PAK3 — 243 ClinVar variants
All ClinVar germline PAK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
8 Pathogenic · 3 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 5 Conflicting · 29 Benign · 10 Benign/Likely benign · 37 Likely benign · 129 Uncertain significance
Full PAK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PAK3 p.Ala490Thr Uncertain significance Multiple submitters
- PAK3 p.Asn185Thr Uncertain significance Multiple submitters
-
PAK3 p.Gly335Asp
Uncertain significance
Multiple submitters
intellectual disability
-
PAK3 c.277-1190C>G
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 c.277-1206A>G Uncertain significance Single submitter
- PAK3 c.277-1212A>T Uncertain significance Single submitter
- PAK3 p.Ala147Thr Uncertain significance Single submitter
-
PAK3 p.Ala147Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Ala27Gly Uncertain significance Single submitter
- PAK3 p.Ala295Val Uncertain significance Single submitter
- PAK3 p.Ala410Thr Uncertain significance Single submitter
- PAK3 p.Ala470Thr Uncertain significance Single submitter
- PAK3 p.Ala475Thr Uncertain significance Single submitter
-
PAK3 p.Ala534Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Ala534Thr Uncertain significance Single submitter
- PAK3 p.Arg17Lys Uncertain significance Single submitter
- PAK3 p.Arg23Gln Uncertain significance Single submitter
- PAK3 p.Arg386Gly Uncertain significance Single submitter
- PAK3 p.Arg507Gln Uncertain significance Single submitter
- PAK3 p.Asn185Ser Uncertain significance Single submitter
- PAK3 p.Asn19Ser Uncertain significance Single submitter
- PAK3 p.Asn392Thr Uncertain significance Single submitter
- PAK3 p.Asn7Lys Uncertain significance Single submitter
- PAK3 p.Asp263Tyr Uncertain significance Single submitter
-
PAK3 p.Asp330Val
Uncertain significance
Single submitter
intellectual disability, X-linked 30
-
PAK3 p.Asp360His
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Asp387Gly Uncertain significance Single submitter
- PAK3 p.Asp6Gly Uncertain significance Single submitter
-
PAK3 p.Gln483Arg
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Glu454Lys Uncertain significance Single submitter
-
PAK3 p.Gly262Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Gly275Arg Uncertain significance Single submitter
- PAK3 p.Gly275Asp Uncertain significance Single submitter
- PAK3 p.Gly277Ala Uncertain significance Single submitter
-
PAK3 p.Gly277Trp
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Gly458Ala Uncertain significance Single submitter
- PAK3 p.His148Gln Uncertain significance Single submitter
- PAK3 p.His516Asn Uncertain significance Single submitter
-
PAK3 p.His81Pro
Uncertain significance
Single submitter
intellectual disability, X-linked 30
-
PAK3 p.Ile151Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Ile151Thr Uncertain significance Single submitter
- PAK3 p.Ile288Thr Uncertain significance Single submitter
-
PAK3 p.Ile288Val
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Ile310Thr Uncertain significance Single submitter
- PAK3 p.Ile388Met Uncertain significance Single submitter
-
PAK3 p.Leu233Phe
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Leu28Phe Uncertain significance Single submitter
-
PAK3 p.Leu463Phe
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Leu519Phe Uncertain significance Single submitter
-
PAK3 p.Lys245Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAK3 p.Lys389Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAK3 p.Met422Ile
Uncertain significance
Single submitter
intellectual disability, X-linked 30
-
PAK3 p.Phe406Leu
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Phe76Leu Uncertain significance Single submitter
-
PAK3 p.Pro164Ser
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Pro165Ala Uncertain significance Single submitter
- PAK3 p.Pro165Leu Uncertain significance Single submitter
- PAK3 p.Pro189Leu Uncertain significance Single submitter
- PAK3 p.Pro34Leu Uncertain significance Single submitter
-
PAK3 p.Pro441Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAK3 p.Pro441Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Pro460His Uncertain significance Single submitter
- PAK3 p.Ser171Pro Uncertain significance Single submitter
-
PAK3 p.Ser209Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAK3 p.Ser20Thr
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Ser349Phe Uncertain significance Single submitter
- PAK3 p.Thr221Pro Uncertain significance Single submitter
- PAK3 p.Thr355Lys Uncertain significance Single submitter
- PAK3 p.Thr425Ala Uncertain significance Single submitter
- PAK3 p.Thr529Ala Uncertain significance Single submitter
- PAK3 p.Tyr439Cys Uncertain significance Single submitter
- PAK3 p.Val122Ile Uncertain significance Single submitter
- PAK3 p.Val206Met Uncertain significance Single submitter
- PAK3 p.Val282Ala Uncertain significance Single submitter
-
PAK3 p.Val423Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Val443Phe Uncertain significance Single submitter
-
PAK3 p.Val491Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAK3 p.Gly396Arg
Uncertain significance
No assertion criteria
PAK3-related disorder
Predictors split 20
The independent predictors disagree with each other — read with care.
