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Links from MedGen

Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GHR
(S197P +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Deletion
Laron-type isolated somatotropin defect
GLikely pathogenic
GHR
(Y104C +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(D103E +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Deletion
(splice acceptor variant)
Laron-type isolated somatotropin defect
GPathogenic
GHR
Single nucleotide variant
(synonymous variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(V140F +2 more)
Single nucleotide variant
(missense variant)
Short stature due to partial GHR deficiency
+3 more
GConflicting classifications of pathogenicity
GHR
Single nucleotide variant
(intron variant)
Laron-type isolated somatotropin defect
GLikely pathogenic
GHR
(S43fs +2 more)
Deletion
(frameshift variant)
Laron-type isolated somatotropin defect
+1 more
GPathogenic
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GHR
(I250V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GHR
(Y226C +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(E220K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GHR, LOC107963950
Single nucleotide variant
(5 prime UTR variant)
Laron-type isolated somatotropin defect
GLikely benign
GHR, LOC107963950
Single nucleotide variant
(5 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GLikely benign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(G582E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GHR
(H533R +2 more)
Single nucleotide variant
(missense variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GHR
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GHR
(R35C +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GLikely benign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(Y512C +2 more)
Single nucleotide variant
(missense variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(E23G +1 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(T6A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR, LOC107963950
Single nucleotide variant
(5 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR, LOC107963950
Single nucleotide variant
(5 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR, LOC107963950
Single nucleotide variant
(5 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR, LOC107963950
Single nucleotide variant
(5 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR, LOC107963950
Single nucleotide variant
(5 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GHR
(N115T +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GLikely pathogenic
GHR
(I28V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GHR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GHR
(C492W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GLikely benign
GHR
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
GHR
Single nucleotide variant
(synonymous variant +1 more)
Laron-type isolated somatotropin defect
GPathogenic
GHR
(W122R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GHR
(W4C +1 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(W94* +2 more)
Single nucleotide variant
(nonsense)
Laron-type isolated somatotropin defect
GPathogenic
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GLikely benign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Microsatellite
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Deletion
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GLikely benign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Insertion
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(3 prime UTR variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(synonymous variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(A611V +2 more)
Single nucleotide variant
(missense variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(synonymous variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(I567F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GHR
(A547V +2 more)
Single nucleotide variant
(missense variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(P495T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
GHR
(W342L +2 more)
Single nucleotide variant
(missense variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GHR
Single nucleotide variant
(intron variant)
Laron-type isolated somatotropin defect
+1 more
GConflicting classifications of pathogenicity
GHR
(L220F +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(synonymous variant)
Laron-type isolated somatotropin defect
+1 more
GConflicting classifications of pathogenicity
GHR
(T69I +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GHR
(R61Q +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
Single nucleotide variant
(5 prime UTR variant +1 more)
Laron-type isolated somatotropin defect
GUncertain significance
GHR, LOC107963950
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
GHR
(R229H +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GHR
(P579T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
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