ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by RettBASE

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP
NM_001110792.2(MECP2):c.-31_-30AG[2] rs587783128
NM_001110792.2(MECP2):c.1134_1136CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_001323289.2(CDKL5):c.-189C>T rs786204994
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_003159.2(CDKL5):c.-440G>T rs777401314
NM_003159.2(CDKL5):c.2714-47C>T rs786204995
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) rs267608665
NM_004992.3(MECP2):c.(?_-226)_-99+?del
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.*122del rs267608342
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*92C>G rs62621672
NM_004992.3(MECP2):c.-15C>T rs267608324
NM_004992.3(MECP2):c.-187_-186delinsTT rs786205039
NM_004992.3(MECP2):c.-214_-213GC[4] rs782107551
NM_004992.3(MECP2):c.-99+1G>A rs786205048
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1015T>C (p.Cys339Arg) rs267608560
NM_004992.3(MECP2):c.1030C>G (p.Arg344Gly) rs61752361
NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp) rs61752361
NM_004992.3(MECP2):c.1043_1173delinsTG (p.Glu348_Pro391delinsVal) rs1557135603
NM_004992.3(MECP2):c.1048_1095del (p.Ser350_Glu365del) rs267608562
NM_004992.3(MECP2):c.1061_1156del (p.Arg354_Pro385del) rs1557135746
NM_004992.3(MECP2):c.1065C>A (p.Ser355Arg) rs267608563
NM_004992.3(MECP2):c.1093_1095del (p.Glu365del) rs786205032
NM_004992.3(MECP2):c.1117_1203del (p.Ser373_Ser401del) rs1557135279
NM_004992.3(MECP2):c.1123_1191del (p.Ser375_Glu397del) rs1557135441
NM_004992.3(MECP2):c.1133C>G (p.Ala378Gly) rs201314910
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1151_1183del (p.Pro384_Ser395delinsArg) rs267608575
NM_004992.3(MECP2):c.1153_1188del (p.Pro385_Ser396del) rs786205033
NM_004992.3(MECP2):c.1155_1166del (p.Leu386_Pro389del) rs782174572
NM_004992.3(MECP2):c.1156_1197del (p.Leu386_Pro399del) rs267608579
NM_004992.3(MECP2):c.1156_1200del (p.Leu386_Thr400del) rs267608581
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1160_1180del (p.Pro387_Glu394delinsGln) rs267608594
NM_004992.3(MECP2):c.1160_1200delinsAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp) rs267608343
NM_004992.3(MECP2):c.1161_1400del (p.Pro388_Pro467del) rs1557134946
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) rs61753000
NM_004992.3(MECP2):c.1162_1191del (p.Pro388_Glu397del) rs63749034
NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu) rs61753006
NM_004992.3(MECP2):c.1163_1216del (p.Pro388_Pro405del) rs1557135234
NM_004992.3(MECP2):c.1164_1172del (p.Pro389_Pro391del) rs267608604
NM_004992.3(MECP2):c.1164_1208del (p.Pro389_Pro403del) rs267608605
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1229G>A (p.Ser410Asn) rs267608616
NM_004992.3(MECP2):c.1233_1243del (p.Ser411fs) rs786205036
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1340C>T (p.Ala447Val) rs61753978
NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln) rs61753980
NM_004992.3(MECP2):c.1403_1408del (p.Arg468_Pro469del) rs267608632
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.1454_1457del (p.Val485fs) rs267608640
NM_004992.3(MECP2):c.1461A>C (p.Ter487Cys) rs267608642
NM_004992.3(MECP2):c.257C>G (p.Ser86Cys) rs61754445
NM_004992.3(MECP2):c.27-8C>G rs267608410
NM_004992.3(MECP2):c.27-9A>G rs267608413
NM_004992.3(MECP2):c.277C>T (p.Pro93Ser) rs61754447
NM_004992.3(MECP2):c.289G>T (p.Asp97Tyr) rs61754448
NM_004992.3(MECP2):c.28G>C (p.Glu10Gln) rs61754421
NM_004992.3(MECP2):c.291C>A (p.Asp97Glu) rs61754449
