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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED13
Deletion
(splice acceptor variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
MED13
Deletion
(splice acceptor variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
(W112R +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant isolated somatotropin deficiency
GLikely pathogenic
MED13
Deletion
(splice acceptor variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
(P70L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GLikely pathogenic
GH-LCR, GH1
(M111T +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant isolated somatotropin deficiency
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
GH-LCR, GH1
(L61P +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant isolated somatotropin deficiency
+1 more
GUncertain significance
GH-LCR, GH1
(H44P)
Single nucleotide variant
(missense variant)
Autosomal dominant isolated somatotropin deficiency
GLikely pathogenic
GH-LCR, GH1
Single nucleotide variant
(5 prime UTR variant)
GH1-related disorder
+6 more
GBenign/Likely benign
GH-LCR, GH1
(T3A)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
GH-LCR, GH1
(A39V)
Single nucleotide variant
(missense variant)
GH1-related disorder
+7 more
GBenign/Likely benign
GH1, GH-LCR
(F51Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
GH-LCR, GH1
(E58K)
Single nucleotide variant
(missense variant +1 more)
GH1-related disorder
GLikely pathogenic
GH-LCR, GH1
(E58A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
(R169H +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GH-LCR, GH1
Deletion
(intron variant)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(intron variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
(E59G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(intron variant)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
Deletion
(intron variant)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(intron variant)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(intron variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(intron variant +1 more)
Short stature due to growth hormone qualitative anomaly
+4 more
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(intron variant)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
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