ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic for Primary pulmonary hypertension

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Gene type:
ClinVar version:
Total variants: 374
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HGVS dbSNP
BMPR2, 2-BP DEL, 1-BP INS, NT690
BMPR2, 5-BP DEL, NT1099
BMPR2, EX1-13DEL
BMPR2, EX10DEL
NC_000002.11:g.(?_203332222)_(203379722_?)del
NC_000002.11:g.(?_203378422)_(203395697_?)del
NC_000002.11:g.(?_203378422)_(203407190_?)del
NC_000002.11:g.(?_203378432)_(203384934_?)del
NM_001204.6(BMPR2):c.(1413+1_1414-1)_(*1_?)del
NM_001204.6(BMPR2):c.(418+1_419-1)_(*1_?)del
NM_001204.6(BMPR2):c.(76+1_77-1)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-1)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-1)_(1128+1_1129-1)del
NM_001204.6(BMPR2):c.(?_-1)_(418+1_419-1)del
NM_001204.6(BMPR2):c.(?_-1)_(529+1_530-1)del
NM_001204.6(BMPR2):c.(?_-1)_(76+1_77-1)del
NM_001204.6(BMPR2):c.(?_-540)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-540)_(76+1_77-1)del
NM_001204.6(BMPR2):c.1277-289_1413+4737del
NM_001204.6(BMPR2):c.1277-?_1413+?del
NM_001204.6(BMPR2):c.1277-?_1413+?dup
NM_001204.6(BMPR2):c.1279delG (p.E427Nfs*47) rs1085307333
NM_001204.6(BMPR2):c.1414-?_2866+?del
NM_001204.6(BMPR2):c.248-?_418+?del
NM_001204.6(BMPR2):c.248-?_418+?dup
NM_001204.6(BMPR2):c.419-?_1128+?dup
NM_001204.6(BMPR2):c.419-?_1413+?del
NM_001204.6(BMPR2):c.419-?_529+?del
NM_001204.6(BMPR2):c.419-?_621+?del
NM_001204.6(BMPR2):c.419-?_967+?del
NM_001204.6(BMPR2):c.51_814del (p.I18Hfs*25)
NM_001204.6(BMPR2):c.530-?_621+?del
NM_001204.6(BMPR2):c.530-?_967+?del
NM_001204.6(BMPR2):c.622-?_852+?del
NM_001204.6(BMPR2):c.622-?_967+?del
NM_001204.6(BMPR2):c.77-?_1276+?del
NM_001204.6(BMPR2):c.77-?_247+?del (p.A26_Q82del)
NM_001204.6(BMPR2):c.77-?_247+?dup
NM_001204.6(BMPR2):c.77-?_418+?del
NM_001204.6(BMPR2):c.77-?_418+?dup
NM_001204.6(BMPR2):c.77-?_621+?del
NM_001204.6(BMPR2):c.77-?_967+?dup
NM_001204.6(BMPR2):c.853-?_967+?dup
NM_001204.6(BMPR2):c.968-?_1128+?del
NM_001204.6(BMPR2):c.968-?_1276+?del
NM_001204.6(BMPR2):c.968-?_1413+?dup
NM_001204.7(BMPR2):c.-669G>A rs115604088
NM_001204.7(BMPR2):c.-947_-946delinsAT rs1085307144
NM_001204.7(BMPR2):c.1001T>G (p.Leu334Ter) rs1085307286
NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg) rs1085307163
NM_001204.7(BMPR2):c.1011_1015del (p.Arg337fs) rs1085307287
NM_001204.7(BMPR2):c.1016T>A (p.Val339Asp) rs1085307288
NM_001204.7(BMPR2):c.1019T>C (p.Leu340Pro) rs1085307289
NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg) rs1085307290
NM_001204.7(BMPR2):c.103del (p.Ala35fs) rs1085307164
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.7(BMPR2):c.1044del (p.Ile349fs) rs1085307291
NM_001204.7(BMPR2):c.1060del (p.Leu354fs) rs1085307292
NM_001204.7(BMPR2):c.1076del (p.Thr359fs) rs1085307294
NM_001204.7(BMPR2):c.1093_1098delinsG (p.Arg365fs) rs1085307295
