List of variants in gene SYN1 reported as uncertain significance for epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 171

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HGVS	dbSNP	gnomAD frequency
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu)	rs372445055	0.00011
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp)	rs769458536	0.00010
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln)	rs775109362	0.00007
NM_006950.3(SYN1):c.1370C>A (p.Ala457Asp)	rs781533684	0.00006
NM_006950.3(SYN1):c.1345T>A (p.Ser449Thr)	rs796053394	0.00005
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu)	rs749342768	0.00005
NM_006950.3(SYN1):c.944G>A (p.Arg315His)	rs370854090	0.00005
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)	rs772106134	0.00004
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile)	rs1339768860	0.00004
NM_006950.3(SYN1):c.435+10G>A	rs771547188	0.00004
NM_006950.3(SYN1):c.946G>A (p.Val316Ile)	rs770266055	0.00004
NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu)	rs1198466921	0.00003
NM_006950.3(SYN1):c.430G>A (p.Glu144Lys)	rs771860069	0.00003
NM_006950.3(SYN1):c.580C>T (p.Arg194Cys)	rs138985151	0.00003
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val)	rs772936641	0.00002
NM_006950.3(SYN1):c.439G>A (p.Glu147Lys)	rs201659924	0.00002
NM_006950.3(SYN1):c.473A>G (p.Asn158Ser)	rs765486966	0.00002
NM_006950.3(SYN1):c.505C>T (p.Arg169Trp)	rs762284940	0.00002
NM_006950.3(SYN1):c.565G>A (p.Ala189Thr)	rs2057893188	0.00002
NM_006950.3(SYN1):c.1076C>A (p.Thr359Lys)	rs765183335	0.00001
NM_006950.3(SYN1):c.1183A>G (p.Ile395Val)	rs185229386	0.00001
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn)	rs772668988	0.00001
NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu)	rs895517774	0.00001
NM_006950.3(SYN1):c.1363C>A (p.Pro455Thr)	rs1371497364	0.00001
NM_006950.3(SYN1):c.1519C>A (p.Arg507Ser)	rs2057770942	0.00001
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro)	rs1165799072	0.00001
NM_006950.3(SYN1):c.1713C>T (p.Gly571=)	rs1243624256	0.00001
NM_006950.3(SYN1):c.1820C>T (p.Ala607Val)	rs1339706473	0.00001
NM_006950.3(SYN1):c.184T>G (p.Ser62Ala)	rs1294224206	0.00001
NM_006950.3(SYN1):c.1943C>T (p.Ala648Val)	rs796053397	0.00001
NM_006950.3(SYN1):c.1967C>T (p.Pro656Leu)	rs1391622247	0.00001
NM_006950.3(SYN1):c.218G>C (p.Gly73Ala)	rs1183767661	0.00001
NM_006950.3(SYN1):c.316G>T (p.Ala106Ser)	rs794726957	0.00001
NM_006950.3(SYN1):c.338C>T (p.Ser113Phe)	rs1488258803	0.00001
NM_006950.3(SYN1):c.340A>G (p.Arg114Gly)	rs760804604	0.00001
NM_006950.3(SYN1):c.557G>A (p.Arg186His)	rs1171134481	0.00001
NM_006950.3(SYN1):c.586G>A (p.Gly196Arg)	rs1207640513	0.00001
NM_006950.3(SYN1):c.722C>T (p.Thr241Ile)	rs796053399	0.00001
NM_006950.3(SYN1):c.883G>A (p.Val295Met)	rs1085307749	0.00001
NM_006950.3(SYN1):c.959G>C (p.Gly320Ala)	rs1356850744	0.00001
NC_000023.10:g.(?_47464357)_(47479147_?)dup
NM_006950.3(SYN1):c.1013A>G (p.Asn338Ser)	rs2057777720
NM_006950.3(SYN1):c.101C>T (p.Pro34Leu)	rs2147933524
NM_006950.3(SYN1):c.1025C>A (p.Ala342Glu)
NM_006950.3(SYN1):c.1046T>C (p.Met349Thr)	rs2057777596