-
PAK3 p.Arg493Cys
Uncertain significance
Multiple submitters
intellectual disability, X-linked 30
- PAK3 p.Arg498Cys Uncertain significance Multiple submitters
-
PAK3 p.Ala289Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAK3 p.Arg100Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAK3 p.Arg498His
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Arg506Thr Uncertain significance Single submitter
- PAK3 p.Asp127His Uncertain significance Single submitter
-
PAK3 p.Asp127Tyr
Uncertain significance
Single submitter
intellectual disability
- PAK3 p.Asp238Ala Uncertain significance Single submitter
-
PAK3 p.Asp330Asn
Uncertain significance
Single submitter
intellectual disability, X-linked 30
-
PAK3 p.Gln135Arg
Uncertain significance
Single submitter
PAK3-related disorder
- PAK3 p.Gln298Lys Uncertain significance Single submitter
-
PAK3 p.Glu9Lys
Uncertain significance
Single submitter
intellectual disability, X-linked 30
-
PAK3 p.His78Arg
Uncertain significance
Single submitter
intellectual disability, X-linked 30
- PAK3 p.Lys243Glu Uncertain significance Single submitter
-
PAK3 p.Lys267Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PAK3 p.Pro11Ser Uncertain significance Single submitter
- PAK3 p.Ser139Arg Uncertain significance Single submitter
-
PAK3 p.Ser231Cys
Conflicting
Single submitter
Inborn genetic diseases
-
PAK3 p.Tyr126Cys
Uncertain significance
Single submitter
Inborn genetic diseases
All PAK3 variants
Pathogenic 8
- p.Ala365Glu Single submitter intellectual disability, X-linked 30
- p.Arg67Cys Single submitter intellectual disability, X-linked 30
- p.Glu179Ter Single submitter Inborn genetic diseases
- p.Pro164fs Single submitter
- p.Ser244fs Single submitter
- p.Val326Leu Single submitter microcephaly
- p.Arg419Ter No assertion criteria intellectual disability, X-linked 30
- p.Trp446Ser No assertion criteria intellectual disability, X-linked 30
Pathogenic/Likely pathogenic 3
- p.Arg100Ter Multiple submitters PAK3-related disorder
- p.Arg436Ter Multiple submitters Inborn genetic diseases
- p.Glu356Ter Multiple submitters intellectual disability, X-linked 30
Likely pathogenic 22
- c.1110+1G>T Single submitter intellectual disability, X-linked 30
- c.176-1G>A Single submitter intellectual disability, X-linked 30
- c.276+1G>T Single submitter intellectual disability, X-linked 30
- c.276+5G>A Single submitter History of neurodevelopmental disorder
- c.431-1G>A Single submitter PAK3-related disorder
- c.600+1G>C Single submitter intellectual disability, X-linked 30
- c.766+3G>T Single submitter intellectual disability, X-linked 30
- p.Arg487fs Single submitter PAK3-related disorder
- p.Arg507Ter Single submitter
- p.Asp387Asn Single submitter
- p.Gln135Ter Single submitter intellectual disability, X-linked 30
- p.Glu250Ter Single submitter intellectual disability, X-linked 30
- p.Leu395fs Single submitter intellectual disability, X-linked 30
- p.Lys265_Lys266delinsAsnTer Single submitter
- p.Trp428Arg Single submitter intellectual disability, X-linked 30
- p.Tyr427His Single submitter intellectual disability
- p.Val206fs Single submitter
- p.Val294Met Single submitter
