ClinVar Miner

List of variants in gene SH3BP2 reported as uncertain significance for connective tissue disorder

Included ClinVar conditions (369):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 338
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_001122681.2(SH3BP2):c.*3229T>G rs886059374 0.00086
NM_001122681.2(SH3BP2):c.*4161C>T rs771475877 0.00081
NM_001122681.2(SH3BP2):c.*3175C>T rs886059372 0.00060
NM_001122681.2(SH3BP2):c.*6399_*6400insA rs1553809321 0.00054
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713 0.00025
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371 0.00024
NM_001122681.2(SH3BP2):c.*821A>G rs886059362 0.00016
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050 0.00016
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) rs199818232 0.00015
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936 0.00014
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155 0.00014
NM_001122681.2(SH3BP2):c.*1116C>T rs760035123 0.00012
NM_001122681.2(SH3BP2):c.724del (p.His242fs) rs747250901 0.00011
NM_001122681.2(SH3BP2):c.*3383C>T rs886059375 0.00010
NM_001122681.2(SH3BP2):c.1464G>T (p.Arg488=) rs144848283 0.00010
NM_001122681.2(SH3BP2):c.506C>T (p.Thr169Met) rs201786792 0.00010
NM_001122681.2(SH3BP2):c.628C>T (p.Pro210Ser) rs777085450 0.00010
NM_001122681.2(SH3BP2):c.817A>G (p.Thr273Ala) rs373481284 0.00010
NM_001122681.2(SH3BP2):c.950C>T (p.Thr317Ile) rs371366593 0.00010
NM_001122681.2(SH3BP2):c.1488+6C>T rs548212932 0.00009
NM_001122681.2(SH3BP2):c.587-3C>A rs368839407 0.00009
NM_001122681.2(SH3BP2):c.1350+6G>A rs766189842 0.00008
NM_001122681.2(SH3BP2):c.*3560C>T rs766523218 0.00007
NM_001122681.2(SH3BP2):c.240-16G>A rs752456141 0.00007
NM_001122681.2(SH3BP2):c.*4776T>C rs886059380 0.00006
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) rs529543434 0.00006
NM_001122681.2(SH3BP2):c.1192C>T (p.Arg398Trp) rs745563984 0.00006
NM_001122681.2(SH3BP2):c.1232C>T (p.Pro411Leu) rs376008602 0.00006
NM_001122681.2(SH3BP2):c.15G>C (p.Glu5Asp) rs370829171 0.00006
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486 0.00006
NM_001122681.2(SH3BP2):c.376C>T (p.Arg126Cys) rs776243893 0.00006
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) rs150461713 0.00006
NM_001122681.2(SH3BP2):c.*2464T>C rs886059366 0.00005
NM_001122681.2(SH3BP2):c.1190C>T (p.Ala397Val) rs527342066 0.00005
NM_001122681.2(SH3BP2):c.1507G>A (p.Glu503Lys) rs767658389 0.00005
NM_001122681.2(SH3BP2):c.32C>T (p.Pro11Leu) rs751798471 0.00005
NM_001122681.2(SH3BP2):c.512A>G (p.Asn171Ser) rs143236581 0.00005
NM_001122681.2(SH3BP2):c.*6660A>G rs886059390 0.00004
NM_001122681.2(SH3BP2):c.1295G>A (p.Arg432Gln) rs200226629 0.00004
NM_001122681.2(SH3BP2):c.1331C>T (p.Ser444Leu) rs137947663 0.00004