NM_001204.7(BMPR2):c.1097del (p.Pro366fs) rs1085307296
NM_001204.7(BMPR2):c.1101_1105del (p.Glu368fs) rs1085307297
NM_001204.7(BMPR2):c.1113dup (p.Ala372fs) rs1085307298
NM_001204.7(BMPR2):c.1125_1128+16del rs878854272
NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter) rs1085307301
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>C rs863223420
NM_001204.7(BMPR2):c.1128+1G>T rs863223420
NM_001204.7(BMPR2):c.1129-1_1129dup rs1085307302
NM_001204.7(BMPR2):c.1129-3C>G rs748230358
NM_001204.7(BMPR2):c.1141dup (p.Arg381fs) rs1085307303
NM_001204.7(BMPR2):c.1142_1143dup (p.Tyr382fs) rs1553509983
NM_001204.7(BMPR2):c.1146T>G (p.Tyr382Ter) rs1085307304
NM_001204.7(BMPR2):c.1148del (p.Met383fs) rs1553509984
NM_001204.7(BMPR2):c.1151C>T (p.Ala384Val) rs1085307305
NM_001204.7(BMPR2):c.1156G>A (p.Glu386Lys) rs1085307306
NM_001204.7(BMPR2):c.1156G>C (p.Glu386Gln) rs1085307306
NM_001204.7(BMPR2):c.1157A>C (p.Glu386Ala) rs1085307307
NM_001204.7(BMPR2):c.1157A>G (p.Glu386Gly) rs1085307307
NM_001204.7(BMPR2):c.1157A>T (p.Glu386Val) rs1085307307
NM_001204.7(BMPR2):c.116del (p.Pro39fs) rs1085307165
NM_001204.7(BMPR2):c.1171G>A (p.Ala391Thr) rs1085307308
NM_001204.7(BMPR2):c.1175T>C (p.Val392Ala) rs1085307309
NM_001204.7(BMPR2):c.1189_1190TG[1] (p.Cys397_Glu398delinsTer) rs1085307310
NM_001204.7(BMPR2):c.1196C>G (p.Ser399Ter) rs1085307311
NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser) rs1085307312
NM_001204.7(BMPR2):c.1207C>T (p.Gln403Ter) rs946132834
NM_001204.7(BMPR2):c.1214del (p.Asp405fs) rs1085307313
NM_001204.7(BMPR2):c.1220A>C (p.Tyr407Ser) rs1085307314
NM_001204.7(BMPR2):c.1221T>G (p.Tyr407Ter) rs1085307315
NM_001204.7(BMPR2):c.1228G>A (p.Gly410Arg) rs1085307316
NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter) rs1085307317
NM_001204.7(BMPR2):c.1243G>T (p.Glu415Ter) rs1085307318
NM_001204.7(BMPR2):c.1243_1244GA[3] (p.Ile416fs) rs1553509997
NM_001204.7(BMPR2):c.1246_1247insG (p.Ile416fs) rs1085307319
NM_001204.7(BMPR2):c.1247_1250delinsGA (p.Ile416fs) rs1085307320
NM_001204.7(BMPR2):c.1248del (p.Phe417fs) rs1085307321
NM_001204.7(BMPR2):c.124C>T (p.Gln42Ter) rs1085307166
NM_001204.7(BMPR2):c.1250_1253del (p.Ile416_Phe417insTer) rs1085307322
NM_001204.7(BMPR2):c.1257A>T (p.Arg419Ser) rs1085307323
NM_001204.7(BMPR2):c.1258T>C (p.Cys420Arg) rs1085307324
NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr) rs1085307325
NM_001204.7(BMPR2):c.1268dup (p.Phe424fs) rs1085307326
NM_001204.7(BMPR2):c.1271_1276delinsCGGAGA (p.Phe424_Gly426delinsSerGluArg) rs1085307327
NM_001204.7(BMPR2):c.1274dup (p.Gly426fs) rs1085307328
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
NM_001204.7(BMPR2):c.1276+3A>G rs1085307329
NM_001204.7(BMPR2):c.1276+3A>T rs1085307329
NM_001204.7(BMPR2):c.1276+4A>G rs1085307330
NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg) rs869025367
NM_001204.7(BMPR2):c.1277-10_1277-9insGGG rs886039220
