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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HESX1
(T181A)
Single nucleotide variant
(missense variant)
Growth hormone deficiency with pituitary anomalies
+3 more
GConflicting classifications of pathogenicity
HESX1
Single nucleotide variant
(synonymous variant)
Septo-optic dysplasia sequence
+3 more
GConflicting classifications of pathogenicity
HESX1
(Q171fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HESX1
(S170L)
Single nucleotide variant
(missense variant)
Growth hormone deficiency with pituitary anomalies
+2 more
GUncertain significance
HESX1
(V129I)
Single nucleotide variant
(missense variant)
Septo-optic dysplasia sequence
+3 more
GConflicting classifications of pathogenicity
HESX1
(N125S)
Single nucleotide variant
(missense variant)
Septo-optic dysplasia sequence
+4 more
GBenign/Likely benign
HESX1
(R109Q)
Single nucleotide variant
(missense variant)
Septo-optic dysplasia sequence
+2 more
GUncertain significance
HESX1
(S67T)
Single nucleotide variant
(missense variant)
Growth hormone deficiency with pituitary anomalies
+2 more
GUncertain significance
HESX1
Single nucleotide variant
(synonymous variant)
Growth hormone deficiency with pituitary anomalies
+2 more
GBenign/Likely benign
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