RPS6KA3 — 559 ClinVar variants
All ClinVar germline RPS6KA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →
102 Pathogenic · 6 Pathogenic/Likely pathogenic · 64 Likely pathogenic · 16 Conflicting · 51 Benign · 21 Benign/Likely benign · 142 Likely benign · 157 Uncertain significance
Full RPS6KA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 138
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RPS6KA3 p.Arg119His
Conflicting
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Arg305Gln
Conflicting
Single submitter
intellectual disability, X-linked 19
-
RPS6KA3 p.Asp250Asn
Conflicting
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Ile28Thr
Conflicting
Single submitter
RPS6KA3-related disorder
-
RPS6KA3 p.Met99Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RPS6KA3 p.Pro554Leu
Conflicting
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Ser46Asn
Conflicting
Single submitter
Inborn genetic diseases
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
RPS6KA3 c.1959+2dup
Conflicting
Single submitter
Coffin-Lowry syndrome
Predictors lean, ClinVar uncertain 102
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RPS6KA3 p.Ala532Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RPS6KA3 p.Arg114Gln
Uncertain significance
Multiple submitters
Coffin-Lowry syndrome
- RPS6KA3 p.Arg158Cys Uncertain significance Multiple submitters
-
RPS6KA3 p.Arg413Gly
Uncertain significance
Multiple submitters
intellectual disability, X-linked 19
-
RPS6KA3 p.Asn445Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RPS6KA3 p.Glu423Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RPS6KA3 p.Lys487Met
Uncertain significance
Multiple submitters
Coffin-Lowry syndrome
-
RPS6KA3 p.Met611Val
Uncertain significance
Multiple submitters
intellectual disability, X-linked 19
-
RPS6KA3 p.Met99Val
Uncertain significance
Multiple submitters
Coffin-Lowry syndrome
-
RPS6KA3 p.Phe212Val
Uncertain significance
Multiple submitters
Coffin-Lowry syndrome
-
RPS6KA3 p.Thr246Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RPS6KA3 p.Thr329Met
Uncertain significance
Multiple submitters
Coffin-Lowry syndrome
-
RPS6KA3 p.Thr651Ile
Uncertain significance
Multiple submitters
intellectual disability, X-linked 19
- RPS6KA3 p.Ala136Asp Uncertain significance Single submitter
-
RPS6KA3 p.Ala236Val
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Ala51Thr Uncertain significance Single submitter
- RPS6KA3 p.Ala597Val Uncertain significance Single submitter
- RPS6KA3 p.Ala598Val Uncertain significance Single submitter
- RPS6KA3 p.Ala652Glu Uncertain significance Single submitter
- RPS6KA3 p.Ala671Pro Uncertain significance Single submitter
-
RPS6KA3 p.Ala671Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RPS6KA3 p.Arg310Gly Uncertain significance Single submitter
- RPS6KA3 p.Arg383Gln Uncertain significance Single submitter
-
RPS6KA3 p.Arg383Pro
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Arg632Gln Uncertain significance Single submitter
-
RPS6KA3 p.Arg667Lys
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Arg712Cys Uncertain significance Single submitter
-
RPS6KA3 p.Asn691His
Uncertain significance
Single submitter
Inborn genetic diseases
- RPS6KA3 p.Asp120Gly Uncertain significance Single submitter
-
RPS6KA3 p.Asp193Gly
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Asp211Gly Uncertain significance Single submitter
- RPS6KA3 p.Asp272Val Uncertain significance Single submitter
- RPS6KA3 p.Asp368Gly Uncertain significance Single submitter
- RPS6KA3 p.Asp484Asn Uncertain significance Single submitter
- RPS6KA3 p.Asp539Ala Uncertain significance Single submitter
-
RPS6KA3 p.Cys229Gly
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Cys560Arg Uncertain significance Single submitter
-
RPS6KA3 p.Gln409Arg
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Gln41Arg Uncertain significance Single submitter
-
RPS6KA3 p.Gln687Arg
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Glu528Gln Uncertain significance Single submitter
-
RPS6KA3 p.Glu588Lys
Uncertain significance
Single submitter
intellectual disability, X-linked 19
-
RPS6KA3 p.Gly255Asp
Uncertain significance
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Gly264Asp
Uncertain significance
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Gly384Val
Uncertain significance
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Gly431Cys
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Gly563Asp Uncertain significance Single submitter
- RPS6KA3 p.Gly614Arg Uncertain significance Single submitter
- RPS6KA3 p.Gly636Arg Uncertain significance Single submitter
- RPS6KA3 p.Gly642Val Uncertain significance Single submitter
- RPS6KA3 p.His127Tyr Uncertain significance Single submitter
- RPS6KA3 p.His183Asn Uncertain significance Single submitter
-
RPS6KA3 p.His206Pro
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.His681Arg Uncertain significance Single submitter
-
