ClinVar Miner

List of variants reported as pathogenic for Cushing syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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HGVS dbSNP
ARMC5, 1-BP DEL, G
CHEK2, 1-BP DEL, 1100C
CHEK2, 1-BP DEL, 1422T
MEN1, 1-BP DEL, 7773C
MEN1, 1-BP INS, 1657C
MEN1, 12-BP DEL, NT1466
MEN1, 3-BP DEL, 2641GAA
MEN1, 4-BP DEL, 4480CAGT
MEN1, 6-BP INS, NT879
NC_000011.9:g.(?_64570986)_(64572288_?)del
NC_000011.9:g.(?_64570986)_(64577604_?)del
NC_000011.9:g.(?_64571796)_(64578188_?)del
NC_000011.9:g.(?_64577131)_(64577587_?)del
NC_000017.10:g.(?_66508520)_(66526600_?)del
NC_000017.10:g.(?_66511525)_(66525142_?)del
NC_000017.10:g.(?_66511535)_(66526596_?)del
NC_000017.10:g.(?_7572917)_(7579922_?)del
NC_000017.10:g.(?_7572917)_(7591611_?)del
NC_000017.10:g.(?_7572917)_(8285638_?)del
NC_000017.10:g.(?_7572921)_(7579918_?)del
NC_000017.10:g.(?_7590924)_(7591611_?)del
NC_000017.11:g.(?_68512379)_(68512548_?)del
NC_000017.11:g.(?_68512379)_(68533431_?)del
NC_000017.11:g.(?_68515394)_(68515576_?)del
NC_000017.11:g.(?_68528870)_(68530449_?)del
NM_000244.3(MEN1):c.1037G>A (p.Trp346Ter) rs1114167482
NM_000244.3(MEN1):c.1064+1G>A rs1114167489
NM_000244.3(MEN1):c.1065-2A>G
NM_000244.3(MEN1):c.1065-2A>T rs1565642765
NM_000244.3(MEN1):c.1077C>A (p.Cys359Ter) rs104894265
NM_000244.3(MEN1):c.1102_1104del (p.Glu368del) rs869025185
NM_000244.3(MEN1):c.1118C>A (p.Ala373Asp) rs1555164707
NM_000244.3(MEN1):c.1189G>T (p.Glu397Ter) rs772588551
NM_000244.3(MEN1):c.1208dup (p.Ser404fs) rs1555164430
NM_000244.3(MEN1):c.1228C>T (p.Gln410Ter) rs864622615
NM_000244.3(MEN1):c.1234_1235del (p.Asp411_Pro412insTer)
NM_000244.3(MEN1):c.1235_1236del (p.Pro412fs)
NM_000244.3(MEN1):c.1239_1240insGTCC (p.Cys414fs) rs1114167524
NM_000244.3(MEN1):c.1258C>T (p.Arg420Ter) rs1060499974
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.1268_1271del (p.Asp423fs)
NM_000244.3(MEN1):c.1321T>A (p.Trp441Arg) rs104894259
NM_000244.3(MEN1):c.1322G>A (p.Trp441Ter) rs104894260
NM_000244.3(MEN1):c.1326del (p.Thr443fs)
NM_000244.3(MEN1):c.1339C>T (p.Gln447Ter) rs794728654
NM_000244.3(MEN1):c.1349del (p.Gly450fs) rs1565640081
NM_000244.3(MEN1):c.1365+1_1365+11del rs764570645
NM_000244.3(MEN1):c.1366-2_*132del rs1565634591
NM_000244.3(MEN1):c.1366_*820del (p.Val456fs)
NM_000244.3(MEN1):c.1390_1397del (p.Ser464fs) rs1555163883
NM_000244.3(MEN1):c.1393C>T (p.Arg465Ter) rs104894267
NM_000244.3(MEN1):c.1397_1404dup (p.Ala469fs) rs1114167531
NM_000244.3(MEN1):c.1397_1419dup (p.Glu474fs) rs1555163780
NM_000244.3(MEN1):c.1415_1428del (p.Ala472fs)
NM_000244.3(MEN1):c.1421_1428dup (p.Gly477fs) rs1114167536
NM_000244.3(MEN1):c.1427G>A (p.Trp476Ter) rs1060499991
NM_000244.3(MEN1):c.142del (p.Leu48fs) rs1555166681
NM_000244.3(MEN1):c.1435del (p.Glu479fs)
NM_000244.3(MEN1):c.1444G>T (p.Glu482Ter) rs863224526
NM_000244.3(MEN1):c.1488del (p.Glu496fs) rs1555163646
NM_000244.3(MEN1):c.1550C>G (p.Ser517Ter) rs141679530
NM_000244.3(MEN1):c.1561del (p.Arg521fs) rs767319284
NM_000244.3(MEN1):c.1561dup (p.Arg521fs) rs767319284
NM_000244.3(MEN1):c.1594C>T (p.Arg532Ter) rs104894261
NM_000244.3(MEN1):c.1675C>T (p.Gln559Ter) rs794728631