NM_001204.7(BMPR2):c.1277-8A>G rs1085307332
NM_001204.7(BMPR2):c.1277-9A>C rs1085307331
NM_001204.7(BMPR2):c.1277-9A>G rs1085307331
NM_001204.7(BMPR2):c.1285_1286insGGATT (p.Val429fs) rs1085307334
NM_001204.7(BMPR2):c.1285_1292GTACCAGA[1] (p.Glu431fs) rs1085307335
NM_001204.7(BMPR2):c.1296C>G (p.Tyr432Ter) rs1085307336
NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter) rs137852756
NM_001204.7(BMPR2):c.1309_1312CAGA[1] (p.Thr438fs) rs1085307337
NM_001204.7(BMPR2):c.1346T>G (p.Met449Arg) rs1085307338
NM_001204.7(BMPR2):c.1348C>T (p.Gln450Ter) rs868369541
NM_001204.7(BMPR2):c.1366delinsCA (p.Glu456fs) rs1085307339
NM_001204.7(BMPR2):c.1371del (p.Lys457fs) rs1085307340
NM_001204.7(BMPR2):c.1371dup (p.Gln458fs) rs1085307340
NM_001204.7(BMPR2):c.1374_1375GA[1] (p.Arg459fs) rs1085307342
NM_001204.7(BMPR2):c.1387_1388insA (p.Pro463fs) rs1085307343
NM_001204.7(BMPR2):c.1389dup (p.Glu464fs) rs1085307344
NM_001204.7(BMPR2):c.1392del (p.Ala465fs) rs1085307345
NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter) rs1085307346
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1401del (p.Glu468fs) rs1085307347
NM_001204.7(BMPR2):c.1402G>T (p.Glu468Ter) rs1085307348
NM_001204.7(BMPR2):c.1413+1G>A rs1085307349
NM_001204.7(BMPR2):c.1413+3A>T rs1085307350
NM_001204.7(BMPR2):c.1414-2A>T rs1085307351
NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter) rs1085307352
NM_001204.7(BMPR2):c.1426_1450del (p.Leu476fs) rs863223422
NM_001204.7(BMPR2):c.1427del (p.Leu476fs) rs1085307353
NM_001204.7(BMPR2):c.1441G>T (p.Glu481Ter) rs937502048
NM_001204.7(BMPR2):c.1443_1445del (p.Glu481del) rs886039221
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) rs1085307355
NM_001204.7(BMPR2):c.1453G>A (p.Asp485Asn) rs1085307356
NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly) rs137852745
NM_001204.7(BMPR2):c.1456C>T (p.Gln486Ter) rs1085307357
NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val) rs1085307358
NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) rs886039222
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1477dup (p.Thr493fs) rs1085307359
NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter) rs1085307360
NM_001204.7(BMPR2):c.1486T>C (p.Cys496Arg) rs1085307361
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.1513dup (p.Met505fs) rs1559073178
NM_001204.7(BMPR2):c.1523G>A (p.Trp508Ter) rs780722371
NM_001204.7(BMPR2):c.1525G>T (p.Glu509Ter) rs1085307363
NM_001204.7(BMPR2):c.152_153TC[2] (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.1535A>C (p.Lys512Thr) rs1085307364
NM_001204.7(BMPR2):c.1536del (p.Lys512fs)
NM_001204.7(BMPR2):c.1557T>A (p.Asn519Lys) rs1085307365
NM_001204.7(BMPR2):c.1585del (p.Arg529fs) rs1085307366
NM_001204.7(BMPR2):c.1587-7_1587-4del rs769408722
NM_001204.7(BMPR2):c.1629T>G (p.Tyr543Ter) rs759990771
NM_001204.7(BMPR2):c.1662_1663CT[1] (p.Ser555fs)
NM_001204.7(BMPR2):c.1687G>A (p.Val563Met) rs557172581