RPS6KA3 p.Ile219Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RPS6KA3 p.Ile477Asn Uncertain significance Single submitter
-
RPS6KA3 p.Ile735Asn
Uncertain significance
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Leu200Phe
Uncertain significance
Single submitter
intellectual disability, X-linked 19
-
RPS6KA3 p.Leu335Pro
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Leu660Arg Uncertain significance Single submitter
-
RPS6KA3 p.Leu674Arg
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Lys100Arg Uncertain significance Single submitter
-
RPS6KA3 p.Lys100Asn
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Lys142Arg Uncertain significance Single submitter
-
RPS6KA3 p.Lys171Arg
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Lys171Thr Uncertain significance Single submitter
-
RPS6KA3 p.Lys345Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RPS6KA3 p.Lys367Arg
Uncertain significance
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Lys480Arg
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Lys566Glu Uncertain significance Single submitter
-
RPS6KA3 p.Lys658Arg
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Lys87Asn Uncertain significance Single submitter
-
RPS6KA3 p.Met258Val
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Met33Thr Uncertain significance Single submitter
-
RPS6KA3 p.Met446Val
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Met99Leu Uncertain significance Single submitter
- RPS6KA3 p.Phe68Tyr Uncertain significance Single submitter
-
RPS6KA3 p.Pro315Ala
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Pro342Leu Uncertain significance Single submitter
-
RPS6KA3 p.Pro40Ala
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Pro460Ser Uncertain significance Single submitter
-
RPS6KA3 p.Pro626Leu
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Ser186Arg Uncertain significance Single submitter
-
RPS6KA3 p.Ser292Asn
Uncertain significance
Single submitter
intellectual disability, X-linked 19
-
RPS6KA3 p.Ser297Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- RPS6KA3 p.Ser325Leu Uncertain significance Single submitter
- RPS6KA3 p.Ser375Arg Uncertain significance Single submitter
- RPS6KA3 p.Ser415Ile Uncertain significance Single submitter
-
RPS6KA3 p.Ser641Asn
Uncertain significance
Single submitter
RP56KA3-related disorder
-
RPS6KA3 p.Thr348Ala
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Thr348Met Uncertain significance Single submitter
-
RPS6KA3 p.Thr42Ala
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Thr461Ala Uncertain significance Single submitter
-
RPS6KA3 p.Trp252Arg
Uncertain significance
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Tyr470Cys
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Val101Leu Uncertain significance Single submitter
- RPS6KA3 p.Val402Phe Uncertain significance Single submitter
-
RPS6KA3 p.Val699Ile
Uncertain significance
Single submitter
intellectual disability, X-linked 19
-
RPS6KA3 p.Gly152Glu
Uncertain significance
No assertion criteria
RPS6KA3-related disorder
-
RPS6KA3 p.Ile557Thr
Uncertain significance
No assertion criteria
RPS6KA3-related disorder
-
RPS6KA3 p.Lys504Glu
Uncertain significance
No assertion criteria
RPS6KA3-related disorder
-
RPS6KA3 p.Val680Ile
Uncertain significance
No assertion criteria
RPS6KA3-related disorder
Predictors split 27
The independent predictors disagree with each other — read with care.
- RPS6KA3 p.Arg119Pro Likely pathogenic Multiple submitters
-
RPS6KA3 p.Asn620Asp
Uncertain significance
Multiple submitters
Coffin-Lowry syndrome
-
RPS6KA3 p.Gly634Cys
Uncertain significance
Multiple submitters
Coffin-Lowry syndrome
-
RPS6KA3 p.Leu468Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RPS6KA3 p.Thr53Ile
Uncertain significance
Multiple submitters
intellectual disability, X-linked 19
- RPS6KA3 p.Ala308Glu Uncertain significance Single submitter
-
RPS6KA3 p.Ala389Asp
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Ala570Val Uncertain significance Single submitter
-
RPS6KA3 p.Arg323Gly
Uncertain significance
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Asn309Lys Uncertain significance Single submitter
- RPS6KA3 p.Asp220Asn Uncertain significance Single submitter
- RPS6KA3 p.Asp220Glu Uncertain significance Single submitter
-
RPS6KA3 p.Asp454Glu
Conflicting
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Glu203Gly Uncertain significance Single submitter
-
RPS6KA3 p.Glu217Lys
Likely pathogenic
Single submitter
Coffin-Lowry syndrome
- RPS6KA3 p.Gly701Asp Uncertain significance Single submitter
-
RPS6KA3 p.His55Gln
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Ile340Ser Uncertain significance Single submitter
-
RPS6KA3 p.Ile545Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RPS6KA3 p.Lys282Asn
Uncertain significance
Single submitter
intellectual disability, X-linked 19
- RPS6KA3 p.Pro342Ala Uncertain significance Single submitter
- RPS6KA3 p.Ser724Pro Uncertain significance Single submitter
- RPS6KA3 p.Thr706Ala Uncertain significance Single submitter