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.1685del (p.Lys562fs)
NM_000244.3(MEN1):c.1689dup (p.Lys564fs) rs1565635941
NM_000244.3(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_000244.3(MEN1):c.191_195AGCCC[3] (p.Asp70fs) rs1555166609
NM_000244.3(MEN1):c.197_201GCCCC[3] (p.Asp70fs) rs730882136
NM_000244.3(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_000244.3(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_000244.3(MEN1):c.237del (p.Val80fs) rs1114167486
NM_000244.3(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_000244.3(MEN1):c.252_253insTT (p.Ile85fs) rs386134253
NM_000244.3(MEN1):c.280_284dup (p.Gln96fs) rs1555166494
NM_000244.3(MEN1):c.307del (p.Leu103fs) rs794728639
NM_000244.3(MEN1):c.317_318del (p.Tyr106fs) rs1555166466
NM_000244.3(MEN1):c.318T>A (p.Tyr106Ter) rs1060499987
NM_000244.3(MEN1):c.322C>T (p.Arg108Ter) rs794728647
NM_000244.3(MEN1):c.322_323insT (p.Arg108fs) rs1565651568
NM_000244.3(MEN1):c.323del (p.Arg108fs) rs878855191
NM_000244.3(MEN1):c.346G>T (p.Glu116Ter) rs1060499992
NM_000244.3(MEN1):c.355_357AAG[1] (p.Lys120del) rs794728657
NM_000244.3(MEN1):c.358A>T (p.Lys120Ter) rs878855192
NM_000244.3(MEN1):c.378G>A (p.Trp126Ter) rs1555166365
NM_000244.3(MEN1):c.386del (p.Leu129fs) rs1565651223
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000244.3(MEN1):c.402del (p.Phe134fs) rs397515385
NM_000244.3(MEN1):c.406_415delinsTCCCT (p.Asp136fs)
NM_000244.3(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_000244.3(MEN1):c.421C>T (p.Gln141Ter) rs886039553
NM_000244.3(MEN1):c.461-1G>C
NM_000244.3(MEN1):c.493G>C (p.Ala165Pro) rs1565648656
NM_000244.3(MEN1):c.510C>A (p.Cys170Ter)
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000244.3(MEN1):c.563G>A (p.Trp188Ter) rs794728650
NM_000244.3(MEN1):c.566T>A (p.Val189Glu) rs104894262
NM_000244.3(MEN1):c.578_579del (p.Pro193fs) rs1555165756
NM_000244.3(MEN1):c.608G>A (p.Trp203Ter) rs104894258
NM_000244.3(MEN1):c.609G>A (p.Trp203Ter) rs104894257
NM_000244.3(MEN1):c.638_1065-143del
NM_000244.3(MEN1):c.640C>T (p.Gln214Ter) rs1565647767
NM_000244.3(MEN1):c.643_646del (p.Thr215fs) rs794728640
NM_000244.3(MEN1):c.648del (p.Asn217fs) rs878855196
NM_000244.3(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_000244.3(MEN1):c.669+1G>A
NM_000244.3(MEN1):c.669+1G>T rs794728622
NM_000244.3(MEN1):c.670-1G>A
NM_000244.3(MEN1):c.674G>A (p.Trp225Ter) rs1565647197
NM_000244.3(MEN1):c.696C>A (p.Tyr232Ter) rs778921501
NM_000244.3(MEN1):c.749del (p.Pro250fs) rs1565646772
NM_000244.3(MEN1):c.754_760del (p.Ile252fs) rs1555165503
NM_000244.3(MEN1):c.761_764dup (p.Thr256fs)
NM_000244.3(MEN1):c.773del (p.Ser258fs)
NM_000244.3(MEN1):c.778G>A (p.Glu260Lys) rs104894268
NM_000244.3(MEN1):c.787C>T (p.Gln263Ter) rs886039416
NM_000244.3(MEN1):c.793C>T (p.Gln265Ter) rs104894266
NM_000244.3(MEN1):c.796C>T (p.Gln266Ter) rs1057520733
NM_000244.3(MEN1):c.798+1G>A rs794728652
NM_000244.3(MEN1):c.799-9G>A rs794728625
NM_000244.3(MEN1):c.810G>A (p.Trp270Ter)
NM_000244.3(MEN1):c.838del (p.Arg280fs) rs1555165360
NM_000244.3(MEN1):c.839+1G>A
NM_000244.3(MEN1):c.839+1G>T rs1060499976
NM_000244.3(MEN1):c.839G>A (p.Arg280Lys)
NM_000244.3(MEN1):c.843C>A (p.Tyr281Ter) rs1060503789
