| | | Copy number gain | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +2 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Duplication (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | STAT5B-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |