Sugi Variant

Sugi Variant/SYNGAP1

SYNGAP1 — 1903 ClinVar variants

All ClinVar germline SYNGAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 648 flagged for review →

287 Pathogenic · 31 Pathogenic/Likely pathogenic · 122 Likely pathogenic · 116 Conflicting · 115 Benign · 48 Benign/Likely benign · 582 Likely benign · 602 Uncertain significance

Full SYNGAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 648

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 8

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 63

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

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.

Predictors lean, ClinVar uncertain 359

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 359

Predictors split 217

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 217

All SYNGAP1 variants

Pathogenic 287

  • c.2294+1G>T Multiple submitters intellectual disability, autosomal dominant 5
  • p.Val992fs Multiple submitters intellectual disability, autosomal dominant 5
  • c.3583-9G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.509+1G>A Multiple submitters Inborn genetic diseases
  • p.Lys277fs Multiple submitters SYNGAP1-related disorder
  • p.Ala123fs Multiple submitters epilepsy
  • p.Arg1240Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg135Ter Multiple submitters Inborn genetic diseases
  • p.Arg143Ter Multiple submitters SYNGAP1-related disorder
  • p.Arg31Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg485fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg544Ter Multiple submitters Inborn genetic diseases
  • p.Arg579Ter Multiple submitters Inborn genetic diseases
  • p.Arg621Ter Multiple submitters SYNGAP1-related disorder
  • p.Arg775Ter Multiple submitters Seizure
  • p.Arg922Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg967Ter Multiple submitters SYNGAP1-related disorder
  • p.Asn1090fs Multiple submitters SYNGAP1-related disorder
  • p.Asp868fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Asp974fs Multiple submitters Inborn genetic diseases
  • p.Gln1093Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln1229Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln1236Ter Multiple submitters Inborn genetic diseases
  • p.Gln130Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln247Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln702Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln919Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Glu313Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Glu512Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Glu582fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly1060fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly1061fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly373Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly382Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly388fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly391fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu595fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu813fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu925fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Lys114fs Multiple submitters Inborn genetic diseases
  • p.Lys277fs Multiple submitters SYNGAP1-related disorder
  • p.Phe218fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Phe932fs Multiple submitters Developmental disorder
  • p.Pro796fs Multiple submitters Inborn genetic diseases
  • p.Ser1047fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Thr1140fs Multiple submitters Inborn genetic diseases
  • p.Thr144fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Trp1157Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Trp572Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Tyr428Ter Multiple submitters Inborn genetic diseases
  • p.Gly391fs Single submitter intellectual disability, autosomal dominant 5
  • c.1676+1G>C Single submitter Inborn genetic diseases
  • c.1676+5G>A Single submitter intellectual disability, autosomal dominant 5
  • c.1677-3C>G Single submitter intellectual disability, autosomal dominant 5
  • c.190-2A>C Single submitter intellectual disability, autosomal dominant 5
  • c.190-2A>G Single submitter intellectual disability, autosomal dominant 5
  • c.1913+2T>G Single submitter
  • c.1914-1G>T Single submitter intellectual disability, autosomal dominant 5
  • c.2115+1G>C Single submitter intellectual disability, autosomal dominant 5
  • c.2115+89_2116-2del Single submitter intellectual disability, autosomal dominant 5
  • c.2116-1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.2294+2T>A Single submitter intellectual disability, autosomal dominant 5
  • c.3408+1G>A Single submitter Inborn genetic diseases
  • c.3408+1G>C Single submitter intellectual disability, autosomal dominant 5
  • c.3794+1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.3795-1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.387+1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.388-1G>C Single submitter
  • c.388-2del Single submitter intellectual disability, autosomal dominant 5
  • c.510-2A>G Single submitter Inborn genetic diseases
  • c.663+2T>C Single submitter
  • c.664-2A>G Single submitter
  • c.762+1G>T Single submitter intellectual disability, autosomal dominant 5
  • c.763-1G>A Single submitter
  • p.Ala1045fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1102fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1150_Ser1151insTer Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1279fs Single submitter intellectual disability
  • p.Ala15fs Single submitter Inborn genetic diseases
  • p.Ala249fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ala271Asp Single submitter intellectual disability, autosomal dominant 5
  • p.Ala433fs Single submitter
  • p.Ala819fs Single submitter
  • p.Ala864fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ala902fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg1019fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg106fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg10fs Single submitter
  • p.Arg135fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg162Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg162fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg234fs Single submitter Inborn genetic diseases
  • p.Arg293fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg299fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg499fs Single submitter Inborn genetic diseases
  • p.Arg579fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg587fs Single submitter Inborn genetic diseases
  • p.Arg890fs Single submitter intellectual disability, autosomal dominant 5
  • p.Arg93fs Single submitter intellectual disability, autosomal dominant 5
  • p.Asn1145fs Single submitter intellectual disability, autosomal dominant 5
  • p.Asn253fs Single submitter SYNGAP1-related disorder
  • p.Asn635fs Single submitter intellectual disability, autosomal dominant 5
  • p.Asp1016Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Asp1026fs Single submitter intellectual disability, autosomal dominant 5
  • p.Asp240fs Single submitter
  • p.Asp255fs Single submitter intellectual disability, autosomal dominant 5
  • p.Asp261fs Single submitter intellectual disability, autosomal dominant 5
  • p.Cys282Arg Single submitter intellectual disability, autosomal dominant 5
  • p.Cys524Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Cys547Tyr Single submitter intellectual disability, autosomal dominant 5
  • p.Cys576Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln1021Ter Single submitter
  • p.Gln1042Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln1064fs Single submitter
  • p.Gln1064Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln1069Ter Single submitter Inborn genetic diseases
  • p.Gln1075_Leu1076insTer Single submitter
  • p.Gln1082Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln1106Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln1107Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln1139fs Single submitter
  • p.Gln1251Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln1252Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln147fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gln216Ter Single submitter
  • p.Gln33fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gln407fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gln456Ter Single submitter
  • p.Gln540Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln631Ter Single submitter Inborn genetic diseases
  • p.Gln662Ter Single submitter
  • p.Gln737Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln744fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gln744Ter Single submitter
  • p.Gln832Ter Single submitter
  • p.Gln847fs Single submitter
