Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs772390221
rs772390221
POU1F1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs104893755
rs104893755
POU1F1
0.040 GeneticVariation BEFREE To test the role of wtPIT-1 (PITWT) or PIT-1 (R271W) (PIT271) in somatolactotroph cells, we established, using inducible lentiviral vectors, sublines of GH4C1 somatotroph cells that allow the blockade of the expression of endogenous PIT-1 and/or the expression of PITWT or PIT271, a dominant negative mutant of PIT-1 responsible for Combined Pituitary Hormone Deficiency in patients. 25822178

2015
dbSNP: rs104893755
rs104893755
POU1F1
0.040 GeneticVariation BEFREE We identified a C to T transition in exon 6 of POUF-1, resulting in a known missense mutation (R271W) in a mother and daughter from one family with CPHD. 15670191

2005
dbSNP: rs104893755
rs104893755
POU1F1
0.040 GeneticVariation BEFREE Taken together with the evidence that phenotypically normal cases have been reported with this mutation, our results deny the relationship between R271W and combined pituitary hormone deficiency. 12773133

2003
dbSNP: rs104893755
rs104893755
POU1F1
0.040 GeneticVariation BEFREE This case is the first demonstration of CPHD due to compound heterozygous Pit-1 point mutations, as most reported cases of the CPHD phenotype involve either the dominant negative R271W allele or homozygosity for recessive Pit-1 mutations. 9485179

1998
dbSNP: rs28936416
rs28936416
HESX1
0.020 GeneticVariation BEFREE A previously reported patient homozygous for p.I26T had evolving CPHD and EPP. 27000987

2016
dbSNP: rs766234350
rs766234350
HESX1
0.020 GeneticVariation BEFREE A patient homozygous for p.R160H was previously reported in a patient with CPHD</span>, EPP, APH. 27000987

2016
dbSNP: rs766234350
rs766234350
HESX1
0.020 GeneticVariation BEFREE These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects. 22145475

2011
dbSNP: rs121917839
rs121917839
PROP1
0.020 GeneticVariation BEFREE The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. 17526949

2006
dbSNP: rs28936416
rs28936416
HESX1
0.020 GeneticVariation BEFREE We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents. 14561704

2003
dbSNP: rs121917839
rs121917839
PROP1
0.020 GeneticVariation BEFREE A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. 12153609

2002
dbSNP: rs768165720
rs768165720
HESX1
0.010 GeneticVariation BEFREE A mutation analysis identified homozygous p.R109Q mutations in HESX1 in a patient with CPHD. 28332357

2017
dbSNP: rs1237859972
rs1237859972
POMC
0.010 GeneticVariation BEFREE A patient homozygous for p.R160H was previously reported in a patient with CPHD</span>, EPP, APH. 27000987

2016
dbSNP: rs770886420
rs770886420
HESX1
0.010 GeneticVariation BEFREE Finally, we identified compound heterozygous mutations in HESX1, p.[R159W];[R160H], in a patient with PA and CPHD. 27000987

2016
dbSNP: rs121917843
rs121917843
PROP1
0.010 GeneticVariation BEFREE The p.R73C PROP1 mutation was the most frequent mutation in CPHD; this should be the first one to screen in this population. 25557026

2015
dbSNP: rs142400016
rs142400016
LHX3
0.010 GeneticVariation BEFREE The p.R73C PROP1 mutation was the most frequent mutation in CPHD; this should be the first one to screen in this population. 25557026

2015
dbSNP: rs1465556147
rs1465556147
HESX1
0.010 GeneticVariation BEFREE A novel heterozygous p.Glu102Gly mutation in the HESX1 gene and a novel homozygous p.Arg121Thr mutation in the PROP1 gene were detected in 2 pedigrees with CPHD. 26111865

2015
dbSNP: rs779490520
rs779490520
LHX4
0.010 GeneticVariation BEFREE We identified the first novel homozygous missense variant (c.377C>T, p.T126M) in two deceased male patients of Pakistani origin with severe panhypopituitarism associated with anterior pituitary aplasia and posterior pituitary ectopia. 25871839

2015
dbSNP: rs1292127844
rs1292127844
HESX1
0.010 GeneticVariation BEFREE Among 92 CPHD patients, we identified a novel heterozygous missense mutation c.401C>G (p.Pro134Arg) in a patient with CPHD, pituitary malformation, and an underdeveloped left optic nerve. 22715480

2012
dbSNP: rs199761861
rs199761861
OTX2
0.010 GeneticVariation BEFREE Among 92 CPHD patients, we identified a novel heterozygous missense mutation c.401C>G (p.Pro134Arg) in a patient with CPHD, pituitary malformation, and an underdeveloped left optic nerve. 22715480

2012
dbSNP: rs780359925
rs780359925
POU1F1
0.010 GeneticVariation BEFREE Combined pituitary hormone deficiency in this patient is caused by loss of POU1F1 function by two novel mechanisms, namely aberrant splicing (IVS1+3nt (A>G) and protein instability (R265W). 22010633

2012
dbSNP: rs777331392
rs777331392
LHX3
0.010 GeneticVariation BEFREE These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects. 22145475

2011
dbSNP: rs1318234609
rs1318234609
PDLIM5
0.010 GeneticVariation BEFREE A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency. 19856252

2010
dbSNP: rs201781653
rs201781653
BRD2
0.010 GeneticVariation BEFREE A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. 17527005

2007