List of variants in gene IQSEC2 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: 100

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HGVS	dbSNP	gnomAD frequency
NM_001111125.3(IQSEC2):c.3242C>T (p.Ala1081Val)	rs782715847	0.00006
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu)	rs1057518272	0.00003
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=)	rs1167090163	0.00003
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)	rs1449945045	0.00003
NM_001111125.3(IQSEC2):c.635G>A (p.Ser212Asn)	rs899393047	0.00003
NM_001111125.3(IQSEC2):c.1657C>T (p.Pro553Ser)	rs781876521	0.00002
NM_001111125.3(IQSEC2):c.2064C>T (p.Gly688=)	rs782766118	0.00002
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln)	rs782632137	0.00002
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr)	rs782559635	0.00002
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu)	rs1556858927	0.00002
NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met)	rs1064796639	0.00002
NM_001111125.3(IQSEC2):c.125G>A (p.Arg42Gln)	rs1397379867	0.00001
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln)	rs369172518	0.00001
NM_001111125.3(IQSEC2):c.2206C>T (p.Arg736Trp)	rs1057524271	0.00001
NM_001111125.3(IQSEC2):c.3082G>A (p.Val1028Met)	rs1085307618	0.00001
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys)	rs782569979	0.00001
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn)	rs1556859667	0.00001
NM_001111125.3(IQSEC2):c.3439C>A (p.Leu1147Ile)	rs2074129057	0.00001
NM_001111125.3(IQSEC2):c.3548C>T (p.Pro1183Leu)	rs1302692296	0.00001
NM_001111125.3(IQSEC2):c.496C>G (p.Leu166Val)	rs1321322513	0.00001
NM_001111125.3(IQSEC2):c.1157C>T (p.Ser386Phe)
NM_001111125.3(IQSEC2):c.1165C>T (p.Arg389Trp)	rs1556864680
NM_001111125.3(IQSEC2):c.1219G>A (p.Glu407Lys)
NM_001111125.3(IQSEC2):c.1247G>T (p.Gly416Val)	rs2147121696
NM_001111125.3(IQSEC2):c.1294T>A (p.Tyr432Asn)
NM_001111125.3(IQSEC2):c.1307G>A (p.Cys436Tyr)	rs2147120894
NM_001111125.3(IQSEC2):c.1346C>T (p.Thr449Ile)	rs2147120613
NM_001111125.3(IQSEC2):c.1377A>C (p.Glu459Asp)	rs2147120382
NM_001111125.3(IQSEC2):c.1429G>A (p.Glu477Lys)	rs2147104281
NM_001111125.3(IQSEC2):c.1451C>T (p.Ser484Leu)
NM_001111125.3(IQSEC2):c.1483C>A (p.Gln495Lys)	rs2147103761
NM_001111125.3(IQSEC2):c.1583C>A (p.Ser528Tyr)
NM_001111125.3(IQSEC2):c.1610C>A (p.Pro537His)	rs2147102528
NM_001111125.3(IQSEC2):c.163A>G (p.Thr55Ala)
NM_001111125.3(IQSEC2):c.1654C>A (p.Pro552Thr)	rs1064797066
NM_001111125.3(IQSEC2):c.1655C>A (p.Pro552Gln)
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala)	rs1556863347
NM_001111125.3(IQSEC2):c.1691A>C (p.Glu564Ala)	rs2147100909
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
NM_001111125.3(IQSEC2):c.1744C>T (p.Arg582Trp)	rs1064797067
NM_001111125.3(IQSEC2):c.1861T>G (p.Tyr621Asp)
NM_001111125.3(IQSEC2):c.1925C>T (p.Pro642Leu)
NM_001111125.3(IQSEC2):c.1927A>C (p.Ile643Leu)
NM_001111125.3(IQSEC2):c.1963GCCCCA[3] (p.Pro658_Pro659insAlaPro)
NM_001111125.3(IQSEC2):c.2002A>G (p.Ser668Gly)	rs1556863103
NM_001111125.3(IQSEC2):c.2012G>A (p.Gly671Glu)
