SIN3A — 813 ClinVar variants
All ClinVar germline SIN3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 360 flagged for review →
71 Pathogenic · 9 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 27 Conflicting · 24 Benign · 9 Benign/Likely benign · 252 Likely benign · 379 Uncertain significance
Full SIN3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 360
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
- SIN3A p.Gln426Glu Likely pathogenic Single submitter
-
SIN3A p.Leu669Phe
Likely pathogenic
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Thr629Ala Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SIN3A p.Ala826Gly
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Ala90Thr
Conflicting
Single submitter
Inborn genetic diseases
- SIN3A p.Arg1097His Conflicting Single submitter
-
SIN3A p.Arg1201Cys
Conflicting
Single submitter
Inborn genetic diseases
- SIN3A p.Arg1224Cys Conflicting Single submitter
-
SIN3A p.Arg928Gln
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Asn751Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Asn855Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Asp1215Asn
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Glu840Gly
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Gly1034Arg
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Gly859Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Ile630Val
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Lys448Arg
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Lys784Arg
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Met452Val
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Pro279Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SIN3A p.Ser274Pro
Conflicting
Single submitter
SIN3A-related syndromic intellectual disability
-
SIN3A p.Thr1218Ser
Conflicting
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Thr292Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 269
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 269
-
SIN3A p.Ala242Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SIN3A p.Arg1132Gln Uncertain significance Multiple submitters
-
SIN3A p.Asn1151Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Asn414Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Asp975Asn
Uncertain significance
Multiple submitters
SIN3A-related disorder
-
SIN3A p.Gln1208His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Gly72Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Gly733Arg
Uncertain significance
Multiple submitters
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Gly96Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.His458Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Ile1016Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Ile1079Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Ile636Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Leu1025Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Leu1239Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Leu474Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SIN3A p.Lys1164Arg Uncertain significance Multiple submitters
-
SIN3A p.Lys173Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Lys578Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Met1067Thr
Uncertain significance
Multiple submitters
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Met965Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SIN3A p.Pro212Leu Uncertain significance Multiple submitters
-
SIN3A p.Pro246Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Pro417Leu
Uncertain significance
Multiple submitters
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Pro772Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Ser1112Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Ser228Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Ser71Phe
Uncertain significance
Multiple submitters
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Thr462Lys Uncertain significance Multiple submitters
-
SIN3A p.Thr52Met
Uncertain significance
Multiple submitters
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Thr89Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SIN3A p.Val1102Met Uncertain significance Multiple submitters
-
SIN3A p.Val33Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Val387Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SIN3A p.Ala1032Ser Uncertain significance Single submitter
- SIN3A p.Ala103Thr Uncertain significance Single submitter
-
SIN3A p.Ala110Thr
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Ala1120Gly
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome
- SIN3A p.Ala126Val Uncertain significance Single submitter
- SIN3A p.Ala15Thr Uncertain significance Single submitter
- SIN3A p.Ala232Val Uncertain significance Single submitter
- SIN3A p.Ala235Val Uncertain significance Single submitter
- SIN3A p.Ala248Val Uncertain significance Single submitter
- SIN3A p.Ala273Val Uncertain significance Single submitter
-
SIN3A p.Ala360Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Ala477Val
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Ala479Ser Uncertain significance Single submitter
- SIN3A p.Ala498Val Uncertain significance Single submitter
-
SIN3A p.Ala678Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Ala678Val Uncertain significance Single submitter
- SIN3A p.Ala780Val Uncertain significance Single submitter
-
SIN3A p.Ala847Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Ala90Val Uncertain significance Single submitter
- SIN3A p.Arg1006Ser Uncertain significance Single submitter
- SIN3A p.Arg1097Cys Uncertain significance Single submitter
- SIN3A p.Arg1201His Uncertain significance Single submitter