NM_001122681.2(SH3BP2):c.1351-13C>T rs367963191 0.00004
NM_001122681.2(SH3BP2):c.1573G>A (p.Glu525Lys) rs142735744 0.00004
NM_001122681.2(SH3BP2):c.1666G>A (p.Gly556Ser) rs201197278 0.00004
NM_001122681.2(SH3BP2):c.947C>T (p.Ser316Phe) rs1235042756 0.00004
NM_001122681.2(SH3BP2):c.*1947C>T rs770509235 0.00003
NM_001122681.2(SH3BP2):c.*5583G>A rs886059383 0.00003
NM_001122681.2(SH3BP2):c.*6037T>C rs886059385 0.00003
NM_001122681.2(SH3BP2):c.1135C>T (p.Pro379Ser) rs759054470 0.00003
NM_001122681.2(SH3BP2):c.1321G>A (p.Gly441Arg) rs146202519 0.00003
NM_001122681.2(SH3BP2):c.1535G>A (p.Arg512His) rs373119331 0.00003
NM_001122681.2(SH3BP2):c.167G>A (p.Arg56His) rs779608979 0.00003
NM_001122681.2(SH3BP2):c.410A>G (p.Asp137Gly) rs777468144 0.00003
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu) rs567769591 0.00003
NM_001122681.2(SH3BP2):c.517+5G>A rs367984149 0.00003
NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu) rs369270340 0.00003
NM_001122681.2(SH3BP2):c.907C>G (p.Pro303Ala) rs146469368 0.00003
NM_001122681.2(SH3BP2):c.914C>T (p.Pro305Leu) rs555463039 0.00003
NM_001122681.2(SH3BP2):c.967A>G (p.Met323Val) rs1482037731 0.00003
NM_001122681.2(SH3BP2):c.*128T>C rs886059359 0.00002
NM_001122681.2(SH3BP2):c.*1489G>A rs886059364 0.00002
NM_001122681.2(SH3BP2):c.*3387G>A rs886059376 0.00002
NM_001122681.2(SH3BP2):c.*6061G>C rs886059386 0.00002
NM_001122681.2(SH3BP2):c.1117A>G (p.Met373Val) rs1242360913 0.00002
NM_001122681.2(SH3BP2):c.1133T>C (p.Val378Ala) rs774058201 0.00002
NM_001122681.2(SH3BP2):c.1187T>C (p.Met396Thr) rs749171361 0.00002
NM_001122681.2(SH3BP2):c.1327G>A (p.Asp443Asn) rs907019445 0.00002
NM_001122681.2(SH3BP2):c.1448G>C (p.Gly483Ala) rs748160727 0.00002
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386 0.00002
NM_001122681.2(SH3BP2):c.1534C>T (p.Arg512Cys) rs369562627 0.00002
NM_001122681.2(SH3BP2):c.353G>A (p.Arg118His) rs772096716 0.00002
NM_001122681.2(SH3BP2):c.560A>G (p.Asp187Gly) rs753681184 0.00002
NM_001122681.2(SH3BP2):c.574G>A (p.Gly192Arg) rs765339575 0.00002
NM_001122681.2(SH3BP2):c.632C>T (p.Thr211Met) rs375942374 0.00002
NM_001122681.2(SH3BP2):c.688G>T (p.Gly230Cys) rs769244623 0.00002
NM_001122681.2(SH3BP2):c.757G>A (p.Asp253Asn) rs763881667 0.00002
NM_001122681.2(SH3BP2):c.788G>A (p.Arg263Gln) rs748657780 0.00002
NM_001122681.2(SH3BP2):c.874C>T (p.Arg292Trp) rs746025620 0.00002
NM_001122681.2(SH3BP2):c.*3106A>T rs886059369 0.00001
NM_001122681.2(SH3BP2):c.*3111C>G rs886059370 0.00001
NM_001122681.2(SH3BP2):c.*3667G>A rs886059377 0.00001
NM_001122681.2(SH3BP2):c.*88T>C rs886059358 0.00001
NM_001122681.2(SH3BP2):c.-4-1590C>T rs372664062 0.00001
NM_001122681.2(SH3BP2):c.1007C>T (p.Ser336Phe) rs773105147 0.00001
