submitter
- SRPK2 p.Asp378Val Uncertain significance Single submitter
- SRPK2 p.Gln359Arg Uncertain significance Single submitter
- SRPK2 p.Gln379Arg Uncertain significance Single submitter
- SRPK2 p.Glu246Lys Uncertain significance Single submitter
- SRPK2 p.Glu342Asp Uncertain significance Single submitter
- SRPK2 p.Glu343Ala Uncertain significance Single submitter
- SRPK2 p.Glu374Ala Uncertain significance Single submitter
- SRPK2 p.Glu412Asp Uncertain significance Single submitter
- SRPK2 p.Glu416Asp Uncertain significance Single submitter
- SRPK2 p.Glu448Gly Uncertain significance Single submitter
- SRPK2 p.Glu458Gly Uncertain significance Single submitter
- SRPK2 p.His664Arg Uncertain significance Single submitter
- SRPK2 p.Ile160Val Uncertain significance Single submitter
- SRPK2 p.Ile384Val Uncertain significance Single submitter
- SRPK2 p.Leu140Val Uncertain significance Single submitter
- SRPK2 p.Leu33Ile Uncertain significance Single submitter
- SRPK2 p.Leu341Ile Uncertain significance Single submitter
- SRPK2 p.Leu488Phe Uncertain significance Single submitter
- SRPK2 p.Phe464Leu Uncertain significance Single submitter
- SRPK2 p.Pro25Leu Uncertain significance Single submitter
- SRPK2 p.Pro386Ser Uncertain significance Single submitter
- SRPK2 p.Pro45Leu Uncertain significance Single submitter
- SRPK2 p.Pro513Leu Uncertain significance Single submitter
- SRPK2 p.Pro54Leu Uncertain significance Single submitter
- SRPK2 p.Pro682Leu Uncertain significance Single submitter
- SRPK2 p.Pro695Ser Uncertain significance Single submitter
- SRPK2 p.Ser434Asn Uncertain significance Single submitter
- SRPK2 p.Ser497Phe Uncertain significance Single submitter
- SRPK2 p.Thr349Ile Uncertain significance Single submitter
- SRPK2 p.Thr437Ala Uncertain significance Single submitter
- SRPK2 p.Thr437Pro Uncertain significance Single submitter
- SRPK2 p.Thr581Met Uncertain significance Single submitter
- SRPK2 p.Tyr438Cys Uncertain significance Single submitter
- SRPK2 p.Tyr442Cys Uncertain significance Single submitter
- SRPK2 p.Val334Gly Uncertain significance Single submitter
- SRPK2 p.Val548Leu Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- SRPK2 p.Arg310Gly Uncertain significance Single submitter
- SRPK2 p.Arg530Trp Uncertain significance Single submitter
- SRPK2 p.Arg632Gln Uncertain significance Single submitter
- SRPK2 p.Arg91Gln Uncertain significance Single submitter
- SRPK2 p.Asn636His Uncertain significance Single submitter
- SRPK2 p.Asp414His Uncertain significance Single submitter
- SRPK2 p.Asp73Glu Uncertain significance Single submitter
- SRPK2 p.Gln287His Uncertain significance Single submitter
- SRPK2 p.Glu305Lys Uncertain significance Single submitter
- SRPK2 p.Gly114Glu Uncertain significance Single submitter
- SRPK2 p.Pro256Ala Uncertain significance Single submitter
- SRPK2 p.Pro37Arg Uncertain significance Single submitter
- SRPK2 p.Ser687Leu Uncertain significance Single submitter
All SRPK2 variants
Benign 5
Likely benign 14
- c.515-4C>G Single submitter
- p.Ala321Val Single submitter
- p.Arg453Gln Single submitter
- p.Glu417Asp Single submitter
- p.Ile317Val Single submitter
- p.Ile370Thr Single submitter
- p.Leu626= Single submitter
- p.Phe177= Single submitter
- p.Pro47= Single submitter
- p.Thr130= Single submitter
- p.Ala576= No assertion criteria SRPK2-related disorder
- p.Ala582= No assertion criteria SRPK2-related disorder
- p.Arg15= No assertion criteria SRPK2-related disorder
- p.Thr581= No assertion criteria SRPK2-related disorder
Uncertain significance 61
- p.Lys270Gln Multiple submitters ⚠
- c.514+1G>A Single submitter
- p.Ala382Glu Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg199Gly Single submitter ⚠
- p.Arg199Leu Single submitter ⚠
- p.Arg310Gly Single submitter ⚠
- p.Arg530Trp Single submitter ⚠
- p.Arg632Gln Single submitter ⚠
- p.Arg91Gln Single submitter ⚠
- p.Arg91Trp Single submitter ⚠
- p.Asn152Lys Single submitter ⚠
- p.Asn636His Single submitter ⚠
- p.Asp154Asn Single submitter ⚠
- p.Asp378Val Single submitter ⚠
- p.Asp414His Single submitter ⚠
- p.Asp672His Single submitter
- p.Asp73Glu Single submitter ⚠
- p.Gln287His Single submitter ⚠
- p.Gln359Arg Single submitter ⚠
- p.Gln379Arg Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu342Asp Single submitter ⚠
- p.Glu343Ala Single submitter ⚠
- p.Glu374Ala Single submitter ⚠
- p.Glu412Asp Single submitter ⚠
- p.Glu416Asp Single submitter ⚠
- p.Glu448Gly Single submitter ⚠
- p.Glu458Gly Single submitter ⚠
- p.Gly114Glu Single submitter ⚠
- p.His664Arg Single submitter ⚠
- p.Ile160Thr Single submitter
- p.Ile160Val Single submitter ⚠
- p.Ile384Val Single submitter ⚠
- p.Leu140Val Single submitter ⚠
- p.Leu212Ter Single submitter
- p.Leu33Ile Single submitter ⚠
- p.Leu341Ile Single submitter ⚠
- p.Leu488Phe Single submitter ⚠
- p.Phe464Leu Single submitter ⚠
- p.Pro256Ala Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro37Arg Single submitter ⚠
- p.Pro386Ser Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Pro513Leu Single submitter ⚠
- p.Pro54Leu Single submitter ⚠
- p.Pro682Leu Single submitter ⚠
- p.Pro695Ser Single submitter ⚠
- p.Ser434Asn Single submitter ⚠
- p.Ser497Phe Single submitter ⚠
- p.Ser687Leu Single submitter ⚠
- p.Thr349Ile Single submitter ⚠
- p.Thr437Ala Single submitter ⚠
- p.Thr437Pro Single submitter ⚠
- p.Thr581Met Single submitter ⚠
- p.Tyr438Cys Single submitter ⚠
- p.Tyr442Cys Single submitter ⚠
- p.Val334Gly Single submitter ⚠
- p.Val548Leu Single submitter ⚠