- RPS6KA3 p.Val163Met Uncertain significance Single submitter
-
RPS6KA3 p.Val721Gly
Uncertain significance
Single submitter
Coffin-Lowry syndrome
-
RPS6KA3 p.Asn126His
Uncertain significance
No assertion criteria
RPS6KA3-related disorder
-
RPS6KA3 p.Thr115Ser
Pathogenic
No assertion criteria
intellectual disability, X-linked 19
All RPS6KA3 variants
Pathogenic 102
- c.593+2_593+5del Multiple submitters Coffin-Lowry syndrome
- p.Arg110Ter Multiple submitters intellectual disability
- p.Arg112Ter Multiple submitters Coffin-Lowry syndrome
- p.Arg243Ter Multiple submitters Coffin-Lowry syndrome
- p.Arg273Ter Multiple submitters Coffin-Lowry syndrome
- p.Arg300Ter Multiple submitters RPS6KA3-related disorder
- p.Arg305Ter Multiple submitters RPS6KA3-related disorder
- p.Arg514Ter Multiple submitters RPS6KA3-related disorder
- p.Arg632Ter Multiple submitters RPS6KA3-related disorder
- p.Gln508Ter Multiple submitters Inborn genetic diseases
- p.Gln567Ter Multiple submitters Inborn genetic diseases
- p.Ile88fs Multiple submitters Coffin-Lowry syndrome
- p.Val435fs Multiple submitters intellectual disability, X-linked 19
- c.1000-2A>C Single submitter RPS6KA3-related disorder
- c.1602+2dup Single submitter Coffin-Lowry syndrome
- c.1765-2A>C Single submitter intellectual disability, X-linked 19
- c.1959+2del Single submitter
- c.2101-2A>G Single submitter Coffin-Lowry syndrome
- c.243+1G>A Single submitter Coffin-Lowry syndrome
- c.244-1G>A Single submitter Coffin-Lowry syndrome
- c.325+1G>A Single submitter RPS6KA3-related disorder
- c.325+2dup Single submitter
- c.407-1G>T Single submitter Coffin-Lowry syndrome
- c.486+1G>T Single submitter
- c.632-1G>A Single submitter
- c.632-1G>T Single submitter
- c.632-2A>C Single submitter Coffin-Lowry syndrome
- c.774+1G>A Single submitter Inborn genetic diseases
- c.774+2T>A Single submitter intellectual disability, X-linked 19
- c.845+4_845+7del Single submitter
- c.845+5G>A Single submitter intellectual disability, X-linked 19
- c.999+1G>A Single submitter
- p.Arg151fs Single submitter Coffin-Lowry syndrome
- p.Arg538fs Single submitter Inborn genetic diseases
- p.Arg558Ter Single submitter Inborn genetic diseases
- p.Asn620fs Single submitter Inborn genetic diseases
- p.Asp148fs Single submitter
- p.Asp202del Single submitter
- p.Asp539fs Single submitter intellectual disability, X-linked 19
- p.Cys579_Tyr580insTer Single submitter intellectual disability, X-linked 19
- p.Gln666Ter Single submitter intellectual disability, X-linked 19
- p.Gln95Ter Single submitter intellectual disability, X-linked 19
- p.Glu162= Single submitter Inborn genetic diseases
- p.Glu204Ter Single submitter
- p.Glu233Ter Single submitter Coffin-Lowry syndrome
- p.Glu238Ter Single submitter Inborn genetic diseases
- p.Glu319Ter Single submitter intellectual disability, X-linked 19
- p.Glu515fs Single submitter
- p.Glu69Ter Single submitter
- p.Gly244fs Single submitter Inborn genetic diseases
- p.Gly563fs Single submitter Coffin-Lowry syndrome
- p.Gly605Asp Single submitter Coffin-Lowry syndrome
- p.Gly614_Tyr615insTer Single submitter Coffin-Lowry syndrome
- p.Ile453fs Single submitter Coffin-Lowry syndrome
- p.Ile523Ter Single submitter intellectual disability, X-linked 19
- p.Ile88_Ser89insTer Single submitter Inborn genetic diseases
- p.Leu201Pro Single submitter Coffin-Lowry syndrome
- p.Leu257fs Single submitter Coffin-Lowry syndrome
- p.Leu299fs Single submitter
- p.Leu311Ter Single submitter Coffin-Lowry syndrome
- p.Lys304Ter Single submitter intellectual disability, X-linked 19
- p.Lys62fs Single submitter
- p.Met496fs Single submitter
- p.Phe68Leu Single submitter
- p.Phe83_Leu84insTer Single submitter Coffin-Lowry syndrome
- p.Pro237Ser Single submitter Coffin-Lowry syndrome
- p.Pro351fs Single submitter Coffin-Lowry syndrome
- p.Pro716fs Single submitter Coffin-Lowry syndrome
- p.Ser215fs Single submitter
- p.Ser248fs Single submitter Coffin-Lowry syndrome
- p.Ser657Ter Single submitter Inborn genetic diseases
- p.Thr276_Met277insTer Single submitter Coffin-Lowry syndrome
- p.Thr669fs Single submitter intellectual disability, X-linked 19
- p.Trp252Ter Single submitter intellectual disability, X-linked 19
- p.Trp602Ter Single submitter
- p.Trp645Ter Single submitter
- p.Tyr144Ter Single submitter Coffin-Lowry syndrome
- p.Tyr433Ter Single submitter Inborn genetic diseases
- p.Tyr488fs Single submitter
- p.Tyr529Ter Single submitter
- p.Tyr580Ter Single submitter intellectual disability, X-linked 19
- p.Val240fs Single submitter
- p.Val536Phe Single submitter
- p.Val699fs Single submitter intellectual disability, X-linked 19
- p.Val721fs Single submitter intellectual disability, X-linked 19
- c.1000-2A>G No assertion criteria Coffin-Lowry syndrome
- c.326-1G>C No assertion criteria Coffin-Lowry syndrome
- c.486+3A>G No assertion criteria Coffin-Lowry syndrome
- p.Arg110fs No assertion criteria Coffin-Lowry syndrome
