ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, autosomal dominant 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NC_000006.11:g.(?_33388042)_(33679463_?)del
NC_000006.11:g.(?_33406026)_(33416171_?)del
NC_000006.12:g.(?_33420245)_(33451926_?)del
NC_000006.12:g.(?_33435132)_(33438311_?)del
NC_000006.12:g.33432163_33432188del
NM_006772.3(SYNGAP1):c.1001del (p.Lys334fs) rs1561784687
NM_006772.3(SYNGAP1):c.1022_1023del (p.Gly341fs) rs2151169133
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser) rs1760893537
NM_006772.3(SYNGAP1):c.1053del (p.Thr352fs) rs1554121228
NM_006772.3(SYNGAP1):c.1057_1072del (p.Leu353fs) rs2537391175
NM_006772.3(SYNGAP1):c.1077_1089delinsTG (p.Glu360fs)
NM_006772.3(SYNGAP1):c.1084T>C (p.Trp362Arg) rs1581987445
NM_006772.3(SYNGAP1):c.1094del (p.Val365fs) rs1581987476
NM_006772.3(SYNGAP1):c.1117G>T (p.Gly373Ter) rs1554121245
NM_006772.3(SYNGAP1):c.1127del (p.Gly376fs) rs1760896816
NM_006772.3(SYNGAP1):c.1136C>A (p.Ser379Ter) rs371883908
NM_006772.3(SYNGAP1):c.1139del (p.Gly380fs) rs1760897529
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter) rs1760897843
NM_006772.3(SYNGAP1):c.1160dup (p.Gly388fs) rs763386280
NM_006772.3(SYNGAP1):c.1166C>A (p.Ser389Ter) rs2151169721
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs) rs2537392581
NM_006772.3(SYNGAP1):c.1172del (p.Gly391fs)
NM_006772.3(SYNGAP1):c.117T>G (p.Tyr39Ter) rs2537283697
NM_006772.3(SYNGAP1):c.1187del (p.Gly396fs)
NM_006772.3(SYNGAP1):c.1193del (p.Pro398fs) rs2537392739
NM_006772.3(SYNGAP1):c.1219del (p.Gln407fs) rs2537393016
NM_006772.3(SYNGAP1):c.1235dup (p.Leu412fs) rs1561785003
NM_006772.3(SYNGAP1):c.123del (p.Pro42fs) rs2537283743
NM_006772.3(SYNGAP1):c.1253_1254del (p.Lys418fs) rs1760905282
NM_006772.3(SYNGAP1):c.1253_1256del (p.Lys418fs)
NM_006772.3(SYNGAP1):c.1267del (p.Tyr423fs) rs2537393350
NM_006772.3(SYNGAP1):c.1273_1274del (p.Thr425fs) rs1760905766
NM_006772.3(SYNGAP1):c.1393del (p.Leu465fs) rs1057518183
NM_006772.3(SYNGAP1):c.1441_1444dup (p.Leu482fs) rs2537397002
NM_006772.3(SYNGAP1):c.1453del (p.Arg485fs) rs1561785326
NM_006772.3(SYNGAP1):c.1466_1469del (p.Leu489fs) rs2537397359
NM_006772.3(SYNGAP1):c.1492_1493del (p.Met498fs) rs2537397747
NM_006772.3(SYNGAP1):c.1499T>C (p.Leu500Pro) rs2537397972
NM_006772.3(SYNGAP1):c.1501_1504del (p.Ile501fs)
NM_006772.3(SYNGAP1):c.1532-3C>G rs1561785573
NM_006772.3(SYNGAP1):c.1534G>T (p.Glu512Ter) rs2151172286
NM_006772.3(SYNGAP1):c.1554_1555delinsA (p.Tyr518_Glu519delinsTer) rs2537402199
NM_006772.3(SYNGAP1):c.1564del (p.Glu522fs) rs2151172356
NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer) rs797046028
NM_006772.3(SYNGAP1):c.1603dup (p.Ser535fs)
NM_006772.3(SYNGAP1):c.1618C>T (p.Gln540Ter) rs1554121438
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1640G>A (p.Cys547Tyr) rs2151172652
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer) rs2151172644
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006772.3(SYNGAP1):c.1677-3C>G rs187150565
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs) rs1057519405
NM_006772.3(SYNGAP1):c.1712C>A (p.Ser571Ter) rs1554121682
NM_006772.3(SYNGAP1):c.1715G>C (p.Trp572Ser) rs1554121684
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1721del (p.Leu574fs) rs1581991929
