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

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		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)	rs121917840	0.00010
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)	rs770886420	0.00004
NM_006261.5(PROP1):c.359G>A (p.Arg120His)	rs769171020	0.00004
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val)	rs774281185	0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	rs137853100	0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)	rs146918863	0.00002
NM_000306.4(POU1F1):c.212C>T (p.Ala71Val)	rs771947200	0.00001
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)	rs761275346	0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His)	rs137853223	0.00001
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)	rs200848306	0.00001
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter)	rs1049885467	0.00001
NM_005149.3(TBX19):c.206G>A (p.Arg69Gln)	rs1310982370	0.00001
NM_005149.3(TBX19):c.608C>T (p.Thr203Met)	rs748717639	0.00001
NM_006261.5(PROP1):c.110-2A>G	rs1057516846	0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)	rs766673446	0.00001
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)	rs397514487	0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)	rs121912642	0.00001
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
NC_000003.12:g.87310484C>T	rs606231411
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)
NM_000061.3(BTK):c.1300_1909-813del
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del)	rs1927166327
NM_000061.3(BTK):c.1361A>C (p.His454Pro)
NM_000061.3(BTK):c.1361A>G (p.His454Arg)
NM_000061.3(BTK):c.1361A>T (p.His454Leu)
NM_000061.3(BTK):c.141+1G>C
NM_000061.3(BTK):c.1513G>T (p.Val505Phe)	rs1603004514
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly)	rs128621201
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu)	rs2147427209
NM_000061.3(BTK):c.1567-117_1604del	rs2147425786
NM_000061.3(BTK):c.1631+5G>C	rs1926404279
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)
NM_000061.3(BTK):c.167T>C (p.Ile56Thr)	rs1927146374
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser)	rs1603002421
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
NM_000061.3(BTK):c.1747T>G (p.Phe583Val)	rs1926378381
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu)	rs1603001805
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)	rs128621210
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser)	rs1926352588
NM_000061.3(BTK):c.1908+1G>T	rs2147423955
NM_000061.3(BTK):c.1908+2dup
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu)	rs1926219727
NM_000061.3(BTK):c.240+109C>A	rs2147447393
NM_000061.3(BTK):c.305T>C (p.Phe102Ser)	rs2147444867
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)
NM_000061.3(BTK):c.839+1G>C	rs1569292649
NM_000061.3(BTK):c.840-1G>A	rs193922131
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)	rs128621194
NM_000061.3(BTK):c.884T>C (p.Leu295Pro)	rs1926588125
NM_000061.3(BTK):c.974+5G>C	rs2147430161
NM_000306.4(POU1F1):c.215-3C>G	rs754584667
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro)	rs1559614730
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	rs104893765
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs)	rs772390221
NM_000306.4(POU1F1):c.662T>C (p.Ile221Thr)	rs2106927025
NM_000515.5(GH1):c.131A>C (p.His44Pro)	rs754126557
NM_000515.5(GH1):c.254C>T (p.Pro85Leu)	rs1567803095
NM_000515.5(GH1):c.334T>C (p.Trp112Arg)
NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter)
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)	rs606231412
NM_000823.4(GHRHR):c.495C>A (p.His165Gln)	rs606231413
NM_000823.4(GHRHR):c.[1102C>T;481C>T]
NM_001080449.3(DNA2):c.3114+6del	rs587777614
NM_002941.4(ROBO1):c.2440_2442+4del
NM_003865.3(HESX1):c.158-1G>C	rs1238248024
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
NM_003865.3(HESX1):c.3G>A (p.Met1Ile)	rs2107566038
NM_006261.5(PROP1):c.109+1G>T	rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	rs587776682
NM_006261.5(PROP1):c.129dup (p.Arg44fs)	rs2113064591
NM_006261.5(PROP1):c.156dup (p.Arg53fs)	rs1554182514
NM_006261.5(PROP1):c.191dup (p.Arg65fs)	rs1554182507
NM_006261.5(PROP1):c.197dup (p.His67fs)	rs1057517424
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
NM_006261.5(PROP1):c.274C>T (p.Gln92Ter)	rs794726693
NM_006261.5(PROP1):c.288_289del (p.Ile96fs)	rs1057516832
NM_006261.5(PROP1):c.2T>C (p.Met1Thr)	rs1554182645
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs)	rs786204663
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter)	rs1554182481
NM_006261.5(PROP1):c.342+1G>A	rs1436089021
NM_006261.5(PROP1):c.343-1G>A
NM_006261.5(PROP1):c.343-2A>T	rs1057517041
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)	rs1554182405
NM_006261.5(PROP1):c.390_391del (p.Leu131fs)	rs1057517027
NM_006261.5(PROP1):c.3G>C (p.Met1Ile)	rs1064797071
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)	rs140016178
NM_006261.5(PROP1):c.557del (p.Ala186fs)	rs762529663
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)	rs121917845
NM_006261.5(PROP1):c.611del (p.Gly204fs)	rs1554182368
NM_006261.5(PROP1):c.629del (p.Pro210fs)	rs761018422
NM_006261.5(PROP1):c.629dup (p.Pro211fs)	rs761018422
NM_006261.5(PROP1):c.74_75dup (p.His26fs)	rs1554182632
NM_017619.4(RNPC3):c.894-2A>G
NM_020336.3(RALGAPB):c.[1918A>G];[2324G>T]
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)	rs758022116
NM_178138.6(LHX3):c.280C>T (p.Gln94Ter)	rs2131034777
NM_178138.6(LHX3):c.581C>G (p.Thr194Arg)	rs2131032901
NM_178138.6(LHX3):c.607-3_630del	rs969810391

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