ClinVar Miner

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

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Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 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.824A>C (p.Asn275Thr) rs397507528 0.00003
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.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.14+6G>A rs1244171867 0.00001
NM_002834.5(PTPN11):c.1547T>C (p.Met516Thr) rs994514579 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.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.860A>C (p.His287Pro) rs2038527071 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 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)_(112856949_?)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.(?_112910728)_(113008334_?)dup
NC_000012.11:g.(?_112919858)_(112920029_?)del
NC_000012.12:g.(?_112419092)_(112419145_?)dup
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.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.1216G>A (p.Val406Ile) rs1592850347
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.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
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.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.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.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.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.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.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.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.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.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.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>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.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.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.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.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.853T>G (p.Phe285Val) rs397507531
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

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