NM_000244.3(MEN1):c.85C>T (p.Arg29Ter) rs794728615
NM_000244.3(MEN1):c.928-2A>G rs1114167498
NM_000244.3(MEN1):c.955_1065-227del rs1555164870
NM_000244.3(MEN1):c.984C>A (p.Tyr328Ter) rs750904332
NM_000244.3(MEN1):c.984C>G (p.Tyr328Ter) rs750904332
NM_000546.5(TP53):c.-202_*1207del
NM_000546.5(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.5(TP53):c.1010G>A (p.Arg337His) rs121912664
NM_000546.5(TP53):c.1015G>T (p.Glu339Ter) rs17882252
NM_000546.5(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.5(TP53):c.1043_1051delinsG (p.Leu348_Lys351delinsTer) rs1567541951
NM_000546.5(TP53):c.1101-2A>G rs587781664
NM_000546.5(TP53):c.112del (p.Gln38fs) rs1555526795
NM_000546.5(TP53):c.140del (p.Pro47fs) rs1567557016
NM_000546.5(TP53):c.151G>T (p.Glu51Ter) rs1567556930
NM_000546.5(TP53):c.155_156del (p.Gln52fs) rs1555526750
NM_000546.5(TP53):c.156dup (p.Trp53fs) rs1555526748
NM_000546.5(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.5(TP53):c.196dup (p.Met66fs)
NM_000546.5(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.5(TP53):c.250del (p.Ala84fs)
NM_000546.5(TP53):c.257_279del (p.Ala86fs) rs886041861
NM_000546.5(TP53):c.2588dup rs1555523630
NM_000546.5(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.5(TP53):c.295del (p.Ser99fs) rs1555526593
NM_000546.5(TP53):c.310C>T (p.Gln104Ter) rs1567555934
NM_000546.5(TP53):c.321C>A (p.Tyr107Ter) rs770776262
NM_000546.5(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.5(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.329_330delinsCC (p.Arg110Pro)
NM_000546.5(TP53):c.334_364dup (p.Val122fs) rs1555526495
NM_000546.5(TP53):c.342dup (p.His115fs)
NM_000546.5(TP53):c.358A>T (p.Lys120Ter) rs121912658
NM_000546.5(TP53):c.372C>A (p.Cys124Ter) rs1555526478
NM_000546.5(TP53):c.375+1G>T
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.383del (p.Pro128fs)
NM_000546.5(TP53):c.398T>C (p.Met133Thr) rs28934873
NM_000546.5(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.438G>A (p.Trp146Ter) rs1131691026
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_000546.5(TP53):c.455dup (p.Pro153fs) rs730882019
NM_000546.5(TP53):c.45del (p.Gln16fs) rs1555526997
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.5(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.492_493delinsCT (p.Lys164_Gln165delinsAsnTer) rs1567553215
NM_000546.5(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.5(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.5(TP53):c.501del (p.Gln167fs) rs1567553148
NM_000546.5(TP53):c.509_510dup (p.Glu171fs)
NM_000546.5(TP53):c.511G>T (p.Glu171Ter) rs587781845
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.517_535dup (p.His179fs) rs1567552753
NM_000546.5(TP53):c.522_559+5del rs1555525957
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.532del (p.His178fs) rs786202525
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.5(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.5(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.551_554del (p.Asp184fs)
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.5(TP53):c.628_629del (p.Asn210fs) rs587776768