NM_001204.7(BMPR2):c.168del (p.Thr57fs) rs1085307170
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) rs886039219
NM_001204.7(BMPR2):c.16_20del (p.Gln6fs) rs1085307146
NM_001204.7(BMPR2):c.172_173AT[3] (p.Leu59fs) rs886039223
NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter) rs765887545
NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter) rs777458559
NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter) rs886039673
NM_001204.7(BMPR2):c.178T>C (p.Cys60Arg) rs1085307171
NM_001204.7(BMPR2):c.178T>G (p.Cys60Gly) rs1085307171
NM_001204.7(BMPR2):c.179G>A (p.Cys60Tyr) rs1085307172
NM_001204.7(BMPR2):c.186_187insTACC (p.Gly63fs) rs1553503200
NM_001204.7(BMPR2):c.189_207delinsGGAGCATAATCAAA (p.Ser64fs) rs1085307173
NM_001204.7(BMPR2):c.189_209del (p.Ser64_Trp70del) rs1085307174
NM_001204.7(BMPR2):c.1954_1955dup (p.Val654fs) rs1085307369
NM_001204.7(BMPR2):c.1968dup (p.Gln657fs) rs1085307370
NM_001204.7(BMPR2):c.1969C>T (p.Gln657Ter) rs1085307371
NM_001204.7(BMPR2):c.196T>C (p.Cys66Arg) rs1085307175
NM_001204.7(BMPR2):c.196T>G (p.Cys66Gly) rs1085307175
NM_001204.7(BMPR2):c.1978G>T (p.Glu660Ter) rs1085307372
NM_001204.7(BMPR2):c.197G>A (p.Cys66Tyr) rs1085307176
NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter) rs759293027
NM_001204.7(BMPR2):c.2009del (p.Pro670fs) rs1085307373
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys) rs1085307177
NM_001204.7(BMPR2):c.200dup (p.Tyr67Ter) rs1085307178
NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter) rs1085307179
NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp) rs1085307180
NM_001204.7(BMPR2):c.2124C>G (p.Tyr708Ter) rs1085307374
NM_001204.7(BMPR2):c.2128del (p.Leu710fs) rs1085307375
NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) rs137852742
NM_001204.7(BMPR2):c.21_29delinsA (p.Pro8fs) rs1085307148
NM_001204.7(BMPR2):c.21del (p.Trp9fs) rs1085307147
NM_001204.7(BMPR2):c.2216del (p.Pro739fs)
NM_001204.7(BMPR2):c.2286del (p.Asn764fs) rs1085307376
NM_001204.7(BMPR2):c.2291dup (p.Asn764fs) rs1085307377
NM_001204.7(BMPR2):c.2297del (p.Thr766fs) rs1085307378
NM_001204.7(BMPR2):c.2303_2309del (p.Glu768fs) rs1085307379
NM_001204.7(BMPR2):c.2308del (p.Arg770fs) rs1085307380
NM_001204.7(BMPR2):c.236_238delinsAAAAGGGGACA (p.Leu79fs) rs1085307181
NM_001204.7(BMPR2):c.237del (p.Leu79_Val80insTer) rs1085307182
NM_001204.7(BMPR2):c.2386del (p.Ala796fs) rs1085307381
NM_001204.7(BMPR2):c.2407_2408insTG (p.Thr803fs) rs1085307382
NM_001204.7(BMPR2):c.240_241insT (p.Lys81Ter) rs1085307183
NM_001204.7(BMPR2):c.2410_2413del (p.Val804fs) rs1085307383
NM_001204.7(BMPR2):c.2413dup (p.Thr805fs) rs1085307384
NM_001204.7(BMPR2):c.2440_2441CA[1] (p.His814fs) rs1085307385
NM_001204.7(BMPR2):c.2444_2445GT[3] (p.Asn817fs) rs1085307386
NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter) rs1085307184
NM_001204.7(BMPR2):c.246dup (p.Gly83fs) rs1085307186
