ClinVar Miner

List of variants in gene MEN1 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP
NM_000244.3(MEN1):c.*412G>A rs972128957
NM_000244.3(MEN1):c.*470A>G rs778272737
NM_000244.3(MEN1):c.1028T>C (p.Leu343Pro) rs1114167480
NM_000244.3(MEN1):c.1028dup (p.Gln344fs) rs386134245
NM_000244.3(MEN1):c.1064+1G>C rs1114167489
NM_000244.3(MEN1):c.1064+2T>C rs1555164946
NM_000244.3(MEN1):c.1078del (p.Arg360fs) rs386134246
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.1117G>A (p.Ala373Thr) rs1114167473
NM_000244.3(MEN1):c.1117G>C (p.Ala373Pro) rs1114167473
NM_000244.3(MEN1):c.1132C>G (p.Pro378Ala) rs794728627
NM_000244.3(MEN1):c.1132C>T (p.Pro378Ser)
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.1142T>C (p.Leu381Pro) rs1114167471
NM_000244.3(MEN1):c.1189dup (p.Glu397fs) rs386134247
NM_000244.3(MEN1):c.125G>T (p.Gly42Val) rs1565652689
NM_000244.3(MEN1):c.1273A>T (p.Ile425Phe) rs1114167526
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1296T>A (p.Ser432Arg) rs1114167528
NM_000244.3(MEN1):c.1323G>T (p.Trp441Cys) rs398124435
NM_000244.3(MEN1):c.1326dup (p.Thr443fs) rs1555164184
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1343C>A (p.Ser448Tyr) rs1060499981
NM_000244.3(MEN1):c.134A>G (p.Glu45Gly)
NM_000244.3(MEN1):c.1365+2T>C rs1555164115
NM_000244.3(MEN1):c.1366-1G>A rs794728629
NM_000244.3(MEN1):c.1366-1G>C rs794728629
NM_000244.3(MEN1):c.1366-2A>G rs1060499986
NM_000244.3(MEN1):c.1406del (p.Ala469fs) rs1555163858
NM_000244.3(MEN1):c.1594C>T (p.Arg532Ter) rs104894261
NM_000244.3(MEN1):c.1617_1633del (p.Ala540fs) rs794728660
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.1682_1684AGA[1] (p.Lys562del) rs794728661
NM_000244.3(MEN1):c.1684A>G (p.Lys562Glu) rs1114167517
NM_000244.3(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_000244.3(MEN1):c.1723_1743del (p.Ile575_Lys581del) rs1555163115
NM_000244.3(MEN1):c.1740del (p.Lys581fs) rs1555163124
NM_000244.3(MEN1):c.1745T>C (p.Leu582Pro) rs794728634
NM_000244.3(MEN1):c.1754del (p.Thr585fs) rs864622617
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_000244.3(MEN1):c.245_259del (p.Asp82_Ile86del) rs1555166508
NM_000244.3(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_000244.3(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_000244.3(MEN1):c.35C>T (p.Pro12Leu) rs794728614
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000244.3(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_000244.3(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_000244.3(MEN1):c.461-2A>G rs886042035
NM_000244.3(MEN1):c.480_481insAATT (p.Gly161fs) rs386134255
NM_000244.3(MEN1):c.481G>C (p.Gly161Arg) rs1085307471
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.529G>T (p.Asp177Tyr) rs1114167494
NM_000244.3(MEN1):c.530A>T (p.Asp177Val) rs794728618
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.550G>A (p.Glu184Lys) rs1064793167
NM_000244.3(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_000244.3(MEN1):c.664_669+2del rs386134258
NM_000244.3(MEN1):c.670-15_673del
NM_000244.3(MEN1):c.673T>C (p.Trp225Arg) rs1085307971
NM_000244.3(MEN1):c.683T>C (p.Leu228Pro) rs886039415
NM_000244.3(MEN1):c.688G>A (p.Gly230Arg) rs1057521110
NM_000244.3(MEN1):c.699del (p.Met233fs) rs1064795635
NM_000244.3(MEN1):c.703T>C (p.Cys235Arg) rs1555165570
NM_000244.3(MEN1):c.718G>A (p.Glu240Lys) rs1114167488
NM_000244.3(MEN1):c.736T>C (p.Cys246Arg)
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) rs386134259
NM_000244.3(MEN1):c.777_783dup (p.Leu262fs) rs1555165488
NM_000244.3(MEN1):c.788_790dup (p.Gln263dup) rs1057517760
NM_000244.3(MEN1):c.798+1G>A rs794728652
NM_000244.3(MEN1):c.798+2T>G rs1057524571
NM_000244.3(MEN1):c.799-1G>C rs1555165377
NM_000244.3(MEN1):c.803T>C (p.Leu268Pro) rs1114167502
NM_000244.3(MEN1):c.839+1G>C rs1060499976
NM_000244.3(MEN1):c.839+5G>A rs1064793398
NM_000244.3(MEN1):c.840-1G>A rs1114167505
NM_000244.3(MEN1):c.845C>A (p.Pro282His) rs1060499973
NM_000244.3(MEN1):c.856G>A (p.Gly286Arg) rs1114167493
NM_000244.3(MEN1):c.866C>A (p.Ala289Glu) rs1565645563
NM_000244.3(MEN1):c.927+1G>C rs398124437
NM_000244.3(MEN1):c.928-2A>G rs1114167498
NM_000244.3(MEN1):c.937T>C (p.Ser313Pro) rs1064793169
NM_000244.3(MEN1):c.965A>G (p.His322Arg) rs1114167495
NM_000244.3(MEN1):c.970dup (p.Tyr324fs) rs386134261
NM_000244.3(MEN1):c.996_1021del (p.Tyr332_Glu341delinsTer) rs1555165008
NM_130799.2(MEN1):c.1174del (p.Glu392fs) rs386134247

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