Gene | Chr | Position | RefSeq | VarSeq | RefSeeq | VarType | Pathogenic | Disease | VarInfo |
STAT3 | chr17 | 40465418 | AAG | A | Deletion | Uncertain_significance | Hyper-IgE_syndrome | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465419 | AG | A | Deletion | Uncertain_significance | Hyper-IgE_syndrome | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465422 | C | CA | Duplication | Uncertain_significance | Hyper-IgE_syndrome | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465508 | C | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465616 | T | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465619 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465761 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465793 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465832 | T | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465872 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465910 | T | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465913 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40465913 | G | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466088 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466090 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466092 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466118 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466246 | C | T | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466266 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466348 | G | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466380 | C | G | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466438 | T | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466447 | T | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466493 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466497 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466567 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466638 | C | T | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466681 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466752 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466868 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466868 | TC | T | Deletion | Uncertain_significance | Hyper-IgE_syndrome | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40466869 | C | CT | Duplication | Uncertain_significance | Hyper-IgE_syndrome | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467033 | C | T | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467094 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467117 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467155 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467156 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467169 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467179 | A | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467181 | T | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467361 | C | T | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467409 | GAAC | G | Microsatellite | Likely_benign | Hyper-IgE_syndrome | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467498 | A | AC | Duplication | Likely_benign | Hyper-IgE_syndrome | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467503 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467552 | T | G | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467598 | A | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467732 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467773 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467775 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467778 | A | G | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467780 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467781 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467788 | G | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified|not_provided | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467795 | A | G | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467805 | A | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40467999 | G | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40468489 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40468776 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40468816 | C | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40468836 | C | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant | SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40468841 | A | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant | SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant |
STAT3 | chr17 | 40468848 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant,SO:0001819|synonymous_variant | SO:0001583|missense_variant,SO:0001819|synonymous_variant |
STAT3 | chr17 | 40468917 | G | A | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40468923 | T | TA | Duplication | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40469126 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40469180 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40469199 | C | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001575|splice_donor_variant,SO:0001627|intron_variant | SO:0001575|splice_donor_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469200 | G | A | single_nucleotide_variant | Pathogenic/Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Inherited_Immunodeficiency_Diseases|Inborn_genetic_diseases|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469203 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469206 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469210 | A | G | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469212 | A | C | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469213 | T | C | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469219 | T | C | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469225 | T | C | single_nucleotide_variant | Likely_pathogenic | Inherited_Immunodeficiency_Diseases | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40469227 | A | G | single_nucleotide_variant | Pathogenic/Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469231 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40469237 | C | T | single_nucleotide_variant | Pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469240 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40469321 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40474310 | A | T | single_nucleotide_variant | Benign/Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40474319 | A | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474337 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40474351 | C | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474352 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40474386 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474408 | T | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474413 | G | A | single_nucleotide_variant | Pathogenic/Likely_pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474419 | T | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474420 | C | A | single_nucleotide_variant | Uncertain_significance | not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474422 | A | G | single_nucleotide_variant | Pathogenic/Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Hyper-IgE_syndrome|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474425 | A | T | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474427 | C | A | single_nucleotide_variant | Likely_pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474427 | C | G | single_nucleotide_variant | Pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474428 | T | C | single_nucleotide_variant | Likely_pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474429 | T | TATA | Duplication | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001821|inframe_insertion | SO:0001821|inframe_insertion |
STAT3 | chr17 | 40474430 | ATA | CTG | Indel | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474431 | T | C | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474438 | T | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474458 | A | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474461 | T | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474463 | G | C | single_nucleotide_variant | Pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474467 | AGCT | A | Microsatellite | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001822|inframe_deletion | SO:0001822|inframe_deletion |
STAT3 | chr17 | 40474477 | T | C | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474481 | GT | AA | Indel | Uncertain_significance | not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474482 | T | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474484 | T | C | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40474492 | C | T | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Hyper-IgE_syndrome|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474495 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474496 | C | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40474817 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40474864 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40474880 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40475013 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40475015 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40475016 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40475032 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40475042 | C | A | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475047 | G | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475047 | G | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475051 | G | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475051 | G | C | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475056 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40475057 | C | T | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475058 | C | G | single_nucleotide_variant | Uncertain_significance | not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475063 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475064 | C | G | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475067 | T | C | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475070 | T | C | single_nucleotide_variant | Pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475070 | T | G | single_nucleotide_variant | Uncertain_significance | not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475079 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475083 | T | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475108 | T | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475130 | C | T | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475134 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40475138 | T | A | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475153 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475173 | G | C | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40475282 | C | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40475283 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40475327 | T | C | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475346 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40475383 | G | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40475608 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40475650 | G | GA | Duplication | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Hyper-IgE_syndrome|STAT3_gain_of_function|not_specified|not_provided | | |