- SIN3A p.Arg1224His Uncertain significance Single submitter
- SIN3A p.Arg1263Cys Uncertain significance Single submitter
- SIN3A p.Arg167His Uncertain significance Single submitter
- SIN3A p.Arg167Pro Uncertain significance Single submitter
-
SIN3A p.Arg19Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Arg364Gly Uncertain significance Single submitter
- SIN3A p.Arg364His Uncertain significance Single submitter
- SIN3A p.Arg3Trp Uncertain significance Single submitter
- SIN3A p.Arg428Cys Uncertain significance Single submitter
- SIN3A p.Arg428Leu Uncertain significance Single submitter
- SIN3A p.Arg475Gln Uncertain significance Single submitter
- SIN3A p.Arg475Trp Uncertain significance Single submitter
- SIN3A p.Arg4His Uncertain significance Single submitter
- SIN3A p.Arg631Trp Uncertain significance Single submitter
-
SIN3A p.Arg671Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Arg707Gln Uncertain significance Single submitter
-
SIN3A p.Arg877Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Arg908Gln Uncertain significance Single submitter
- SIN3A p.Arg967Trp Uncertain significance Single submitter
- SIN3A p.Asn1028Asp Uncertain significance Single submitter
- SIN3A p.Asn1030Ile Uncertain significance Single submitter
- SIN3A p.Asn1038Asp Uncertain significance Single submitter
- SIN3A p.Asn1088His Uncertain significance Single submitter
-
SIN3A p.Asn1151Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Asn1151Ser Uncertain significance Single submitter
- SIN3A p.Asn201Ser Uncertain significance Single submitter
-
SIN3A p.Asn348Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Asn348Ser Uncertain significance Single submitter
- SIN3A p.Asn402Asp Uncertain significance Single submitter
- SIN3A p.Asn870Ser Uncertain significance Single submitter
-
SIN3A p.Asn890Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Asn891Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Asp1014Asn Uncertain significance Single submitter
- SIN3A p.Asp1163Asn Uncertain significance Single submitter
- SIN3A p.Asp1163Tyr Uncertain significance Single submitter
- SIN3A p.Asp323Asn Uncertain significance Single submitter
- SIN3A p.Asp7Ala Uncertain significance Single submitter
- SIN3A p.Asp830Tyr Uncertain significance Single submitter
-
SIN3A p.Asp833Val
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Asp843Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Asp939Glu
Uncertain significance
Single submitter
SIN3A-related disorder
-
SIN3A p.Asp971Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Cys486Arg Uncertain significance Single submitter
-
SIN3A p.Cys910Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Gln1007Arg Uncertain significance Single submitter
- SIN3A p.Gln1121Arg Uncertain significance Single submitter
- SIN3A p.Gln1142Arg Uncertain significance Single submitter
- SIN3A p.Gln1142His Uncertain significance Single submitter
- SIN3A p.Gln1143Pro Uncertain significance Single submitter
- SIN3A p.Gln1197Arg Uncertain significance Single submitter
- SIN3A p.Gln17Arg Uncertain significance Single submitter
-
SIN3A p.Gln207Glu
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Gln217Pro Uncertain significance Single submitter
- SIN3A p.Gln219Arg Uncertain significance Single submitter
- SIN3A p.Gln219Leu Uncertain significance Single submitter
- SIN3A p.Gln233Pro Uncertain significance Single submitter
- SIN3A p.Gln257Pro Uncertain significance Single submitter
- SIN3A p.Gln297Glu Uncertain significance Single submitter
- SIN3A p.Gln30Arg Uncertain significance Single submitter
- SIN3A p.Gln336His Uncertain significance Single submitter
-
SIN3A p.Gln426Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Gln492Lys Uncertain significance Single submitter
-
SIN3A p.Gln566Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Gln801His Uncertain significance Single submitter
-
SIN3A p.Gln874Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Gln900His
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Gln92Arg Uncertain significance Single submitter
- SIN3A p.Gln978Leu Uncertain significance Single submitter
- SIN3A p.Glu1047Gly Uncertain significance Single submitter
-
SIN3A p.Glu1252Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Glu153Gln Uncertain significance Single submitter
- SIN3A p.Glu493Gln Uncertain significance Single submitter
- SIN3A p.Glu545Val Uncertain significance Single submitter
- SIN3A p.Glu647Lys Uncertain significance Single submitter
- SIN3A p.Glu662Gly Uncertain significance Single submitter
- SIN3A p.Glu662Lys Uncertain significance Single submitter
- SIN3A p.Glu914Lys Uncertain significance Single submitter
- SIN3A p.Glu919Asp Uncertain significance Single submitter
- SIN3A p.Gly1267Ser Uncertain significance Single submitter
- SIN3A p.Gly291Val Uncertain significance Single submitter
- SIN3A p.Gly424Cys Uncertain significance Single submitter
-
SIN3A p.Gly509Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Gly572Val
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Gly72Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Gly75Glu Uncertain significance Single submitter
- SIN3A p.Gly770Asp Uncertain significance Single submitter
-
SIN3A p.Gly972Val
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.His1118Arg Uncertain significance Single submitter
-
SIN3A p.His1118Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.His259Pro
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.His29Pro Uncertain significance Single submitter
-
SIN3A p.His31Arg
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.His665Arg Uncertain significance Single submitter
- SIN3A p.Ile1133Val Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
-