NM_001122681.2(SH3BP2):c.1052C>G (p.Pro351Arg) rs1724890588 0.00001
NM_001122681.2(SH3BP2):c.1097A>G (p.Asp366Gly) rs1453717053 0.00001
NM_001122681.2(SH3BP2):c.1103C>A (p.Pro368Gln) rs781072584 0.00001
NM_001122681.2(SH3BP2):c.1160C>T (p.Ala387Val) rs372762732 0.00001
NM_001122681.2(SH3BP2):c.1234C>T (p.His412Tyr) rs764213233 0.00001
NM_001122681.2(SH3BP2):c.127C>G (p.Leu43Val) rs368574144 0.00001
NM_001122681.2(SH3BP2):c.1292C>T (p.Pro431Leu) rs754582989 0.00001
NM_001122681.2(SH3BP2):c.1345_1347del (p.Glu449del) rs1724993599 0.00001
NM_001122681.2(SH3BP2):c.1382C>T (p.Thr461Ile) rs773282036 0.00001
NM_001122681.2(SH3BP2):c.1396G>A (p.Glu466Lys) rs946632787 0.00001
NM_001122681.2(SH3BP2):c.1426C>T (p.Pro476Ser) rs776527305 0.00001
NM_001122681.2(SH3BP2):c.1430G>A (p.Arg477Gln) rs762558421 0.00001
NM_001122681.2(SH3BP2):c.1457G>A (p.Cys486Tyr) rs1725036218 0.00001
NM_001122681.2(SH3BP2):c.1488G>A (p.Lys496=) rs748012203 0.00001
NM_001122681.2(SH3BP2):c.1496T>G (p.Val499Gly) rs751799854 0.00001
NM_001122681.2(SH3BP2):c.1574A>G (p.Glu525Gly) rs1172008192 0.00001
NM_001122681.2(SH3BP2):c.160C>A (p.His54Asn) rs765023340 0.00001
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) rs758096402 0.00001
NM_001122681.2(SH3BP2):c.1675G>T (p.Gly559Trp) rs776809624 0.00001
NM_001122681.2(SH3BP2):c.206C>T (p.Pro69Leu) rs775642148 0.00001
NM_001122681.2(SH3BP2):c.221C>T (p.Ser74Phe) rs532591178 0.00001
NM_001122681.2(SH3BP2):c.238C>T (p.Arg80Trp) rs372066896 0.00001
NM_001122681.2(SH3BP2):c.256G>T (p.Glu86Ter) rs890566926 0.00001
NM_001122681.2(SH3BP2):c.316C>T (p.Arg106Cys) rs760277294 0.00001
NM_001122681.2(SH3BP2):c.393C>G (p.His131Gln) rs781060795 0.00001
NM_001122681.2(SH3BP2):c.400G>A (p.Glu134Lys) rs769545519 0.00001
NM_001122681.2(SH3BP2):c.428+1G>C rs769264475 0.00001
NM_001122681.2(SH3BP2):c.429C>G (p.Ser143Arg) rs140532510 0.00001
NM_001122681.2(SH3BP2):c.44T>C (p.Ile15Thr) rs777574434 0.00001
NM_001122681.2(SH3BP2):c.463G>A (p.Ala155Thr) rs766158687 0.00001
NM_001122681.2(SH3BP2):c.527A>G (p.His176Arg) rs779050688 0.00001
NM_001122681.2(SH3BP2):c.586+5G>T rs758216830 0.00001
NM_001122681.2(SH3BP2):c.605C>T (p.Pro202Leu) rs921887620 0.00001
NM_001122681.2(SH3BP2):c.625G>A (p.Val209Met) rs1281385097 0.00001
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069 0.00001
NM_001122681.2(SH3BP2):c.664C>T (p.Arg222Trp) rs201459890 0.00001
NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro) rs1211847666 0.00001
NM_001122681.2(SH3BP2):c.771C>G (p.Asp257Glu) rs753445987 0.00001
NM_001122681.2(SH3BP2):c.796C>T (p.Pro266Ser) rs1418589091 0.00001
NM_001122681.2(SH3BP2):c.803C>G (p.Pro268Arg) rs148592718 0.00001
NM_001122681.2(SH3BP2):c.823C>T (p.Arg275Ter) rs1282774369 0.00001
NM_001122681.2(SH3BP2):c.862G>A (p.Ala288Thr) rs756606586 0.00001