NM_006772.3(SYNGAP1):c.1728C>A (p.Cys576Ter) rs576589974
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1736_1740del (p.Arg579fs) rs1561786928
NM_006772.3(SYNGAP1):c.1744del (p.Glu582fs) rs1761010258
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.1823_1824del (p.Phe608fs) rs1581992099
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro) rs1761021165
NM_006772.3(SYNGAP1):c.190-2A>C rs1776941586
NM_006772.3(SYNGAP1):c.190-2A>G rs1776941586
NM_006772.3(SYNGAP1):c.1902del (p.Asn635fs) rs2151181087
NM_006772.3(SYNGAP1):c.1908_1909del (p.Ser637fs) rs1057519400
NM_006772.3(SYNGAP1):c.1913+5G>A rs1761021575
NM_006772.3(SYNGAP1):c.199del (p.Leu67fs) rs1554119814
NM_006772.3(SYNGAP1):c.200del (p.Leu67fs) rs2537299697
NM_006772.3(SYNGAP1):c.2014del (p.Thr672fs) rs2537428137
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs) rs797046029
NM_006772.3(SYNGAP1):c.2075T>A (p.Leu692Gln) rs1761037096
NM_006772.3(SYNGAP1):c.2090G>A (p.Trp697Ter) rs1554121853
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter) rs1554121861
NM_006772.3(SYNGAP1):c.2115+1G>C rs2537428845
NM_006772.3(SYNGAP1):c.2116-1G>A rs2537431100
NM_006772.3(SYNGAP1):c.2135_2142del (p.Gly712fs) rs1561787690
NM_006772.3(SYNGAP1):c.2147G>A (p.Arg716Gln) rs1060503384
NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter) rs1554121924
NM_006772.3(SYNGAP1):c.2209C>T (p.Gln737Ter) rs1554121932
NM_006772.3(SYNGAP1):c.2215G>T (p.Glu739Ter) rs1554121934
NM_006772.3(SYNGAP1):c.2234del (p.Pro745fs) rs2151183929
NM_006772.3(SYNGAP1):c.2235_2238dup (p.Val747fs) rs2537432050
NM_006772.3(SYNGAP1):c.223G>T (p.Glu75Ter) rs1554119819
NM_006772.3(SYNGAP1):c.2266C>T (p.Gln756Ter) rs1554121960
NM_006772.3(SYNGAP1):c.2272dup (p.Tyr758fs) rs1561787845
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.2294+1G>T rs1554121970
NM_006772.3(SYNGAP1):c.2350_2354dup (p.Pro787fs) rs2537444256
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs) rs1761087122
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs) rs1581995425
NM_006772.3(SYNGAP1):c.2387dup (p.Pro797fs) rs1581995425
NM_006772.3(SYNGAP1):c.2391_2392dup (p.Pro798fs) rs1581995453
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs) rs397515320
NM_006772.3(SYNGAP1):c.2450C>G (p.Ser817Ter) rs2151188152
NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys) rs1554122191
NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs) rs2151188291
NM_006772.3(SYNGAP1):c.2538dup (p.Gln847fs) rs2151188326
NM_006772.3(SYNGAP1):c.2550del (p.Pro851fs) rs2537446130
NM_006772.3(SYNGAP1):c.2562_2578del (p.Leu855fs) rs1561788984
NM_006772.3(SYNGAP1):c.2578_2579del (p.Val860fs) rs879253762
NM_006772.3(SYNGAP1):c.2591_2592del (p.Ala864fs) rs2537446428
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs) rs587780474
NM_006772.3(SYNGAP1):c.2667del (p.Arg890fs) rs2537447093
NM_006772.3(SYNGAP1):c.2677del (p.Gln893fs) rs1581995953
NM_006772.3(SYNGAP1):c.2703_2715del (p.Ala902fs) rs2537447395
NM_006772.3(SYNGAP1):c.2717del (p.Leu906fs) rs2151188826
NM_006772.3(SYNGAP1):c.2726del (p.Met909fs) rs1561789215
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter) rs1554122242
NM_006772.3(SYNGAP1):c.2758C>T (p.Gln920Ter) rs1554122243