SIN3A p.Arg19Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Arg471Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Gly829Arg
Uncertain significance
Multiple submitters
SIN3A-related intellectual disability syndrome due to a point mutation
-
SIN3A p.Phe895Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Ser228Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Ser451Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIN3A p.Trp1213Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SIN3A p.Arg1052Trp Uncertain significance Single submitter
- SIN3A p.Arg1104Leu Uncertain significance Single submitter
-
SIN3A p.Arg1116Cys
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Arg1131Gln Uncertain significance Single submitter
- SIN3A p.Arg1131Trp Uncertain significance Single submitter
-
SIN3A p.Arg1140Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Arg1194Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Arg1205Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Arg485His Uncertain significance Single submitter
- SIN3A p.Arg616Cys Likely pathogenic Single submitter
- SIN3A p.Arg631Gln Uncertain significance Single submitter
- SIN3A p.Arg652Ser Uncertain significance Single submitter
- SIN3A p.Arg698Lys Uncertain significance Single submitter
- SIN3A p.Arg928Trp Uncertain significance Single submitter
- SIN3A p.Arg967Gln Uncertain significance Single submitter
- SIN3A p.Asn316His Uncertain significance Single submitter
- SIN3A p.Asn482Ser Uncertain significance Single submitter
-
SIN3A p.Asn735Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Asn973Asp Uncertain significance Single submitter
-
SIN3A p.Asp1060Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Asp1083Glu Uncertain significance Single submitter
- SIN3A p.Asp1100His Uncertain significance Single submitter
- SIN3A p.Asp131Glu Uncertain significance Single submitter
- SIN3A p.Asp177Asn Uncertain significance Single submitter
-
SIN3A p.Asp783Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Asp954Val Uncertain significance Single submitter
- SIN3A p.Cys1063Arg Uncertain significance Single submitter
- SIN3A p.Cys1245Arg Uncertain significance Single submitter
-
SIN3A p.Gln140His
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Gln916His Uncertain significance Single submitter
- SIN3A p.Glu1087Lys Uncertain significance Single submitter
-
SIN3A p.Glu478Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Glu481Lys Uncertain significance Single submitter
-
SIN3A p.Glu838Lys
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Gly523Asp Uncertain significance Single submitter
- SIN3A p.Gly774Arg Uncertain significance Single submitter
- SIN3A p.Gly856Arg Uncertain significance Single submitter
-
SIN3A p.His1207Arg
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Ile681Thr Uncertain significance Single submitter
- SIN3A p.Lys1170Asn Uncertain significance Single submitter
- SIN3A p.Lys525Glu Uncertain significance Single submitter
- SIN3A p.Lys650Thr Uncertain significance Single submitter
- SIN3A p.Lys937Glu Uncertain significance Single submitter
-
SIN3A p.Lys948Glu
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Lys999Arg Uncertain significance Single submitter
-
SIN3A p.Met1235Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Met816Thr Uncertain significance Single submitter
- SIN3A p.Phe507Leu Uncertain significance Single submitter
- SIN3A p.Phe588Leu Uncertain significance Single submitter
-
SIN3A p.Pro351Ser
Uncertain significance
Single submitter
SIN3A-related intellectual disability syndrome due to a point mutation
- SIN3A p.Pro950His Uncertain significance Single submitter
- SIN3A p.Ser101Arg Uncertain significance Single submitter
-
SIN3A p.Ser128Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Ser71Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Tyr1187His Uncertain significance Single submitter
-
SIN3A p.Tyr524Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIN3A p.Tyr757Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SIN3A p.Val123Leu Uncertain significance Single submitter
-
SIN3A p.Val200Ala
Uncertain significance
Single submitter
SIN3A-related disorder
- SIN3A p.Val930Gly Uncertain significance Single submitter
-
SIN3A p.Leu1254Pro
Uncertain significance
No assertion criteria
SIN3A-related intellectual disability syndrome due to a point mutation
All SIN3A variants
Pathogenic 71
- p.Arg1140Ter Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg471Ter Multiple submitters SIN3A-related intellectual disability syndrome
- p.Arg537Ter Multiple submitters
- p.Arg897Ter Multiple submitters
- p.Lys937fs Multiple submitters SIN3A-related disorder
- p.Tyr1105Ter Multiple submitters Inborn genetic diseases
- c.2094-1G>T Single submitter
- c.3384dup Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.366+1G>T Single submitter
- c.473+2T>A Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.474-574_1408-735dup Single submitter
- p.Ala455fs Single submitter Inborn genetic diseases
- p.Ala847fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg1134fs Single submitter
- p.Arg167fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg340fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg707Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg922Ter Single submitter
- p.Asn890fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Asp845fs Single submitter
- p.Gln1009Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln1040fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln116Ter Single submitter Inborn genetic diseases
- p.Gln117Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln255fs Single submitter
- p.Gln336Ter Single submitter
