ClinVar Miner

List of variants in gene SYNE1 reported as pathogenic

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Total variants: 73
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HGVS dbSNP
NM_033071.3(SYNE1):c.1042G>T (p.Glu348Ter) rs1203553546
NM_033071.3(SYNE1):c.10464+1G>T rs886042799
NM_033071.3(SYNE1):c.10789C>T (p.Arg3597Ter) rs606231292
NM_033071.3(SYNE1):c.11696_11697del (p.Met3899fs) rs606231135
NM_033071.3(SYNE1):c.11908C>T (p.Arg3970Ter) rs886043963
NM_033071.3(SYNE1):c.1390del (p.Asp464fs) rs1554768245
NM_033071.3(SYNE1):c.14431C>T (p.Arg4811Ter) rs375077588
NM_033071.3(SYNE1):c.15872_15879del (p.Ile5291fs) rs1554440887
NM_033071.3(SYNE1):c.16177-2A>C rs759460806
NM_033071.3(SYNE1):c.16177-2A>G
NM_033071.3(SYNE1):c.16208C>A (p.Ser5403Ter) rs797046024
NM_033071.3(SYNE1):c.17002C>T (p.Gln5668Ter)
NM_033071.3(SYNE1):c.17016T>G (p.Tyr5672Ter) rs377344899
NM_033071.3(SYNE1):c.17603_17607del (p.Asp5868fs) rs794727986
NM_033071.3(SYNE1):c.18469C>T (p.Gln6157Ter) rs910956017
NM_033071.3(SYNE1):c.18525_18526TC[1] (p.Leu6176fs) rs886042657
NM_033071.3(SYNE1):c.19010T>A (p.Leu6337Ter) rs758337239
NM_033071.3(SYNE1):c.1933C>T (p.Gln645Ter) rs1554756035
NM_033071.3(SYNE1):c.20839G>T (p.Glu6947Ter) rs1554246434
NM_033071.3(SYNE1):c.20935C>T (p.Arg6979Ter) rs763325410
NM_033071.3(SYNE1):c.21519C>A (p.Tyr7173Ter) rs1554226673
NM_033071.3(SYNE1):c.21528C>A (p.Tyr7176Ter)
NM_033071.3(SYNE1):c.21721C>T (p.Gln7241Ter) rs886042421
NM_033071.3(SYNE1):c.22195G>T (p.Glu7399Ter) rs1554573328
NM_033071.3(SYNE1):c.22788dup (p.Leu7597fs) rs1554553667
NM_033071.3(SYNE1):c.22807-1G>A rs1554544827
NM_033071.3(SYNE1):c.22858_22886del (p.Thr7620fs) rs886043645
NM_033071.3(SYNE1):c.23248-1G>A
NM_033071.3(SYNE1):c.23279del (p.Glu7760fs) rs1554491478
NM_033071.3(SYNE1):c.23766-2A>G rs1362058277
NM_033071.3(SYNE1):c.23914G>T (p.Glu7972Ter) rs1057520552
NM_033071.3(SYNE1):c.24008C>G (p.Ser8003Ter)
NM_033071.3(SYNE1):c.24364C>T (p.Arg8122Ter) rs760715690
NM_033071.3(SYNE1):c.24865C>T (p.Gln8289Ter) rs797046025
NM_033071.3(SYNE1):c.3863del (p.Lys1288fs) rs1554709875
NM_033071.3(SYNE1):c.4391_4392CT[1] (p.Leu1465fs) rs794727577
NM_033071.3(SYNE1):c.4534G>T (p.Glu1512Ter)
NM_033071.3(SYNE1):c.4960C>T (p.Gln1654Ter) rs1554681651
NM_033071.3(SYNE1):c.501_502CT[1] (p.Ser167_Ser168insTer) rs1554829141
NM_033071.3(SYNE1):c.5182G>T (p.Glu1728Ter) rs1554676394
NM_033071.3(SYNE1):c.572T>A (p.Leu191Ter)
NM_033071.3(SYNE1):c.660del (p.His221fs) rs1412791793
NM_033071.3(SYNE1):c.6898del (p.Glu2300fs) rs797046026
NM_033071.3(SYNE1):c.8887C>T (p.Gln2963Ter) rs886042954
NM_033071.3(SYNE1):c.8911C>T (p.Gln2971Ter) rs1554588688
NM_182961.3(SYNE1):c.24979del (p.Asp8327Thrfs) rs1562984446
NM_182961.3(SYNE1):c.9973delG (p.Ala3325Leufs) rs1554550339
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.13299del (p.His4433fs) rs1563130387
NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs) rs1563123183
NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter) rs1563118316
NM_182961.4(SYNE1):c.15918-12A>G rs606231134
NM_182961.4(SYNE1):c.18012+1G>T rs1562842409
NM_182961.4(SYNE1):c.18715C>T (p.Gln6239Ter) rs1562643321
NM_182961.4(SYNE1):c.19514dup (p.Tyr6505Ter) rs886043012
NM_182961.4(SYNE1):c.20970del (p.Asp6991fs) rs1554247806
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter) rs119103245
NM_182961.4(SYNE1):c.226-2dup rs774388631
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.24313-2A>G
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.253C>T (p.Arg85Ter)
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) rs1564136499
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) rs1554721227
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) rs1563941569
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
SYNE1, 5-BP DEL, NT334338

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