ClinVar Miner

List of variants reported as pathogenic for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter) rs121918117 0.00018
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_000823.4(GHRHR):c.57+1G>A rs2302022 0.00007
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) rs74315376 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00004
NM_017619.4(RNPC3):c.259C>T (p.Gln87Ter) rs1332137733 0.00004
NM_000306.4(POU1F1):c.472G>C (p.Ala158Pro) rs104893756 0.00003
NM_000823.4(GHRHR):c.431T>A (p.Leu144His) rs121918118 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter) rs121917844 0.00003
NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr) rs370930012 0.00003
NM_021728.4(OTX2):c.698A>G (p.Asn233Ser) rs370761964 0.00003
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) rs587779351 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter) rs761275346 0.00001
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys) rs104893764 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys) rs376948691 0.00001
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys) rs121918119 0.00001
NM_003865.3(HESX1):c.18G>C (p.Gln6His) rs121909173 0.00001
NM_003865.3(HESX1):c.240del (p.Glu81fs) rs777833871 0.00001
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) rs777223697 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_003865.3(HESX1):c.357+2T>C rs575112817 0.00001
NM_003865.3(HESX1):c.478C>T (p.Arg160Cys) rs28936702 0.00001
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter) rs140528998 0.00001
NM_006261.5(PROP1):c.218G>A (p.Arg73His) rs121917842 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006261.5(PROP1):c.63del (p.Leu22fs) rs780134343 0.00001
NM_017619.4(RNPC3):c.1504C>T (p.Arg502Ter) rs918108896 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_033343.4(LHX4):c.452-2A>C rs786204780 0.00001
46;X;t(X;5)(q24;q13)dn
GH1, 6.7-KB DEL
K146R
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.30963945A>C rs2128596101
NC_000007.14:g.31008681G>T rs1562606449
NC_000007.14:g.62535490A>G rs483352872
NC_000009.12:g.(?_136197325)_(136205012_?)del
NC_000017.11:g.(63914995_63921260)del
NC_000023.10:g.(?_100603501)_(100608996_?)del
NC_000023.10:g.(?_100604853)_(100609705_?)del
NC_000023.10:g.(?_100608162)_(100615763_?)del
NC_000023.10:g.(?_100614261)_(100615763_?)del
NC_000023.10:g.(?_100629415)_(100630272_?)del
NC_000023.11:g.(?_101362153)_(101362709_?)dup
NC_000023.11:g.101353342_101353352del
NC_000023.11:g.101353352dup
NC_000023.11:g.101358697del
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs) rs587779349
NM_000061.3(BTK):c.1085A>G (p.His362Arg) rs2147429797
NM_000061.3(BTK):c.1102G>T (p.Gly368Ter) rs2147429777
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter) rs128621197
NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter) rs782429199
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys) rs1555980875
NM_000061.3(BTK):c.1249A>T (p.Lys417Ter) rs1926503277
NM_000061.3(BTK):c.1262G>A (p.Trp421Ter) rs1603005139
NM_000061.3(BTK):c.1278_1291del (p.Val427fs)
NM_000061.3(BTK):c.1321G>T (p.Glu441Ter) rs1603005073
NM_000061.3(BTK):c.1349+1G>A rs2147428155
NM_000061.3(BTK):c.1350-1G>A rs1926477495
NM_000061.3(BTK):c.1379T>A (p.Leu460Ter) rs2147427562
NM_000061.3(BTK):c.138dup (p.Gly47fs) rs2147448137
NM_000061.3(BTK):c.1399C>T (p.Gln467Ter) rs2147427505
NM_000061.3(BTK):c.1420dup (p.Thr474fs) rs2147427470
NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr) rs1313261352
NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000061.3(BTK):c.1535T>C (p.Leu512Pro) rs2147427255
NM_000061.3(BTK):c.1537del (p.Glu513fs)
NM_000061.3(BTK):c.1546C>T (p.Gln516Ter) rs1603004481
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1567-12_1567-9del rs1569291244
NM_000061.3(BTK):c.1567-2A>C
NM_000061.3(BTK):c.1567-2A>G rs1555977598
NM_000061.3(BTK):c.1573C>G (p.Arg525Gly) rs886041149
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter) rs886041149
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)
NM_000061.3(BTK):c.1624_1625insGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCCCCGGGCCCGAGGGCAACGAGCAGACCCCAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGTATCTGATTTCGGCC (p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly)
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro) rs128621203
NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)
NM_000061.3(BTK):c.1631+2T>C rs1926404536
NM_000061.3(BTK):c.1641_1651del (p.Asp548fs) rs2147425053
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.3(BTK):c.1688G>A (p.Trp563Ter) rs1555977474
NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)
NM_000061.3(BTK):c.1694dup (p.Pro566fs)
NM_000061.3(BTK):c.1697C>G (p.Pro566Arg) rs1057521814
NM_000061.3(BTK):c.1713_1714dup (p.Ser572fs) rs1603002367
NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)
NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)
NM_000061.3(BTK):c.1750+1G>A
NM_000061.3(BTK):c.1750+1G>T
NM_000061.3(BTK):c.1750+5G>A rs864321659
NM_000061.3(BTK):c.1751-1G>A
NM_000061.3(BTK):c.1751-1G>C rs1603001846
NM_000061.3(BTK):c.1751-1G>T
NM_000061.3(BTK):c.1751-2A>G
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) rs1603001805
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter) rs1926358858
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) rs1603019594
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) rs1555977339
NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
NM_000061.3(BTK):c.1864del (p.Ala622fs)
NM_000061.3(BTK):c.1881_1882del (p.Thr628fs)
NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)
NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)
NM_000061.3(BTK):c.1922G>A (p.Arg641His) rs1926220192
NM_000061.3(BTK):c.1926del (p.Thr643fs)
NM_000061.3(BTK):c.1931T>C (p.Phe644Ser) rs2147419969
NM_000061.3(BTK):c.215del (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.232C>T (p.Gln78Ter) rs1603019535
NM_000061.3(BTK):c.241-1G>C rs2147444958
NM_000061.3(BTK):c.270del (p.Glu90fs) rs1603017538
NM_000061.3(BTK):c.274del (p.Ile92fs)
NM_000061.3(BTK):c.278C>A (p.Ser93Ter) rs1569295678
NM_000061.3(BTK):c.286G>T (p.Glu96Ter)
NM_000061.3(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.3(BTK):c.309+1G>A
NM_000061.3(BTK):c.310-1G>C rs864321662
NM_000061.3(BTK):c.32T>C (p.Leu11Pro) rs1603020228
NM_000061.3(BTK):c.334T>C (p.Tyr112His) rs1926977049
NM_000061.3(BTK):c.336C>A (p.Tyr112Ter) rs1409835623
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter) rs1409835623
NM_000061.3(BTK):c.349A>C (p.Thr117Pro) rs782820524
NM_000061.3(BTK):c.355del (p.Glu119fs)
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.379del (p.Gln127fs)
NM_000061.3(BTK):c.391+1G>A rs2147443380
NM_000061.3(BTK):c.3G>A (p.Met1Ile) rs1927172387
NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.43del (p.Gln15fs)
NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer) rs1926711302
NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs)
NM_000061.3(BTK):c.465C>A (p.Cys155Ter) rs1926710166
NM_000061.3(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.3(BTK):c.496C>T (p.Gln166Ter) rs1926708861
NM_000061.3(BTK):c.513dup (p.Asn172fs)
NM_000061.3(BTK):c.520+1G>A rs2147435832
NM_000061.3(BTK):c.521-1G>A rs1926696248
NM_000061.3(BTK):c.549_550del (p.Lys183fs)
NM_000061.3(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.3(BTK):c.564del (p.Pro190fs) rs1603009890
NM_000061.3(BTK):c.588+1G>A
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.595A>T (p.Lys199Ter) rs2147433246
NM_000061.3(BTK):c.62C>A (p.Ser21Ter) rs2147448284
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.3(BTK):c.680del (p.Pro227fs) rs1603008449
NM_000061.3(BTK):c.721dup (p.Tyr241fs) rs1603008381
NM_000061.3(BTK):c.754del (p.Trp252fs)
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.756G>A (p.Trp252Ter) rs1603008349
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.778C>T (p.Gln260Ter)
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.82C>T (p.Arg28Cys) rs1927168815
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.83G>T (p.Arg28Leu) rs128620185
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.889C>T (p.Gln297Ter)
NM_000061.3(BTK):c.894+1G>A rs1064793859
NM_000061.3(BTK):c.895-1G>T rs1926563964
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.895-2A>T
NM_000061.3(BTK):c.895-37_928del rs1926563302
NM_000061.3(BTK):c.951_952del (p.Ser318fs)
NM_000061.3(BTK):c.953_956del (p.Ser318fs)
NM_000061.3(BTK):c.957_958del (p.Phe320fs)
NM_000061.3(BTK):c.974+1G>A
NM_000061.3(BTK):c.975-1G>T rs2147429973
NM_000193.4(SHH):c.562+1G>A
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000306.4(POU1F1):c.143-66T>G rs2106940833
NM_000306.4(POU1F1):c.143-68T>A rs2106940845
NM_000306.4(POU1F1):c.143-69T>G rs2106940848
NM_000306.4(POU1F1):c.143-71T>G rs2106940851
NM_000306.4(POU1F1):c.143-73T>G rs2106940853
NM_000306.4(POU1F1):c.404T>G (p.Phe135Cys) rs104893761
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
NM_000306.4(POU1F1):c.428G>A (p.Arg143Gln) rs104893759
NM_000306.4(POU1F1):c.433A>T (p.Lys145Ter) rs104893763
NM_000306.4(POU1F1):c.514C>T (p.Arg172Ter) rs104893754
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000306.4(POU1F1):c.537C>G (p.Ser179Arg) rs104893766
NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg) rs104893758
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000306.4(POU1F1):c.665+1G>T rs515726221
NM_000306.4(POU1F1):c.715C>T (p.Pro239Ser) rs104893762
NM_000306.4(POU1F1):c.71C>T (p.Pro24Leu) rs104893757
NM_000306.4(POU1F1):c.747del (p.Glu250fs) rs587776798
NM_000306.4(POU1F1):c.748G>T (p.Glu250Ter) rs104893760
NM_000306.4(POU1F1):c.775dup (p.Arg259fs) rs587776799
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp) rs104893755
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000515.5(GH1):c.172-2A>T rs863223309
NM_000515.5(GH1):c.172G>A (p.Glu58Lys) rs2144739391
NM_000515.5(GH1):c.173A>C (p.Glu58Ala) rs2144739380
NM_000515.5(GH1):c.176A>G (p.Glu59Gly) rs2144739370
NM_000515.5(GH1):c.236G>C (p.Cys79Ser) rs137853222
NM_000515.5(GH1):c.245_246del (p.Glu82fs)
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000515.5(GH1):c.291+1G>C rs71640277
NM_000515.5(GH1):c.291+28G>A rs863223306
NM_000515.5(GH1):c.291+29_291+46del rs2144738731
NM_000515.5(GH1):c.291+2T>C rs863223310
NM_000515.5(GH1):c.291+5G>A rs863223307
NM_000515.5(GH1):c.291+6T>C rs797044450