- p.Gln339Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln604Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln637Ter Single submitter
- p.Gln827fs Single submitter Inborn genetic diseases
- p.Gln8fs Single submitter
- p.Gln900Ter Single submitter Paediatric disorders
- p.Gln944Ter Single submitter Inborn genetic diseases
- p.Glu1103Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Glu375fs Single submitter
- p.Glu526fs Single submitter Inborn genetic diseases
- p.Glu754fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Glu836Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.His214fs Single submitter
- p.His283fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.His731fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.His817fs Single submitter
- p.Leu290Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Leu380fs Single submitter
- p.Leu388fs Single submitter
- p.Leu514Ter Single submitter
- p.Leu876fs Single submitter
- p.Leu876Ter Single submitter
- p.Lys326fs Single submitter
- p.Lys410fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Lys638Ter Single submitter
- p.Phe507fs Single submitter
- p.Pro222fs Single submitter
- p.Pro88_Thr89delinsIleThrSerTer Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Ser1161fs Single submitter Inborn genetic diseases
- p.Ser748delinsProHisTer Single submitter SIN3A-related intellectual disability syndrome
- p.Ser977fs Single submitter Inborn genetic diseases
- p.Ser982fs Single submitter
- p.Trp517Ter Single submitter
- p.Trp591Ter Single submitter
- p.Trp892Ter Single submitter
- p.Tyr335_Lys337delinsTer Single submitter SIN3A-related disorder
- p.Tyr565delinsTrpAlaLeuLeuTrpArgTer Single submitter
- p.Tyr673Ter Single submitter
- p.Tyr979Ter Single submitter Inborn genetic diseases
- p.Val504fs Single submitter
- p.Val58fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Val81fs Single submitter Inborn genetic diseases
- p.Arg1104Ter No assertion criteria SIN3A-related intellectual disability syndrome due to a point mutation
- p.Leu269fs No assertion criteria SIN3A-related intellectual disability syndrome due to a point mutation
- p.Ser587fs No assertion criteria SIN3A-related intellectual disability syndrome due to a point mutation
Pathogenic/Likely pathogenic 9
- p.Arg553Ter Multiple submitters Inborn genetic diseases
- p.Arg559Ter Multiple submitters SIN3A-related disorder
- p.Arg718Ter Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg935Ter Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- p.Asp323fs Multiple submitters SIN3A-related disorder
- p.Gln785fs Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- p.Lys948fs Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- p.Glu985fs No assertion criteria SIN3A-related intellectual disability syndrome due to a point mutation
- p.Tyr1101Ter No assertion criteria
Likely pathogenic 42
- c.1526+1G>T Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.1527-2A>C Single submitter
- c.1527-2A>T Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.1738-1G>A Single submitter
- c.1855-13_1874inv Single submitter
- c.2094-1G>A Single submitter
- c.2277+4A>G Single submitter
- c.366+5T>C Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.367-2A>C Single submitter
- c.474-1G>A Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.474-1G>T Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg616Cys Single submitter ⚠
- p.Arg984fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Asn1158fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln1137Ter Single submitter
- p.Gln195Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln217fs Single submitter SIN3A-related disorder
- p.Gln255Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln426Glu Single submitter ⚠
- p.Gln761fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln827Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Glu914Ter Single submitter chromosome 15q24 deletion syndrome
- p.Gly1150fs Single submitter SIN3A-related disorder
- p.His85delinsSerSerTer Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Ile1016fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Leu669His Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Leu669Phe Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Leu793Pro Single submitter SIN3A-related intellectual disability syndrome
- p.Met1067_Ile1069dup Single submitter
- p.Ser289Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Ser421fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Ser456fs Single submitter
- p.Ser600fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Thr161Ala Single submitter
- p.Thr629Ala Single submitter ⚠
- p.Tyr1174Ter Single submitter SIN3A-related disorder
- p.Tyr1262fs Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Tyr129Ter Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Tyr359Ter Single submitter neurodevelopmental disorder
- p.Val504Asp Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Val851_Lys852insTer Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Val955fs No assertion criteria SIN3A-related disorder
Conflicting classifications of pathogenicity 27
- c.1009-9A>G Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.1317+3G>A Single submitter
- c.2852-6C>T Single submitter
- p.Ala826Gly Single submitter Inborn genetic diseases ⚠
- p.Ala90Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1097His Single submitter ⚠
- p.Arg1201Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1224Cys Single submitter ⚠
- p.Arg928Gln Single submitter Inborn genetic diseases ⚠
- p.Asn751Ser Single submitter Inborn genetic diseases ⚠
- p.Asn855Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1060Gly Single submitter
- p.Asp1215Asn Single submitter Inborn genetic diseases ⚠