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.276del (p.Arg93fs) rs2151134692
NM_006772.3(SYNGAP1):c.2776_2777del (p.Ser926fs) rs2537447986
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_006772.3(SYNGAP1):c.2818_2852del (p.Gly940fs) rs1561789313
NM_006772.3(SYNGAP1):c.2825dup (p.Gly943fs)
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.28del (p.Arg10fs) rs1776744347
NM_006772.3(SYNGAP1):c.2955_2958del (p.Ser985fs) rs2537449413
NM_006772.3(SYNGAP1):c.2970del (p.Val992fs) rs2537449548
NM_006772.3(SYNGAP1):c.3045dup (p.Asp1016Ter)
NM_006772.3(SYNGAP1):c.3055del (p.Arg1019fs) rs2537450220
NM_006772.3(SYNGAP1):c.3060del (p.Gln1021fs) rs1554122293
NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter) rs1554122296
NM_006772.3(SYNGAP1):c.3078del (p.Asp1026fs) rs2151189924
NM_006772.3(SYNGAP1):c.3124C>T (p.Gln1042Ter) rs1554122305
NM_006772.3(SYNGAP1):c.312_315dup (p.Arg106fs)
NM_006772.3(SYNGAP1):c.3133_3134insGAGGTGGCCCAGAGGCCAGATCACCATTGGT (p.Ala1045fs)
NM_006772.3(SYNGAP1):c.3133del (p.Ala1045fs) rs2151190116
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs) rs2151190135
NM_006772.3(SYNGAP1):c.3141_3142del (p.Gly1048fs) rs2151190159
NM_006772.3(SYNGAP1):c.3167_3188dup (p.Pro1065fs) rs1581996778
NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs) rs1581996813
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs) rs1581996813
NM_006772.3(SYNGAP1):c.3190C>T (p.Gln1064Ter) rs1135401805
NM_006772.3(SYNGAP1):c.3213del (p.Lys1072fs) rs2537452061
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.3244C>T (p.Gln1082Ter) rs1554122346
NM_006772.3(SYNGAP1):c.3265_3274dup (p.Leu1092fs) rs2537452533
NM_006772.3(SYNGAP1):c.3269dup (p.Asn1090fs) rs2151190684
NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter) rs1554122363
NM_006772.3(SYNGAP1):c.3303del (p.Ala1102fs) rs2151190809
NM_006772.3(SYNGAP1):c.3316C>T (p.Gln1106Ter)
NM_006772.3(SYNGAP1):c.3319C>T (p.Gln1107Ter) rs1554122368
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3358_3359del (p.Gly1120fs) rs2537453391
NM_006772.3(SYNGAP1):c.3369_3380del (p.Gly1125_Gly1128del) rs2151191080
NM_006772.3(SYNGAP1):c.3370G>T (p.Gly1124Ter)
NM_006772.3(SYNGAP1):c.3377del (p.Gly1126fs) rs1581997228
NM_006772.3(SYNGAP1):c.3384dup (p.Leu1129fs) rs2537453727
NM_006772.3(SYNGAP1):c.3404_3407del (p.Lys1135fs) rs2537453921
NM_006772.3(SYNGAP1):c.3408+1G>C rs1554122402
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006772.3(SYNGAP1):c.3432_3433insCCAC (p.Asn1145fs) rs2537459268
NM_006772.3(SYNGAP1):c.3452_3453del (p.Ala1150_Ser1151insTer) rs2151192910
NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter) rs1064796403
NM_006772.3(SYNGAP1):c.3505G>T (p.Glu1169Ter) rs1554122470
NM_006772.3(SYNGAP1):c.3516dup (p.Ile1173fs) rs2151193070
NM_006772.3(SYNGAP1):c.3535A>T (p.Lys1179Ter) rs1554122478
NM_006772.3(SYNGAP1):c.3553A>T (p.Lys1185Ter) rs1554122483
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3587dup (p.Glu1197fs) rs1761207751
NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs) rs797046030
NM_006772.3(SYNGAP1):c.3599dup (p.Glu1201fs) rs1582001015
NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs) rs1777174302
NM_006772.3(SYNGAP1):c.3606del (p.His1203fs) rs1761208393