NM_001204.7(BMPR2):c.247+1G>A rs1085307188
NM_001204.7(BMPR2):c.247+1_247+7del rs1085307189
NM_001204.7(BMPR2):c.247+2del rs1085307190
NM_001204.7(BMPR2):c.247+6T>G rs1085307191
NM_001204.7(BMPR2):c.247G>A (p.Gly83Arg) rs1085307187
NM_001204.7(BMPR2):c.248-1G>A rs1085307194
NM_001204.7(BMPR2):c.248-2A>G rs1085307193
NM_001204.7(BMPR2):c.248-3T>G rs368090069
NM_001204.7(BMPR2):c.248-592_413delinsGTAAAGTA rs1553503473
NM_001204.7(BMPR2):c.248-5_248delinsAC rs1085307192
NM_001204.7(BMPR2):c.2484del (p.Thr829fs) rs1085307387
NM_001204.7(BMPR2):c.248G>A (p.Gly83Glu) rs1085307195
NM_001204.7(BMPR2):c.2503_2506del (p.Thr835fs) rs1085307389
NM_001204.7(BMPR2):c.2503dup (p.Thr835fs) rs1085307388
NM_001204.7(BMPR2):c.2504del (p.Thr835fs) rs1085307390
NM_001204.7(BMPR2):c.2506_2522del (p.Thr835_Thr836insTer) rs1085307391
NM_001204.7(BMPR2):c.250T>C (p.Cys84Arg) rs1085307196
NM_001204.7(BMPR2):c.250T>G (p.Cys84Gly) rs1085307196
NM_001204.7(BMPR2):c.2519_2520CA[3] (p.Arg842fs) rs1085307392
NM_001204.7(BMPR2):c.251G>T (p.Cys84Phe) rs1085307197
NM_001204.7(BMPR2):c.2527del (p.Ala843fs) rs1085307393
NM_001204.7(BMPR2):c.2533G>T (p.Glu845Ter) rs1085307394
NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter) rs1085307198
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2588G>A (p.Ser863Asn) rs1006246556
NM_001204.7(BMPR2):c.2609del (p.Leu870fs) rs1085307396
NM_001204.7(BMPR2):c.260dup (p.His87fs) rs1085307199
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2620G>T (p.Glu874Ter) rs1085307397
NM_001204.7(BMPR2):c.2626C>T (p.Gln876Ter) rs1085307398
NM_001204.7(BMPR2):c.2668del (p.Arg890fs) rs1085307399
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2696G>C (p.Arg899Pro) rs137852752
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) rs373725296
NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter) rs1085307400
NM_001204.7(BMPR2):c.2737C>T (p.Gln913Ter) rs769603144
NM_001204.7(BMPR2):c.274C>T (p.Gln92Ter) rs1085307201
NM_001204.7(BMPR2):c.2752C>T (p.Gln918Ter) rs1085307401
NM_001204.7(BMPR2):c.277dup (p.Glu93fs) rs1085307202
NM_001204.7(BMPR2):c.2789C>G (p.Ser930Ter) rs1085307402
NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter) rs1085307149
NM_001204.7(BMPR2):c.280T>C (p.Cys94Arg) rs1085307203
NM_001204.7(BMPR2):c.280T>G (p.Cys94Gly) rs1085307203
NM_001204.7(BMPR2):c.28C>T (p.Arg10Trp) rs1085307150
NM_001204.7(BMPR2):c.292G>T (p.Glu98Ter) rs1085307204
NM_001204.7(BMPR2):c.2945A>G (p.Lys982Arg) rs1085307403
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) rs863223425
NM_001204.7(BMPR2):c.296G>A (p.Cys99Tyr) rs1085307205
NM_001204.7(BMPR2):c.296G>T (p.Cys99Phe) rs1085307205
NM_001204.7(BMPR2):c.320C>G (p.Ser107Ter) rs1085307208
NM_001204.7(BMPR2):c.338A>G (p.Tyr113Cys) rs1085307209
NM_001204.7(BMPR2):c.338dup (p.Tyr113Ter) rs1085307210
NM_001204.7(BMPR2):c.339C>A (p.Tyr113Ter) rs1085307211
NM_001204.7(BMPR2):c.339C>G (p.Tyr113Ter) rs1085307211
