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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GHR
(V140F +2 more)
Single nucleotide variant
(missense variant)
Short stature due to partial GHR deficiency
+3 more
GConflicting classifications of pathogenicity
GHR
(M537T +2 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to partial GHR deficiency
+2 more
GUncertain significance
GHR, LOC107963950
(G4S)
Single nucleotide variant
(missense variant +2 more)
Short stature due to partial GHR deficiency
GUncertain significance
GHR
(E342K +2 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to partial GHR deficiency
+1 more
GUncertain significance
GHSR
Deletion
(genic downstream transcript variant)
Short stature due to partial GHR deficiency
GBenign
GHSR
Deletion
(3 prime UTR variant)
Short stature due to partial GHR deficiency
GBenign
GHSR
Single nucleotide variant
(3 prime UTR variant)
Short stature due to partial GHR deficiency
GUncertain significance
GHSR
Deletion
(3 prime UTR variant)
Short stature due to partial GHR deficiency
GLikely benign
GHR
(R229H +2 more)
Single nucleotide variant
(missense variant)
Short stature due to partial GHR deficiency
+3 more
GConflicting classifications of pathogenicity
GHR
(W187R +2 more)
Single nucleotide variant
(missense variant)
Short stature due to partial GHR deficiency
GPathogenic
GHR
(G166E +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GHR
(Y240H +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
+9 more
GConflicting classifications of pathogenicity
GHR
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
GHR
(I544L +2 more)
Single nucleotide variant
(missense variant +1 more)
Laron-type isolated somatotropin defect
+3 more
GBenign
GHR
(V162I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GHR
Single nucleotide variant
(splice acceptor variant +1 more)
Short stature due to partial GHR deficiency
GPathogenic
GHR
(E242D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GHR
(R179C +2 more)
Single nucleotide variant
(missense variant)
Short stature due to partial GHR deficiency
+6 more
GConflicting classifications of pathogenicity
GHR
(E62K +2 more)
Single nucleotide variant
(missense variant)
Growth hormone insensitivity syndrome
GLikely pathogenic
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