NM_001111125.3(IQSEC2):c.2054A>T (p.Glu685Val)
NM_001111125.3(IQSEC2):c.2209G>A (p.Glu737Lys)
NM_001111125.3(IQSEC2):c.2329G>A (p.Glu777Lys)	rs782517076
NM_001111125.3(IQSEC2):c.235G>A (p.Ala79Thr)	rs2146551860
NM_001111125.3(IQSEC2):c.2369A>C (p.His790Pro)	rs2147089327
NM_001111125.3(IQSEC2):c.23C>G (p.Pro8Arg)	rs1556880353
NM_001111125.3(IQSEC2):c.2475G>C (p.Glu825Asp)
NM_001111125.3(IQSEC2):c.2533C>T (p.Arg845Trp)
NM_001111125.3(IQSEC2):c.254G>A (p.Arg85His)	rs1556880243
NM_001111125.3(IQSEC2):c.2680G>A (p.Asp894Asn)	rs1602277527
NM_001111125.3(IQSEC2):c.2759A>G (p.Asn920Ser)
NM_001111125.3(IQSEC2):c.2811G>C (p.Gln937His)	rs781835138
NM_001111125.3(IQSEC2):c.2866C>T (p.Arg956Cys)	rs2147059598
NM_001111125.3(IQSEC2):c.2890-3T>G	rs2147050192
NM_001111125.3(IQSEC2):c.2908C>T (p.Arg970Cys)	rs2074227300
NM_001111125.3(IQSEC2):c.2956C>T (p.Arg986Cys)	rs1556860910
NM_001111125.3(IQSEC2):c.2979T>G (p.His993Gln)	rs2147049519
NM_001111125.3(IQSEC2):c.3032AGA[3] (p.Lys1014del)	rs1556860396
NM_001111125.3(IQSEC2):c.3055T>C (p.Tyr1019His)
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)	rs868984872
NM_001111125.3(IQSEC2):c.339C>A (p.Asp113Glu)
NM_001111125.3(IQSEC2):c.3457C>T (p.Arg1153Trp)	rs2147010353
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)	rs2074117985
NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)
NM_001111125.3(IQSEC2):c.3475G>A (p.Val1159Met)	rs2147010117
NM_001111125.3(IQSEC2):c.3533A>G (p.Gln1178Arg)	rs2147006326
NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile)	rs2147004930
NM_001111125.3(IQSEC2):c.3913T>G (p.Ser1305Ala)
NM_001111125.3(IQSEC2):c.3931G>A (p.Ala1311Thr)
NM_001111125.3(IQSEC2):c.3958C>T (p.Arg1320Cys)	rs1556859104
NM_001111125.3(IQSEC2):c.4000T>C (p.Tyr1334His)	rs2147002472
NM_001111125.3(IQSEC2):c.4093A>C (p.Thr1365Pro)	rs2147001902
NM_001111125.3(IQSEC2):c.409G>A (p.Ala137Thr)	rs2146550740
NM_001111125.3(IQSEC2):c.4127A>C (p.Gln1376Pro)
NM_001111125.3(IQSEC2):c.4174C>T (p.His1392Tyr)
NM_001111125.3(IQSEC2):c.4348T>C (p.Ser1450Pro)
NM_001111125.3(IQSEC2):c.4430C>T (p.Pro1477Leu)	rs2146999756
NM_001111125.3(IQSEC2):c.4433del (p.Lys1478fs)
NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)
NM_001111125.3(IQSEC2):c.445G>A (p.Ala149Thr)	rs1556880140
NM_001111125.3(IQSEC2):c.4465T>A (p.Ter1489Arg)	rs2146999591
NM_001111125.3(IQSEC2):c.44G>C (p.Ser15Thr)
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met)	rs2075421767
NM_001111125.3(IQSEC2):c.503G>T (p.Arg168Leu)	rs1057518254
NM_001111125.3(IQSEC2):c.587C>A (p.Pro196Gln)	rs2075419503
NM_001111125.3(IQSEC2):c.713A>T (p.Asp238Val)	rs2146425989
NM_001111125.3(IQSEC2):c.827C>A (p.Pro276His)
NM_001111125.3(IQSEC2):c.836G>A (p.Ser279Asn)	rs2147128288
NM_001111125.3(IQSEC2):c.850C>A (p.Pro284Thr)	rs782531514
NM_001111125.3(IQSEC2):c.883C>T (p.Arg295Trp)	rs2147127878
NM_001111125.3(IQSEC2):c.889C>T (p.Arg297Cys)	rs990189482
NM_001111125.3(IQSEC2):c.908T>G (p.Val303Gly)
NM_001111125.3(IQSEC2):c.952G>T (p.Ala318Ser)
NM_001243197.2(IQSEC2):c.73G>C (p.Val25Leu)

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