PAK2 — 62 ClinVar variants
All ClinVar germline PAK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 6 Likely benign · 53 Uncertain significance
Full PAK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PAK2 p.Arg350Gly Uncertain significance Single submitter
- PAK2 p.Arg524His Uncertain significance Single submitter
- PAK2 p.Asp148His Uncertain significance Single submitter
- PAK2 p.Asp173Asn Uncertain significance Single submitter
- PAK2 p.Asp173Glu Uncertain significance Single submitter
- PAK2 p.Asp188Asn Uncertain significance Single submitter
- PAK2 p.Asp229Val Uncertain significance Single submitter
- PAK2 p.Cys480Tyr Uncertain significance Single submitter
- PAK2 p.Glu318Asp Uncertain significance Single submitter
- PAK2 p.Gly207Asp Uncertain significance Single submitter
- PAK2 p.Gly430Asp Uncertain significance Single submitter
- PAK2 p.His210Arg Uncertain significance Single submitter
- PAK2 p.His51Arg Uncertain significance Single submitter
-
PAK2 p.Ile111Thr
Uncertain significance
Single submitter
Knobloch syndrome 2
- PAK2 p.Ile22Val Uncertain significance Single submitter
- PAK2 p.Ile472Val Uncertain significance Single submitter
- PAK2 p.Ile74Phe Uncertain significance Single submitter
- PAK2 p.Lys118Thr Uncertain significance Single submitter
- PAK2 p.Lys247Arg Uncertain significance Single submitter
- PAK2 p.Lys423Asn Uncertain significance Single submitter
- PAK2 p.Met233Val Uncertain significance Single submitter
- PAK2 p.Pro145Arg Uncertain significance Single submitter
- PAK2 p.Pro165Arg Uncertain significance Single submitter
- PAK2 p.Pro471Thr Uncertain significance Single submitter
- PAK2 p.Ser24Asn Uncertain significance Single submitter
- PAK2 p.Thr178Ile Uncertain significance Single submitter
- PAK2 p.Thr238Ser Uncertain significance Single submitter
- PAK2 p.Thr265Ile Uncertain significance Single submitter
- PAK2 p.Thr402Ile Uncertain significance Single submitter
- PAK2 p.Thr406Met Uncertain significance Single submitter
- PAK2 p.Val240Met Uncertain significance Single submitter
- PAK2 p.Val269Ile Uncertain significance Single submitter
-
PAK2 p.Val437Ile
Uncertain significance
Single submitter
Knobloch syndrome 2
-
PAK2 p.Gly329Val
Uncertain significance
No assertion criteria
PAK2-related disorder
Predictors split 11
The independent predictors disagree with each other — read with care.
- PAK2 p.Arg104Gln Uncertain significance Single submitter
- PAK2 p.Arg186Leu Uncertain significance Single submitter
- PAK2 p.Asp268Glu Uncertain significance Single submitter
- PAK2 p.Gln101Glu Uncertain significance Single submitter
- PAK2 p.Ile239Leu Uncertain significance Single submitter
- PAK2 p.Lys248Asn Uncertain significance Single submitter
-
PAK2 p.Lys492Asn
Uncertain significance
Single submitter
Knobloch syndrome 2
- PAK2 p.Pro505Arg Uncertain significance Single submitter
- PAK2 p.Thr460Ile Uncertain significance Single submitter
- PAK2 p.Val307Ile Uncertain significance Single submitter
- PAK2 p.Val315Leu Uncertain significance Single submitter
All PAK2 variants
Pathogenic 1
- p.Glu435Lys No assertion criteria Knobloch syndrome
Likely pathogenic 2
- p.Asp425Asn Single submitter Knobloch syndrome 2
- p.Gln279Pro Single submitter Knobloch syndrome 2
Likely benign 6
- c.1154-14G>C Single submitter
- c.773+20T>C Single submitter
- p.Asp3Gly Single submitter
- p.Glu172Asp Single submitter
- p.Pro505= Single submitter
- p.Lys138= No assertion criteria PAK2-related disorder
Uncertain significance 53
- p.Ala347Thr Single submitter
- p.Ala90Gly Single submitter
- p.Arg104Gln Single submitter ⚠
- p.Arg186Leu Single submitter ⚠
- p.Arg350Gly Single submitter ⚠
- p.Arg524His Single submitter ⚠
- p.Asn445Ser Single submitter
- p.Asp148His Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp173Glu Single submitter ⚠
- p.Asp188Asn Single submitter ⚠
- p.Asp229Val Single submitter ⚠
- p.Asp268Glu Single submitter ⚠
- p.Asp484Val Single submitter
- p.Cys480Tyr Single submitter ⚠
- p.Gln101Glu Single submitter ⚠
- p.Glu318Asp Single submitter ⚠
- p.Gly207Asp Single submitter ⚠
- p.Gly430Asp Single submitter ⚠
- p.His210Arg Single submitter ⚠
- p.His51Arg Single submitter ⚠
- p.Ile111Thr Single submitter Knobloch syndrome 2 ⚠
- p.Ile22Val Single submitter ⚠
- p.Ile239Leu Single submitter ⚠
- p.Ile426Met Single submitter
- p.Ile472Val Single submitter ⚠
- p.Ile74Phe Single submitter ⚠
- p.Lys118Thr Single submitter ⚠
- p.Lys128Thr Single submitter
- p.Lys247Arg Single submitter ⚠
- p.Lys248Asn Single submitter ⚠
- p.Lys423Asn Single submitter ⚠
- p.Lys492Asn Single submitter Knobloch syndrome 2 ⚠
- p.Met233Val Single submitter ⚠
- p.Pro145Arg Single submitter ⚠
- p.Pro165Arg Single submitter ⚠
- p.Pro180Ser Single submitter
- p.Pro471Thr Single submitter ⚠
- p.Pro505Arg Single submitter ⚠
- p.Ser24Asn Single submitter ⚠
- p.Thr178Ile Single submitter ⚠
- p.Thr238Ser Single submitter ⚠
- p.Thr265Ile Single submitter ⚠
- p.Thr402Ile Single submitter ⚠
- p.Thr406Met Single submitter ⚠
- p.Thr460Ile Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val269Ile Single submitter ⚠
- p.Val307Ile Single submitter ⚠
- p.Val315Leu Single submitter ⚠
- p.Val437Ile Single submitter Knobloch syndrome 2 ⚠
- c.935+1G>T No assertion criteria PAK2-related disorder
- p.Gly329Val No assertion criteria PAK2-related disorder ⚠