  • p.Gln847Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gln874Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu1169Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu1197fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu119fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu1201fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu1227fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu1228fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu1271Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu202fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu238Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu310Gly Single submitter intellectual disability, autosomal dominant 5
  • p.Glu313fs Single submitter neurodevelopmental disorder
  • p.Glu360fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu415Ter Single submitter
  • p.Glu522fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu522Ter Single submitter Inborn genetic diseases
  • p.Glu525_Val526insTer Single submitter intellectual disability, autosomal dominant 5
  • p.Glu739Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu75Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu792fs Single submitter Inborn genetic diseases
  • p.Glu829Lys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly1048fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1113fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1117fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1120fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1124Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1126fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly120fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly309fs Single submitter
  • p.Gly341fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly376fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly380fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly396fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly712fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly940fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gly943fs Single submitter intellectual disability, autosomal dominant 5
  • p.His1203fs Single submitter intellectual disability, autosomal dominant 5
  • p.His181fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ile1173fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ile1263fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ile501fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu1092fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu1224fs Single submitter Inborn genetic diseases
  • p.Leu137fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu150fs Single submitter Inborn genetic diseases
  • p.Leu160fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu317fs Single submitter
  • p.Leu345_Val346insTer Single submitter intellectual disability, autosomal dominant 5
  • p.Leu353fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu367fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu412fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu435fs Single submitter
  • p.Leu482fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu489fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu500Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Leu574fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu598fs Single submitter
  • p.Leu623fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu653Pro Single submitter
  • p.Leu67fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu689fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu692Gln Single submitter intellectual disability, autosomal dominant 5
  • p.Leu696fs Single submitter intellectual disability
  • p.Leu786fs Single submitter Inborn genetic diseases
  • p.Leu855fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu906fs Single submitter intellectual disability, autosomal dominant 5
  • p.Lys1072fs Single submitter intellectual disability, autosomal dominant 5
  • p.Lys1135fs Single submitter intellectual disability, autosomal dominant 5
  • p.Lys1179Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Lys1185Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Lys1215fs Single submitter Inborn genetic diseases
  • p.Lys138Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Lys145fs Single submitter intellectual disability, autosomal dominant 5
  • p.Lys334fs Single submitter intellectual disability, autosomal dominant 5
  • p.Lys418fs Single submitter intellectual disability, autosomal dominant 5
  • p.Met1211fs Single submitter intellectual disability, autosomal dominant 5
  • p.Met289fs Single submitter intellectual disability, autosomal dominant 5
  • p.Met29fs Single submitter intellectual disability, autosomal dominant 5
  • p.Met414fs Single submitter
  • p.Met498fs Single submitter intellectual disability, autosomal dominant 5
  • p.Met909fs Single submitter intellectual disability, autosomal dominant 5
  • p.Phe156fs Single submitter
  • p.Phe177fs Single submitter intellectual disability, autosomal dominant 5
  • p.Phe608fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro1065fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro1084fs Single submitter
  • p.Pro1326fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro398fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro42fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro745fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro787fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro797fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro798fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro851fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro930fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser1013fs Single submitter
  • p.Ser1057fs Single submitter
  • p.Ser109fs Single submitter SYNGAP1-related disorder
  • p.Ser1132fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser1170fs Single submitter microcephaly
  • p.Ser1244fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser129fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser146Ter Single submitter epilepsy with myoclonic atonic seizures
  • p.Ser182_His183insTer Single submitter
  • p.Ser188fs Single submitter Seizure
  • p.Ser379Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Ser389Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Ser449fs Single submitter
  • p.Ser52Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Ser535fs Single submitter
  • p.Ser571Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Ser765fs Single submitter Inborn genetic diseases
  • p.Ser788fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser817Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Ser840fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser926fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser985fs Single submitter intellectual disability, autosomal dominant 5
  • p.Thr295fs Single submitter intellectual disability, autosomal dominant 5
  • p.Thr352fs Single submitter intellectual disability, autosomal dominant 5
  • p.Thr425fs Single submitter intellectual disability, autosomal dominant 5
  • p.Thr672fs Single submitter intellectual disability, autosomal dominant 5
  • p.Trp308Arg Single submitter
  • p.Trp308Leu Single submitter intellectual disability, autosomal dominant 5
  • p.Trp362Arg Single submitter intellectual disability, autosomal dominant 5
  • p.Trp572Ser Single submitter intellectual disability, autosomal dominant 5
  • p.Trp697Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr1198fs Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr280Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr34Ter Single submitter
  • p.Tyr363Ter Single submitter Inborn genetic diseases
  • p.Tyr39Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr423fs Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr423Ter Single submitter Inborn genetic diseases
  • p.Tyr518_Glu519delinsTer Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr758fs Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr807fs Single submitter
  • p.Tyr982Ter Single submitter Inborn genetic diseases
  • p.Val1078fs Single submitter intellectual disability
  • p.Val365fs Single submitter intellectual disability, autosomal dominant 5
  • p.Val554= Single submitter
  • p.Val747fs Single submitter intellectual disability, autosomal dominant 5
  • p.Val860fs Single submitter intellectual disability, autosomal dominant 5
  • p.Val992fs Single submitter
  • c.3408+1G>T No assertion criteria complex neurodevelopmental disorder
  • c.388-2A>G No assertion criteria intellectual disability, autosomal dominant 5
  • c.510-1G>A No assertion criteria intellectual disability, autosomal dominant 5
  • p.Gln893fs No assertion criteria intellectual disability, autosomal dominant 5
  • p.Leu264_Leu266del No assertion criteria
  • p.Pro562fs No assertion criteria intellectual disability, autosomal dominant 5
  • p.Ser637fs No assertion criteria intellectual disability, autosomal dominant 5