NM_006772.3(SYNGAP1):c.3632del (p.Met1211fs) rs2151199347
NM_006772.3(SYNGAP1):c.366del (p.Ala123fs) rs2151151998
NM_006772.3(SYNGAP1):c.3679del (p.Glu1227fs)
NM_006772.3(SYNGAP1):c.3681del (p.Glu1228fs) rs2537475263
NM_006772.3(SYNGAP1):c.3685C>T (p.Gln1229Ter) rs2151199529
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter) rs1554122729
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.3732_3735del (p.Ser1244fs) rs1761212075
NM_006772.3(SYNGAP1):c.3751C>T (p.Gln1251Ter) rs1554122749
NM_006772.3(SYNGAP1):c.3754C>T (p.Gln1252Ter) rs1554122750
NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263fs) rs869312677
NM_006772.3(SYNGAP1):c.3794+1G>A rs2537475927
NM_006772.3(SYNGAP1):c.3795-1G>A rs1761241410
NM_006772.3(SYNGAP1):c.3811G>T (p.Glu1271Ter) rs1554122888
NM_006772.3(SYNGAP1):c.384dup (p.Ser129fs) rs1554120498
NM_006772.3(SYNGAP1):c.387+1G>A rs1777175608
NM_006772.3(SYNGAP1):c.388-2A>G rs797045012
NM_006772.3(SYNGAP1):c.388-2del rs2537351091
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.388C>T (p.Gln130Ter) rs1175416158
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.404_410del (p.Arg135fs) rs2537351314
NM_006772.3(SYNGAP1):c.410del (p.Leu137fs) rs1581980317
NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter) rs121918315
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.431_434del (p.Thr144fs)
NM_006772.3(SYNGAP1):c.438_448dup (p.Leu150fs) rs2537351663
NM_006772.3(SYNGAP1):c.478del (p.Leu160fs) rs2537352053
NM_006772.3(SYNGAP1):c.484_485insCT (p.Arg162fs)
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.509+1G>T rs1561781989
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006772.3(SYNGAP1):c.510-1G>A rs2151161019
NM_006772.3(SYNGAP1):c.531_532del (p.Phe177fs) rs2537368449
NM_006772.3(SYNGAP1):c.539dup (p.His181fs) rs1561783309
NM_006772.3(SYNGAP1):c.604del (p.Glu202fs) rs2537368917
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs) rs1777299176
NM_006772.3(SYNGAP1):c.67+1G>T rs2537261082
NM_006772.3(SYNGAP1):c.68-1G>A rs1562869207
NM_006772.3(SYNGAP1):c.712G>T (p.Glu238Ter) rs138903637
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) rs1554120978
NM_006772.3(SYNGAP1):c.745del (p.Ala249fs) rs1777307832
NM_006772.3(SYNGAP1):c.761dup (p.Asp255fs) rs2537371782
NM_006772.3(SYNGAP1):c.762+1G>T rs797046031
NM_006772.3(SYNGAP1):c.781_784del (p.Asp261fs) rs1581986872
NM_006772.3(SYNGAP1):c.812C>A (p.Ala271Asp) rs2537389235
NM_006772.3(SYNGAP1):c.828del (p.Lys277fs)
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) rs2151168473
NM_006772.3(SYNGAP1):c.840C>G (p.Tyr280Ter)
NM_006772.3(SYNGAP1):c.857_864dup (p.Met289fs) rs1554121189
NM_006772.3(SYNGAP1):c.85_86del (p.Met29fs) rs2537283301
NM_006772.3(SYNGAP1):c.878del (p.Arg293fs) rs1561784560
NM_006772.3(SYNGAP1):c.883_884del (p.Thr295fs) rs2151168687
NM_006772.3(SYNGAP1):c.896del (p.Arg299fs) rs863224930
NM_006772.3(SYNGAP1):c.91C>T (p.Arg31Ter) rs1554304655
NM_006772.3(SYNGAP1):c.929A>G (p.Glu310Gly) rs2537390164
NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter) rs1554121207
NM_006772.3(SYNGAP1):c.980T>C (p.Leu327Pro) rs1581987268
NM_006772.3(SYNGAP1):c.99del (p.Gln33fs) rs2151129654
SYNGAP1, TRP267TER

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