NM_000546.5(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.652G>A (p.Val218Met) rs878854072
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.5(TP53):c.662del (p.Glu221fs) rs878854071
NM_000546.5(TP53):c.672+1G>A rs863224499
NM_000546.5(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.5(TP53):c.673-1G>T rs878854073
NM_000546.5(TP53):c.673-2A>G rs1555525585
NM_000546.5(TP53):c.702_714del (p.His233_Tyr234insTer) rs1567549676
NM_000546.5(TP53):c.711del (p.Met237fs)
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_000546.5(TP53):c.715_724del (p.Asn239fs) rs1555525518
NM_000546.5(TP53):c.716del (p.Asn239fs) rs1060501197
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.755T>C (p.Leu252Pro) rs121912653
NM_000546.5(TP53):c.766dup (p.Thr256fs)
NM_000546.5(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.790del (p.Leu264fs) rs1060501194
NM_000546.5(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.5(TP53):c.801dup (p.Asn268fs)
NM_000546.5(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.5(TP53):c.812_815dup (p.Arg273fs)
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.831T>A (p.Cys277Ter) rs1057523347
NM_000546.5(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_000546.5(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.5(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.5(TP53):c.848_857del (p.Arg283fs) rs1555525170
NM_000546.5(TP53):c.848_867dup (p.Arg290fs)
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_000546.5(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.86del (p.Asn29fs) rs1555526931
NM_000546.5(TP53):c.870dup (p.Lys291fs) rs1555525140
NM_000546.5(TP53):c.875A>T (p.Lys292Ile) rs121912663
NM_000546.5(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_000546.5(TP53):c.901_902dup (p.Gly302fs)
NM_000546.5(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.5(TP53):c.917_919+10del rs1555525040
NM_000546.5(TP53):c.917_919+15del
NM_000546.5(TP53):c.917_919+6del rs1567546716
NM_000546.5(TP53):c.919+1G>A rs1131691039
NM_000546.5(TP53):c.945del (p.Gln317fs)
NM_000546.5(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000546.5(TP53):c.949del (p.Gln317fs) rs1567546196
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000546.5(TP53):c.97-11C>G
NM_000546.5(TP53):c.973G>T (p.Gly325Ter) rs863224500
NM_000546.5(TP53):c.976G>T (p.Glu326Ter) rs876659384
NM_000546.5(TP53):c.990_993del (p.Gln331fs) rs1555524949
NM_000546.5(TP53):c.993+1G>A rs11575997
NM_000546.5(TP53):c.993+1G>C rs11575997
NM_000546.5(TP53):c.994-1G>C rs587782272
NM_001077488.4(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_001077488.4(GNAS):c.604C>A (p.Arg202Ser) rs11554273
NM_001077488.4(GNAS):c.604C>G (p.Arg202Gly) rs11554273
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001077488.4(GNAS):c.682C>A (p.Gln228Lys) rs797045203
NM_001077488.4(GNAS):c.683A>G (p.Gln228Arg) rs121913494
NM_001077488.4(GNAS):c.683A>T (p.Gln228Leu) rs121913494
NM_001077488.4(GNAS):c.684G>T (p.Gln228His) rs137854533
NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_001126112.2(TP53):c.363_364TG[1] (p.Val122fs) rs587780067
NM_001126112.2(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_001126112.2(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_001126112.2(TP53):c.788del (p.Asn263fs)
NM_001126112.2(TP53):c.818_819GT[1] (p.Val274fs) rs1567547933
NM_001126112.2(TP53):c.837_838GA[2] (p.Asp281fs) rs1567547661
NM_001126112.2(TP53):c.844_847delinsAG (p.Arg283fs) rs1555525209
NM_001288767.2(ARMC5):c.1084C>T (p.Arg362Ter) rs369721476
NM_001288767.2(ARMC5):c.1379T>C (p.Leu460Pro) rs587777663
NM_001288767.2(ARMC5):c.1928T>C (p.Leu643Pro) rs587777661
NM_001288767.2(ARMC5):c.2062C>T (p.Arg688Trp) rs587777662
NM_001288767.2(ARMC5):c.2977C>T (p.Arg993Trp) rs587777659
NM_001288767.2(ARMC5):c.541C>T (p.Gln181Ter) rs587777660
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_002730.4(PRKACA):c.597_599dup (p.Cys200_Gly201insTrp) rs724160013
NM_002734.4(PRKAR1A):c.-7+1G>A rs587776773
NM_002734.4(PRKAR1A):c.101_105del (p.Ser34fs) rs281864788
NM_002734.4(PRKAR1A):c.109C>T (p.Gln37Ter) rs281864781
NM_002734.4(PRKAR1A):c.124C>T (p.Arg42Ter) rs281864782
NM_002734.4(PRKAR1A):c.139del (p.Met47fs) rs281864789
NM_002734.4(PRKAR1A):c.177+1G>A rs1555811753
NM_002734.4(PRKAR1A):c.177+3A>G rs797044568
NM_002734.4(PRKAR1A):c.178-2A>G rs281864796
NM_002734.4(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_002734.4(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_002734.4(PRKAR1A):c.289C>T (p.Arg97Ter) rs1555813217
NM_002734.4(PRKAR1A):c.348+1G>C rs281864797
NM_002734.4(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.4(PRKAR1A):c.489_490TG[1] (p.Val164fs) rs281864790
NM_002734.4(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.4(PRKAR1A):c.550-8_550-1del rs281864800
NM_002734.4(PRKAR1A):c.566_567delinsCAC (p.Glu189fs) rs281864792
NM_002734.4(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_002734.4(PRKAR1A):c.638C>A (p.Ala213Asp) rs281864786
NM_002734.4(PRKAR1A):c.671G>A (p.Trp224Ter) rs1568698504
NM_002734.4(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_002734.4(PRKAR1A):c.693dup (p.Arg232Ter) rs281864793
NM_002734.4(PRKAR1A):c.708+1G>T rs281864798
NM_002734.4(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.4(PRKAR1A):c.711_712dup (p.Ser238fs) rs281864794
NM_002734.4(PRKAR1A):c.764_768del (p.Ile255fs) rs1555814477
NM_002734.4(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_002734.4(PRKAR1A):c.812dup (p.Leu271fs) rs1568701362
NM_002734.4(PRKAR1A):c.82C>T (p.Gln28Ter) rs281864780
NM_002734.4(PRKAR1A):c.846_847insA (p.Val283fs) rs281864795
NM_002734.4(PRKAR1A):c.85_95del (p.Ala29fs) rs281864787
NM_002734.4(PRKAR1A):c.891+3A>G rs281864799
NM_003719.4(PDE8B):c.914A>C (p.His305Pro) rs121918360
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152_2154TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) rs672601308
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115
NM_130799.2(MEN1):c.1024delG (p.Ala342Argfs) rs1555164986
NM_130799.2(MEN1):c.1174del (p.Glu392fs) rs386134247
NM_212472.2(PRKAR1A):c.178_348del171 (p.Glu60_Lys116del) rs1555813158
NM_212472.2(PRKAR1A):c.660_661TG[1] (p.Val221fs) rs1568698487
PRKAR1A, 1-BP DEL, 710G
PRKAR1A, 16-BP DEL
PRKAR1A, 2-BP DEL, 576TG
PRKAR1A, 2-BP DEL, 845TC
TP53, 1-BP DEL, CODON 257
TP53, 11-BP DEL/5-BP INS

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