STAT3 | chr17 | 40475650 | G | GC | Insertion | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40475713 | AAC | A | Microsatellite | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40476538 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40476567 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40476667 | C | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40476718 | G | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40476724 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40476767 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40476789 | A | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40476793 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40476810 | C | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40476813 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40476837 | T | C | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40476862 | A | T | single_nucleotide_variant | Uncertain_significance | Adenoid_cystic_carcinoma | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40476946 | T | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40477008 | C | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40477017 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40477031 | T | C | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40477048 | T | C | single_nucleotide_variant | Pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40477048 | T | G | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40477052 | A | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40477055 | TCAC | T | Microsatellite | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_provided | SO:0001822|inframe_deletion | SO:0001822|inframe_deletion |
STAT3 | chr17 | 40477064 | C | G | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified|none_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40477065 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40477068 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40477083 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40477083 | CGGAGGGAGTGG | C | Deletion | Uncertain_significance | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40477088 | G | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40477090 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40477099 | T | C | single_nucleotide_variant | Uncertain_significance | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40477987 | A | AT | Duplication | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40477987 | ATTTT | A | Deletion | Benign/Likely_benign | not_specified|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40478126 | G | C | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40478138 | A | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40478151 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40478170 | G | A | single_nucleotide_variant | Benign/Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40478171 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40478188 | G | T | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40478189 | T | A | single_nucleotide_variant | Likely_pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40478196 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40478227 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40478238 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40478310 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40478379 | A | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40478470 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481170 | A | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481394 | AC | A | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481417 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481441 | C | T | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481445 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481446 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40481448 | C | T | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481449 | A | C | single_nucleotide_variant | Pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481454 | C | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481460 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481466 | C | T | single_nucleotide_variant | Pathogenic/Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481468 | C | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481472 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40481475 | T | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Hyper-IgE_syndrome|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481475 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481478 | G | GT | Duplication | Benign/Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481482 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481529 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481552 | G | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481553 | G | A | single_nucleotide_variant | Uncertain_significance | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40481575 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40481575 | G | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481576 | T | C | single_nucleotide_variant | Uncertain_significance | not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481577 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481602 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40481606 | T | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481623 | C | T | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481628 | C | A | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481630 | T | C | single_nucleotide_variant | Pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481639 | G | A | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481640 | T | C | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481660 | C | A | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481660 | C | T | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Inherited_Immunodeficiency_Diseases|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481661 | G | A | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481662 | G | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40481667 | T | G | single_nucleotide_variant | not_provided | not_provided | SO:0001574|splice_acceptor_variant | SO:0001574|splice_acceptor_variant |
STAT3 | chr17 | 40481764 | C | A | single_nucleotide_variant | Pathogenic | not_provided | SO:0001575|splice_donor_variant | SO:0001575|splice_donor_variant |
STAT3 | chr17 | 40481775 | C | T | single_nucleotide_variant | Uncertain_significance | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481781 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481782 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40481784 | C | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40481788 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40481791 | GTC | G | Microsatellite | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
STAT3 | chr17 | 40481791 | GTCTC | G | Deletion | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001574|splice_acceptor_variant | SO:0001574|splice_acceptor_variant |
STAT3 | chr17 | 40481795 | C | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001574|splice_acceptor_variant,SO:0001583|missense_variant | SO:0001574|splice_acceptor_variant,SO:0001583|missense_variant |
STAT3 | chr17 | 40481800 | A | G | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40481802 | AAC | A | Microsatellite | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001589|frameshift_variant,SO:0001627|intron_variant | SO:0001589|frameshift_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40483403 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40483466 | C | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40483477 | T | C | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40483498 | G | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_syndrome | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40483515 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40483533 | G | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40483535 | A | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40483540 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40483542 | C | A | single_nucleotide_variant | Pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40483549 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40485239 | G | T | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40485691 | C | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485708 | C | G | single_nucleotide_variant | Pathogenic | Autoimmune_disease,_multisystem,_infantile-onset,_1 | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485718 | G | A | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485729 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40485737 | G | A | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485748 | A | C | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485750 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40485754 | A | C | single_nucleotide_variant | Uncertain_significance | Inherited_Immunodeficiency_Diseases | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485754 | A | T | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485767 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485789 | GA | G | Deletion | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40485960 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485986 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40485990 | G | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485991 | A | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40485995 | T | A | single_nucleotide_variant | Uncertain_significance | Inherited_Immunodeficiency_Diseases | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40486032 | C | T | single_nucleotide_variant | Likely_pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40486033 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40486040 | A | C | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40486053 | G | A | single_nucleotide_variant | Uncertain_significance | Inherited_Immunodeficiency_Diseases | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40486061 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40486070 | G | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40486318 | A | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489268 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489297 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489465 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40489471 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40489474 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40489488 | G | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489537 | TCGTC | T | Deletion | Pathogenic | not_provided | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
STAT3 | chr17 | 40489539 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489542 | C | G | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489560 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489569 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489593 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489599 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489611 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489622 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489741 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489766 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489799 | C | G | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489799 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489800 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40489808 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40489821 | T | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40489845 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40489874 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40489876 | C | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001574|splice_acceptor_variant | SO:0001574|splice_acceptor_variant |
STAT3 | chr17 | 40489879 | C | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489879 | C | T | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489880 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489892 | AACTCCTTGACCTGAGGGAAT | A | Microsatellite | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489892 | AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAAT | A | Microsatellite | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489892 | AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAAT | A | Deletion | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489899 | TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTG | T | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489919 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489939 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40489959 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40490499 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40490519 | T | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40490519 | TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTG | T | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40490539 | T | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40490559 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40490762 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40490776 | T | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40490786 | G | A | single_nucleotide_variant | Benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40490801 | C | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40490824 | C | T | single_nucleotide_variant | Likely_pathogenic | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40490859 | GAAGTA | G | Deletion | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40491131 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40491135 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40491273 | C | CA | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40491273 | CA | C | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40491329 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40491335 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491340 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40491346 | G | A | single_nucleotide_variant | Pathogenic | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491374 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491386 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491394 | C | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491395 | G | A | single_nucleotide_variant | Benign/Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491415 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491423 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491425 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40491427 | G | C | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40491431 | C | G | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40491432 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40491680 | C | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497421 | C | CT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497567 | C | G | single_nucleotide_variant | Uncertain_significance | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497581 | G | A | single_nucleotide_variant | Uncertain_significance | not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40497583 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40497584 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40497622 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40497637 | A | G | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40497638 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40497640 | C | G | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40497642 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40497646 | A | G | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40497649 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
STAT3 | chr17 | 40497668 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40497678 | A | G | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497683 | T | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497803 | G | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497828 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497835 | C | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497839 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497840 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497893 | C | CT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497893 | C | CTT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40497893 | C | CTTT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40498273 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40498324 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40498442 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40498565 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40498610 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001587|nonsense | SO:0001587|nonsense |
STAT3 | chr17 | 40498611 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40498613 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40498635 | C | T | single_nucleotide_variant | Benign/Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40498665 | G | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40498722 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40498735 | G | C | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40498744 | A | G | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40498944 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40498981 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40500265 | C | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40500343 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40500387 | G | A | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001627|intron_variant | SO:0001627|intron_variant |
STAT3 | chr17 | 40500432 | C | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40500453 | T | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40500465 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40500484 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40500497 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
STAT3 | chr17 | 40500508 | C | T | single_nucleotide_variant | Likely_benign | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
STAT3 | chr17 | 40540328 | G | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
STAT3 | chr17 | 40540342 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
STAT3 | chr17 | 40540412 | C | T | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
STAT3 | chr17 | 40540413 | G | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_provided | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
STAT3 | chr17 | 40540430 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
STAT3 | chr17 | 40540435 | T | C | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
STAT3 | chr17 | 40540468 | C | G | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_provided | SO:0002153|genic_upstream_transcript_variant | SO:0002153|genic_upstream_transcript_variant |
STAT3 | chr17 | 40540484 | C | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0002153|genic_upstream_transcript_variant | SO:0002153|genic_upstream_transcript_variant |
STAT3 | chr17 | 40540499 | G | A | single_nucleotide_variant | Uncertain_significance | Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant | SO:0002153|genic_upstream_transcript_variant | SO:0002153|genic_upstream_transcript_variant |