ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance for RASopathy

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 323
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.*325G>A rs192080780 0.00304
NM_002834.5(PTPN11):c.-77G>A rs766412799 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_002834.5(PTPN11):c.*799G>A rs745319452 0.00062
NM_002834.5(PTPN11):c.*4019C>T rs886048982 0.00051
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002834.5(PTPN11):c.*3971A>G rs572565511 0.00044
NM_002834.5(PTPN11):c.*2150G>T rs756441720 0.00039
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_002834.5(PTPN11):c.*687C>T rs748512308 0.00020
NM_002834.5(PTPN11):c.*1806G>A rs766598691 0.00016
NM_002834.5(PTPN11):c.*720C>T rs770605810 0.00015
NM_002834.5(PTPN11):c.*2731G>A rs768622106 0.00013
NM_002834.5(PTPN11):c.*50C>T rs730880328 0.00012
NM_002834.5(PTPN11):c.*2493C>T rs886048977 0.00009
NM_002834.5(PTPN11):c.*2928A>T rs565075386 0.00009
NM_002834.5(PTPN11):c.*802G>A rs753900307 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002834.5(PTPN11):c.*3231T>G rs769489372 0.00006
NM_002834.5(PTPN11):c.*64C>G rs763895470 0.00006
NM_002834.5(PTPN11):c.*740C>T rs886048969 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.426C>T (p.Ser142=) rs199498784 0.00006
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002834.5(PTPN11):c.1143C>T (p.Gly381=) rs781677115 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002834.5(PTPN11):c.*3720T>C rs886048981 0.00003
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.1379+6A>G rs746958309 0.00003
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002834.3(PTPN11):c.-245C>G rs886048963 0.00002
NM_002834.5(PTPN11):c.*1588C>G rs886048974 0.00002
NM_002834.5(PTPN11):c.*1616C>T rs1340461859 0.00002
NM_002834.5(PTPN11):c.*1830G>A rs1399608679 0.00002
NM_002834.5(PTPN11):c.*2608C>T rs1009588224 0.00002
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile) rs749523268 0.00002
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1345A>G (p.Ile449Val) rs746112827 0.00002
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile) rs781083623 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val) rs767712281 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala) rs376027245 0.00002
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992 0.00002
NM_002834.5(PTPN11):c.*1038G>A rs931986581 0.00001
NM_002834.5(PTPN11):c.*1332G>A rs886048973 0.00001
NM_002834.5(PTPN11):c.*1419G>A rs1435419771 0.00001
NM_002834.5(PTPN11):c.*1520C>T rs953487891 0.00001
NM_002834.5(PTPN11):c.*2096T>G rs547373116 0.00001
NM_002834.5(PTPN11):c.*2179C>T rs1269783582 0.00001
NM_002834.5(PTPN11):c.*2540G>T rs886048978 0.00001
NM_002834.5(PTPN11):c.*2907A>C rs886048979 0.00001
NM_002834.5(PTPN11):c.*3300T>C rs886048980 0.00001
NM_002834.5(PTPN11):c.*474A>G rs1198836111 0.00001
NM_002834.5(PTPN11):c.*682T>C rs1223950825 0.00001
NM_002834.5(PTPN11):c.-71C>T rs1463949594 0.00001
NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg) rs886041585 0.00001
NM_002834.5(PTPN11):c.1290C>A (p.Ser430Arg) rs1178602062 0.00001
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met) rs397516796 0.00001
NM_002834.5(PTPN11):c.1380-14C>G rs193922657 0.00001
NM_002834.5(PTPN11):c.1380-5C>T rs765455455 0.00001
NM_002834.5(PTPN11):c.14+6G>A rs1244171867 0.00001
NM_002834.5(PTPN11):c.1547T>C (p.Met516Thr) rs994514579 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.1676C>G (p.Pro559Arg) rs1253971623 0.00001
NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser) rs746712068 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr) rs1415602777 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.34A>G (p.Thr12Ala) rs1386827892 0.00001
NM_002834.5(PTPN11):c.440T>G (p.Phe147Cys) rs1179862540 0.00001
NM_002834.5(PTPN11):c.518G>A (p.Arg173His) rs369155025 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.583G>A (p.Glu195Lys) rs1181200121 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.652A>T (p.Thr218Ser) rs768555552 0.00001
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059 0.00001
NM_002834.5(PTPN11):c.860A>C (p.His287Pro) rs2038527071 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu) rs968167995 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr) rs779400765 0.00001
NM_002834.5(PTPN11):c.983T>C (p.Ile328Thr) rs369430257 0.00001
NC_000012.11:g.(?_112856896)_(112942588_?)dup
NC_000012.11:g.(?_112856916)_(112942568_?)dup
NC_000012.11:g.(?_112884060)_(112884222_?)del
NC_000012.11:g.(?_112910728)_(113008334_?)del
NC_000012.11:g.(?_112919858)_(112920029_?)del
NC_000012.12:g.(?_112419092)_(112419145_?)dup
NM_002834.4(PTPN11):c.-176G>T rs919391557
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.5(PTPN11):c.*1015C>G rs538946251
NM_002834.5(PTPN11):c.*1035A>G rs886048970
NM_002834.5(PTPN11):c.*1157ATG[13] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[16] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[17] rs80269561
NM_002834.5(PTPN11):c.*1536T>G rs371375321
NM_002834.5(PTPN11):c.*1729A>G rs886048975
NM_002834.5(PTPN11):c.*1946G>A rs886048976
NM_002834.5(PTPN11):c.*2822A>G rs1164863703
NM_002834.5(PTPN11):c.*3244A>G rs763237386
NM_002834.5(PTPN11):c.*41_*46del rs886048967
NM_002834.5(PTPN11):c.*656del rs886048968
NM_002834.5(PTPN11):c.*673G>A rs2038937189
NM_002834.5(PTPN11):c.*684G>A rs1566194466
NM_002834.5(PTPN11):c.-139G>A rs886048964
NM_002834.5(PTPN11):c.-151C>A rs889190246
NM_002834.5(PTPN11):c.-161T>A rs893158717
NM_002834.5(PTPN11):c.1018G>T (p.Asp340Tyr) rs2135901995
NM_002834.5(PTPN11):c.1027C>T (p.Arg343Trp) rs1373621596
NM_002834.5(PTPN11):c.1032G>A (p.Met344Ile) rs2038533623
NM_002834.5(PTPN11):c.1039C>A (p.Gln347Lys) rs2038533750
NM_002834.5(PTPN11):c.103A>G (p.Lys35Glu) rs934388335
NM_002834.5(PTPN11):c.1043A>T (p.Glu348Val) rs1287780991
NM_002834.5(PTPN11):c.1049C>A (p.Ser350Tyr) rs2135902093
NM_002834.5(PTPN11):c.104A>T (p.Lys35Ile)
NM_002834.5(PTPN11):c.1057A>C (p.Ile353Leu) rs752392909
NM_002834.5(PTPN11):c.1078G>A (p.Val360Met)
NM_002834.5(PTPN11):c.1085G>A (p.Arg362Lys) rs2135902194
NM_002834.5(PTPN11):c.1091A>G (p.Lys364Arg) rs988676659
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg) rs1566183223
NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)
NM_002834.5(PTPN11):c.1117G>A (p.Asp373Asn)
NM_002834.5(PTPN11):c.1121A>G (p.Glu374Gly)
NM_002834.5(PTPN11):c.1126G>A (p.Ala376Thr)
NM_002834.5(PTPN11):c.1129C>G (p.Leu377Val) rs1322494804
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1148T>C (p.Met383Thr) rs1260386432
NM_002834.5(PTPN11):c.1150C>T (p.Arg384Cys)
NM_002834.5(PTPN11):c.1166A>G (p.Lys389Arg) rs2038606620
NM_002834.5(PTPN11):c.1171A>G (p.Ser391Gly) rs2135906878
NM_002834.5(PTPN11):c.1172G>A (p.Ser391Asn)
NM_002834.5(PTPN11):c.1177G>A (p.Ala393Thr)
NM_002834.5(PTPN11):c.1183G>T (p.Asp395Tyr)
NM_002834.5(PTPN11):c.1186T>C (p.Tyr396His)
NM_002834.5(PTPN11):c.1198G>A (p.Glu400Lys)
NM_002834.5(PTPN11):c.11G>A (p.Arg4Gln)
NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)
NM_002834.5(PTPN11):c.1216G>A (p.Val406Ile) rs1592850347
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.1223A>G (p.Gln408Arg) rs2038607572
