| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |
| | LOC130060786, LOC130060787 +633 more | Copy number gain | See cases | |
| | | Deletion (3 prime UTR variant) | Hyper-IgE syndrome | |
| | | Deletion (3 prime UTR variant) | Hyper-IgE syndrome | |
| | | Duplication (3 prime UTR variant) | Hyper-IgE syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Duplication (3 prime UTR variant) | Hyper-IgE syndrome | |
| | | Deletion (3 prime UTR variant) | Hyper-IgE syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Microsatellite (3 prime UTR variant) | Hyper-IgE syndrome | |
| | | Duplication (3 prime UTR variant) | Hyper-IgE syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Duplication (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | STAT3 gain of function +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | STAT3 gain of function +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | STAT3-related early-onset multisystem autoimmune disease | |
| | | Deletion (intron variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (intron variant) | STAT3 gain of function +1 more | |
| | | Deletion (intron variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | STAT3-related early-onset multisystem autoimmune disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Duplication (frameshift variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | STAT3-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | STAT3-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more | |
| | | Duplication (intron variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Duplication (intron variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Deletion (intron variant) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (intron variant) | STAT3 gain of function +1 more | |
| | | Single nucleotide variant (intron variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not specified | |