Pathogenic/Likely pathogenic 31

  • c.1532-1G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.1676+1G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.2294+1G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.3583-6G>A Multiple submitters SYNGAP1-related disorder
  • c.388-2A>C Multiple submitters SYNGAP1-related disorder
  • c.509+1G>T Multiple submitters intellectual disability, autosomal dominant 5
  • c.67+1G>T Multiple submitters Inborn genetic diseases
  • c.68-1G>A Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg164Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg170Gln Multiple submitters SYNGAP1-related disorder ⚠
  • p.Arg573Trp Multiple submitters SYNGAP1-related disorder
  • p.Arg687Ter Multiple submitters Atypical behavior
  • p.Cys547_Glu548delinsTer Multiple submitters Inborn genetic diseases
  • p.Cys576Arg Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln1021fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln1025Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln1139Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln158Ter Multiple submitters SYNGAP1-related disorder
  • p.Gln733Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln756Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln920Ter Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln928Ter Multiple submitters intellectual disability
  • p.Glu310Lys Multiple submitters SYNGAP1-related disorder
  • p.Gly344Ser Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu1129fs Multiple submitters SYNGAP1-related disorder
  • p.Leu327Pro Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu633Pro Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro562Leu Multiple submitters SYNGAP1-related disorder
  • p.Ser1108fs Multiple submitters
  • p.Thr790fs Multiple submitters intellectual disability, autosomal dominant 5
  • p.Trp308Cys Multiple submitters intellectual disability