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.1235A>G (p.Glu412Gly) rs2038677213
NM_002834.5(PTPN11):c.1241C>T (p.Thr414Met)
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.1294C>G (p.Pro432Ala)
NM_002834.5(PTPN11):c.1302C>T (p.Gly434=) rs777895575
NM_002834.5(PTPN11):c.1303G>T (p.Val435Leu)
NM_002834.5(PTPN11):c.1326G>A (p.Val442=)
NM_002834.5(PTPN11):c.1331A>G (p.His444Arg)
NM_002834.5(PTPN11):c.133G>A (p.Val45Ile) rs2037995352
NM_002834.5(PTPN11):c.1343G>A (p.Ser448Asn)
NM_002834.5(PTPN11):c.1348A>G (p.Met450Val) rs2038680566
NM_002834.5(PTPN11):c.1348A>T (p.Met450Leu)
NM_002834.5(PTPN11):c.1349T>C (p.Met450Thr) rs2135912854
NM_002834.5(PTPN11):c.1358G>A (p.Gly453Glu)
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.5(PTPN11):c.1379+6A>C
NM_002834.5(PTPN11):c.138-12G>A
NM_002834.5(PTPN11):c.1382C>T (p.Ala461Val) rs397509344
NM_002834.5(PTPN11):c.1385G>T (p.Gly462Val) rs2038706464
NM_002834.5(PTPN11):c.1387A>G (p.Ile463Val)
NM_002834.5(PTPN11):c.14+6G>T rs1244171867
NM_002834.5(PTPN11):c.14+8G>T rs886048965
NM_002834.5(PTPN11):c.1402_1403delinsGA (p.Thr468Glu) rs886039711
NM_002834.5(PTPN11):c.1408A>G (p.Ile470Val) rs779978269
NM_002834.5(PTPN11):c.1426A>G (p.Ile476Val) rs2038706987
NM_002834.5(PTPN11):c.1432A>G (p.Ile478Val)
NM_002834.5(PTPN11):c.1444A>C (p.Lys482Gln)
NM_002834.5(PTPN11):c.1447+6T>C
NM_002834.5(PTPN11):c.1450G>A (p.Val484Ile) rs2135916035
NM_002834.5(PTPN11):c.1453G>T (p.Asp485Tyr) rs397507538
NM_002834.5(PTPN11):c.1454A>G (p.Asp485Gly) rs2135916057
NM_002834.5(PTPN11):c.1464T>G (p.Ile488Met)
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.148G>A (p.Ala50Thr) rs587778636
NM_002834.5(PTPN11):c.1496C>G (p.Ser499Cys)
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg) rs1173984843
NM_002834.5(PTPN11):c.15-4del rs1223869705
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1594G>C (p.Glu532Gln)
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1599+5C>T
NM_002834.5(PTPN11):c.1599+6A>C
NM_002834.5(PTPN11):c.1604G>A (p.Ser535Asn)
NM_002834.5(PTPN11):c.1628C>T (p.Thr543Ile) rs1057520397
NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr)
NM_002834.5(PTPN11):c.164A>G (p.Lys55Arg) rs1261667540
NM_002834.5(PTPN11):c.1657A>T (p.Thr553Ser)
NM_002834.5(PTPN11):c.1662T>C (p.Ser554=) rs2135928801
NM_002834.5(PTPN11):c.1671G>C (p.Gln557His) rs753741561
NM_002834.5(PTPN11):c.1675C>T (p.Pro559Ser) rs1060502526
NM_002834.5(PTPN11):c.1676C>T (p.Pro559Leu)
NM_002834.5(PTPN11):c.1678C>G (p.Leu560Val) rs397516797
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.1690A>G (p.Thr564Ala)
NM_002834.5(PTPN11):c.1696A>G (p.Thr566Ala) rs746712068
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg) rs1420924484
NM_002834.5(PTPN11):c.1708G>T (p.Ala570Ser)
NM_002834.5(PTPN11):c.1712A>C (p.Glu571Ala)
NM_002834.5(PTPN11):c.1713-6_1730del rs2135930793
NM_002834.5(PTPN11):c.1716G>A (p.Met572Ile)
NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly) rs397516799
NM_002834.5(PTPN11):c.1727G>A (p.Ser576Asn)
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala) rs2135930864
NM_002834.5(PTPN11):c.1763A>G (p.Gln588Arg)
NM_002834.5(PTPN11):c.1766A>C (p.Gln589Pro)
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.184_185delinsAT (p.Tyr62Ile)
NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)
NM_002834.5(PTPN11):c.18G>T (p.Trp6Cys)
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.223G>C (p.Ala75Pro) rs1555267561
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.246G>C (p.Met82Ile) rs753788277
NM_002834.5(PTPN11):c.256G>A (p.Gly86Arg) rs925129380
