ClinVar Miner

List of variants in gene SYNE1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 81
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HGVS dbSNP
GRCh37/hg19 6q25.2(chr6:152613587-152772375)x1
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His) rs779366372
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln) rs143673038
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys) rs879779013
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=) rs1057518265
NM_182961.4(SYNE1):c.12342_12350del (p.Glu4115_Thr4117del) rs749906433
NM_182961.4(SYNE1):c.12707T>G (p.Leu4236Arg) rs1554479643
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val) rs151250199
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys) rs778601377
NM_182961.4(SYNE1):c.13468A>G (p.Ser4490Gly) rs1194823767
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464
NM_182961.4(SYNE1):c.13851_13853TCT[1] (p.Leu4620del) rs1085307610
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr) rs1346910826
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn) rs780677467
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly) rs375432465
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154
NM_182961.4(SYNE1):c.16249A>G (p.Ile5417Val) rs528055779
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His) rs370002959
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr) rs138509817
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.16985G>A (p.Arg5662His) rs144895914
NM_182961.4(SYNE1):c.17260A>T (p.Ile5754Leu) rs1044270413
NM_182961.4(SYNE1):c.17533G>A (p.Val5845Met) rs535699185
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser) rs767508394
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly) rs780920250
NM_182961.4(SYNE1):c.18082C>A (p.Leu6028Met) rs1554341677
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279
NM_182961.4(SYNE1):c.18574-11G>A rs1477560269
NM_182961.4(SYNE1):c.18974T>C (p.Leu6325Pro) rs201361687
NM_182961.4(SYNE1):c.19169C>A (p.Thr6390Asn) rs1554285228
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669
NM_182961.4(SYNE1):c.19300G>T (p.Asp6434Tyr) rs1348758893
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu) rs138707300
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His) rs760706012
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser) rs1321824454
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716
NM_182961.4(SYNE1):c.21861C>T (p.Asn7287=) rs372155442
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098
NM_182961.4(SYNE1):c.22282A>C (p.Lys7428Gln) rs771618181
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His) rs752057121
NM_182961.4(SYNE1):c.23358T>A (p.Ser7786Arg) rs748682472
NM_182961.4(SYNE1):c.23645A>G (p.Glu7882Gly) rs1057518415
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys) rs1554441768
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His) rs1042685641
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr) rs1007703591
NM_182961.4(SYNE1):c.3494G>A (p.Arg1165His) rs201354687
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu) rs201354687
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys) rs754120599
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg) rs573641821
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) rs201366911
NM_182961.4(SYNE1):c.656C>T (p.Ala219Val) rs886043077
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly) rs545685387
NM_182961.4(SYNE1):c.9000C>A (p.His3000Gln) rs1057524475
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941
NM_182961.4(SYNE1):c.9325G>C (p.Glu3109Gln) rs776421373
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr) rs756079906
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val) rs146402274
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087

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