Likely pathogenic 122

  • c.3583-1G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.663+1G>A Multiple submitters SYNGAP1-related disorder
  • p.Gln361Pro Multiple submitters intellectual disability, autosomal dominant 5
  • p.Phe569Ser Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser129= Multiple submitters intellectual disability, autosomal dominant 5
  • c.1386+1G>A Single submitter Inborn genetic diseases
  • c.1387-2del Single submitter
  • c.1531+1del Single submitter
  • c.1532-1G>C Single submitter intellectual disability, autosomal dominant 5
  • c.1677-1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.1677-2A>G Single submitter intellectual disability, autosomal dominant 5
  • c.189+1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.190-11_199del Single submitter intellectual disability, autosomal dominant 5
  • c.1913+1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.1913+1G>C Single submitter intellectual disability, autosomal dominant 5
  • c.1913+2_1913+5del Single submitter intellectual disability, autosomal dominant 5
  • c.1914-1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.2104_2115+14del Single submitter intellectual disability, autosomal dominant 5
  • c.2115+1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.2115+5G>C Single submitter intellectual disability
  • c.2294+1G>C Single submitter intellectual disability, autosomal dominant 5
  • c.2337-1G>A Single submitter intellectual disability, autosomal dominant 5
  • c.3794+2T>C Single submitter Inborn genetic diseases
  • c.3795-1G>C Single submitter intellectual disability, autosomal dominant 5
  • c.3886-1775_*1436del Single submitter Inborn genetic diseases
  • c.504_509+2delinsGACC Single submitter Inborn genetic diseases
  • c.663+1G>T Single submitter intellectual disability, autosomal dominant 5
  • p.Ala192fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ala195Pro Single submitter Epileptic encephalopathy ⚠
  • p.Ala438fs Single submitter
  • p.Ala977fs Single submitter SYNGAP1-related disorder
  • p.Arg1265Thr Single submitter Inborn genetic diseases
  • p.Arg248Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Arg293Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Arg573Gln Single submitter
  • p.Arg573Leu Single submitter Inborn genetic diseases
  • p.Asn256Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Asp287His Single submitter intellectual disability, autosomal dominant 5
  • p.Asp287Tyr Single submitter Inborn genetic diseases
  • p.Asp671fs Single submitter intellectual disability, autosomal dominant 5
  • p.Cys282Ser Single submitter
  • p.Gln1029fs Single submitter intellectual disability, autosomal dominant 5
  • p.Gln1136Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu1009Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu1197Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu179fs Single submitter
  • p.Glu221Val Single submitter intellectual disability, autosomal dominant 5
  • p.Glu283fs Single submitter intellectual disability, autosomal dominant 5
  • p.Glu419Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Glu519Ala Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1051Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly1128_Leu1129insTer Single submitter
  • p.Gly511Arg Single submitter Inborn genetic diseases
  • p.His951Arg Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ile494Arg Single submitter intellectual disability, autosomal dominant 5
  • p.Ile510Ser Single submitter
  • p.Ile899fs Single submitter SYNGAP1-related disorder
  • p.Leu1241fs Single submitter intellectual disability, autosomal dominant 5
  • p.Leu323Arg Single submitter intellectual disability, autosomal dominant 5
  • p.Leu431Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Leu451Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Leu465_Ser466insLeu Single submitter intellectual disability, autosomal dominant 5
  • p.Leu465fs Single submitter
  • p.Leu465Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Leu543Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Leu551Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Leu588His Single submitter
  • p.Leu625fs Single submitter SYNGAP1-related disorder
  • p.Leu696Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Lys1246Ter Single submitter
  • p.Lys142Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Lys418delinsIleTer Single submitter intellectual disability, autosomal dominant 5
  • p.Lys553Ter Single submitter SYNGAP1-related disorder
  • p.Lys642Thr Single submitter intellectual disability, autosomal dominant 5
  • p.Lys705Asn Single submitter ⚠
  • p.Lys994fs Single submitter intellectual disability, autosomal dominant 5
  • p.Met468Lys Single submitter intellectual disability, autosomal dominant 5
  • p.Met498Arg Single submitter
  • p.Met603fs Single submitter
  • p.Met611fs Single submitter SYNGAP1-related disorder
  • p.Met843fs Single submitter
  • p.Phe231fs Single submitter intellectual disability, autosomal dominant 5
  • p.Phe420Ser Single submitter intellectual disability
  • p.Phe569del Single submitter intellectual disability, autosomal dominant 5
  • p.Pro1066Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Pro1067fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro528fs Single submitter intellectual disability, autosomal dominant 5
  • p.Pro715Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Pro751fs Single submitter intellectual disability
  • p.Ser1225fs Single submitter
  • p.Ser12fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser211fs Single submitter intellectual disability, autosomal dominant 5
  • p.Ser235Pro Single submitter intellectual disability, autosomal dominant 5
  • p.Ser668Phe Single submitter
  • p.Ser816fs Single submitter SYNGAP1-related disorder
  • p.Ser842Tyr Single submitter ⚠
  • p.Thr153fs Single submitter SYNGAP1-related disorder
  • p.Thr228fs Single submitter SYNGAP1-related disorder
  • p.Thr294_Ser296delinsIleThrAla Single submitter intellectual disability, autosomal dominant 5
  • p.Thr691Pro Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Thr85fs Single submitter intellectual disability, autosomal dominant 5
  • p.Trp242Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr1006_Ser1007delinsTer Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr1178Ter Single submitter
  • p.Tyr1198Ter Single submitter
  • p.Tyr1237Ter Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr281fs Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr505Asp Single submitter Inborn genetic diseases
  • p.Tyr505His Single submitter intellectual disability, autosomal dominant 5
  • p.Tyr665Ter Single submitter
  • p.Val260_Asp261insTer Single submitter intellectual disability, autosomal dominant 5
  • p.Val350fs Single submitter SYNGAP1-related disorder
  • p.Val568fs Single submitter Delayed speech and language development
  • p.Val699= Single submitter
  • c.1532_1534del No assertion criteria intellectual disability, autosomal dominant 5
  • c.1676+5G>T No assertion criteria complex neurodevelopmental disorder
  • p.Ala232fs No assertion criteria intellectual disability, autosomal dominant 5
  • p.Gln1042fs No assertion criteria SYNGAP1-related disorder
  • p.Glu310Asp No assertion criteria intellectual disability, autosomal dominant 5
  • p.Leu284Pro No assertion criteria SYNGAP1-related disorder
  • p.Leu402Arg No assertion criteria intellectual disability, autosomal dominant 5
  • p.Leu506Pro No assertion criteria intellectual disability, autosomal dominant 5

