ClinVar Miner

List of variants reported as pathogenic for Cushing syndrome by OMIM

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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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
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.1267G>A (p.Asp423Asn) rs104894264
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.1393C>T (p.Arg465Ter) rs104894267
NM_000244.3(MEN1):c.1594C>T (p.Arg532Ter) rs104894261
NM_000244.3(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_000244.3(MEN1):c.307del (p.Leu103fs) rs794728639
NM_000244.3(MEN1):c.355_357AAG[1] (p.Lys120del) rs794728657
NM_000244.3(MEN1):c.402del (p.Phe134fs) rs397515385
NM_000244.3(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_000244.3(MEN1):c.566T>A (p.Val189Glu) rs104894262
NM_000244.3(MEN1):c.608G>A (p.Trp203Ter) rs104894258
NM_000244.3(MEN1):c.643_646del (p.Thr215fs) rs794728640
NM_000244.3(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_000244.3(MEN1):c.669+1G>A
NM_000244.3(MEN1):c.778G>A (p.Glu260Lys) rs104894268
NM_000244.3(MEN1):c.793C>T (p.Gln265Ter) rs104894266
NM_000244.3(MEN1):c.799-9G>A rs794728625
NM_000244.3(MEN1):c.839+1G>A
NM_000546.5(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.5(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.5(TP53):c.358A>T (p.Lys120Ter) rs121912658
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.455dup (p.Pro153fs) rs730882019
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.532del (p.His178fs) rs786202525
NM_000546.5(TP53):c.628_629del (p.Asn210fs) rs587776768
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
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.755T>C (p.Leu252Pro) rs121912653
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.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.875A>T (p.Lys292Ile) rs121912663
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_001128610.3(USP8):c.2152_2154TCC[1] (p.Ser719del) rs672601306
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_002734.4(PRKAR1A):c.-7+1G>A rs587776773
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.489_490TG[1] (p.Val164fs) rs281864790
NM_002734.4(PRKAR1A):c.708+1G>T rs281864798
NM_002734.4(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.4(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_002734.4(PRKAR1A):c.891+3A>G rs281864799
NM_003719.4(PDE8B):c.914A>C (p.His305Pro) rs121918360
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
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
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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