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.299T>G (p.Leu100Arg) rs61754451
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) rs61754453
NM_004992.3(MECP2):c.308G>A (p.Gly103Asp) rs267608450
NM_004992.3(MECP2):c.310T>C (p.Trp104Arg) rs267608451
NM_004992.3(MECP2):c.316C>G (p.Arg106Gly) rs28934907
NM_004992.3(MECP2):c.317G>T (p.Arg106Leu) rs61754457
NM_004992.3(MECP2):c.323T>A (p.Leu108His) rs61754458
NM_004992.3(MECP2):c.331A>G (p.Arg111Gly) rs61754459
NM_004992.3(MECP2):c.341G>C (p.Gly114Ala) rs61755760
NM_004992.3(MECP2):c.358T>G (p.Tyr120Asp) rs267608454
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.372G>C (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.372G>T (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.377+2T>G rs267608458
NM_004992.3(MECP2):c.378-14G>A rs267608467
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.383A>C (p.Gln128Pro) rs61748383
NM_004992.3(MECP2):c.386G>T (p.Gly129Val) rs61748384
NM_004992.3(MECP2):c.392C>A (p.Ala131Asp) rs267608470
NM_004992.3(MECP2):c.397C>G (p.Arg133Gly) rs28934904
NM_004992.3(MECP2):c.398G>A (p.Arg133His) rs61748389
NM_004992.3(MECP2):c.398G>T (p.Arg133Leu) rs61748389
NM_004992.3(MECP2):c.400T>C (p.Ser134Pro) rs267608471
NM_004992.3(MECP2):c.401C>T (p.Ser134Phe) rs61748390
NM_004992.3(MECP2):c.403A>G (p.Lys135Glu) rs61748391
NM_004992.3(MECP2):c.413T>C (p.Leu138Ser) rs267608475
NM_004992.3(MECP2):c.422A>G (p.Tyr141Cys) rs61748395
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.463T>A (p.Phe155Ile) rs61748406
NM_004992.3(MECP2):c.464T>G (p.Phe155Cys) rs28934905
NM_004992.3(MECP2):c.467A>C (p.Asp156Ala) rs61748407
NM_004992.3(MECP2):c.467A>G (p.Asp156Gly) rs61748407
NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) rs61748410
NM_004992.3(MECP2):c.471C>G (p.Phe157Leu) rs267608484
NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) rs61748411
NM_004992.3(MECP2):c.481G>T (p.Gly161Trp) rs61748416
NM_004992.3(MECP2):c.482G>A (p.Gly161Glu) rs61748417
NM_004992.3(MECP2):c.482G>T (p.Gly161Val) rs61748417
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.514C>T (p.Pro172Ser) rs61748426
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) rs61748427
NM_004992.3(MECP2):c.629A>T (p.Lys210Ile) rs61749730
NM_004992.3(MECP2):c.635_655del (p.Val212_Lys219delinsGlu) rs267608509
NM_004992.3(MECP2):c.679C>G (p.Gln227Glu) rs61749737
NM_004992.3(MECP2):c.836C>T (p.Ala279Val) rs61750249
NM_004992.3(MECP2):c.850A>G (p.Lys284Glu) rs61750255
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.871T>G (p.Ser291Ala) rs61751360
NM_004992.3(MECP2):c.898G>A (p.Val300Ile) rs61751370
NM_004992.3(MECP2):c.900_908del (p.Leu301_Ile303del) rs267608545
NM_004992.3(MECP2):c.904C>A (p.Pro302Thr) rs61751373
NM_004992.3(MECP2):c.904C>G (p.Pro302Ala) rs61751373
NM_004992.3(MECP2):c.904C>T (p.Pro302Ser) rs61751373
NM_004992.3(MECP2):c.905C>A (p.Pro302His) rs61749723
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.908T>G (p.Ile303Ser) rs267608549
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.910A>G (p.Lys304Glu) rs61751440
NM_004992.3(MECP2):c.913A>G (p.Lys305Glu) rs267608551
NM_004992.3(MECP2):c.914A>G (p.Lys305Arg) rs61751441
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.953A>C (p.Glu318Ala) rs61751448
NM_004992.3(MECP2):c.964C>G (p.Pro322Ala) rs61751449
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.982C>G (p.Leu328Val) rs267608556
NM_004992.3:c.(?_-226)_(*1_?)dup
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012

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