Conflicting classifications of pathogenicity 116

  • c.1387-8G>A Single submitter Inborn genetic diseases
  • c.1532-3C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1532-5C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1532-6C>T Single submitter Inborn genetic diseases
  • c.1677-4C>G Single submitter Inborn genetic diseases
  • c.1913+5G>A Single submitter intellectual disability, autosomal dominant 5
  • c.3795-7C>G Single submitter intellectual disability, autosomal dominant 5
  • c.388-3C>G Single submitter neurodevelopmental disorder
  • c.388-4C>G Single submitter intellectual disability, autosomal dominant 5
  • c.509+5A>C Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1127Arg Single submitter Inborn genetic diseases ⚠
  • p.1118SGG[1] Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1080Thr Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ala124Val Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ala1279Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1341Thr Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ala438Thr Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ala591Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala601Glu Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg1019Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg1019His Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg1070Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg1208= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg1221Gln Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg1221Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1308Cys Single submitter intellectual disability, autosomal dominant 5
  • p.Arg1338Gln Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg279Trp Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg299Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg299His Single submitter Inborn genetic diseases ⚠
  • p.Arg321Cys Single submitter intellectual disability, autosomal dominant 5
  • p.Arg356Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg405Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg405His Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg41Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg429Trp Single submitter Global developmental delay ⚠
  • p.Arg485= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg575Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg575His Single submitter Inborn genetic diseases ⚠
  • p.Arg581Gln Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg596Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg716Gln Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg732Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg736Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg775Gln Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Arg905Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Asn1213Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn635Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn729Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Asp201Glu Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Asp937= Single submitter intellectual disability, autosomal dominant 5
  • p.Gln908His Single submitter Inborn genetic diseases ⚠
  • p.Glu1286Asp Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Glu1336Lys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Glu273Asp Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Glu495Asp Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Glu654= Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1058Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly1059Arg Single submitter Inborn genetic diseases
  • p.Gly1061Cys Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly1062Arg Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1124Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1125_Gly1128del Single submitter intellectual disability, autosomal dominant 5
  • p.Gly1127Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly112Ala Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly1317Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly1335Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly227Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly309= Single submitter intellectual disability, autosomal dominant 5
  • p.Gly915Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly947Ala Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly952Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Gly991Arg Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.His945Gln Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.His961Tyr Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ile1115_Gly1117del Single submitter intellectual disability, autosomal dominant 5
  • p.Ile483Val Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ile494Val Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Leu1109Pro Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Leu264Pro Single submitter SYNGAP1-related disorder ⚠
  • p.Leu489Pro Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Leu748Arg Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Leu835Met Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Lys1135Thr Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Lys492Glu Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Lys705= Single submitter intellectual disability, autosomal dominant 5
  • p.Met1Ile Single submitter Inborn genetic diseases ⚠
  • p.Pro1041Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Pro1278= Single submitter Inborn genetic diseases
  • p.Pro1287Leu Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Pro1301His Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Pro38Leu Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Pro89Ala Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Pro94Ser Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ser1098Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser1121= Single submitter intellectual disability, autosomal dominant 5
  • p.Ser1132Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser1165Leu Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ser1212Phe Single submitter SYNGAP1-related disorder ⚠
  • p.Ser17Phe Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ser590Gly Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ser704Asn Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Ser955Phe Single submitter Inborn genetic diseases ⚠
  • p.Thr1305Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr144= Single submitter intellectual disability, autosomal dominant 5
  • p.Thr153Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr223Ser Single submitter Inborn genetic diseases
  • p.Thr224Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr305Ala Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Thr672Met Single submitter hereditary ataxia ⚠
  • p.Thr900Met Single submitter Inborn genetic diseases ⚠
  • p.Tyr982Cys Single submitter ⚠
  • p.Val306Ile Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Val320Leu Single submitter Inborn genetic diseases ⚠
  • p.Val441Ala Single submitter intellectual disability, autosomal dominant 5 ⚠
  • p.Val866Ile Single submitter intellectual disability, autosomal dominant 5 ⚠

Benign 115

Benign/Likely benign 48

  • c.1677-8C>T Multiple submitters intellectual disability, autosomal dominant 5
  • c.1677-9T>C Multiple submitters intellectual disability, autosomal dominant 5
  • c.296-8C>T Multiple submitters intellectual disability, autosomal dominant 5
  • c.3582+7T>C Multiple submitters intellectual disability, autosomal dominant 5
  • c.3583-17G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.388-18T>C Multiple submitters
  • p.1053_1056SGGG[1] Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala1045Gly Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala1322Pro Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala236= Multiple submitters Inborn genetic diseases
  • p.Ala236Val Multiple submitters intellectual disability, autosomal dominant 5 ⚠
  • p.Ala450= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala577Gly Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala784= Multiple submitters Inborn genetic diseases
  • p.Ala901= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg1103His Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg258His Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg967Gln Multiple submitters intellectual disability, autosomal dominant 5
  • p.Asn719= Multiple submitters Inborn genetic diseases
  • p.Asp527= Multiple submitters Inborn genetic diseases
  • p.Asp914= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Glu525= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Glu75Lys Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly1122Ser Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly944Ser Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly949Ser Multiple submitters Inborn genetic diseases
  • p.Gly952= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ile630Val Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu1091= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu196= Multiple submitters Inborn genetic diseases
  • p.Leu482= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Lys149= Multiple submitters Inborn genetic diseases
  • p.Lys628= Multiple submitters Inborn genetic diseases
  • p.Phe645= Multiple submitters Inborn genetic diseases
  • p.Pro1283Leu Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro1326= Multiple submitters Inborn genetic diseases
  • p.Pro794Leu Multiple submitters Inborn genetic diseases
  • p.Ser1108= Multiple submitters Inborn genetic diseases
  • p.Ser28= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser592= Multiple submitters Inborn genetic diseases
  • p.Thr672= Multiple submitters Inborn genetic diseases
  • p.Thr790Asn Multiple submitters Inborn genetic diseases
  • p.Tyr1099= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Tyr34= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Tyr342Cys Multiple submitters intellectual disability, autosomal dominant 5
  • p.Tyr497= Multiple submitters Inborn genetic diseases
  • p.Val400Leu Multiple submitters intellectual disability, autosomal dominant 5
  • p.Val860Ile Multiple submitters intellectual disability, autosomal dominant 5