- p.Arg383Trp No assertion criteria intellectual disability, X-linked 19
- p.Gln689Ter No assertion criteria Coffin-Lowry syndrome
- p.Gly153del No assertion criteria intellectual disability, X-linked 19
- p.Gly75Val No assertion criteria Coffin-Lowry syndrome
- p.Ile189Lys No assertion criteria Coffin-Lowry syndrome
- p.Ile477del No assertion criteria Coffin-Lowry syndrome
- p.Phe268Ser No assertion criteria Coffin-Lowry syndrome
- p.Phe385fs No assertion criteria Coffin-Lowry syndrome
- p.Ser227Ala No assertion criteria Coffin-Lowry syndrome
- p.Ser715fs No assertion criteria Coffin-Lowry syndrome
- p.Thr115Ser No assertion criteria intellectual disability, X-linked 19 ⚠
- p.Val482_Lys653dup No assertion criteria Coffin-Lowry syndrome
- p.Val82Phe No assertion criteria Coffin-Lowry syndrome
Pathogenic/Likely pathogenic 6
- c.1603-5A>G Multiple submitters Coffin-Lowry syndrome
- c.632-1G>C Multiple submitters Inborn genetic diseases
- p.Arg729Gln Multiple submitters Inborn genetic diseases
- p.Arg729Trp Multiple submitters Coffin-Lowry syndrome
- p.Leu298fs Multiple submitters RPS6KA3-related disorder
- p.Leu71Ter Multiple submitters Coffin-Lowry syndrome
Likely pathogenic 64
- p.Arg119Pro Multiple submitters ⚠
- c.126+1_126+2del Single submitter
- c.1354-12T>G Single submitter Coffin-Lowry syndrome
- c.1602+2del Single submitter Coffin-Lowry syndrome
- c.1622_1764+604delinsGAGTCA Single submitter intellectual disability, X-linked 19
- c.1841+1G>C Single submitter Inborn genetic diseases
- c.1960-6_1971del Single submitter Coffin-Lowry syndrome
- c.326-7_326-5del Single submitter RPS6KA3-related disorder
- c.406+1_406+9del Single submitter
- c.406+1G>T Single submitter Coffin-Lowry syndrome
- c.594-1G>A Single submitter intellectual disability, X-linked 19
- c.774+1G>C Single submitter Coffin-Lowry syndrome
- c.775-1del Single submitter Coffin-Lowry syndrome
- c.840_845+3del Single submitter intellectual disability, X-linked 19
- c.846-2A>G Single submitter
- p.Ala178Gly Single submitter Hypertelorism
- p.Arg114Trp Single submitter Coffin-Lowry syndrome
- p.Arg119Cys Single submitter RPS6KA3-related disorder
- p.Arg310Ser Single submitter
- p.Arg337Gly Single submitter intellectual disability
- p.Asn198Lys Single submitter Coffin-Lowry syndrome
- p.Asp154His Single submitter intellectual disability, X-linked 19
- p.Asp193Val Single submitter RPS6KA3-related disorder
- p.Asp272fs Single submitter Coffin-Lowry syndrome
- p.Asp600Asn Single submitter
- p.Cys436Ter Single submitter Coffin-Lowry syndrome
- p.Cys560Tyr Single submitter RPS6KA3-related disorder
- p.Gln409Ter Single submitter RPS6KA3-related disorder
- p.Gln693fs Single submitter Inborn genetic diseases
- p.Gln728Ter Single submitter RPS6KA3-related disorder
- p.Glu204_Gly205delinsAsp Single submitter
- p.Glu204del Single submitter
- p.Glu217Lys Single submitter Coffin-Lowry syndrome ⚠
- p.Glu320Ter Single submitter intellectual disability, X-linked 19
- p.Glu513fs Single submitter
- p.Gly213Cys Single submitter Coffin-Lowry syndrome
- p.Gly213Ser Single submitter
- p.Gly77Arg Single submitter RPS6KA3-related disorder
- p.His206Arg Single submitter
- p.His341fs Single submitter Coffin-Lowry syndrome
- p.Leu495Phe Single submitter
- p.Leu608Arg Single submitter Coffin-Lowry syndrome
- p.Leu655fs Single submitter Coffin-Lowry syndrome
- p.Leu71fs Single submitter
- p.Lys100Ter Single submitter
- p.Lys104del Single submitter intellectual disability, X-linked 19
- p.Lys216Glu Single submitter Coffin-Lowry syndrome
- p.Lys216Ter Single submitter intellectual disability, X-linked 19
- p.Lys81Asn Single submitter
- p.Met235Lys Single submitter Coffin-Lowry syndrome
- p.Pro677fs Single submitter intellectual disability, X-linked 19
- p.Ser406Ter Single submitter
- p.Thr210Ile Single submitter Coffin-Lowry syndrome
- p.Thr581Ala Single submitter
- p.Trp251Arg Single submitter
- p.Trp332Ter Single submitter RPS6KA3-related disorder
- p.Trp682Ter Single submitter RPS6KA3-related disorder
- p.Tyr688Ter Single submitter RPS6KA3-related disorder
- p.Val240Ile Single submitter ⚠
- p.Asp148Val No assertion criteria Coffin-Lowry syndrome
- p.Asp459Val No assertion criteria Coffin-Lowry syndrome
- p.Asp503His No assertion criteria Coffin-Lowry syndrome
- p.Glu588Gln No assertion criteria Coffin-Lowry syndrome
- p.Val536fs No assertion criteria RPS6KA3-related disorder
Conflicting classifications of pathogenicity 16
- c.1000-19dup Single submitter Coffin-Lowry syndrome
- c.1227+9A>T Single submitter intellectual disability, X-linked 19
- c.1959+2dup Single submitter Coffin-Lowry syndrome ⚠
- c.326-11A>G Single submitter Inborn genetic diseases
- c.407-4T>G Single submitter Coffin-Lowry syndrome
- c.594-10dup Single submitter Inborn genetic diseases
- p.Arg119His Single submitter Coffin-Lowry syndrome ⚠
- p.Arg305Gln Single submitter intellectual disability, X-linked 19 ⚠
- p.Asp250Asn Single submitter Coffin-Lowry syndrome ⚠