NM_001122681.2(SH3BP2):c.886T>C (p.Cys296Arg) rs1724878185 0.00001
NM_001122681.2(SH3BP2):c.892C>T (p.Arg298Trp) rs776406405 0.00001
NM_001122681.2(SH3BP2):c.893G>A (p.Arg298Gln) rs1042293143 0.00001
NM_001122681.2(SH3BP2):c.930del (p.Gly311fs) rs762935038 0.00001
NM_001122681.2(SH3BP2):c.932G>A (p.Gly311Asp) rs147908313 0.00001
NM_001122681.2(SH3BP2):c.944G>C (p.Cys315Ser) rs1312017070 0.00001
NC_000004.11:g.(?_2822345)_(2822500_?)del
NC_000004.11:g.(?_2822345)_(2822500_?)dup
NC_000004.12:g.(?_2812378)_(2820773_?)dup
NM_001122681.2(SH3BP2):c.*1401C>T rs886059363
NM_001122681.2(SH3BP2):c.*2353CT[1] rs886059365
NM_001122681.2(SH3BP2):c.*2574G>A rs886059367
NM_001122681.2(SH3BP2):c.*2665C>G rs886059368
NM_001122681.2(SH3BP2):c.*3132TCT[1] rs753767983
NM_001122681.2(SH3BP2):c.*3220T>C rs886059373
NM_001122681.2(SH3BP2):c.*3911C>T rs886059378
NM_001122681.2(SH3BP2):c.*415G>A rs886059360
NM_001122681.2(SH3BP2):c.*4817_*4818dup rs397878760
NM_001122681.2(SH3BP2):c.*5322TCTTTT[2] rs886059381
NM_001122681.2(SH3BP2):c.*5496A>T rs886059382
NM_001122681.2(SH3BP2):c.*5613C>T rs886059384
NM_001122681.2(SH3BP2):c.*5738dup rs1553809216
NM_001122681.2(SH3BP2):c.*618G>A rs886059361
NM_001122681.2(SH3BP2):c.*6419_*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6580del rs886059389
NM_001122681.2(SH3BP2):c.*6928T>C rs886059391
NM_001122681.2(SH3BP2):c.*7167del rs566926916
NM_001122681.2(SH3BP2):c.*7167dup rs566926916
NM_001122681.2(SH3BP2):c.1005G>T (p.Lys335Asn)
NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter)
NM_001122681.2(SH3BP2):c.1033C>G (p.Pro345Ala) rs1317170986
NM_001122681.2(SH3BP2):c.1039T>C (p.Ser347Pro) rs1274772239
NM_001122681.2(SH3BP2):c.1045C>T (p.Pro349Ser)
NM_001122681.2(SH3BP2):c.1049C>G (p.Pro350Arg) rs762177276
NM_001122681.2(SH3BP2):c.1061C>A (p.Ala354Asp)
NM_001122681.2(SH3BP2):c.1061C>T (p.Ala354Val) rs1016515984
NM_001122681.2(SH3BP2):c.1084A>G (p.Ile362Val)
NM_001122681.2(SH3BP2):c.1102C>T (p.Pro368Ser)
NM_001122681.2(SH3BP2):c.1103C>T (p.Pro368Leu) rs781072584
NM_001122681.2(SH3BP2):c.1103del (p.Pro368fs) rs1560111269
NM_001122681.2(SH3BP2):c.1108_1109delinsAG (p.Glu370Arg)
NM_001122681.2(SH3BP2):c.1118T>C (p.Met373Thr)
NM_001122681.2(SH3BP2):c.1120C>T (p.Pro374Ser) rs2108739211
NM_001122681.2(SH3BP2):c.112G>A (p.Gly38Ser) rs773829474
NM_001122681.2(SH3BP2):c.112G>C (p.Gly38Arg)
NM_001122681.2(SH3BP2):c.1130T>C (p.Phe377Ser) rs1724895905
NM_001122681.2(SH3BP2):c.1132G>T (p.Val378Leu) rs1724896293
NM_001122681.2(SH3BP2):c.1140dup (p.Val381fs) rs759199606
NM_001122681.2(SH3BP2):c.1145C>G (p.Ala382Gly)
NM_001122681.2(SH3BP2):c.1153CCT[1] (p.Pro386del) rs1303791404
NM_001122681.2(SH3BP2):c.1154C>T (p.Pro385Leu)
NM_001122681.2(SH3BP2):c.1157C>T (p.Pro386Leu)
NM_001122681.2(SH3BP2):c.1169T>C (p.Leu390Pro)
NM_001122681.2(SH3BP2):c.1172C>T (p.Pro391Leu)
NM_001122681.2(SH3BP2):c.1175T>C (p.Val392Ala) rs2108739303
NM_001122681.2(SH3BP2):c.1177C>T (p.Pro393Ser)
NM_001122681.2(SH3BP2):c.1178C>T (p.Pro393Leu) rs1724900397
NM_001122681.2(SH3BP2):c.1184C>T (p.Ala395Val) rs777927746
NM_001122681.2(SH3BP2):c.1186A>G (p.Met396Val)
NM_001122681.2(SH3BP2):c.1190C>G (p.Ala397Gly) rs527342066
NM_001122681.2(SH3BP2):c.1205T>G (p.Leu402Arg) rs1724903131
NM_001122681.2(SH3BP2):c.1208C>T (p.Pro403Leu)
NM_001122681.2(SH3BP2):c.1216G>C (p.Glu406Gln)
NM_001122681.2(SH3BP2):c.1223C>T (p.Pro408Leu)
NM_001122681.2(SH3BP2):c.1244G>T (p.Arg415Leu) rs121909149
NM_001122681.2(SH3BP2):c.1252C>G (p.Pro418Ala)
NM_001122681.2(SH3BP2):c.1254dup (p.Asp419fs) rs752422406
NM_001122681.2(SH3BP2):c.1258G>T (p.Gly420Trp)
NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu) rs28938171
NM_001122681.2(SH3BP2):c.125A>C (p.Gln42Pro)
NM_001122681.2(SH3BP2):c.1261C>T (p.Gln421Ter)
NM_001122681.2(SH3BP2):c.1264_1265del (p.Ser422fs) rs1724988286
NM_001122681.2(SH3BP2):c.1275C>A (p.Ser425Arg) rs972728940
NM_001122681.2(SH3BP2):c.1291C>A (p.Pro431Thr) rs1486769271
NM_001122681.2(SH3BP2):c.1299A>C (p.Gln433His)
NM_001122681.2(SH3BP2):c.1299A>G (p.Gln433=) rs886059357
NM_001122681.2(SH3BP2):c.1300C>T (p.Pro434Ser)
NM_001122681.2(SH3BP2):c.1310C>T (p.Ala437Val)
NM_001122681.2(SH3BP2):c.1326C>A (p.Asp442Glu) rs761864704
NM_001122681.2(SH3BP2):c.1330T>A (p.Ser444Thr) rs1724992271
NM_001122681.2(SH3BP2):c.1342T>C (p.Tyr448His)
NM_001122681.2(SH3BP2):c.1343A>C (p.Tyr448Ser) rs1291034009
NM_001122681.2(SH3BP2):c.1343A>T (p.Tyr448Phe)
NM_001122681.2(SH3BP2):c.136+5G>A
NM_001122681.2(SH3BP2):c.1380C>A (p.Asn460Lys) rs1322292807
NM_001122681.2(SH3BP2):c.13G>A (p.Glu5Lys)
NM_001122681.2(SH3BP2):c.1406+2T>A rs2108741609
NM_001122681.2(SH3BP2):c.1406+6C>T
NM_001122681.2(SH3BP2):c.1418C>G (p.Ala473Gly) rs2108742009
NM_001122681.2(SH3BP2):c.1421C>T (p.Thr474Ile) rs746860671
NM_001122681.2(SH3BP2):c.1425C>G (p.Ser475Arg)
NM_001122681.2(SH3BP2):c.1436A>G (p.Glu479Gly)
NM_001122681.2(SH3BP2):c.1437G>C (p.Glu479Asp) rs2108742039
NM_001122681.2(SH3BP2):c.1438C>G (p.Pro480Ala)
NM_001122681.2(SH3BP2):c.1439C>G (p.Pro480Arg) rs565191421
NM_001122681.2(SH3BP2):c.143T>C (p.Leu48Pro)
NM_001122681.2(SH3BP2):c.1445A>G (p.Asp482Gly)
NM_001122681.2(SH3BP2):c.1450C>G (p.Leu484Val) rs2108742062
NM_001122681.2(SH3BP2):c.1458C>A (p.Cys486Ter)
NM_001122681.2(SH3BP2):c.1503G>C (p.Trp501Cys)
NM_001122681.2(SH3BP2):c.1514C>T (p.Ser505Phe) rs144577122
NM_001122681.2(SH3BP2):c.1520A>G (p.Lys507Arg)
NM_001122681.2(SH3BP2):c.1521A>T (p.Lys507Asn) rs2108742930
NM_001122681.2(SH3BP2):c.1522G>A (p.Val508Met)
NM_001122681.2(SH3BP2):c.1523T>G (p.Val508Gly) rs2108742933
NM_001122681.2(SH3BP2):c.1524G>A (p.Val508=)
NM_001122681.2(SH3BP2):c.1554dup (p.Lys519Ter)
NM_001122681.2(SH3BP2):c.1585G>T (p.Val529Leu)
NM_001122681.2(SH3BP2):c.1589G>T (p.Ser530Ile)
NM_001122681.2(SH3BP2):c.1623C>G (p.His541Gln)
NM_001122681.2(SH3BP2):c.1641G>C (p.Gln547His) rs1030615203
NM_001122681.2(SH3BP2):c.1649T>G (p.Leu550Arg)
NM_001122681.2(SH3BP2):c.1654C>G (p.Arg552Gly) rs151048521
NM_001122681.2(SH3BP2):c.1654C>T (p.Arg552Trp) rs151048521
NM_001122681.2(SH3BP2):c.1661C>G (p.Pro554Arg) rs1725134312
NM_001122681.2(SH3BP2):c.1679C>T (p.Pro560Leu)
NM_001122681.2(SH3BP2):c.167G>T (p.Arg56Leu)
NM_001122681.2(SH3BP2):c.1682G>C (p.Arg561Thr)
NM_001122681.2(SH3BP2):c.172G>A (p.Val58Ile)
NM_001122681.2(SH3BP2):c.17del (p.Met6fs) rs746804160
NM_001122681.2(SH3BP2):c.194C>T (p.Thr65Ile)
NM_001122681.2(SH3BP2):c.199G>A (p.Ala67Thr) rs2108728412
NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val)
NM_001122681.2(SH3BP2):c.205C>T (p.Pro69Ser)
NM_001122681.2(SH3BP2):c.228T>G (p.Ser76Arg)
NM_001122681.2(SH3BP2):c.230G>C (p.Gly77Ala)
NM_001122681.2(SH3BP2):c.240-1G>A rs1560106586
NM_001122681.2(SH3BP2):c.244A>T (p.Met82Leu)
NM_001122681.2(SH3BP2):c.248G>A (p.Arg83Gln)
NM_001122681.2(SH3BP2):c.24G>C (p.Trp8Cys)
NM_001122681.2(SH3BP2):c.279T>C (p.Val93=)
NM_001122681.2(SH3BP2):c.282C>G (p.Phe94Leu) rs1278859289
NM_001122681.2(SH3BP2):c.296T>A (p.Ile99Asn)
NM_001122681.2(SH3BP2):c.298C>T (p.His100Tyr)
NM_001122681.2(SH3BP2):c.305G>C (p.Ser102Thr) rs1484027719
NM_001122681.2(SH3BP2):c.320C>T (p.Thr107Met)
NM_001122681.2(SH3BP2):c.332C>T (p.Ser111Leu)
NM_001122681.2(SH3BP2):c.335C>T (p.Ala112Val)
NM_001122681.2(SH3BP2):c.341C>G (p.Ser114Cys) rs1724499985
NM_001122681.2(SH3BP2):c.341C>T (p.Ser114Phe)
NM_001122681.2(SH3BP2):c.343G>A (p.Glu115Lys) rs749467680
NM_001122681.2(SH3BP2):c.343_345delinsTCC (p.Glu115Ser)
NM_001122681.2(SH3BP2):c.357+14_357+15insTAGGACGAGTGCAAGGTGACTGGGGGTCC rs1326878343
NM_001122681.2(SH3BP2):c.357+6_357+7del
NM_001122681.2(SH3BP2):c.359G>A (p.Ser120Asn)
NM_001122681.2(SH3BP2):c.361T>A (p.Trp121Arg)
NM_001122681.2(SH3BP2):c.374T>A (p.Leu125Gln)
NM_001122681.2(SH3BP2):c.397C>A (p.His133Asn) rs1577360228
NM_001122681.2(SH3BP2):c.398A>C (p.His133Pro) rs886059355
NM_001122681.2(SH3BP2):c.411C>G (p.Asp137Glu)
NM_001122681.2(SH3BP2):c.416C>T (p.Pro139Leu)
NM_001122681.2(SH3BP2):c.432C>G (p.Asp144Glu)
NM_001122681.2(SH3BP2):c.457T>A (p.Tyr153Asn) rs1724717798
NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala)
NM_001122681.2(SH3BP2):c.476del (p.Pro159fs) rs2108735375
NM_001122681.2(SH3BP2):c.478G>C (p.Val160Leu) rs773270775
NM_001122681.2(SH3BP2):c.496C>T (p.Pro166Ser)
NM_001122681.2(SH3BP2):c.503C>G (p.Pro168Arg)