Likely benign 582

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1531+19C>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.1677-129_1677-128del Multiple submitters
  • c.190-148A>G Multiple submitters
  • c.1914-14G>C Multiple submitters intellectual disability, autosomal dominant 5
  • c.2116-92A>G Multiple submitters
  • c.2294+13G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.2295-20C>T Multiple submitters intellectual disability, autosomal dominant 5
  • c.2336+19C>T Multiple submitters intellectual disability, autosomal dominant 5
  • c.2336+7G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.2337-10C>G Multiple submitters intellectual disability, autosomal dominant 5
  • c.295+9G>C Multiple submitters intellectual disability, autosomal dominant 5
  • c.3583-18C>T Multiple submitters intellectual disability, autosomal dominant 5
  • c.3795-11C>T Multiple submitters intellectual disability, autosomal dominant 5
  • c.387+32G>A Multiple submitters
  • c.387+67G>A Multiple submitters
  • c.388-3dup Multiple submitters Inborn genetic diseases
  • c.3885+157C>G Multiple submitters
  • c.3885+8T>C Multiple submitters intellectual disability, autosomal dominant 5
  • c.3886-5T>C Multiple submitters Inborn genetic diseases
  • c.664-5T>C Multiple submitters intellectual disability, autosomal dominant 5
  • c.67+15del Multiple submitters intellectual disability, autosomal dominant 5
  • c.762+18G>A Multiple submitters intellectual disability, autosomal dominant 5
  • c.762+46C>T Multiple submitters
  • c.*4A>G Multiple submitters
  • p.Ala1102= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala124= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala1312= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala864= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala865= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala886= Multiple submitters Inborn genetic diseases
  • p.Ala888= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ala902Thr Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg596His Multiple submitters intellectual disability, autosomal dominant 5
  • p.Arg890Pro Multiple submitters Inborn genetic diseases
  • p.Asn1334= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Asn856= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Asp167= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Asp255= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Asp826= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Cys576= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gln1025= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Glu179= Multiple submitters Inborn genetic diseases
  • p.Glu194= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Glu313= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Glu970= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly1052= Multiple submitters Inborn genetic diseases
  • p.Gly1058= Multiple submitters
  • p.Gly11= Multiple submitters Inborn genetic diseases
  • p.Gly1123= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly1335= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly382= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly386= Multiple submitters Inborn genetic diseases
  • p.Gly889= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Gly943= Multiple submitters Inborn genetic diseases
  • p.Gly948= Multiple submitters Inborn genetic diseases
  • p.Gly981= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ile767= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu1076= Multiple submitters Inborn genetic diseases
  • p.Leu435= Multiple submitters Inborn genetic diseases
  • p.Leu653= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu689= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu709= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Leu855= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Lys1260= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Met904Val Multiple submitters intellectual disability, autosomal dominant 5
  • p.Phe218= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Phe806= Multiple submitters
  • p.Pro1065= Multiple submitters Inborn genetic diseases
  • p.Pro1066= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro1101= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro1283= Multiple submitters Inborn genetic diseases
  • p.Pro1323= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro1324= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro38= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro398= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro437= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro787= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro796= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Pro812= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser1057= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser1118= Multiple submitters Inborn genetic diseases
  • p.Ser1165= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser1257= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser379= Multiple submitters Inborn genetic diseases
  • p.Ser52= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser604= Multiple submitters Inborn genetic diseases
  • p.Ser752= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser76= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser840= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Ser989= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Thr1015= Multiple submitters Inborn genetic diseases
  • p.Thr408= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Tyr417= Multiple submitters intellectual disability, autosomal dominant 5
  • p.Tyr820= Multiple submitters Inborn genetic diseases
  • p.Val434= Single submitter
  • p.Leu435= Single submitter intellectual disability, autosomal dominant 5
  • c.1386+10del Single submitter intellectual disability, autosomal dominant 5
  • c.1386+10G>T Single submitter intellectual disability, autosomal dominant 5
  • c.1387-11C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1387-19G>C Single submitter intellectual disability, autosomal dominant 5
  • c.1387-8G>T Single submitter intellectual disability, autosomal dominant 5
  • p.Leu482= Single submitter intellectual disability, autosomal dominant 5
  • c.1531+11del Single submitter intellectual disability, autosomal dominant 5
  • c.1531+7C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1531+8C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1531+9C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1532-12C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1532-13C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1532-15G>A Single submitter intellectual disability, autosomal dominant 5