- p.Asp454Glu Single submitter Coffin-Lowry syndrome ⚠
- p.Gly75= Single submitter Coffin-Lowry syndrome
- p.Ile28Thr Single submitter RPS6KA3-related disorder ⚠
- p.Leu495Ile Single submitter Coffin-Lowry syndrome
- p.Met99Thr Single submitter Inborn genetic diseases ⚠
- p.Pro554Leu Single submitter Coffin-Lowry syndrome ⚠
- p.Ser46Asn Single submitter Inborn genetic diseases ⚠
Benign 51
- c.1444-74C>T Multiple submitters
- c.1841+162C>T Multiple submitters
- c.2101-56T>C Multiple submitters
- c.774+28A>G Multiple submitters
- c.774+90T>G Multiple submitters
- c.*271T>C Multiple submitters
- p.Asn691= Multiple submitters Inborn genetic diseases
- p.Ile38Ser Multiple submitters Coffin-Lowry syndrome
- p.Leu266= Multiple submitters Inborn genetic diseases
- c.1000-6dup Single submitter intellectual disability, X-linked 19
- c.1103-10C>T Single submitter intellectual disability, X-linked 19
- c.1103-208A>C Single submitter
- c.126+13T>C Single submitter Coffin-Lowry syndrome
- c.127-14G>A Single submitter intellectual disability, X-linked 19
- c.127-226_127-224del Single submitter
- c.1353+13dup Single submitter intellectual disability, X-linked 19
- c.1443+254G>C Single submitter
- c.1444-248T>C Single submitter
- c.1764+155G>A Single submitter
- c.1764+222C>T Single submitter
- c.1842-7A>G Single submitter Coffin-Lowry syndrome
- c.244-264G>T Single submitter
- c.326-344G>A Single submitter
- c.406+13C>T Single submitter Coffin-Lowry syndrome
- c.593+16A>G Single submitter intellectual disability, X-linked 19
- c.631+13T>C Single submitter intellectual disability, X-linked 19
- c.632-196G>A Single submitter
- c.70-20G>A Single submitter intellectual disability, X-linked 19
- c.774+306C>T Single submitter
- c.845+10C>T Single submitter Coffin-Lowry syndrome
- c.845+221C>T Single submitter
- c.845+225_845+226del Single submitter
- c.846-6A>G Single submitter Coffin-Lowry syndrome
- c.846-71_846-67del Single submitter
- p.Ala295= Single submitter Coffin-Lowry syndrome
- p.Gln714= Single submitter Coffin-Lowry syndrome
- p.His185= Single submitter intellectual disability, X-linked 19
- p.His206= Single submitter intellectual disability, X-linked 19
- p.His531= Single submitter Coffin-Lowry syndrome
- p.Ile416Met Single submitter Coffin-Lowry syndrome
- p.Leu102= Single submitter intellectual disability, X-linked 19
- p.Leu181= Single submitter intellectual disability, X-linked 19
- p.Leu214= Single submitter intellectual disability, X-linked 19
- p.Leu674= Single submitter Coffin-Lowry syndrome
- p.Lys142= Single submitter intellectual disability, X-linked 19
- p.Lys345= Single submitter intellectual disability, X-linked 19
- p.Pro342= Single submitter intellectual disability, X-linked 19
- p.Pro343= Single submitter intellectual disability, X-linked 19
- p.Pro554= Single submitter intellectual disability, X-linked 19
- p.Thr329= Single submitter Coffin-Lowry syndrome
- p.Val482= Single submitter intellectual disability, X-linked 19
Benign/Likely benign 21
- c.1000-10del Multiple submitters Coffin-Lowry syndrome
- c.1353+5A>T Multiple submitters intellectual disability, X-linked 19
- c.244-5T>C Multiple submitters Inborn genetic diseases
- c.406+12C>A Multiple submitters Coffin-Lowry syndrome
- c.631+12del Multiple submitters Coffin-Lowry syndrome
- c.631+12dup Multiple submitters Coffin-Lowry syndrome
- c.631+18G>A Multiple submitters Coffin-Lowry syndrome
- p.Ala570= Multiple submitters intellectual disability, X-linked 19
- p.Arg723His Multiple submitters Inborn genetic diseases
- p.Asn414= Multiple submitters Inborn genetic diseases
- p.Asp663= Multiple submitters Inborn genetic diseases
- p.Glu360= Multiple submitters intellectual disability, X-linked 19
- p.Glu628Asp Multiple submitters intellectual disability, X-linked 19
- p.His341= Multiple submitters intellectual disability, X-linked 19
- p.Ile407Val Multiple submitters Inborn genetic diseases
- p.Ile416Val Multiple submitters intellectual disability, X-linked 19
- p.Ile47Val Multiple submitters intellectual disability, X-linked 19
- p.Leu71= Multiple submitters Inborn genetic diseases
- p.Ser432= Multiple submitters intellectual disability, X-linked 19
- p.Thr362= Multiple submitters intellectual disability, X-linked 19
- p.Val404= Multiple submitters Inborn genetic diseases
Likely benign 142
- c.1354-17A>C Multiple submitters intellectual disability, X-linked 19
- c.1444-5T>C Multiple submitters
- c.244-17C>T Multiple submitters Coffin-Lowry syndrome
- c.325+16A>G Multiple submitters Coffin-Lowry syndrome
- c.406+14G>A Multiple submitters Coffin-Lowry syndrome
- c.775-17A>G Multiple submitters intellectual disability, X-linked 19
- c.845+108A>C Multiple submitters
- p.Ala695= Multiple submitters intellectual disability, X-linked 19
- p.Asp650= Multiple submitters
- p.Glu320= Multiple submitters
- c.1000-10T>C Single submitter Coffin-Lowry syndrome
- c.1000-15T>A Single submitter intellectual disability, X-linked 19
