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

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: 82

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HGVS	dbSNP	gnomAD frequency
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)	rs201447781	0.00034
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)	rs367871780	0.00028
NM_144573.4(NEXN):c.1252-11T>G	rs781115798	0.00017
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	rs137853197	0.00011
NM_144573.4(NEXN):c.902T>A (p.Ile301Asn)	rs373878384	0.00011
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)	rs181520023	0.00009
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)	rs199917913	0.00009
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)	rs201806320	0.00007
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys)	rs373778361	0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)	rs369486891	0.00007
NM_144573.4(NEXN):c.250G>A (p.Glu84Lys)	rs547319928	0.00006
NM_144573.4(NEXN):c.687+4A>T	rs754061340	0.00006
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr)	rs749553777	0.00004
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln)	rs373057251	0.00004
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr)	rs754656961	0.00004
NM_144573.4(NEXN):c.967G>A (p.Glu323Lys)	rs1196365963	0.00004
NM_144573.4(NEXN):c.1053+1G>A	rs397517843	0.00003
NM_144573.4(NEXN):c.1733G>C (p.Arg578Thr)	rs374878979	0.00003
NM_144573.4(NEXN):c.817C>T (p.Arg273Cys)	rs757571525	0.00003
NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys)	rs373680705	0.00002
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)	rs373377525	0.00002
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)	rs200442502	0.00001
NM_144573.4(NEXN):c.1469A>G (p.His490Arg)	rs753979244	0.00001
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)	rs727504758	0.00001
NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr)	rs753636624	0.00001
NM_144573.4(NEXN):c.1739G>A (p.Gly580Glu)	rs560530481	0.00001
NM_144573.4(NEXN):c.1784A>G (p.Asp595Gly)	rs1131691984	0.00001
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met)	rs756709134	0.00001
NM_144573.4(NEXN):c.185T>A (p.Ile62Asn)	rs755012232	0.00001
NM_144573.4(NEXN):c.2000G>A (p.Cys667Tyr)	rs794729087	0.00001
NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe)	rs774194309	0.00001
NM_144573.4(NEXN):c.542C>T (p.Thr181Ile)	rs764640427	0.00001
NM_144573.4(NEXN):c.64T>A (p.Tyr22Asn)	rs1553236590	0.00001
NM_144573.4(NEXN):c.65A>G (p.Tyr22Cys)	rs1057518512	0.00001
NM_144573.4(NEXN):c.680T>C (p.Leu227Ser)	rs756273801	0.00001
NM_144573.4(NEXN):c.767G>A (p.Arg256Gln)	rs748921688	0.00001
NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)	rs765051104	0.00001
NM_144573.3(NEXN):c.2026_*1del	rs794729094
NM_144573.4(NEXN):c.1002_1004del (p.Arg336del)	rs794729090
NM_144573.4(NEXN):c.1028C>T (p.Ala343Val)	rs769073940
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)	rs755252743
NM_144573.4(NEXN):c.1094C>G (p.Ser365Cys)	rs772491358
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)	rs200067011
NM_144573.4(NEXN):c.1143A>T (p.Leu381Phe)	rs2102146601
NM_144573.4(NEXN):c.1232T>A (p.Leu411Gln)	rs2102147101
NM_144573.4(NEXN):c.1249G>A (p.Glu417Lys)
NM_144573.4(NEXN):c.125G>A (p.Arg42Lys)
NM_144573.4(NEXN):c.1384_1387del (p.Glu462fs)	rs2102155747
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)	rs397517846
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)	rs794729091
NM_144573.4(NEXN):c.1426G>A (p.Ala476Thr)
NM_144573.4(NEXN):c.1445_1446del (p.Lys482fs)	rs794729092
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly)	rs397517847
NM_144573.4(NEXN):c.1478ATG[1] (p.Asp494del)	rs1064796362
NM_144573.4(NEXN):c.1498G>A (p.Ala500Thr)	rs1193200803
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)	rs764505909
NM_144573.4(NEXN):c.1589GAA[1] (p.Arg531del)	rs754350672
NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs)	rs869025492
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)	rs397517848
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup)	rs397517848
NM_144573.4(NEXN):c.1684G>C (p.Glu562Gln)	rs794729085
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del)	rs397517851
NM_144573.4(NEXN):c.176A>G (p.Glu59Gly)	rs1219781969
NM_144573.4(NEXN):c.178C>T (p.Gln60Ter)	rs1649088164
NM_144573.4(NEXN):c.1802T>G (p.Phe601Cys)	rs2102181052
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del)	rs876657928
NM_144573.4(NEXN):c.1850T>G (p.Phe617Cys)
NM_144573.4(NEXN):c.1878dup (p.Asp627fs)	rs2102181621
NM_144573.4(NEXN):c.1911C>A (p.Tyr637Ter)	rs772833406
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs)	rs1222794437
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)	rs397517853
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter)	rs999958582
NM_144573.4(NEXN):c.450T>A (p.Ile150=)	rs1064797051
NM_144573.4(NEXN):c.542C>A (p.Thr181Lys)	rs764640427
NM_144573.4(NEXN):c.571del (p.Asp191fs)	rs794729089
NM_144573.4(NEXN):c.582A>T (p.Lys194Asn)	rs2102123630
NM_144573.4(NEXN):c.609G>C (p.Lys203Asn)
NM_144573.4(NEXN):c.62C>T (p.Thr21Ile)	rs794729081
NM_144573.4(NEXN):c.644A>G (p.Gln215Arg)	rs2102123963
NM_144573.4(NEXN):c.785G>A (p.Arg262Gln)	rs369941497
NM_144573.4(NEXN):c.848A>T (p.Glu283Val)	rs374691663
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)	rs727505124

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