  • c.1532-17G>A Single submitter intellectual disability, autosomal dominant 5
  • c.1532-20C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1532-20C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1532-28C>A Single submitter
  • c.1532-4C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1532-8C>A Single submitter intellectual disability, autosomal dominant 5
  • c.1532-8C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1676+14C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1676+15G>A Single submitter intellectual disability, autosomal dominant 5
  • c.1676+19G>A Single submitter intellectual disability, autosomal dominant 5
  • c.1676+7C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1677-11C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1677-12C>A Single submitter intellectual disability, autosomal dominant 5
  • c.1677-12C>T Single submitter intellectual disability, autosomal dominant 5
  • c.1677-15G>A Single submitter intellectual disability, autosomal dominant 5
  • c.1677-16C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1677-40TC[7] Single submitter
  • c.1677-8C>A Single submitter intellectual disability, autosomal dominant 5
  • p.Ala601= Single submitter intellectual disability, autosomal dominant 5
  • c.189+14G>C Single submitter intellectual disability, autosomal dominant 5
  • c.189+15_189+16delinsGC Single submitter intellectual disability, autosomal dominant 5
  • c.189+18G>C Single submitter intellectual disability, autosomal dominant 5
  • c.189+8_189+9del Single submitter intellectual disability, autosomal dominant 5
  • c.190-12C>G Single submitter intellectual disability, autosomal dominant 5
  • c.190-14C>T Single submitter intellectual disability, autosomal dominant 5
  • c.190-16C>T Single submitter intellectual disability, autosomal dominant 5
  • c.190-7C>T Single submitter intellectual disability, autosomal dominant 5
  • c.190-8T>C Single submitter intellectual disability, autosomal dominant 5
  • c.190-9C>G Single submitter intellectual disability, autosomal dominant 5
  • c.1913+17G>T Single submitter intellectual disability, autosomal dominant 5
  • c.1913+36T>C Single submitter
  • c.1914-15T>G Single submitter intellectual disability, autosomal dominant 5
  • c.1914-18T>G Single submitter intellectual disability, autosomal dominant 5
  • c.1914-32_1914-29del Single submitter
  • c.1914-59TG[12] Single submitter
  • c.1914-59TG[15] Single submitter
  • c.1914-9C>A Single submitter intellectual disability, autosomal dominant 5
  • c.2115+15T>C Single submitter
  • c.2115+17T>C Single submitter intellectual disability, autosomal dominant 5
  • c.2116-13C>T Single submitter intellectual disability, autosomal dominant 5
  • c.2116-4C>G Single submitter intellectual disability, autosomal dominant 5
  • c.2116-4C>T Single submitter intellectual disability, autosomal dominant 5
  • c.2116-8C>T Single submitter intellectual disability, autosomal dominant 5
  • c.2294+12G>C Single submitter intellectual disability, autosomal dominant 5
  • c.2294+14G>A Single submitter intellectual disability, autosomal dominant 5
  • c.2294+17A>G Single submitter intellectual disability, autosomal dominant 5
  • c.2294+17A>T Single submitter intellectual disability, autosomal dominant 5
  • c.2294+20C>G Single submitter intellectual disability, autosomal dominant 5
  • c.2294+9C>T Single submitter intellectual disability, autosomal dominant 5
  • c.2295-11TC[3] Single submitter intellectual disability, autosomal dominant 5
  • c.2295-11TC[5] Single submitter intellectual disability, autosomal dominant 5
  • c.2295-13C>T Single submitter intellectual disability, autosomal dominant 5
  • c.2295-17T>C Single submitter intellectual disability, autosomal dominant 5
  • c.2295-19del Single submitter intellectual disability, autosomal dominant 5
  • c.2295-19T>C Single submitter intellectual disability, autosomal dominant 5
  • c.2295-209G>T Single submitter
  • c.2295-20C>G Single submitter intellectual disability, autosomal dominant 5
  • c.2336+9C>T Single submitter intellectual disability, autosomal dominant 5
  • c.2337-20G>A Single submitter intellectual disability, autosomal dominant 5
  • c.2337-7C>T Single submitter intellectual disability, autosomal dominant 5
  • c.2337-9_2337-3del Single submitter intellectual disability, autosomal dominant 5
  • p.Pro796= Single submitter intellectual disability, autosomal dominant 5
  • p.Gly952= Single submitter intellectual disability, autosomal dominant 5
  • c.295+16A>G Single submitter intellectual disability, autosomal dominant 5
  • c.295+19C>A Single submitter intellectual disability, autosomal dominant 5
  • c.295+7C>T Single submitter intellectual disability, autosomal dominant 5
  • c.295+87G>T Single submitter
  • c.296-11C>A Single submitter intellectual disability, autosomal dominant 5
  • c.296-11C>G Single submitter intellectual disability, autosomal dominant 5
  • c.296-17C>T Single submitter intellectual disability, autosomal dominant 5
  • c.296-4C>T Single submitter intellectual disability, autosomal dominant 5
  • c.296-6C>T Single submitter intellectual disability, autosomal dominant 5
  • c.3408+29G>A Single submitter
  • c.3408+7G>A Single submitter intellectual disability, autosomal dominant 5
  • c.3409-7G>A Single submitter intellectual disability, autosomal dominant 5
  • c.3582+11C>A Single submitter intellectual disability, autosomal dominant 5
  • c.3582+11C>T Single submitter intellectual disability, autosomal dominant 5
  • c.3582+12T>C Single submitter intellectual disability, autosomal dominant 5
  • c.3582+13C>T Single submitter intellectual disability, autosomal dominant 5
  • c.3582+7T>G Single submitter intellectual disability, autosomal dominant 5
  • c.3583-10C>T Single submitter intellectual disability, autosomal dominant 5
  • c.3583-12C>T Single submitter intellectual disability, autosomal dominant 5
  • c.3583-20G>T Single submitter intellectual disability, autosomal dominant 5
  • c.3583-4G>A Single submitter intellectual disability, autosomal dominant 5
  • c.3794+19dup Single submitter intellectual disability, autosomal dominant 5
  • c.3794+7G>A Single submitter intellectual disability, autosomal dominant 5
  • c.3794+9C>T Single submitter intellectual disability, autosomal dominant 5
  • c.3795-10G>A Single submitter intellectual disability, autosomal dominant 5
