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

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		ClinVar version:

Total variants: 107

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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_003865.3(HESX1):c.541A>G (p.Thr181Ala)	rs28936704	0.00008
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_000306.4(POU1F1):c.472G>C (p.Ala158Pro)	rs104893756	0.00003
NM_000823.4(GHRHR):c.431T>A (p.Leu144His)	rs121918118	0.00003
NM_003865.3(HESX1):c.445G>A (p.Glu149Lys)	rs104893742	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_017619.4(RNPC3):c.259C>T (p.Gln87Ter)	rs1332137733	0.00003
NM_021728.4(OTX2):c.698A>G (p.Asn233Ser)	rs370761964	0.00003
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)	rs121918121	0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	rs137853100	0.00002
NC_000007.14:g.30963945A>C	rs2128596101	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.725T>G (p.Phe242Cys)	rs121918119	0.00001
NM_003865.3(HESX1):c.18G>C (p.Gln6His)	rs121909173	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_006261.5(PROP1):c.218G>A (p.Arg73His)	rs121917842	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
GH1, 6.7-KB DEL
K146R
NC_000009.12:g.(?_136197325)_(136205012_?)del
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter)	rs128621197
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)	rs128621203
NM_000061.3(BTK):c.1750+5G>A	rs864321659
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.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.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_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)	rs1907472729
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	rs2509250570
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)	rs2509253023
NM_000515.5(GH1):c.59G>A (p.Trp20Ter)	rs137853219
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)	rs121918120
NM_002941.4(ROBO1):c.1690C>T (p.Pro564Ser)	rs1229827011
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser)	rs2081940708
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs)	rs748460226
NM_003865.3(HESX1):c.450_451del (p.Asp150fs)	rs587776664
NM_003865.3(HESX1):c.525del (p.Asn178fs)	rs2471733263
NM_003865.3(HESX1):c.77T>C (p.Ile26Thr)	rs28936416
NM_005149.3(TBX19):c.257T>G (p.Met86Arg)	rs74315378
NM_005149.3(TBX19):c.383C>T (p.Ser128Phe)	rs74315377
NM_005149.3(TBX19):c.782del (p.Asn261fs)	rs730880274
NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla)	rs776775669
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.582G>A (p.Trp194Ter)	rs121917845
NM_017619.4(RNPC3):c.1228T>G (p.Phe410Val)	rs2101050974
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.287_288delinsTCCT (p.Gly96fs)	rs137854504
NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys)	rs104894117
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.80-530_776-454del
NM_178138.6(LHX3):c.96del (p.Gly33fs)	rs587776712
SOX3, DUP

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