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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GHR
(S16R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GHR
(I28V +1 more)
Single nucleotide variant
(missense variant +1 more)
Laron-type isolated somatotropin defect
+2 more
GConflicting classifications of pathogenicity
GHR
(K51N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GHR
(N46I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GHR
(R35H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GHR
(V72I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GHR
(I101L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GHR
(G134D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GHR
(P129S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GHR
(N158S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GHR
(G193A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GHR
(F243L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GHR
(I325T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GHR
(E342K +2 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to partial GHR deficiency
+1 more
GUncertain significance
GHR
(D363G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GHR
(R393H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GHR
(A428E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GHR
(C403R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GHR
(V477M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GHR
(G482C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GHR
(G510E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GHR
(M537T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
GHR
(K642E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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