- c.1000-18T>C Single submitter intellectual disability, X-linked 19
- c.1000-18T>G Single submitter intellectual disability, X-linked 19
- c.1000-7C>T Single submitter intellectual disability, X-linked 19
- c.1000-8C>T Single submitter intellectual disability, X-linked 19
- c.1103-11A>G Single submitter intellectual disability, X-linked 19
- c.1103-14C>G Single submitter intellectual disability, X-linked 19
- c.1227+124G>A Single submitter
- c.1227+14T>C Single submitter Coffin-Lowry syndrome
- c.1227+18T>C Single submitter intellectual disability, X-linked 19
- c.1227+7G>A Single submitter intellectual disability, X-linked 19
- c.1228-563G>C Single submitter
- c.126+19C>T Single submitter Coffin-Lowry syndrome
- c.127-15C>T Single submitter
- c.127-19C>G Single submitter intellectual disability, X-linked 19
- c.127-9440G>A Single submitter
- c.1353+11T>C Single submitter intellectual disability, X-linked 19
- c.1354-15A>G Single submitter intellectual disability, X-linked 19
- c.1443+19A>G Single submitter intellectual disability, X-linked 19
- c.1443+9del Single submitter intellectual disability, X-linked 19
- c.1444-4A>T Single submitter
- c.1602+13A>C Single submitter intellectual disability, X-linked 19
- c.1602+17C>T Single submitter intellectual disability, X-linked 19
- c.1603-19T>G Single submitter intellectual disability, X-linked 19
- c.1765-10C>T Single submitter intellectual disability, X-linked 19
- c.1841+16A>G Single submitter intellectual disability, X-linked 19
- c.1841+261AC[3] Single submitter
- c.1842-20T>C Single submitter intellectual disability, X-linked 19
- c.1842-300C>T Single submitter
- c.1959+17A>C Single submitter intellectual disability, X-linked 19
- c.1959+18T>C Single submitter intellectual disability, X-linked 19
- c.1960-16A>T Single submitter Coffin-Lowry syndrome
- c.1960-7A>G Single submitter intellectual disability, X-linked 19
- c.2100+15A>G Single submitter intellectual disability, X-linked 19
- c.2100+18G>T Single submitter intellectual disability, X-linked 19
- c.2100+217G>A Single submitter
- c.2101-19C>A Single submitter intellectual disability, X-linked 19
- c.2101-19C>T Single submitter
- c.243+17T>C Single submitter
- c.243+19C>T Single submitter Coffin-Lowry syndrome
- c.244-11C>T Single submitter intellectual disability, X-linked 19
- c.244-201A>C Single submitter
- c.244-20T>C Single submitter intellectual disability, X-linked 19
- c.244-4G>T Single submitter intellectual disability, X-linked 19
- c.244-7A>C Single submitter intellectual disability, X-linked 19
- c.325+197C>T Single submitter
- c.326-20A>C Single submitter intellectual disability, X-linked 19
- c.406+11G>A Single submitter intellectual disability, X-linked 19
- c.486+20T>G Single submitter intellectual disability, X-linked 19
- c.593+11A>G Single submitter intellectual disability, X-linked 19
- c.593+332C>T Single submitter
- c.593+7A>C Single submitter intellectual disability, X-linked 19
- c.594-15C>A Single submitter intellectual disability, X-linked 19
- c.594-18T>C Single submitter intellectual disability, X-linked 19
- c.631+17C>T Single submitter intellectual disability, X-linked 19
- c.631+20T>C Single submitter intellectual disability, X-linked 19
- c.631+7A>G Single submitter
- c.631+9A>C Single submitter Coffin-Lowry syndrome
- c.632-248G>A Single submitter
- c.70-15C>T Single submitter intellectual disability, X-linked 19
- c.70-19C>A Single submitter Coffin-Lowry syndrome
- c.774+12A>C Single submitter intellectual disability, X-linked 19
- c.775-184C>T Single submitter
- c.775-207dup Single submitter
- c.775-244dup Single submitter
- c.775-65del Single submitter
- c.846-13A>G Single submitter intellectual disability, X-linked 19
- c.934+14_934+17del Single submitter intellectual disability, X-linked 19
- c.934+14C>A Single submitter intellectual disability, X-linked 19
- c.935-108ATTA[6] Single submitter
- c.935-155C>T Single submitter
- c.935-216G>A Single submitter
- c.935-4A>T Single submitter intellectual disability, X-linked 19
- c.999+18A>G Single submitter intellectual disability, X-linked 19
- p.Ala443= Single submitter
- p.Arg723Cys Single submitter Inborn genetic diseases
- p.Asp459= Single submitter intellectual disability, X-linked 19
- p.Gln95= Single submitter
- p.Gly255= Single submitter intellectual disability, X-linked 19
- p.Gly471= Single submitter intellectual disability, X-linked 19
- p.Gly731= Single submitter
- p.Ile545= Single submitter
- p.Ile545Met Single submitter
- p.Ile679= Single submitter intellectual disability, X-linked 19
- p.Ile735= Single submitter Coffin-Lowry syndrome
- p.Leu194= Single submitter Inborn genetic diseases
- p.Leu257= Single submitter Coffin-Lowry syndrome
- p.Leu298= Single submitter Inborn genetic diseases
- p.Leu335= Single submitter intellectual disability, X-linked 19
- p.Leu381= Single submitter Inborn genetic diseases
- p.Leu640= Single submitter Coffin-Lowry syndrome
- p.Lys132= Single submitter intellectual disability, X-linked 19