NM_000515.5(GH1):c.292-37_292-16del
NM_000515.5(GH1):c.307C>T (p.Arg103Cys) rs137853220
NM_000515.5(GH1):c.413A>G (p.Asp138Gly) rs137853221
NM_000515.5(GH1):c.456+1G>C rs797044449
NM_000515.5(GH1):c.456+1G>T rs797044449
NM_000515.5(GH1):c.456+5G>C rs863223308
NM_000515.5(GH1):c.52del (p.Leu18fs)
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu) rs121918120
NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter) rs2128598609
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu) rs121918121
NM_002941.4(ROBO1):c.1690C>T (p.Pro564Ser) rs1229827011
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) rs2081940708
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003865.3(HESX1):c.135G>A (p.Trp45Ter) rs2107565760
NM_003865.3(HESX1):c.173del (p.Leu58fs) rs2060466023
NM_003865.3(HESX1):c.241G>T (p.Glu81Ter)
NM_003865.3(HESX1):c.305_306del (p.Glu102fs)
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs) rs748460226
NM_003865.3(HESX1):c.389del (p.Asn130fs)
NM_003865.3(HESX1):c.450_451del (p.Asp150fs) rs587776664
NM_003865.3(HESX1):c.525del (p.Asn178fs)
NM_003865.3(HESX1):c.77T>C (p.Ile26Thr) rs28936416
NM_005121.3(MED13):c.1968-501_2181+590del
NM_005121.3(MED13):c.1968-866_2181+621del
NM_005121.3(MED13):c.1968-867_2181+479del
NM_005149.3(TBX19):c.158_159del (p.Arg53fs) rs763818059
NM_005149.3(TBX19):c.257T>G (p.Met86Arg) rs74315378
NM_005149.3(TBX19):c.265del (p.Leu89fs) rs1558190339
NM_005149.3(TBX19):c.383C>T (p.Ser128Phe) rs74315377
NM_005149.3(TBX19):c.568C>T (p.Gln190Ter) rs1553289042
NM_005149.3(TBX19):c.665+1G>T rs1649150256
NM_005149.3(TBX19):c.665+1del rs1558192351
NM_005149.3(TBX19):c.688G>T (p.Glu230Ter) rs930801019
NM_005149.3(TBX19):c.782del (p.Asn261fs) rs730880274
NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla)
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)
NM_006261.5(PROP1):c.109+1G>A
NM_006261.5(PROP1):c.109+1G>T rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.150_151del (p.Gly52fs) rs587776681
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser) rs121917841
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter) rs140016178
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs) rs587779348
NM_017619.4(RNPC3):c.1228T>G (p.Phe410Val) rs2101050974
NM_017619.4(RNPC3):c.1421del (p.Pro474fs) rs1461692571
NM_017619.4(RNPC3):c.1449A>T (p.Leu483Phe) rs2101053814
NM_017619.4(RNPC3):c.261dup (p.Leu88fs) rs2101044148
NM_017619.4(RNPC3):c.443G>C (p.Gly148Ala) rs2101044774
NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter) rs939646611
NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr) rs121912644
NM_033343.4(LHX4):c.293dup (p.Thr99fs) rs587776662
NM_033343.4(LHX4):c.569T>G (p.Leu190Arg) rs121912643
NM_033343.4(LHX4):c.607-1G>C rs748268631
NM_033343.4(LHX4):c.628G>C (p.Ala210Pro) rs121912641
NM_178138.6(LHX3):c.133A>T (p.Lys45Ter) rs137854506
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter) rs774533927
NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs) rs137854504
NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys) rs104894117
NM_178138.6(LHX3):c.354C>A (p.Cys118Ter)
NM_178138.6(LHX3):c.452_454+20del rs587776711
NM_178138.6(LHX3):c.629C>T (p.Ala210Val) rs137854503
NM_178138.6(LHX3):c.672G>A (p.Trp224Ter) rs137854505
NM_178138.6(LHX3):c.80-2A>G rs2131036410
NM_178138.6(LHX3):c.80-530_776-454del
NM_178138.6(LHX3):c.96del (p.Gly33fs) rs587776712
SOX3, DUP

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