- p.Val423Glu Single submitter intellectual disability, X-linked 30
- p.Cys371Tyr No assertion criteria intellectual disability, X-linked 30
- p.Gly424Arg No assertion criteria intellectual disability
- p.Leu468Arg No assertion criteria
Conflicting classifications of pathogenicity 5
- c.276+4A>G Single submitter intellectual disability
- p.Asp175del Single submitter Inborn genetic diseases
- p.Gly149= Single submitter intellectual disability, X-linked 30
- p.Ser231Cys Single submitter Inborn genetic diseases ⚠
- p.Ser527Gly Single submitter intellectual disability, X-linked 30
Benign 29
- c.1545+41C>G Multiple submitters
- c.1545+95G>A Multiple submitters
- c.1546-84C>A Multiple submitters
- c.431-26A>G Multiple submitters intellectual disability, X-linked 30
- c.431-59G>A Multiple submitters
- c.468+142T>C Multiple submitters
- c.468+254A>G Multiple submitters
- c.601-10G>T Multiple submitters
- p.Asp3= Multiple submitters intellectual disability, X-linked 30
- p.Leu395= Multiple submitters Inborn genetic diseases
- c.1545+169C>T Single submitter
- c.175+254A>T Single submitter
- c.431-284T>A Single submitter
- c.469-158G>T Single submitter
- c.469-259G>A Single submitter
- c.830+239T>G Single submitter
- c.830+248T>C Single submitter
- c.879+12C>T Single submitter
- c.879+13G>A Single submitter
- c.880-164dup Single submitter
- c.992+15T>G Single submitter
- c.993-20C>A Single submitter
- c.-15T>C Single submitter intellectual disability, X-linked 30
- c.-63A>G Single submitter intellectual disability, X-linked 30
- c.*463T>C Single submitter intellectual disability, X-linked 30
- p.Leu110= Single submitter
- p.Leu166= Single submitter
- p.Pro12= Single submitter
- p.Ser142= Single submitter
Benign/Likely benign 10
- c.276+2659T>C Multiple submitters Inborn genetic diseases
- p.Ala161= Multiple submitters Inborn genetic diseases
- p.Ala410= Multiple submitters
- p.Arg506= Multiple submitters intellectual disability, X-linked 30
- p.Glu177= Multiple submitters History of neurodevelopmental disorder
- p.Gly4Ser Multiple submitters Inborn genetic diseases
- p.Lys306= Multiple submitters intellectual disability, X-linked 30
- p.Pro222Gln Multiple submitters intellectual disability, X-linked 30
- p.Ser224Tyr Multiple submitters Inborn genetic diseases
- p.Tyr283= Multiple submitters
Likely benign 37
- c.277-1193G>A Multiple submitters
- c.831-13T>C Multiple submitters
- p.Asn236Ser Multiple submitters Inborn genetic diseases
- p.Pro441= Multiple submitters
- p.Ser156= Multiple submitters
- p.Thr79= Multiple submitters Inborn genetic diseases
- p.Thr88= Multiple submitters Inborn genetic diseases
- p.Val456= Multiple submitters
- c.1110+16A>T Single submitter
- c.1111-10G>A Single submitter
- c.1408-14A>G Single submitter
- c.176-16A>C Single submitter
- c.277-1159C>T Single submitter
- c.430+17G>A Single submitter
- c.431-20T>A Single submitter
- c.469-15T>C Single submitter
- c.601-13T>C Single submitter
- c.601-9T>G Single submitter
- c.767-12_767-9del Single submitter
- p.Arg239= Single submitter Inborn genetic diseases
- p.Arg419= Single submitter
- p.Asn322His Single submitter
- p.Asp183= Single submitter
- p.Gln135= Single submitter
