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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT5B
Single nucleotide variant
(intron variant)
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
+2 more
GBenign/Likely benign
STAT5B
(V700M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STAT5B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
STAT5B
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
STAT5B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
STAT5B
(R353H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
STAT5B
Single nucleotide variant
(synonymous variant)
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
+2 more
GBenign/Likely benign
STAT5B
(Q143H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
STAT5B
(L94F)
Single nucleotide variant
(missense variant)
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
STAT5B
Single nucleotide variant
(synonymous variant)
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
+2 more
GBenign/Likely benign
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