NM_006950.3(SYN1):c.1055+5G>A	rs1479589627
NM_006950.3(SYN1):c.1072G>A (p.Asp358Asn)
NM_006950.3(SYN1):c.1093G>A (p.Gly365Arg)	rs2147913172
NM_006950.3(SYN1):c.1110C>G (p.Cys370Trp)	rs141925310
NM_006950.3(SYN1):c.112_126del (p.His38_Ala42del)	rs2057941937
NM_006950.3(SYN1):c.1158+8C>T
NM_006950.3(SYN1):c.1159-6C>T	rs2057774148
NM_006950.3(SYN1):c.1161G>A (p.Val387=)	rs2057774095
NM_006950.3(SYN1):c.1176G>A (p.Met392Ile)
NM_006950.3(SYN1):c.1200T>G (p.Asp400Glu)	rs2057773904
NM_006950.3(SYN1):c.1202A>T (p.Glu401Val)
NM_006950.3(SYN1):c.121G>A (p.Gly41Arg)	rs2057941966
NM_006950.3(SYN1):c.1228G>A (p.Val410Met)
NM_006950.3(SYN1):c.1228G>T (p.Val410Leu)
NM_006950.3(SYN1):c.1258C>G (p.Arg420Gly)	rs780269723
NM_006950.3(SYN1):c.1265G>A (p.Arg422Gln)
NM_006950.3(SYN1):c.1269G>T (p.Gln423His)
NM_006950.3(SYN1):c.1269_1270delinsTT (p.Gln423_Arg424delinsHisTrp)	rs2057773624
NM_006950.3(SYN1):c.1271G>A (p.Arg424Gln)
NM_006950.3(SYN1):c.1310C>A (p.Pro437Gln)
NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu)	rs1603050776
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr)	rs772106134
NM_006950.3(SYN1):c.1330T>G (p.Leu444Val)
NM_006950.3(SYN1):c.1331_1336del (p.Leu444_Arg446delinsCys)
NM_006950.3(SYN1):c.1342A>T (p.Thr448Ser)
NM_006950.3(SYN1):c.1354C>T (p.Pro452Ser)	rs2147912470
NM_006950.3(SYN1):c.1355C>T (p.Pro452Leu)	rs2147912468
NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser)	rs1371497364
NM_006950.3(SYN1):c.1394-7C>A	rs1411087897
NM_006950.3(SYN1):c.139G>A (p.Gly47Arg)	rs1477670336
NM_006950.3(SYN1):c.1414C>T (p.Pro472Ser)	rs797046019
NM_006950.3(SYN1):c.1435C>A (p.Pro479Thr)
NM_006950.3(SYN1):c.1439C>T (p.Pro480Leu)
NM_006950.3(SYN1):c.1460C>T (p.Pro487Leu)	rs2147912337
NM_006950.3(SYN1):c.1490G>A (p.Gly497Glu)	rs2147912324
NM_006950.3(SYN1):c.1538C>T (p.Ser513Leu)
NM_006950.3(SYN1):c.1556C>T (p.Ala519Val)
NM_006950.3(SYN1):c.1568C>T (p.Ala523Val)	rs1341949224
NM_006950.3(SYN1):c.1571C>T (p.Pro524Leu)	rs2057770771
NM_006950.3(SYN1):c.1577C>T (p.Thr526Ile)	rs2147912281
NM_006950.3(SYN1):c.1592G>A (p.Arg531His)	rs2147912269
NM_006950.3(SYN1):c.1600C>T (p.Arg534Trp)
NM_006950.3(SYN1):c.1609G>A (p.Ala537Thr)	rs1603050507
NM_006950.3(SYN1):c.1646C>T (p.Pro549Leu)
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)	rs397514680
NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe)	rs2057770383
NM_006950.3(SYN1):c.1654C>T (p.Pro552Ser)
NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu)	rs913197225
NM_006950.3(SYN1):c.1673C>T (p.Ala558Val)	rs2147912173
NM_006950.3(SYN1):c.1682C>G (p.Pro561Arg)	rs2147912162
NM_006950.3(SYN1):c.169G>A (p.Val57Ile)	rs1200321961
NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser)	rs1284009431
NM_006950.3(SYN1):c.1715C>A (p.Pro572Gln)
NM_006950.3(SYN1):c.1726A>G (p.Lys576Glu)
NM_006950.3(SYN1):c.1739C>T (p.Ala580Val)	rs2057769764
NM_006950.3(SYN1):c.1754A>G (p.Gln585Arg)
NM_006950.3(SYN1):c.1759C>T (p.Arg587Cys)
NM_006950.3(SYN1):c.1820C>A (p.Ala607Glu)	rs1339706473
NM_006950.3(SYN1):c.1820C>G (p.Ala607Gly)
NM_006950.3(SYN1):c.1822G>T (p.Gly608Cys)
NM_006950.3(SYN1):c.1837A>C (p.Thr613Pro)	rs1603050300