NM_002834.5(PTPN11):c.276T>A (p.Asn92Lys) rs2135862739
NM_002834.5(PTPN11):c.279A>T (p.Gly93=)
NM_002834.5(PTPN11):c.281A>G (p.Asp94Gly) rs2135862786
NM_002834.5(PTPN11):c.283G>A (p.Val95Ile) rs2135862799
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp) rs368633510
NM_002834.5(PTPN11):c.290A>T (p.Glu97Val) rs2135862855
NM_002834.5(PTPN11):c.29A>C (p.Asn10Thr)
NM_002834.5(PTPN11):c.29A>G (p.Asn10Ser)
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)
NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.32T>C (p.Ile11Thr)
NM_002834.5(PTPN11):c.332+3C>T
NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp) rs755619262
NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)
NM_002834.5(PTPN11):c.395A>C (p.His132Pro)
NM_002834.5(PTPN11):c.418A>T (p.Ser140Cys) rs1060502527
NM_002834.5(PTPN11):c.466G>T (p.Asp156Tyr)
NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg) rs1315568280
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002834.5(PTPN11):c.473G>T (p.Gly158Val)
NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn) rs1044076600
NM_002834.5(PTPN11):c.487G>T (p.Gly163Cys)
NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)
NM_002834.5(PTPN11):c.501G>C (p.Val167=)
NM_002834.5(PTPN11):c.502A>G (p.Thr168Ala) rs2038105901
NM_002834.5(PTPN11):c.525+6T>A rs370878456
NM_002834.5(PTPN11):c.525+6T>C
NM_002834.5(PTPN11):c.538G>A (p.Asp180Asn)
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.5(PTPN11):c.554A>T (p.Glu185Val)
NM_002834.5(PTPN11):c.557G>C (p.Arg186Pro) rs764663951
NM_002834.5(PTPN11):c.55C>G (p.Leu19Val)
NM_002834.5(PTPN11):c.574G>A (p.Asp192Asn)
NM_002834.5(PTPN11):c.575A>C (p.Asp192Ala)
NM_002834.5(PTPN11):c.583G>C (p.Glu195Gln)
NM_002834.5(PTPN11):c.604A>T (p.Met202Leu)
NM_002834.5(PTPN11):c.611A>T (p.Glu204Val)
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_002834.5(PTPN11):c.628C>A (p.Leu210Ile)
NM_002834.5(PTPN11):c.641A>T (p.Gln214Leu)
NM_002834.5(PTPN11):c.643-5A>G
NM_002834.5(PTPN11):c.643-6G>A rs780387568
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
NM_002834.5(PTPN11):c.653C>T (p.Thr218Met)
NM_002834.5(PTPN11):c.658C>T (p.Arg220Cys) rs2135872268
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)
NM_002834.5(PTPN11):c.712G>A (p.Glu238Lys)
NM_002834.5(PTPN11):c.727_732del (p.Val243_Lys244del) rs2135872358
NM_002834.5(PTPN11):c.733C>G (p.Gln245Glu) rs2038155027
NM_002834.5(PTPN11):c.756+6T>C
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
NM_002834.5(PTPN11):c.776G>A (p.Cys259Tyr)
NM_002834.5(PTPN11):c.781_782delinsTA (p.Leu261Tyr)
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.853+3A>G
NM_002834.5(PTPN11):c.853+7A>G
NM_002834.5(PTPN11):c.853+8T>C rs886048966
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002834.5(PTPN11):c.854-14T>A rs2038526676
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002834.5(PTPN11):c.877C>T (p.His293Tyr)
NM_002834.5(PTPN11):c.879C>A (p.His293Gln) rs117730996
NM_002834.5(PTPN11):c.879C>G (p.His293Gln) rs117730996
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
NM_002834.5(PTPN11):c.880G>T (p.Asp294Tyr)
NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)
NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)
NM_002834.5(PTPN11):c.947C>T (p.Thr316Ile) rs547041954
NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp) rs2038531520
NM_002834.5(PTPN11):c.956A>G (p.Asn319Ser)
NM_002834.5(PTPN11):c.965A>G (p.Lys322Arg)
NM_002834.5(PTPN11):c.972A>C (p.Lys324Asn)
NM_002834.5(PTPN11):c.997T>A (p.Cys333Ser) rs730880993

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.