ClinVar Miner

List of variants in gene SYNGAP1 reported as likely pathogenic

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NCBI36/hg18 6p21.32(chr6:33451137-33543925)x1
NC_000006.11:g.(?_33393555)_(33393700_?)dup
NM_006772.2(SYNGAP1):c.1532_1534del rs1760930568
NM_006772.3(SYNGAP1):c.102C>A (p.Tyr34Ter) rs147913000
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser) rs1760893537
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg) rs1554121265
NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer) rs1760904978
NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter) rs2151170014
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser) rs1760905358
NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter) rs1561785045
NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro) rs1581987885
NM_006772.3(SYNGAP1):c.1312del (p.Ala438fs) rs2151170227
NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro)
NM_006772.3(SYNGAP1):c.1386+1G>A
NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg) rs2151171287
NM_006772.3(SYNGAP1):c.1513T>C (p.Tyr505His)
NM_006772.3(SYNGAP1):c.1517T>C (p.Leu506Pro) rs1760918521
NM_006772.3(SYNGAP1):c.1529T>G (p.Ile510Ser) rs1554121364
NM_006772.3(SYNGAP1):c.1531+1del rs2151171434
NM_006772.3(SYNGAP1):c.1531G>A (p.Gly511Arg)
NM_006772.3(SYNGAP1):c.1532-1G>A rs1760930644
NM_006772.3(SYNGAP1):c.1532-1G>C rs1760930644
NM_006772.3(SYNGAP1):c.1556A>C (p.Glu519Ala) rs1760931697
NM_006772.3(SYNGAP1):c.1583delinsTG (p.Pro528fs) rs2151172438
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro) rs1480178032
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer) rs2151172644
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro) rs1554121453
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006772.3(SYNGAP1):c.1676+5G>T rs1760935231
NM_006772.3(SYNGAP1):c.1677-2A>G rs2151180361
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs) rs1554121671
NM_006772.3(SYNGAP1):c.1706T>C (p.Phe569Ser)
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1718G>A (p.Arg573Gln) rs1554121685
NM_006772.3(SYNGAP1):c.1718G>T (p.Arg573Leu) rs1554121685
NM_006772.3(SYNGAP1):c.1763T>A (p.Leu588His) rs1064795645
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_006772.3(SYNGAP1):c.189+1G>A
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro) rs1761021165
NM_006772.3(SYNGAP1):c.1913+1G>A rs2151181124
NM_006772.3(SYNGAP1):c.1913+2_1913+5del rs2151181120
NM_006772.3(SYNGAP1):c.1914-1G>A
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr) rs1485749468
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro) rs1581992998
NM_006772.3(SYNGAP1):c.2087T>C (p.Leu696Pro) rs2151182679
NM_006772.3(SYNGAP1):c.2104_2115+14del rs1064792984
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=) rs1057518786
NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn) rs1057518786
NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs) rs1761049027
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.2294+1G>C
NM_006772.3(SYNGAP1):c.2337-1G>A
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs) rs1761087122
NM_006772.3(SYNGAP1):c.2446del (p.Ser816fs)
NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr) rs1561788965
NM_006772.3(SYNGAP1):c.2525_2528dup (p.Met843fs) rs1761093830
NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs) rs1761096151
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg) rs1761103512
NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs) rs1554122276
NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs)
NM_006772.3(SYNGAP1):c.3025G>T (p.Glu1009Ter)
NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter) rs1554122296
NM_006772.3(SYNGAP1):c.3125_3138del (p.Gln1042fs)
NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys) rs1761113561
NM_006772.3(SYNGAP1):c.3196C>T (p.Pro1066Ser) rs2151190466
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs) rs1057518796
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr) rs1200128322
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs) rs1581997098
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter) rs1554122400
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu) rs875989808
NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs) rs1554304254
NM_006772.3(SYNGAP1):c.3508_3509del (p.Ser1170fs) rs1581998105
NM_006772.3(SYNGAP1):c.3534C>A (p.Tyr1178Ter) rs2151193128
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3594C>G (p.Tyr1198Ter) rs1007979214
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs) rs2151199493
NM_006772.3(SYNGAP1):c.3711T>A (p.Tyr1237Ter)
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs) rs1554122735
NM_006772.3(SYNGAP1):c.3794+2T>C rs1395368098
NM_006772.3(SYNGAP1):c.3794G>C (p.Arg1265Thr) rs1554122763
NM_006772.3(SYNGAP1):c.3795-1G>C rs1761241410
NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=) rs767126748
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn) rs998489108
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys) rs1554120589
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006772.3(SYNGAP1):c.535del (p.Glu179fs) rs786205649
NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro) rs1057519545
NM_006772.3(SYNGAP1):c.629_632dup (p.Ser211fs)
NM_006772.3(SYNGAP1):c.662A>T (p.Glu221Val)
NM_006772.3(SYNGAP1):c.663+1G>A rs1064797322
NM_006772.3(SYNGAP1):c.663+1G>T rs1064797322
NM_006772.3(SYNGAP1):c.68-1G>A rs1562869207
NM_006772.3(SYNGAP1):c.680dup (p.Thr228fs)
NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro) rs2151161955
NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter) rs1554120974
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) rs1554120978
NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro) rs1400108198
NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg) rs1581987022
NM_006772.3(SYNGAP1):c.847del (p.Glu283fs) rs2151168593
NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His) rs2151168637
NM_006772.3(SYNGAP1):c.859G>T (p.Asp287Tyr)
NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro) rs1561784553
NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys) rs1554121202
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206
NM_006772.3(SYNGAP1):c.930G>C (p.Glu310Asp) rs1760890843
NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg) rs1760891950

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