ClinVar Miner

List of variants in gene SYNGAP1 reported as pathogenic for not provided

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter) rs1760897843
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs)
NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter) rs1554121273
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter) rs2151170078
NM_006772.3(SYNGAP1):c.1296dup (p.Ala433fs) rs1581987902
NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs) rs1760906699
NM_006772.3(SYNGAP1):c.1345dup (p.Ser449fs) rs1554121295
NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
NM_006772.3(SYNGAP1):c.1531G>C (p.Gly511Arg) rs1554121365
NM_006772.3(SYNGAP1):c.1602_1603del (p.Ser535fs) rs2151172527
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1716G>A (p.Trp572Ter) rs1057518178
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.1792del (p.Leu598fs) rs1131691635
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.1913+2T>G rs2151181133
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter) rs1554121861
NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter) rs1554121924
NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter) rs1554121947
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.2294+1G>T rs1554121970
NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter) rs1554122080
NM_006772.3(SYNGAP1):c.2418del (p.Tyr807fs) rs1554122179
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs) rs397515320
NM_006772.3(SYNGAP1):c.2454_2456delinsG (p.Ala819fs) rs1581995609
NM_006772.3(SYNGAP1):c.2494C>T (p.Gln832Ter) rs1554122196
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter) rs1554122200
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter) rs1554122242
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs) rs1064796547
NM_006772.3(SYNGAP1):c.2974del (p.Val992fs) rs1761108186
NM_006772.3(SYNGAP1):c.3036del (p.Ser1013fs) rs1554122289
NM_006772.3(SYNGAP1):c.3061C>T (p.Gln1021Ter)
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs) rs2151190135
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
NM_006772.3(SYNGAP1):c.3227del (p.Gln1075_Leu1076insTer) rs1064796033
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.3246delinsAA (p.Pro1084fs) rs1554122348
NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter) rs1554122363
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs) rs1581997098
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3415_3416del (p.Gln1139fs) rs1554122457
NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter) rs1064796403
NM_006772.3(SYNGAP1):c.355dup (p.Glu119fs) rs1554120489
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.388-1G>C
NM_006772.3(SYNGAP1):c.388-2A>C
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.472C>T (p.Gln158Ter) rs1085307871
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.509+1G>A rs1561781989
NM_006772.3(SYNGAP1):c.646C>T (p.Gln216Ter) rs1554120941
NM_006772.3(SYNGAP1):c.718_719del (p.Asp240fs) rs1777306901
NM_006772.3(SYNGAP1):c.763-1G>A
NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del) rs1554121164
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) rs2151168473
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg) rs1581987022
NM_006772.3(SYNGAP1):c.922T>C (p.Trp308Arg) rs1057524025
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys) rs1554121202
NM_006772.3(SYNGAP1):c.926del (p.Gly309fs) rs1760890595
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206
NM_006772.3(SYNGAP1):c.949del (p.Leu317fs) rs1554121211

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