- p.Gln207= Single submitter
- p.Glu840Gly Single submitter Inborn genetic diseases ⚠
- p.Gly1034Arg Single submitter Inborn genetic diseases ⚠
- p.Gly206= Single submitter
- p.Gly859Ser Single submitter Inborn genetic diseases ⚠
- p.Ile630Val Single submitter Inborn genetic diseases ⚠
- p.Lys448Arg Single submitter Inborn genetic diseases ⚠
- p.Lys784Arg Single submitter Inborn genetic diseases ⚠
- p.Met452Val Single submitter Inborn genetic diseases ⚠
- p.Pro271= Single submitter
- p.Pro279Ser Single submitter Inborn genetic diseases ⚠
- p.Ser274Pro Single submitter SIN3A-related syndromic intellectual disability ⚠
- p.Thr1218Ser Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Thr292Met Single submitter Inborn genetic diseases ⚠
Benign 24
- c.2278-19T>G Multiple submitters
- c.3592-20T>A Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- c.3592-21T>A Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- c.-34+75G>T Multiple submitters
- p.Ala668= Multiple submitters
- p.Pro279Leu Multiple submitters
- c.1161+12dup Single submitter
- c.1161+19A>G Single submitter
- c.2094-10G>T Single submitter
- c.2277+7G>T Single submitter
- c.2278-5A>G Single submitter
- c.3384-19C>T Single submitter
- c.3384-6C>T Single submitter
- c.3592-12del Single submitter
- c.757-9del Single submitter
- p.Ala1212= Single submitter
- p.Ala477= Single submitter
- p.Ala913= Single submitter
- p.Asn1158Ser Single submitter
- p.Glu42= Single submitter
- p.Lys569= Single submitter
- p.Pro176= Single submitter
- p.Pro187= Single submitter
- p.Pro861= Single submitter
Benign/Likely benign 9
- c.1855-7T>A Multiple submitters
- c.3195+8T>G Multiple submitters
- c.474-6dup Multiple submitters
- p.Ala780= Multiple submitters
- p.Gly1031= Multiple submitters
- p.Ile288Val Multiple submitters
- p.Ile314= Multiple submitters
- p.Met1156Leu Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- p.Ser476= Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
Likely benign 252
- c.1408-20C>T Multiple submitters
- c.1527-6C>A Multiple submitters Inborn genetic diseases
- c.2277+7G>A Multiple submitters
- p.Ala1032= Multiple submitters
- p.Ala126= Multiple submitters
- p.Ala273= Multiple submitters
- p.Ala961= Multiple submitters
- p.Asn183= Multiple submitters
- p.Asn414= Multiple submitters
- p.Gln1137= Multiple submitters
- p.Gln412= Multiple submitters
- p.Glu1146= Multiple submitters
- p.Glu837= Multiple submitters
- p.Ile159= Multiple submitters
- p.Ile672Leu Multiple submitters Inborn genetic diseases
- p.Leu1130= Multiple submitters
- p.Leu127= Multiple submitters
- p.Leu332= Multiple submitters
- p.Leu365= Multiple submitters
- p.Leu380= Multiple submitters
- p.Leu444= Multiple submitters
- p.Pro270Ala Multiple submitters Inborn genetic diseases
- p.Pro279= Multiple submitters
- p.Pro76= Multiple submitters
- p.Ser590= Multiple submitters
- p.Thr1190= Multiple submitters
- p.Thr1253= Multiple submitters
- p.Thr350Ser Multiple submitters Inborn genetic diseases
- p.Val208= Multiple submitters
- c.1008+14A>G Single submitter
- c.1009-18T>G Single submitter
- c.1009-5C>A Single submitter
- c.1161+12T>A Single submitter
- c.1161+15T>C Single submitter
- c.1162-19A>T Single submitter
- c.1162-20C>T Single submitter
- c.1318-15A>G Single submitter
- c.1318-18T>G Single submitter
- c.1407+19A>G Single submitter
- c.1408-14G>A Single submitter
- c.1408-5A>G Single submitter
- c.1527-18T>C Single submitter
- c.1527-19T>C Single submitter
- c.1527-20T>C Single submitter
- c.1737+10T>C Single submitter
- c.1737+8C>T Single submitter
- c.1737+9T>G Single submitter
- c.1738-17TCT[2] Single submitter
- c.1855-20T>C Single submitter
- c.1855-6C>T Single submitter
- c.189+16C>G Single submitter
- c.189+17C>T Single submitter
- c.189+18A>G Single submitter
- c.189+19A>G Single submitter
- c.189+20G>A Single submitter
- c.190-11G>T Single submitter
- c.2093+15G>A Single submitter
- c.2093+16T>C Single submitter
- c.2093+18C>T Single submitter
- c.2094-10G>A Single submitter
- c.2094-11C>T Single submitter
- c.2094-6C>T Single submitter
- c.2277+12G>A Single submitter
- c.2277+20A>G Single submitter
- c.2277+7G>C Single submitter
- c.2278-14C>G Single submitter
- c.2278-17T>C Single submitter
- c.2278-20T>C Single submitter
- c.2278-8C>A Single submitter
- c.2851+11A>T Single submitter
- c.2851+9C>T Single submitter
- c.2852-18A>G Single submitter
- c.3021+17G>A Single submitter
- c.3021+20T>C Single submitter
- c.3021+6G>C Single submitter
- c.3021+7G>A Single submitter
- c.3021+7G>C Single submitter
- c.3021+8C>T Single submitter
- c.3022-16C>G Single submitter
- c.3022-20T>C Single submitter
- c.3195+13C>T Single submitter
- c.3383+17A>G Single submitter
- c.3383+7G>A Single submitter
- c.3384-18G>A Single submitter
- c.3591+16_3591+17del Single submitter
- c.3592-11_3592-10del Single submitter
- c.3592-11C>G Single submitter
- c.3592-13_3592-10del Single submitter
- c.3592-19T>A Single submitter
- c.3592-20T>G Single submitter
- c.3592-21_3592-20inv Single submitter
- c.3592-5T>C Single submitter
- c.473+10G>A Single submitter
- c.474-14T>G Single submitter
- c.474-16_474-13del Single submitter
- c.756+12G>C Single submitter
- c.757-13C>A Single submitter
- c.757-13C>G Single submitter
- c.757-16T>C Single submitter
- c.757-4C>G Single submitter
- p.Ala1191= Single submitter
- p.Ala1227= Single submitter
- p.Ala14= Single submitter
- p.Ala235= Single submitter
- p.Ala237= Single submitter
- p.Ala258= Single submitter
- p.Ala360= Single submitter
- p.Ala51= Single submitter
- p.Ala674= Single submitter
- p.Ala709= Single submitter
- p.Ala826= Single submitter
- p.Arg1131= Single submitter
- p.Arg167= Single submitter
