ClinVar Miner

List of variants in gene PTPN11 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP
NM_002834.3(PTPN11):c.*13A>G rs201957261
NM_002834.4(PTPN11):c.*33-17_*33-13del rs730880991
NM_002834.4(PTPN11):c.*41_*46del rs886048967
NM_002834.4(PTPN11):c.*50C>T rs730880328
NM_002834.4(PTPN11):c.-13G>A rs760374212
NM_002834.4(PTPN11):c.-45T>G rs587781131
NM_002834.4(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622
NM_002834.4(PTPN11):c.1011G>A (p.Thr337=) rs371951288
NM_002834.4(PTPN11):c.1023T>C (p.Phe341=) rs762516252
NM_002834.4(PTPN11):c.1028G>A (p.Arg343Gln) rs535800148
NM_002834.4(PTPN11):c.103A>C (p.Lys35Gln)
NM_002834.4(PTPN11):c.1047C>T (p.Asn349=) rs1222504763
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1051C>T (p.Arg351Ter) rs923052172
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.10C>G (p.Arg4Gly) rs886041517
NM_002834.4(PTPN11):c.1112G>A (p.Trp371Ter) rs1555270113
NM_002834.4(PTPN11):c.115G>A (p.Gly39Arg) rs886041585
NM_002834.4(PTPN11):c.1162G>A (p.Val388Ile) rs749523268
NM_002834.4(PTPN11):c.1173C>T (p.Ser391=)
NM_002834.4(PTPN11):c.1181A>G (p.His394Arg) rs1415532476
NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) rs767503386
NM_002834.4(PTPN11):c.1224+15G>A rs373271861
NM_002834.4(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699
NM_002834.4(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.4(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.4(PTPN11):c.1278C>T (p.His426=) rs886038519
NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.4(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.4(PTPN11):c.1282G>A (p.Val428Met) rs397507536
NM_002834.4(PTPN11):c.132C>A (p.Ser44=) rs397507502
NM_002834.4(PTPN11):c.132C>T (p.Ser44=) rs397507502
NM_002834.4(PTPN11):c.137+49A>T rs761259292
NM_002834.4(PTPN11):c.1379+20C>T rs184743462
NM_002834.4(PTPN11):c.1379+273G>A
NM_002834.4(PTPN11):c.138-181G>C
NM_002834.4(PTPN11):c.138-4T>G rs959868124
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1402A>C (p.Thr468Pro) rs397507537
NM_002834.4(PTPN11):c.1402_1403delinsGA (p.Thr468Glu) rs886039711
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1404G>C (p.Thr468=) rs587781130
NM_002834.4(PTPN11):c.1436T>C (p.Ile479Thr) rs1555270590
NM_002834.4(PTPN11):c.1448-8C>T rs1555270633
NM_002834.4(PTPN11):c.1460A>G (p.Asp487Gly) rs730880994
NM_002834.4(PTPN11):c.1467C>T (p.Asp489=) rs539373294
NM_002834.4(PTPN11):c.1468G>A (p.Val490Ile)
NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.4(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.4(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.4(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.4(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.4(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.4(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.4(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.4(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) rs397509345
NM_002834.4(PTPN11):c.1520C>A (p.Thr507Lys) rs886039463
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.1569A>C (p.Glu523Asp) rs1566186902
NM_002834.4(PTPN11):c.1599+229G>A
NM_002834.4(PTPN11):c.1599+293C>T
NM_002834.4(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.4(PTPN11):c.1628C>T (p.Thr543Ile) rs1057520397
NM_002834.4(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907
NM_002834.4(PTPN11):c.1649C>T (p.Ala550Val) rs767712281
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1661G>A (p.Ser554Asn) rs1555271397
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.1696A>T (p.Thr566Ser)
NM_002834.4(PTPN11):c.1697C>T (p.Thr566Met) rs150730493
NM_002834.4(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.4(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.4(PTPN11):c.172A>T (p.Asn58Tyr) rs397507505
NM_002834.4(PTPN11):c.173A>G (p.Asn58Ser) rs751437780
NM_002834.4(PTPN11):c.1740T>C (p.Tyr580=) rs139188627
NM_002834.4(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.4(PTPN11):c.178G>C (p.Gly60Arg) rs397507507