- p.Phe129= Single submitter Coffin-Lowry syndrome
- p.Pro293Ala Single submitter intellectual disability, X-linked 19
- p.Pro346= Single submitter Coffin-Lowry syndrome
- p.Pro373= Single submitter
- p.Pro460= Single submitter Inborn genetic diseases
- p.Pro474= Single submitter intellectual disability, X-linked 19
- p.Pro617= Single submitter intellectual disability, X-linked 19
- p.Ser635= Single submitter intellectual disability, X-linked 19
- p.Thr106= Single submitter intellectual disability, X-linked 19
- p.Thr354= Single submitter intellectual disability, X-linked 19
- p.Thr706= Single submitter intellectual disability, X-linked 19
- p.Val101= Single submitter intellectual disability, X-linked 19
- p.Val109= Single submitter Coffin-Lowry syndrome
- p.Val489= Single submitter Coffin-Lowry syndrome
- p.Val548= Single submitter intellectual disability, X-linked 19
- c.1000-11_1000-10del No assertion criteria RPS6KA3-related disorder
- c.1227+9A>G No assertion criteria RPS6KA3-related disorder
- c.326-12A>G No assertion criteria RPS6KA3-related disorder
- c.631+9_631+12del No assertion criteria RPS6KA3-related disorder
- c.845+8del No assertion criteria RPS6KA3-related disorder
- c.934+9T>G No assertion criteria RPS6KA3-related disorder
- c.-4G>A No assertion criteria RPS6KA3-related disorder
- c.-9G>A No assertion criteria RPS6KA3-related disorder
- p.Ala175= No assertion criteria RPS6KA3-related disorder
- p.Ala63= No assertion criteria RPS6KA3-related disorder
- p.Asp120= No assertion criteria RPS6KA3-related disorder
- p.Cys439= No assertion criteria RPS6KA3-related disorder
- p.Glu37= No assertion criteria RPS6KA3-related disorder
- p.Glu447= No assertion criteria RPS6KA3-related disorder
- p.Ile440= No assertion criteria RPS6KA3-related disorder
- p.Ile88= No assertion criteria RPS6KA3-related disorder
- p.Leu107= No assertion criteria RPS6KA3-related disorder
- p.Leu540= No assertion criteria RPS6KA3-related disorder
- p.Leu655= No assertion criteria RPS6KA3-related disorder
- p.Lys425= No assertion criteria RPS6KA3-related disorder
- p.Lys437= No assertion criteria RPS6KA3-related disorder
- p.Lys497= No assertion criteria RPS6KA3-related disorder
- p.Thr210= No assertion criteria RPS6KA3-related disorder
- p.Val239= No assertion criteria RPS6KA3-related disorder
Uncertain significance 157
- c.1960-3C>T Multiple submitters Coffin-Lowry syndrome
- p.Ala532Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg114Gln Multiple submitters Coffin-Lowry syndrome ⚠
- p.Arg158Cys Multiple submitters ⚠
- p.Arg413Gly Multiple submitters intellectual disability, X-linked 19 ⚠
- p.Asn445Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn620Asp Multiple submitters Coffin-Lowry syndrome ⚠
- p.Glu423Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly634Cys Multiple submitters Coffin-Lowry syndrome ⚠
- p.Leu468Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys487Met Multiple submitters Coffin-Lowry syndrome ⚠
- p.Met611Val Multiple submitters intellectual disability, X-linked 19 ⚠
- p.Met99Val Multiple submitters Coffin-Lowry syndrome ⚠
- p.Phe212Val Multiple submitters Coffin-Lowry syndrome ⚠
- p.Thr246Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr329Met Multiple submitters Coffin-Lowry syndrome ⚠
- p.Thr53Ile Multiple submitters intellectual disability, X-linked 19 ⚠
- p.Thr651Ile Multiple submitters intellectual disability, X-linked 19 ⚠
- c.127-15C>G Single submitter
- c.1353+6T>A Single submitter intellectual disability, X-linked 19
- c.1443+5G>A Single submitter Coffin-Lowry syndrome
- c.1443+6T>C Single submitter Coffin-Lowry syndrome
- c.1444-3T>G Single submitter Coffin-Lowry syndrome
- c.1602+5G>C Single submitter Coffin-Lowry syndrome
- c.1841+5G>C Single submitter intellectual disability, X-linked 19
- c.1959+2T>C Single submitter Coffin-Lowry syndrome
- c.2100+10C>T Single submitter intellectual disability, X-linked 19
- c.2100+5G>A Single submitter intellectual disability, X-linked 19
- c.243+6T>G Single submitter intellectual disability, X-linked 19
- c.325+6T>A Single submitter intellectual disability, X-linked 19
- c.326-16dup Single submitter intellectual disability, X-linked 19
- c.407-12T>G Single submitter
- c.407-6A>G Single submitter
- c.631+6A>C Single submitter intellectual disability, X-linked 19
- c.632-3C>T Single submitter
- c.632-7T>C Single submitter
- c.70-10646A>G Single submitter intellectual disability, X-linked 19
- c.999+2dup Single submitter intellectual disability, X-linked 19
- c.999+8T>C Single submitter
- c.-6G>A Single submitter Inborn genetic diseases
- c.-9G>T Single submitter
- p.Ala136Asp Single submitter ⚠
- p.Ala236Val Single submitter intellectual disability, X-linked 19 ⚠
- p.Ala308Glu Single submitter ⚠
- p.Ala389Asp Single submitter Coffin-Lowry syndrome ⚠
- p.Ala51Thr Single submitter ⚠
- p.Ala570Val Single submitter ⚠
- p.Ala597Val Single submitter ⚠
- p.Ala598Val Single submitter ⚠