- p.Arg428= Single submitter
- p.Arg429= Single submitter
- p.Arg475= Single submitter
- p.Arg915= Single submitter
- p.Arg922= Single submitter
- p.Asn1029= Single submitter
- p.Asn1041= Single submitter
- p.Asn145Asp Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Asn197= Single submitter
- p.Asn197Ser Single submitter Inborn genetic diseases
- p.Asn299= Single submitter
- p.Asn655Ser Single submitter Inborn genetic diseases
- p.Asn855= Single submitter
- p.Asn884= Single submitter
- p.Asn889= Single submitter
- p.Asp1022= Single submitter
- p.Asp957= Single submitter
- p.Cys1136= Single submitter
- p.Cys1245= Single submitter
- p.Gln17= Single submitter
- p.Gln225= Single submitter
- p.Gln233= Single submitter
- p.Gln378= Single submitter
- p.Gln604= Single submitter
- p.Gln670= Single submitter
- p.Gln874= Single submitter
- p.Gln978= Single submitter
- p.Glu1055= Single submitter
- p.Glu1141= Single submitter
- p.Glu540= Single submitter
- p.Glu835= Single submitter
- p.Glu9= Single submitter
- p.Glu929= Single submitter
- p.Gly181= Single submitter
- p.Gly22= Single submitter
- p.Gly460= Single submitter
- p.Gly523= Single submitter
- p.Gly712= Single submitter
- p.Gly774= Single submitter
- p.Gly859= Single submitter
- p.His31= Single submitter
- p.His333= Single submitter
- p.His665= Single submitter
- p.His74= Single submitter
- p.His776= Single submitter
- p.His817= Single submitter
- p.His94= Single submitter
- p.His990= Single submitter
- p.Ile636= Single submitter
- p.Ile756= Single submitter
- p.Ile943= Single submitter
- p.Leu1045= Single submitter
- p.Leu1119= Single submitter
- p.Leu1171= Single submitter
- p.Leu1234= Single submitter
- p.Leu1239= Single submitter
- p.Leu135= Single submitter
- p.Leu484= Single submitter
- p.Leu514= Single submitter
- p.Leu554= Single submitter
- p.Leu653= Single submitter
- p.Leu699= Single submitter
- p.Leu726= Single submitter
- p.Leu744= Single submitter
- p.Leu779= Single submitter
- p.Leu867= Single submitter
- p.Leu931= Single submitter
- p.Leu945= Single submitter
- p.Leu983= Single submitter
- p.Lys1216= Single submitter
- p.Lys639= Single submitter
- p.Lys727= Single submitter
- p.Lys806= Single submitter
- p.Lys811= Single submitter
- p.Lys865= Single submitter
- p.Met67Val Single submitter Inborn genetic diseases
- p.Phe1064= Single submitter
- p.Phe1169= Single submitter
- p.Pro11= Single submitter
- p.Pro1223= Single submitter
- p.Pro222= Single submitter
- p.Pro223= Single submitter
- p.Pro224= Single submitter
- p.Pro236= Single submitter
- p.Pro245= Single submitter
- p.Pro246= Single submitter
- p.Pro247Thr Single submitter
- p.Pro253= Single submitter
- p.Pro261= Single submitter
- p.Pro270= Single submitter
- p.Pro271Leu Single submitter Inborn genetic diseases
- p.Pro278= Single submitter
- p.Pro417= Single submitter
- p.Pro417Ser Single submitter Inborn genetic diseases
- p.Pro431= Single submitter
- p.Pro568= Single submitter
- p.Pro68= Single submitter
- p.Pro68Ser Single submitter
- p.Ser1044= Single submitter
- p.Ser1112= Single submitter
- p.Ser231= Single submitter
- p.Ser254= Single submitter
- p.Ser289= Single submitter
- p.Ser295= Single submitter
- p.Ser386= Single submitter
- p.Ser464= Single submitter
- p.Ser600= Single submitter
- p.Ser689= Single submitter
- p.Ser911= Single submitter
- p.Ser968= Single submitter
- p.Thr1033= Single submitter
- p.Thr1049= Single submitter
- p.Thr1246= Single submitter
- p.Thr1247= Single submitter
- p.Thr287= Single submitter
- p.Thr292= Single submitter
- p.Thr47= Single submitter
- p.Thr52= Single submitter
- p.Thr532= Single submitter
- p.Tyr1101= Single submitter
- p.Tyr1185= Single submitter
- p.Tyr1266= Single submitter
- p.Tyr129= Single submitter
- p.Tyr335= Single submitter
- p.Tyr533= Single submitter
- p.Tyr725= Single submitter
- p.Tyr810= Single submitter
- p.Val1018= Single submitter
- p.Val12= Single submitter
- p.Val302= Single submitter
- p.Val663= Single submitter
- p.Val692= Single submitter
- p.Val773= Single submitter
- p.Val798= Single submitter
- p.Val834= Single submitter
- p.Val98= Single submitter
- p.Arg1134= No assertion criteria SIN3A-related disorder
- p.Gln1121= No assertion criteria SIN3A-related disorder
- p.Ser169= No assertion criteria SIN3A-related disorder
Uncertain significance 379
Showing the top 300 by review status; the full set is in the sitemap.
- c.1407+4A>G Multiple submitters
- c.757-25_757-9del Multiple submitters
- p.Ala242Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1132Gln Multiple submitters ⚠
- p.Arg1205His Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg19Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg471Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn1151Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn414Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asp975Asn Multiple submitters SIN3A-related disorder ⚠
- p.Gln1208His Multiple submitters Inborn genetic diseases ⚠
- p.Gly72Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly733Arg Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Gly829Arg Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Gly96Ser Multiple submitters Inborn genetic diseases ⚠
- p.His458_Gly459delinsArg Multiple submitters
- p.His458Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile1016Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile1079Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile636Leu Multiple submitters Inborn genetic diseases ⚠
- p.Leu1025Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1239Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu474Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys1164Arg Multiple submitters ⚠