NM_001204.7(BMPR2):c.339_340insAA (p.Arg114fs) rs1085307212
NM_001204.7(BMPR2):c.345_346del (p.Phe115fs) rs1085307213
NM_001204.7(BMPR2):c.349T>C (p.Cys117Arg) rs1085307214
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.350G>C (p.Cys117Ser) rs1085307215
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216
NM_001204.7(BMPR2):c.353del (p.Cys118fs) rs1085307217
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) rs137852743
NM_001204.7(BMPR2):c.354_355delinsAG (p.Cys118_Ser119delinsTer) rs1085307218
NM_001204.7(BMPR2):c.355del (p.Ser119fs) rs1085307219
NM_001204.7(BMPR2):c.357_358CA[1] (p.Thr120fs) rs1085307220
NM_001204.7(BMPR2):c.367T>A (p.Cys123Ser) rs137852750
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) rs137852750
NM_001204.7(BMPR2):c.370A>G (p.Asn124Asp) rs1085307221
NM_001204.7(BMPR2):c.371dup (p.Asn124fs) rs1085307222
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter) rs1085307151
NM_001204.7(BMPR2):c.399del (p.Pro134fs) rs1085307223
NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter) rs1085307152
NM_001204.7(BMPR2):c.405_406CA[1] (p.Thr136fs) rs1085307224
NM_001204.7(BMPR2):c.408_412del (p.Pro138fs) rs1085307225
NM_001204.7(BMPR2):c.418+1G>C rs1085307226
NM_001204.7(BMPR2):c.418+2_418+4delinsGAG rs1085307227
NM_001204.7(BMPR2):c.418+3A>T rs1085307228
NM_001204.7(BMPR2):c.418+5G>A rs1085307229
NM_001204.7(BMPR2):c.418+5_418+8del rs1085307230
NM_001204.7(BMPR2):c.419-10T>C rs1085307231
NM_001204.7(BMPR2):c.420_421insG (p.Pro141fs) rs1085307232
NM_001204.7(BMPR2):c.435del (p.Phe145fs) rs1085307233
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.449dup (p.Ile151fs) rs1085307234
NM_001204.7(BMPR2):c.44del (p.Pro15fs) rs483352902
NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter) rs1085307153
NM_001204.7(BMPR2):c.482T>A (p.Leu161Ter) rs1085307235
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001204.7(BMPR2):c.498del (p.Ala167fs) rs1085307236
NM_001204.7(BMPR2):c.503dup (p.Leu168fs) rs1085307237
NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter) rs137852747
NM_001204.7(BMPR2):c.507_510delinsAAA (p.Cys169_Phe170delinsTer) rs1085307238
NM_001204.7(BMPR2):c.516C>G (p.Tyr172Ter) rs1085307239
NM_001204.7(BMPR2):c.528del (p.Gly177fs) rs1085307240
NM_001204.7(BMPR2):c.529+2T>C rs1085307241
NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter) rs1085307242
NM_001204.7(BMPR2):c.551_573del (p.His184fs) rs1085307243
NM_001204.7(BMPR2):c.608_609del (p.Leu203fs) rs1085307245
NM_001204.7(BMPR2):c.612del (p.Lys204fs) rs1085307246
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) rs886041324
NM_001204.7(BMPR2):c.642T>G (p.Tyr214Ter) rs1085307247
NM_001204.7(BMPR2):c.659dup (p.Ser221fs) rs1085307248
NM_001204.7(BMPR2):c.664_665delinsAAGG (p.Leu222fs) rs1085307249
NM_001204.7(BMPR2):c.673_679del (p.Arg225fs) rs1085307250
NM_001204.7(BMPR2):c.689_690del (p.Lys230fs) rs1085307251