- p.Glu182Asp Single submitter
- p.Gly348= Single submitter
- p.Leu378= Single submitter
- p.Pro189= Single submitter
- p.Pro414= Single submitter
- p.Pro485= Single submitter
- p.Ser156Leu Single submitter
- p.Ser260= Single submitter Inborn genetic diseases
- p.Thr104= Single submitter
- p.Thr290= Single submitter
- p.Val259= Single submitter
- p.Val367= Single submitter Inborn genetic diseases
- c.601-3dup No assertion criteria PAK3-related disorder
Uncertain significance 129
- c.830+6T>A Multiple submitters Inborn genetic diseases
- p.Ala490Thr Multiple submitters ⚠
- p.Arg493Cys Multiple submitters intellectual disability, X-linked 30 ⚠
- p.Arg498Cys Multiple submitters ⚠
- p.Asn185Thr Multiple submitters ⚠
- p.Glu182del Multiple submitters intellectual disability, X-linked 30
- p.Gly262= Multiple submitters intellectual disability, X-linked 30
- p.Gly335Asp Multiple submitters intellectual disability ⚠
- c.1110+5G>A Single submitter
- c.1210+5G>C Single submitter
- c.1407+3A>T Single submitter
- c.1408-1G>C Single submitter
- c.175+4566T>G Single submitter intellectual disability, X-linked 30
- c.276+2678G>C Single submitter
- c.276+2679A>T Single submitter
- c.276+2683C>G Single submitter intellectual disability
- c.276+2690dup Single submitter
- c.276+2697G>T Single submitter
- c.276+67C>T Single submitter intellectual disability
- c.277-1167G>A Single submitter
- c.277-1190C>G Single submitter Inborn genetic diseases ⚠
- c.277-1206A>G Single submitter ⚠
- c.277-1212A>T Single submitter ⚠
- c.277-4A>G Single submitter
- c.-160G>A Single submitter intellectual disability, X-linked 30
- c.-274G>C Single submitter intellectual disability, X-linked 30
- c.-30G>C Single submitter intellectual disability, X-linked 30
- c.-470G>T Single submitter intellectual disability, X-linked 30
- c.*249G>T Single submitter intellectual disability, X-linked 30
- c.*83C>T Single submitter intellectual disability, X-linked 30
- p.Ala147Thr Single submitter ⚠
- p.Ala147Val Single submitter Inborn genetic diseases ⚠
- p.Ala192Thr Single submitter
- p.Ala27Gly Single submitter ⚠
- p.Ala289Glu Single submitter Inborn genetic diseases ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala410Thr Single submitter ⚠
- p.Ala470Thr Single submitter ⚠
- p.Ala475Thr Single submitter ⚠
- p.Ala534Ser Single submitter Inborn genetic diseases ⚠
- p.Ala534Thr Single submitter ⚠
- p.Ala99Thr Single submitter
- p.Arg100Gln Single submitter Inborn genetic diseases ⚠
- p.Arg17Lys Single submitter ⚠
- p.Arg204His Single submitter intellectual disability, X-linked 30
- p.Arg23Gln Single submitter ⚠
- p.Arg386Gly Single submitter ⚠
- p.Arg498His Single submitter Inborn genetic diseases ⚠
- p.Arg506Thr Single submitter ⚠
- p.Arg507Gln Single submitter ⚠
- p.Asn185Ser Single submitter ⚠
- p.Asn19Ser Single submitter ⚠
- p.Asn392Thr Single submitter ⚠
- p.Asn7Lys Single submitter ⚠
- p.Asp127His Single submitter ⚠
- p.Asp127Tyr Single submitter intellectual disability ⚠
- p.Asp238Ala Single submitter ⚠
- p.Asp263Tyr Single submitter ⚠
- p.Asp330Asn Single submitter intellectual disability, X-linked 30 ⚠
- p.Asp330Val Single submitter intellectual disability, X-linked 30 ⚠