- p.Lys173Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys578Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met1067Thr Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Met965Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe895Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro212Leu Multiple submitters ⚠
- p.Pro246Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro417Leu Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Pro772Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser1112Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser228Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser228Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser451Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser71Phe Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Thr462Lys Multiple submitters ⚠
- p.Thr52Met Multiple submitters SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Thr89Ala Multiple submitters Inborn genetic diseases ⚠
- p.Trp1213Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val1102Met Multiple submitters ⚠
- p.Val33Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val387Met Multiple submitters Inborn genetic diseases ⚠
- c.1854+30_1854+32del Single submitter Inborn genetic diseases
- c.2093+3A>G Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.2277+6C>T Single submitter
- c.2277+9G>A Single submitter SIN3A-related intellectual disability syndrome
- c.3021+3G>T Single submitter
- c.3383+6T>C Single submitter
- c.3384-4A>G Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.3591+3G>A Single submitter
- c.3591+4A>G Single submitter
- c.3592-21_3592-19inv Single submitter
- c.3592-21_3592-20delinsAG Single submitter
- c.473+4A>G Single submitter
- c.757-22T>G Single submitter Inborn genetic diseases
- c.-34+1del Single submitter
- c.-34G>C Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- c.*13A>G Single submitter
- p.Ala1032Ser Single submitter ⚠
- p.Ala103Thr Single submitter ⚠
- p.Ala110Thr Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Ala1120Gly Single submitter SIN3A-related intellectual disability syndrome ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala232Val Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Ala248Val Single submitter ⚠
- p.Ala273Val Single submitter ⚠
- p.Ala360Val Single submitter Inborn genetic diseases ⚠
- p.Ala477Val Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Ala479Ser Single submitter ⚠
- p.Ala498Val Single submitter ⚠
- p.Ala635_Ile636del Single submitter
- p.Ala678Thr Single submitter Inborn genetic diseases ⚠
- p.Ala678Val Single submitter ⚠
- p.Ala780Val Single submitter ⚠
- p.Ala790Val Single submitter
- p.Ala847Val Single submitter Inborn genetic diseases ⚠
- p.Ala90Val Single submitter ⚠
- p.Arg1006Ser Single submitter ⚠
- p.Arg1052Trp Single submitter ⚠
- p.Arg1097Cys Single submitter ⚠
- p.Arg1104Leu Single submitter ⚠
- p.Arg1116Cys Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Arg1131Gln Single submitter ⚠
- p.Arg1131Trp Single submitter ⚠
- p.Arg1132Trp Single submitter
- p.Arg1140Pro Single submitter Inborn genetic diseases ⚠
- p.Arg1194Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1201His Single submitter ⚠
- p.Arg1205Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1224His Single submitter ⚠
- p.Arg1263Cys Single submitter ⚠
- p.Arg167His Single submitter ⚠
- p.Arg167Pro Single submitter ⚠
- p.Arg19Gln Single submitter Inborn genetic diseases ⚠
- p.Arg3= Single submitter
- p.Arg364Gly Single submitter ⚠
- p.Arg364His Single submitter ⚠
- p.Arg3Trp Single submitter ⚠
- p.Arg428Cys Single submitter ⚠
- p.Arg428Leu Single submitter ⚠
- p.Arg475Gln Single submitter ⚠
- p.Arg475Trp Single submitter ⚠
- p.Arg485Cys Single submitter
- p.Arg485His Single submitter ⚠
- p.Arg4His Single submitter ⚠
- p.Arg631Gln Single submitter ⚠
- p.Arg631Trp Single submitter ⚠
- p.Arg642Cys Single submitter
- p.Arg652Ser Single submitter ⚠
- p.Arg671Thr Single submitter Inborn genetic diseases ⚠
- p.Arg698Lys Single submitter ⚠
- p.Arg707Gln Single submitter ⚠
- p.Arg877Gly Single submitter Inborn genetic diseases ⚠
- p.Arg908Gln Single submitter ⚠
- p.Arg908Trp Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Arg928Trp Single submitter ⚠
- p.Arg967Gln Single submitter ⚠
- p.Arg967Trp Single submitter ⚠
- p.Asn1028Asp Single submitter ⚠
- p.Asn1030del Single submitter
- p.Asn1030Ile Single submitter ⚠
- p.Asn1038Asp Single submitter ⚠
- p.Asn1088His Single submitter ⚠
- p.Asn1151Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1151Ser Single submitter ⚠
- p.Asn201Ser Single submitter ⚠
- p.Asn316His Single submitter ⚠
- p.Asn348Lys Single submitter Inborn genetic diseases ⚠
- p.Asn348Ser Single submitter ⚠
- p.Asn402Asp Single submitter ⚠
- p.Asn482Ser Single submitter ⚠
- p.Asn735Ser Single submitter Inborn genetic diseases ⚠
- p.Asn870Ser Single submitter ⚠
- p.Asn890Ser Single submitter Inborn genetic diseases ⚠
- p.Asn891Ser Single submitter Inborn genetic diseases ⚠
- p.Asn973Asp Single submitter ⚠
- p.Asp1014Asn Single submitter ⚠
- p.Asp1060Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1083Glu Single submitter ⚠
- p.Asp1100His Single submitter ⚠
- p.Asp1163Asn Single submitter ⚠
- p.Asp1163Tyr Single submitter ⚠
- p.Asp131Glu Single submitter ⚠
- p.Asp177Asn Single submitter ⚠
- p.Asp323Asn Single submitter ⚠
- p.Asp468Val Single submitter
- p.Asp654Gly Single submitter
- p.Asp783Gly Single submitter Inborn genetic diseases ⚠
- p.Asp7Ala Single submitter ⚠
- p.Asp830Tyr Single submitter ⚠
- p.Asp833Val Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Asp843Asn Single submitter Inborn genetic diseases ⚠
- p.Asp939Glu Single submitter SIN3A-related disorder ⚠