NM_006950.3(SYN1):c.1855C>A (p.Gln619Lys)	rs1160768934
NM_006950.3(SYN1):c.185C>T (p.Ser62Phe)
NM_006950.3(SYN1):c.1864C>T (p.Arg622Trp)
NM_006950.3(SYN1):c.187C>G (p.Pro63Ala)
NM_006950.3(SYN1):c.1905G>T (p.Gln635His)
NM_006950.3(SYN1):c.1946C>T (p.Thr649Ile)
NM_006950.3(SYN1):c.1964C>T (p.Pro655Leu)	rs1333198986
NM_006950.3(SYN1):c.1966C>T (p.Pro656Ser)
NM_006950.3(SYN1):c.1970A>C (p.His657Pro)	rs992542097
NM_006950.3(SYN1):c.1972C>T (p.Pro658Ser)	rs755832757
NM_006950.3(SYN1):c.1976A>G (p.Gln659Arg)
NM_006950.3(SYN1):c.1982+10C>A	rs752321936
NM_006950.3(SYN1):c.2023C>T (p.Pro675Ser)	rs2057764675
NM_006950.3(SYN1):c.2044C>T (p.Leu682Phe)	rs2147911481
NM_006950.3(SYN1):c.236C>T (p.Ser79Leu)
NM_006950.3(SYN1):c.250G>A (p.Val84Ile)
NM_006950.3(SYN1):c.260C>A (p.Thr87Asn)	rs2147933414
NM_006950.3(SYN1):c.272C>T (p.Ala91Val)	rs2147933405
NM_006950.3(SYN1):c.301G>T (p.Gly101Cys)
NM_006950.3(SYN1):c.310G>A (p.Gly104Arg)	rs2057941013
NM_006950.3(SYN1):c.316G>A (p.Ala106Thr)	rs794726957
NM_006950.3(SYN1):c.338C>G (p.Ser113Cys)
NM_006950.3(SYN1):c.350T>C (p.Leu117Pro)	rs1556861785
NM_006950.3(SYN1):c.376T>A (p.Trp126Arg)	rs1556861783
NM_006950.3(SYN1):c.377+4A>T	rs2147933325
NM_006950.3(SYN1):c.377+5G>A
NM_006950.3(SYN1):c.377+6C>A
NM_006950.3(SYN1):c.377+6C>G	rs1165500127
NM_006950.3(SYN1):c.405C>G (p.Ile135Met)
NM_006950.3(SYN1):c.42G>C (p.Met14Ile)
NM_006950.3(SYN1):c.435G>A (p.Gln145=)	rs2147928661
NM_006950.3(SYN1):c.472A>C (p.Asn158His)	rs759485248
NM_006950.3(SYN1):c.47A>G (p.Asn16Ser)	rs1289234549
NM_006950.3(SYN1):c.517_525del (p.Lys173_Val175del)	rs2147928561
NM_006950.3(SYN1):c.523G>A (p.Val175Met)
NM_006950.3(SYN1):c.527G>A (p.Arg176Gln)
NM_006950.3(SYN1):c.539C>T (p.Pro180Leu)	rs773013704
NM_006950.3(SYN1):c.548T>C (p.Val183Ala)
NM_006950.3(SYN1):c.553A>G (p.Ile185Val)
NM_006950.3(SYN1):c.581G>A (p.Arg194His)	rs373152478
NM_006950.3(SYN1):c.592T>C (p.Tyr198His)	rs2057893070
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln)	rs2057892972
NM_006950.3(SYN1):c.614_616dup (p.Leu205_Gln206insLeu)
NM_006950.3(SYN1):c.619T>C (p.Tyr207His)
NM_006950.3(SYN1):c.635G>A (p.Ser212Asn)	rs1556860638
NM_006950.3(SYN1):c.684+5_684+8del
NM_006950.3(SYN1):c.685-3T>C	rs2057892214
NM_006950.3(SYN1):c.701G>A (p.Arg234Gln)	rs2057892166
NM_006950.3(SYN1):c.707A>G (p.His236Arg)
NM_006950.3(SYN1):c.755A>T (p.Tyr252Phe)	rs2057891950
NM_006950.3(SYN1):c.774+3G>A	rs2057891910
NM_006950.3(SYN1):c.774G>T (p.Met258Ile)
NM_006950.3(SYN1):c.79C>T (p.Arg27Cys)	rs2057942233
NM_006950.3(SYN1):c.860A>C (p.Asp287Ala)	rs2147913414
NM_006950.3(SYN1):c.88C>G (p.Pro30Ala)	rs2147933540
NM_006950.3(SYN1):c.910G>A (p.Ala304Thr)
NM_006950.3(SYN1):c.913G>A (p.Glu305Lys)
NM_006950.3(SYN1):c.925G>A (p.Asp309Asn)
NM_006950.3(SYN1):c.952A>C (p.Lys318Gln)
NM_006950.3(SYN1):c.953A>C (p.Lys318Thr)	rs2057778186
NM_006950.3(SYN1):c.968A>G (p.Tyr323Cys)
NM_006950.3(SYN1):c.986C>A (p.Thr329Lys)	rs2057777813
NM_006950.3(SYN1):c.986C>T (p.Thr329Met)	rs2057777813
NM_006950.3(SYN1):c.98C>A (p.Pro33Gln)

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