- p.Ala652Glu Single submitter ⚠
- p.Ala671Pro Single submitter ⚠
- p.Ala671Val Single submitter Inborn genetic diseases ⚠
- p.Arg300_Leu302del Single submitter Coffin-Lowry syndrome
- p.Arg310Gly Single submitter ⚠
- p.Arg323Gly Single submitter Coffin-Lowry syndrome ⚠
- p.Arg383Gln Single submitter ⚠
- p.Arg383Pro Single submitter Coffin-Lowry syndrome ⚠
- p.Arg632Gln Single submitter ⚠
- p.Arg667Lys Single submitter intellectual disability, X-linked 19 ⚠
- p.Arg712Cys Single submitter ⚠
- p.Asn309Lys Single submitter ⚠
- p.Asn691His Single submitter Inborn genetic diseases ⚠
- p.Asp120Gly Single submitter ⚠
- p.Asp193Gly Single submitter Coffin-Lowry syndrome ⚠
- p.Asp211Gly Single submitter ⚠
- p.Asp220Asn Single submitter ⚠
- p.Asp220Glu Single submitter ⚠
- p.Asp272Val Single submitter ⚠
- p.Asp368Gly Single submitter ⚠
- p.Asp484Asn Single submitter ⚠
- p.Asp539Ala Single submitter ⚠
- p.Cys229Gly Single submitter Coffin-Lowry syndrome ⚠
- p.Cys560Arg Single submitter ⚠
- p.Gln409Arg Single submitter intellectual disability, X-linked 19 ⚠
- p.Gln41Arg Single submitter ⚠
- p.Gln687Arg Single submitter intellectual disability, X-linked 19 ⚠
- p.Glu203Gly Single submitter ⚠
- p.Glu528Gln Single submitter ⚠
- p.Glu588Lys Single submitter intellectual disability, X-linked 19 ⚠
- p.Gly255Asp Single submitter Coffin-Lowry syndrome ⚠
- p.Gly264Asp Single submitter Coffin-Lowry syndrome ⚠
- p.Gly384Val Single submitter Coffin-Lowry syndrome ⚠
- p.Gly431Cys Single submitter intellectual disability, X-linked 19 ⚠
- p.Gly563Asp Single submitter ⚠
- p.Gly614Arg Single submitter ⚠
- p.Gly636Arg Single submitter ⚠
- p.Gly642Ala Single submitter
- p.Gly642Val Single submitter ⚠
- p.Gly701Asp Single submitter ⚠
- p.His127Tyr Single submitter ⚠
- p.His183Asn Single submitter ⚠
- p.His206Pro Single submitter intellectual disability, X-linked 19 ⚠
- p.His55= Single submitter
- p.His55Gln Single submitter intellectual disability, X-linked 19 ⚠
- p.His681Arg Single submitter ⚠
- p.Ile219Val Single submitter Inborn genetic diseases ⚠
- p.Ile340Ser Single submitter ⚠
- p.Ile477Asn Single submitter ⚠
- p.Ile545Val Single submitter Inborn genetic diseases ⚠
- p.Ile735Asn Single submitter Coffin-Lowry syndrome ⚠
- p.Ile735fs Single submitter Inborn genetic diseases
- p.Leu200Phe Single submitter intellectual disability, X-linked 19 ⚠
- p.Leu335Pro Single submitter Coffin-Lowry syndrome ⚠
- p.Leu660Arg Single submitter ⚠
- p.Leu674Arg Single submitter Coffin-Lowry syndrome ⚠
- p.Lys100Arg Single submitter ⚠
- p.Lys100Asn Single submitter intellectual disability, X-linked 19 ⚠
- p.Lys142Arg Single submitter ⚠
- p.Lys171Arg Single submitter Coffin-Lowry syndrome ⚠
- p.Lys171Thr Single submitter ⚠
- p.Lys282Asn Single submitter intellectual disability, X-linked 19 ⚠
- p.Lys345Thr Single submitter Inborn genetic diseases ⚠
- p.Lys367Arg Single submitter Coffin-Lowry syndrome ⚠
- p.Lys480Arg Single submitter intellectual disability, X-linked 19 ⚠
- p.Lys566Glu Single submitter ⚠
- p.Lys658Arg Single submitter intellectual disability, X-linked 19 ⚠
- p.Lys87Asn Single submitter ⚠
- p.Met258Val Single submitter intellectual disability, X-linked 19 ⚠
- p.Met33Thr Single submitter ⚠
- p.Met446Val Single submitter intellectual disability, X-linked 19 ⚠
- p.Met99Leu Single submitter ⚠
- p.Phe68Tyr Single submitter ⚠
- p.Pro315Ala Single submitter Coffin-Lowry syndrome ⚠
- p.Pro342Ala Single submitter ⚠
- p.Pro342Leu Single submitter ⚠
- p.Pro40Ala Single submitter Coffin-Lowry syndrome ⚠
- p.Pro460Ser Single submitter ⚠
- p.Pro474Leu Single submitter
- p.Pro626Leu Single submitter Coffin-Lowry syndrome ⚠
- p.Ser186Arg Single submitter ⚠
- p.Ser292Asn Single submitter intellectual disability, X-linked 19 ⚠
- p.Ser297Asn Single submitter Inborn genetic diseases ⚠
- p.Ser325Leu Single submitter ⚠
- p.Ser375Arg Single submitter ⚠
- p.Ser415Ile Single submitter ⚠
- p.Ser641Asn Single submitter RP56KA3-related disorder ⚠
- p.Ser724Pro Single submitter ⚠
- p.Thr115= Single submitter
- p.Thr348Ala Single submitter intellectual disability, X-linked 19 ⚠
- p.Thr348Met Single submitter ⚠
- p.Thr42Ala Single submitter Coffin-Lowry syndrome ⚠
- p.Thr461Ala Single submitter ⚠
- p.Thr706Ala Single submitter ⚠
- p.Trp252Arg Single submitter Coffin-Lowry syndrome ⚠
- p.Tyr470Cys Single submitter intellectual disability, X-linked 19 ⚠
- p.Tyr609Phe Single submitter
- p.Val101Leu Single submitter ⚠
- p.Val163Met Single submitter ⚠
- p.Val402Phe Single submitter ⚠
- p.Val656= Single submitter
- p.Val699Ile Single submitter intellectual disability, X-linked 19 ⚠
- p.Val721Gly Single submitter Coffin-Lowry syndrome ⚠
- p.Asn126His No assertion criteria RPS6KA3-related disorder ⚠
- p.Gly152Glu No assertion criteria RPS6KA3-related disorder ⚠
- p.Ile557Thr No assertion criteria RPS6KA3-related disorder ⚠
- p.Lys504Glu No assertion criteria RPS6KA3-related disorder ⚠
- p.Val680Ile No assertion criteria RPS6KA3-related disorder ⚠