- p.Asp954Val Single submitter ⚠
- p.Asp971Val Single submitter Inborn genetic diseases ⚠
- p.Cys1063Arg Single submitter ⚠
- p.Cys1245_Thr1246delinsTrpSer Single submitter
- p.Cys1245Arg Single submitter ⚠
- p.Cys486Arg Single submitter ⚠
- p.Cys910Phe Single submitter Inborn genetic diseases ⚠
- p.Gln1007Arg Single submitter ⚠
- p.Gln1121Arg Single submitter ⚠
- p.Gln1142Arg Single submitter ⚠
- p.Gln1142His Single submitter ⚠
- p.Gln1143Pro Single submitter ⚠
- p.Gln1197= Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gln1197Arg Single submitter ⚠
- p.Gln140His Single submitter Inborn genetic diseases ⚠
- p.Gln17Arg Single submitter ⚠
- p.Gln207Glu Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Gln217Pro Single submitter ⚠
- p.Gln219Arg Single submitter ⚠
- p.Gln219Leu Single submitter ⚠
- p.Gln233Pro Single submitter ⚠
- p.Gln257Pro Single submitter ⚠
- p.Gln297Glu Single submitter ⚠
- p.Gln30Arg Single submitter ⚠
- p.Gln336His Single submitter ⚠
- p.Gln426Arg Single submitter Inborn genetic diseases ⚠
- p.Gln492Lys Single submitter ⚠
- p.Gln566Pro Single submitter Inborn genetic diseases ⚠
- p.Gln801His Single submitter ⚠
- p.Gln874Glu Single submitter Inborn genetic diseases ⚠
- p.Gln900His Single submitter Inborn genetic diseases ⚠
- p.Gln916His Single submitter ⚠
- p.Gln92Arg Single submitter ⚠
- p.Gln978Leu Single submitter ⚠
- p.Glu1047Gly Single submitter ⚠
- p.Glu1087Lys Single submitter ⚠
- p.Glu1166Gly Single submitter
- p.Glu1252Lys Single submitter Inborn genetic diseases ⚠
- p.Glu153Gln Single submitter ⚠
- p.Glu478Gly Single submitter Inborn genetic diseases ⚠
- p.Glu481Lys Single submitter ⚠
- p.Glu493Gln Single submitter ⚠
- p.Glu545Val Single submitter ⚠
- p.Glu647Lys Single submitter ⚠
- p.Glu662Gly Single submitter ⚠
- p.Glu662Lys Single submitter ⚠
- p.Glu838Lys Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Glu914Lys Single submitter ⚠
- p.Glu919Asp Single submitter ⚠
- p.Glu919Gly Single submitter
- p.Gly1267Ser Single submitter ⚠
- p.Gly291Val Single submitter ⚠
- p.Gly424Cys Single submitter ⚠
- p.Gly509Arg Single submitter Inborn genetic diseases ⚠
- p.Gly523Asp Single submitter ⚠
- p.Gly572Val Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Gly72Cys Single submitter Inborn genetic diseases ⚠
- p.Gly75Glu Single submitter ⚠
- p.Gly770= Single submitter SIN3A-related intellectual disability syndrome due to a point mutation
- p.Gly770Asp Single submitter ⚠
- p.Gly774Arg Single submitter ⚠
- p.Gly856Arg Single submitter ⚠
- p.Gly972Val Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.His1010Tyr Single submitter
- p.His1118Arg Single submitter ⚠
- p.His1118Tyr Single submitter Inborn genetic diseases ⚠
- p.His1207Arg Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.His259Pro Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.His29Pro Single submitter ⚠
- p.His31Arg Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.His665Arg Single submitter ⚠
- p.Ile1133Val Single submitter ⚠
- p.Ile636Met Single submitter ⚠
- p.Ile681Thr Single submitter ⚠
- p.Ile812Val Single submitter ⚠
- p.Ile820Leu Single submitter ⚠
- p.Leu1045Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1162Met Single submitter ⚠
- p.Leu135Val Single submitter ⚠
- p.Leu290Trp Single submitter ⚠
- p.Leu365Val Single submitter ⚠
- p.Leu444Pro Single submitter ⚠
- p.Leu530Met Single submitter Inborn genetic diseases ⚠
- p.Leu619Phe Single submitter ⚠
- p.Leu669Ile Single submitter ⚠
- p.Leu867Val Single submitter ⚠
- p.Lys1145Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1145Glu Single submitter Inborn genetic diseases ⚠
- p.Lys1148Glu Single submitter ⚠
- p.Lys1153Asn Single submitter ⚠
- p.Lys1170Asn Single submitter ⚠
- p.Lys1265Arg Single submitter ⚠
- p.Lys315Arg Single submitter ⚠
- p.Lys391Arg Single submitter Inborn genetic diseases ⚠
- p.Lys519Glu Single submitter ⚠
- p.Lys525Glu Single submitter ⚠
- p.Lys569Arg Single submitter ⚠
- p.Lys650Arg Single submitter ⚠
- p.Lys650Thr Single submitter ⚠
- p.Lys784Glu Single submitter ⚠
- p.Lys863Gln Single submitter ⚠
- p.Lys865Thr Single submitter ⚠
- p.Lys937Glu Single submitter ⚠
- p.Lys948Arg Single submitter ⚠
- p.Lys948Glu Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Lys999Arg Single submitter ⚠
- p.Met1106Ile Single submitter ⚠
- p.Met1106Val Single submitter ⚠
- p.Met1226Val Single submitter Inborn genetic diseases ⚠
- p.Met1235Ile Single submitter Inborn genetic diseases ⚠
- p.Met180Val Single submitter ⚠
- p.Met48Val Single submitter ⚠
- p.Met816Thr Single submitter ⚠
- p.Met842Thr Single submitter ⚠
- p.Met879Thr Single submitter Inborn genetic diseases ⚠
- p.Met951Thr Single submitter ⚠
- p.Met986Val Single submitter ⚠
- p.Met997Val Single submitter Inborn genetic diseases ⚠
- p.Phe466Cys Single submitter ⚠
- p.Phe507Leu Single submitter ⚠
- p.Phe507Ser Single submitter Inborn genetic diseases ⚠
- p.Phe588Leu Single submitter ⚠
- p.Phe597Val Single submitter ⚠
- p.Phe819Val Single submitter ⚠
- p.Pro212Ala Single submitter ⚠
- p.Pro238Ala Single submitter ⚠
- p.Pro243_Gln244insProGlnProAlaPro Single submitter
- p.Pro261Leu Single submitter ⚠
- p.Pro267Ala Single submitter ⚠
- p.Pro267Ser Single submitter ⚠
- p.Pro294Ser Single submitter ⚠
- p.Pro301Thr Single submitter ⚠
- p.Pro351Ser Single submitter SIN3A-related intellectual disability syndrome due to a point mutation ⚠
- p.Pro36His Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Pro39His Single submitter ⚠
- p.Pro417Gly Single submitter
- p.Pro431Arg Single submitter Inborn genetic diseases ⚠
- p.Pro442Ser Single submitter ⚠
- p.Pro775Ser Single submitter Inborn genetic diseases
- p.Pro861Arg Single submitter ⚠