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Links from MedGen

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HESX1
(S20C)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GUncertain significance
POU1F1
Single nucleotide variant
(synonymous variant +1 more)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
Single nucleotide variant
(synonymous variant +1 more)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(L52W)
Single nucleotide variant
(missense variant +1 more)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(I51S)
Single nucleotide variant
(missense variant +1 more)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(S50A)
Single nucleotide variant
(missense variant +1 more)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(I221T +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GLikely pathogenic
POU1F1
(A71V +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GLikely pathogenic
POU1F1
(R217* +1 more)
Single nucleotide variant
(nonsense)
Pituitary hormone deficiency, combined, 1
+1 more
GPathogenic
POU1F1
Single nucleotide variant
(synonymous variant)
Pituitary hormone deficiency, combined, 1
+2 more
GConflicting classifications of pathogenicity
POU1F1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POU1F1
Single nucleotide variant
(synonymous variant)
Pituitary hormone deficiency, combined, 1
+1 more
GConflicting classifications of pathogenicity
POU1F1
Single nucleotide variant
(synonymous variant)
Pituitary hormone deficiency, combined, 1
+1 more
GConflicting classifications of pathogenicity
POU1F1
(P14A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
POU1F1
(Q167P +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GLikely pathogenic
POU1F1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HESX1
(W105G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
HESX1
(L103*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
HESX1
(E81fs)
Deletion
(frameshift variant)
Septo-optic dysplasia sequence
+1 more
GPathogenic
HESX1
(S67N)
Single nucleotide variant
(missense variant)
Growth hormone deficiency with pituitary anomalies
+1 more
GUncertain significance
LHX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LHX3
(Q94L +2 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GUncertain significance
ACBD6, LHX4
+1 more
(E247V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+1 more
GUncertain significance
LHX4
(C120Y)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GUncertain significance
POU1F1
(S53A)
Single nucleotide variant
(missense variant +1 more)
Pituitary hormone deficiency, combined, 1
+1 more
GConflicting classifications of pathogenicity
POU1F1
Single nucleotide variant
(5 prime UTR variant)
Pituitary hormone deficiency, combined, 1
GUncertain significance
POU1F1
Single nucleotide variant
(5 prime UTR variant)
Pituitary hormone deficiency, combined, 1
GUncertain significance
POU1F1
(S30R)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
+1 more
GUncertain significance
POU1F1
(M124V +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
+4 more
GConflicting classifications of pathogenicity
POU1F1
Single nucleotide variant
(synonymous variant)
Pituitary hormone deficiency, combined, 1
+1 more
GConflicting classifications of pathogenicity
POU1F1
Single nucleotide variant
(synonymous variant)
Pituitary hormone deficiency, combined, 1
+2 more
GConflicting classifications of pathogenicity
POU1F1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POU1F1
(I223V +1 more)
Single nucleotide variant
(missense variant)
Combined Pituitary Hormone Deficiency, Recessive
+1 more
GUncertain significance
CHMP2B, POU1F1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
CHMP2B, POU1F1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
CHMP2B, POU1F1
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia
+3 more
GBenign/Likely benign
POU1F1
Single nucleotide variant
(3 prime UTR variant)
Pituitary hormone deficiency, combined, 1
GUncertain significance
CHMP2B, POU1F1
Single nucleotide variant
(no sequence alteration)
Frontotemporal dementia
+2 more
GBenign
POU1F1
Single nucleotide variant
(3 prime UTR variant)
Combined Pituitary Hormone Deficiency, Recessive
+1 more
GUncertain significance
HESX1
(V129I)
Single nucleotide variant
(missense variant)
Septo-optic dysplasia sequence
+3 more
GConflicting classifications of pathogenicity
POU1F1
Single nucleotide variant
(intron variant)
Pituitary hormone deficiency, combined, 1
GLikely pathogenic
POU1F1
(R239fs +1 more)
Deletion
(frameshift variant)
Pituitary hormone deficiency, combined, 1
GLikely pathogenic
CHMP2B, POU1F1
Single nucleotide variant
(intron variant)
Combined Pituitary Hormone Deficiency, Recessive
+4 more
GBenign/Likely benign
POU1F1
Single nucleotide variant
Pituitary hormone deficiency, combined, 1
GLikely pathogenic
POU1F1
Single nucleotide variant
(splice donor variant)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(S179R +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(R259fs +1 more)
Duplication
(frameshift variant)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(R172Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
POU1F1
(E230K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
POU1F1
(K145* +1 more)
Single nucleotide variant
(nonsense)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(W193R +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(E276fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
POU1F1
(P239S +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(F135C +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(E250* +1 more)
Single nucleotide variant
(nonsense)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(R143Q +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(P24L)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GPathogenic
POU1F1
(A158P +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
POU1F1
(R271W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU1F1
(R172* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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