NM_001204.7(BMPR2):c.690A>T (p.Lys230Asn) rs1085307252
NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs) rs1085307253
NM_001204.7(BMPR2):c.71C>A (p.Ala24Glu) rs370120266
NM_001204.7(BMPR2):c.727G>A (p.Glu243Lys) rs1085307254
NM_001204.7(BMPR2):c.727G>C (p.Glu243Gln) rs1085307254
NM_001204.7(BMPR2):c.727G>T (p.Glu243Ter) rs1085307254
NM_001204.7(BMPR2):c.76+1G>T rs1085307155
NM_001204.7(BMPR2):c.76+2T>C rs1085307156
NM_001204.7(BMPR2):c.76+5G>A rs1085307157
NM_001204.7(BMPR2):c.77-1G>A rs1085307159
NM_001204.7(BMPR2):c.77-35_86del rs1085307158
NM_001204.7(BMPR2):c.775del (p.Arg259fs) rs1085307255
NM_001204.7(BMPR2):c.780_781TA[1] (p.Ile261fs) rs1085307256
NM_001204.7(BMPR2):c.786dup (p.Gly263fs) rs1085307257
NM_001204.7(BMPR2):c.790del (p.Asp264fs) rs1085307258
NM_001204.7(BMPR2):c.794A>G (p.Glu265Gly) rs1085307259
NM_001204.7(BMPR2):c.794_795AG[1] (p.Arg266fs) rs1085307261
NM_001204.7(BMPR2):c.795_796delinsTT (p.Glu265_Arg266delinsAspTer) rs1085307260
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591
NM_001204.7(BMPR2):c.802dup (p.Thr268fs) rs1085307262
NM_001204.7(BMPR2):c.804del (p.Ala269fs) rs1085307263
NM_001204.7(BMPR2):c.82C>T (p.Gln28Ter) rs1085307160
NM_001204.7(BMPR2):c.830T>C (p.Leu277Pro) rs1085307265
NM_001204.7(BMPR2):c.852+1G>A rs1085307266
NM_001204.7(BMPR2):c.852+1G>C rs1085307266
NM_001204.7(BMPR2):c.853-1G>A rs1085307267
NM_001204.7(BMPR2):c.853-1G>C rs1085307267
NM_001204.7(BMPR2):c.853-2A>G rs863223424
NM_001204.7(BMPR2):c.855del (p.Ser286fs) rs1085307268
NM_001204.7(BMPR2):c.860T>A (p.Leu287Ter) rs576091247
NM_001204.7(BMPR2):c.872T>G (p.Leu291Ter) rs1085307269
NM_001204.7(BMPR2):c.872del (p.Tyr290_Leu291insTer) rs1085307270
NM_001204.7(BMPR2):c.88C>T (p.Gln30Ter) rs1085307161
NM_001204.7(BMPR2):c.893G>A (p.Trp298Ter) rs1085307271
NM_001204.7(BMPR2):c.894_895dup (p.Val299fs) rs1085307272
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870
NM_001204.7(BMPR2):c.91G>T (p.Glu31Ter) rs1085307162
NM_001204.7(BMPR2):c.928A>T (p.Arg310Ter) rs1085307273
NM_001204.7(BMPR2):c.932G>A (p.Gly311Glu) rs1085307274
NM_001204.7(BMPR2):c.937G>C (p.Ala313Pro) rs1085307275
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.961del (p.Arg321fs) rs1085307276
NM_001204.7(BMPR2):c.967+2T>C rs1085307277
NM_001204.7(BMPR2):c.967+4del rs1085307278
NM_001204.7(BMPR2):c.967+5G>C rs1085307279
NM_001204.7(BMPR2):c.967+5G>T rs1085307279
NM_001204.7(BMPR2):c.968-1G>T rs1085307282
NM_001204.7(BMPR2):c.968-2A>C rs1085307281
NM_001204.7(BMPR2):c.968-3C>G rs1085307280
NM_001204.7(BMPR2):c.968-5A>G rs1060502584
NM_001204.7(BMPR2):c.969dup (p.His324fs) rs1085307283
NM_001204.7(BMPR2):c.980del (p.Pro327fs) rs1085307284
NM_001204.7(BMPR2):c.992A>G (p.His331Arg) rs1085307285
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751
NM_001204.7(BMPR2):c.9dup (p.Ser4fs) rs1085307145

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