NM_002834.4(PTPN11):c.178G>T (p.Gly60Cys) rs397507507
NM_002834.4(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) rs397507508
NM_002834.4(PTPN11):c.180_181delinsAA (p.Asp61Asn) rs1057517935
NM_002834.4(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.4(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.4(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.188_189delinsGC (p.Tyr63Cys) rs1057517917
NM_002834.4(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.211T>G (p.Phe71Val) rs397507512
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.217A>C (p.Thr73Pro) rs397507513
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.226G>C (p.Glu76Gln) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.4(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.244A>G (p.Met82Val) rs397507515
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.289G>C (p.Glu97Gln) rs397507516
NM_002834.4(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.4(PTPN11):c.330A>C (p.Glu110Asp) rs1566167244
NM_002834.4(PTPN11):c.332+17T>G rs115658366
NM_002834.4(PTPN11):c.333-223A>G
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.333-4T>C rs1555267812
NM_002834.4(PTPN11):c.346C>A (p.His116Asn)
NM_002834.4(PTPN11):c.369G>T (p.Glu123Asp) rs755619262
NM_002834.4(PTPN11):c.372A>G (p.Lys124=) rs1035774225
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.440T>G (p.Phe147Cys) rs1179862540
NM_002834.4(PTPN11):c.455G>A (p.Arg152His) rs397507521
NM_002834.4(PTPN11):c.461G>C (p.Gly154Ala) rs376027245
NM_002834.4(PTPN11):c.486C>T (p.Asp162=) rs397507522
NM_002834.4(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_002834.4(PTPN11):c.505del (p.His169fs) rs1566168783
NM_002834.4(PTPN11):c.518G>C (p.Arg173Pro) rs369155025
NM_002834.4(PTPN11):c.525+12G>C rs41304351
NM_002834.4(PTPN11):c.526-11T>C rs1555267925
NM_002834.4(PTPN11):c.526-17T>C rs375184329
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.537C>T (p.Tyr179=) rs141015445
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.4(PTPN11):c.562G>C (p.Asp188His) rs1555267939
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.4(PTPN11):c.642G>A (p.Gln214=) rs876661383
NM_002834.4(PTPN11):c.643-340T>C
NM_002834.4(PTPN11):c.661A>G (p.Ile221Val) rs397516806
NM_002834.4(PTPN11):c.66A>G (p.Thr22=) rs397516808
NM_002834.4(PTPN11):c.683G>T (p.Ser228Ile) rs748085966
NM_002834.4(PTPN11):c.701G>A (p.Ser234Asn) rs730881220
NM_002834.4(PTPN11):c.762_764ACA[4] (p.Gln257dup) rs397507524
NM_002834.4(PTPN11):c.766C>A (p.Gln256Lys) rs1391791847
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.4(PTPN11):c.788A>G (p.Tyr263Cys)
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.794G>T (p.Arg265Leu)
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_002834.4(PTPN11):c.845T>C (p.Ile282Thr) rs886041495
NM_002834.4(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.4(PTPN11):c.853+17C>T rs746692191
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.854-19T>G rs751780145
NM_002834.4(PTPN11):c.854-223C>T
NM_002834.4(PTPN11):c.854-32A>C rs187389813
NM_002834.4(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.4(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.4(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.4(PTPN11):c.879C>G (p.His293Gln) rs117730996
NM_002834.4(PTPN11):c.879C>T (p.His293=) rs117730996
NM_002834.4(PTPN11):c.893A>G (p.Asn298Ser) rs572274623
NM_002834.4(PTPN11):c.913A>G (p.Ile305Val) rs730880995
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002834.4(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002834.4(PTPN11):c.931A>G (p.Met311Val) rs774939392
NM_002834.4(PTPN11):c.933+11C>T rs397507532
NM_002834.4(PTPN11):c.934-12C>T rs730880990
NM_002834.4(PTPN11):c.990A>C (p.Thr330=) rs369739920
NM_002834.4(PTPN11):c.996C>T (p.Gly332=) rs397507533
NM_002834.4(PTPN11):c.997T>A (p.Cys333Ser) rs730880993

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