  • c.3795-10G>C Single submitter intellectual disability, autosomal dominant 5
  • c.387+12C>T Single submitter intellectual disability, autosomal dominant 5
  • c.387+14del Single submitter intellectual disability, autosomal dominant 5
  • c.387+16C>G Single submitter intellectual disability, autosomal dominant 5
  • c.387+8G>T Single submitter intellectual disability, autosomal dominant 5
  • c.388-11T>G Single submitter intellectual disability, autosomal dominant 5
  • c.388-13A>G Single submitter intellectual disability, autosomal dominant 5
  • c.388-18T>A Single submitter intellectual disability, autosomal dominant 5
  • c.388-19_388-18del Single submitter
  • c.388-20C>T Single submitter intellectual disability, autosomal dominant 5
  • c.388-30dup Single submitter
  • c.3885+986C>T Single submitter
  • c.3886-10T>C Single submitter intellectual disability, autosomal dominant 5
  • c.3886-7C>G Single submitter intellectual disability, autosomal dominant 5
  • c.509+14A>G Single submitter intellectual disability, autosomal dominant 5
  • c.509+7G>T Single submitter intellectual disability, autosomal dominant 5
  • c.510-199dup Single submitter
  • c.510-206_510-199dup Single submitter
  • c.510-51G>A Single submitter
  • c.510-55_510-53dup Single submitter
  • c.510-5G>A Single submitter intellectual disability, autosomal dominant 5
  • c.510-5G>T Single submitter intellectual disability, autosomal dominant 5
  • c.663+10C>G Single submitter intellectual disability, autosomal dominant 5
  • c.663+19T>C Single submitter intellectual disability, autosomal dominant 5
  • c.663+8G>C Single submitter intellectual disability, autosomal dominant 5
  • c.664-12A>G Single submitter intellectual disability, autosomal dominant 5
  • c.664-13C>T Single submitter intellectual disability, autosomal dominant 5
  • c.664-14_664-11del Single submitter intellectual disability, autosomal dominant 5
  • c.664-41C>T Single submitter
  • c.664-4C>T Single submitter intellectual disability, autosomal dominant 5
  • c.67+10G>A Single submitter intellectual disability, autosomal dominant 5
  • c.67+13G>A Single submitter intellectual disability, autosomal dominant 5
  • c.67+15G>A Single submitter intellectual disability, autosomal dominant 5
  • c.67+16A>T Single submitter intellectual disability, autosomal dominant 5
  • c.67+186G>A Single submitter
  • c.67+20G>T Single submitter intellectual disability, autosomal dominant 5
  • c.67+9dup Single submitter intellectual disability, autosomal dominant 5
  • c.67+9T>A Single submitter intellectual disability, autosomal dominant 5
  • c.67+9T>G Single submitter intellectual disability, autosomal dominant 5
  • c.68-15G>A Single submitter intellectual disability, autosomal dominant 5
  • c.68-17G>A Single submitter
  • c.68-19G>T Single submitter intellectual disability, autosomal dominant 5
  • c.68-277C>G Single submitter
  • c.762+10A>T Single submitter intellectual disability, autosomal dominant 5
  • c.762+12T>A Single submitter intellectual disability, autosomal dominant 5
  • c.763-122C>T Single submitter
  • c.763-5G>A Single submitter intellectual disability, autosomal dominant 5
  • c.763-5G>C Single submitter intellectual disability, autosomal dominant 5
  • c.763-7A>T Single submitter intellectual disability, autosomal dominant 5
  • c.763-8C>T Single submitter intellectual disability, autosomal dominant 5
  • p.1053SGGG[1] Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1045= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1150= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1319= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1319fs Single submitter
  • p.Ala1322= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala1322fs Single submitter
  • p.Ala1341= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala15= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala171= Single submitter
  • p.Ala19= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala195= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala237= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala249= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala433Val Single submitter
  • p.Ala438= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala469= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala533= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala537Val Single submitter intellectual disability, autosomal dominant 5
  • p.Ala585= Single submitter
  • p.Ala585Thr Single submitter
  • p.Ala707= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala819= Single submitter intellectual disability, autosomal dominant 5
  • p.Ala879Lys Single submitter intellectual disability, autosomal dominant 5
  • p.Ala936del Single submitter intellectual disability, autosomal dominant 5
  • p.Ala997= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg10= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg1019= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg1085= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg1103= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg127= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg1274His Single submitter intellectual disability, autosomal dominant 5
  • p.Arg1275= Single submitter
  • p.Arg1275Leu Single submitter
  • p.Arg1308His Single submitter intellectual disability, autosomal dominant 5
  • p.Arg172= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg234= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg25= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg272= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg299= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg335= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg356His Single submitter intellectual disability, autosomal dominant 5
  • p.Arg47= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg479= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg479Gln Single submitter intellectual disability, autosomal dominant 5
  • p.Arg47Gln Single submitter
  • p.Arg485His Single submitter intellectual disability, autosomal dominant 5
  • p.Arg573= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg575= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg581= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg596= Single submitter intellectual disability, autosomal dominant 5
  • p.Arg621Gln Single submitter intellectual disability, autosomal dominant 5
  • p.Arg687= Single submitter intellectual disability, autosomal dominant 5

Uncertain significance 602

Showing the top 300 by review status; the full set is in the sitemap.