- p.Asp360His Single submitter Inborn genetic diseases ⚠
- p.Asp387Gly Single submitter ⚠
- p.Asp6Gly Single submitter ⚠
- p.Gln103Lys Single submitter Inborn genetic diseases
- p.Gln135Arg Single submitter PAK3-related disorder ⚠
- p.Gln298Lys Single submitter ⚠
- p.Gln483Arg Single submitter intellectual disability, X-linked 30 ⚠
- p.Glu181_Glu182del Single submitter
- p.Glu454Lys Single submitter ⚠
- p.Glu9Lys Single submitter intellectual disability, X-linked 30 ⚠
- p.Gly262Trp Single submitter Inborn genetic diseases ⚠
- p.Gly275Arg Single submitter ⚠
- p.Gly275Asp Single submitter ⚠
- p.Gly277Ala Single submitter ⚠
- p.Gly277Trp Single submitter intellectual disability, X-linked 30 ⚠
- p.Gly458Ala Single submitter ⚠
- p.His148Gln Single submitter ⚠
- p.His197Arg Single submitter
- p.His516Asn Single submitter ⚠
- p.His78Arg Single submitter intellectual disability, X-linked 30 ⚠
- p.His81Pro Single submitter intellectual disability, X-linked 30 ⚠
- p.Ile151Met Single submitter Inborn genetic diseases ⚠
- p.Ile151Thr Single submitter ⚠
- p.Ile288Thr Single submitter ⚠
- p.Ile288Val Single submitter intellectual disability, X-linked 30 ⚠
- p.Ile310Thr Single submitter ⚠
- p.Ile388Met Single submitter ⚠
- p.Leu233Phe Single submitter intellectual disability, X-linked 30 ⚠
- p.Leu28Phe Single submitter ⚠
- p.Leu463Phe Single submitter intellectual disability, X-linked 30 ⚠
- p.Leu519Phe Single submitter ⚠
- p.Lys243Glu Single submitter ⚠
- p.Lys245Arg Single submitter Inborn genetic diseases ⚠
- p.Lys267Asn Single submitter Inborn genetic diseases ⚠
- p.Lys389Asn Single submitter Inborn genetic diseases ⚠
- p.Met1Arg Single submitter
- p.Met422Ile Single submitter intellectual disability, X-linked 30 ⚠
- p.Phe406Leu Single submitter intellectual disability, X-linked 30 ⚠
- p.Phe76Leu Single submitter ⚠
- p.Pro11Ser Single submitter ⚠
- p.Pro164= Single submitter intellectual disability, X-linked 30
- p.Pro164Ser Single submitter intellectual disability, X-linked 30 ⚠
- p.Pro165Ala Single submitter ⚠
- p.Pro165Leu Single submitter ⚠
- p.Pro189Leu Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Pro441Leu Single submitter Inborn genetic diseases ⚠
- p.Pro441Thr Single submitter Inborn genetic diseases ⚠
- p.Pro460His Single submitter ⚠
- p.Ser139Arg Single submitter ⚠
- p.Ser171Pro Single submitter ⚠
- p.Ser209Phe Single submitter Inborn genetic diseases ⚠
- p.Ser20Thr Single submitter intellectual disability, X-linked 30 ⚠
- p.Ser349Phe Single submitter ⚠
- p.Thr221Pro Single submitter ⚠
- p.Thr355Lys Single submitter ⚠
- p.Thr425Ala Single submitter ⚠
- p.Thr529Ala Single submitter ⚠
- p.Thr79Glu Single submitter intellectual disability, X-linked 30
- p.Tyr126Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr439Cys Single submitter ⚠
- p.Val122Ile Single submitter ⚠
- p.Val206Met Single submitter ⚠
- p.Val282Ala Single submitter ⚠
- p.Val423Met Single submitter Inborn genetic diseases ⚠
- p.Val443Phe Single submitter ⚠
- p.Val491Ala Single submitter Inborn genetic diseases ⚠
- c.1211-1G>T No assertion criteria PAK3-related disorder
- p.Gly396Arg No assertion criteria PAK3-related disorder ⚠