NM_001122681.2(SH3BP2):c.509del (p.Asp170fs) rs2108735431
NM_001122681.2(SH3BP2):c.566C>G (p.Pro189Arg) rs147001821
NM_001122681.2(SH3BP2):c.566C>T (p.Pro189Leu) rs147001821
NM_001122681.2(SH3BP2):c.568G>A (p.Glu190Lys) rs761070963
NM_001122681.2(SH3BP2):c.569A>C (p.Glu190Ala)
NM_001122681.2(SH3BP2):c.586G>T (p.Asp196Tyr)
NM_001122681.2(SH3BP2):c.587A>G (p.Asp196Gly) rs2108738351
NM_001122681.2(SH3BP2):c.619C>T (p.Pro207Ser)
NM_001122681.2(SH3BP2):c.620C>T (p.Pro207Leu) rs2108738398
NM_001122681.2(SH3BP2):c.643C>T (p.Pro215Ser)
NM_001122681.2(SH3BP2):c.655G>C (p.Asp219His)
NM_001122681.2(SH3BP2):c.661_710delinsAGAAGGGTG (p.Pro221fs)
NM_001122681.2(SH3BP2):c.665G>A (p.Arg222Gln)
NM_001122681.2(SH3BP2):c.67A>T (p.Met23Leu)
NM_001122681.2(SH3BP2):c.692C>T (p.Pro231Leu) rs1724859262
NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser)
NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del)
NM_001122681.2(SH3BP2):c.707C>A (p.Pro236Gln)
NM_001122681.2(SH3BP2):c.707C>T (p.Pro236Leu) rs2108738526
NM_001122681.2(SH3BP2):c.716C>G (p.Pro239Arg)
NM_001122681.2(SH3BP2):c.71C>G (p.Pro24Arg) rs1724253944
NM_001122681.2(SH3BP2):c.749C>T (p.Ala250Val)
NM_001122681.2(SH3BP2):c.749_750delinsTG (p.Ala250Val)
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.754G>A (p.Glu252Lys) rs1308552287
NM_001122681.2(SH3BP2):c.761C>G (p.Ser254Cys)
NM_001122681.2(SH3BP2):c.787C>T (p.Arg263Trp) rs539765774
NM_001122681.2(SH3BP2):c.806G>C (p.Arg269Thr)
NM_001122681.2(SH3BP2):c.808G>A (p.Val270Ile)
NM_001122681.2(SH3BP2):c.814G>A (p.Ala272Thr)
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=) rs745515987
NM_001122681.2(SH3BP2):c.821C>A (p.Pro274His)
NM_001122681.2(SH3BP2):c.821C>G (p.Pro274Arg) rs760547264
NM_001122681.2(SH3BP2):c.824G>A (p.Arg275Gln)
NM_001122681.2(SH3BP2):c.835G>A (p.Asp279Asn)
NM_001122681.2(SH3BP2):c.836A>G (p.Asp279Gly)
NM_001122681.2(SH3BP2):c.837T>A (p.Asp279Glu)
NM_001122681.2(SH3BP2):c.845T>A (p.Leu282Gln) rs766045804
NM_001122681.2(SH3BP2):c.868G>A (p.Gly290Ser) rs757550176
NM_001122681.2(SH3BP2):c.874C>G (p.Arg292Gly)
NM_001122681.2(SH3BP2):c.879A>C (p.Lys293Asn)
NM_001122681.2(SH3BP2):c.884C>T (p.Pro295Leu)
NM_001122681.2(SH3BP2):c.8C>T (p.Ala3Val)
NM_001122681.2(SH3BP2):c.908C>T (p.Pro303Leu)
NM_001122681.2(SH3BP2):c.946T>A (p.Ser316Thr)
NM_001122681.2(SH3BP2):c.959C>G (p.Ala320Gly) rs1724884429
NM_001122681.2(SH3BP2):c.968_973del (p.Met323_Ala324del)
NM_001122681.2(SH3BP2):c.977C>T (p.Ala326Val) rs2108739016
NM_001122681.2(SH3BP2):c.980C>T (p.Thr327Ile)
NM_001122681.2(SH3BP2):c.983C>G (p.Ser328Cys)
NM_001122681.2(SH3BP2):c.986G>A (p.Arg329Lys)
NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer) rs1171967366

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.