STAT5B (P51692) variants and mutations
STAT5B (also known as P51692) is a human protein-coding gene encoding a signal transducer and activator of transcription 5B protein. It carries signals from growth hormone and multiple cytokines into transcriptional programs controlling growth, immune regulation, and lymphocyte survival. Loss-of-function variants cause growth-hormone insensitivity with immune dysregulation, whereas activating somatic variants can drive hematologic malignancy. This analysis covers 841 STAT5B variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes growth hormone insensitivity with immune dysregulation 1, autosomal recessive, growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dom, and cancer. Example STAT5B variants include M1?, A2T, and V3A.
Variant analysis overview
- Gene: STAT5B
- Protein: P51692
- UniProt accession: P51692
- Organism: Homo sapiens
- Variants analyzed: 841
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 646 unspecified-consequence records; 96 synonymous variants; 84 missense variants; 9 frameshift variants; 3 splice-region variants; 1 in-frame insertions; 1 stop-gained variants; 1 substitution
- Prediction scores: 621 variants have prediction scores (74% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: growth hormone insensitivity with immune dysregulation 1, autosomal recessive, growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dom, cancer, severe combined immunodeficiency, combined immunodeficiency, T-B- severe combined immunodeficiency, T-B+ severe combined immunodeficiency, acute myeloid leukemia, asthma, Chronic Eosinophilic Leukemia, Not Otherwise Specified, skin basal cell carcinoma, Merkel cell skin cancer.
Protein structure and variant hotspots
- Protein features: 1 domains; 5 post-translational modification sites.
- Structural context: 119 variants have structural context.
- PTM context: 4 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable STAT5B variants
Examples include M1?, A2T, V3A, V3G, V3M, I5L, Q6*, A7V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; high impact.
- A2T (p.Ala2Thr), Ensembl rs113461014
- V3A (p.Val3Ala), TOPMed rs930684230, gnomAD rs930684230, REVEL 0.09, CADD 20.60
- V3G (p.Val3Gly), TOPMed rs930684230, gnomAD rs930684230
- V3M (p.Val3Met), rs144024535, ClinGen CA8574378, ClinVar RCV001344589, ESP rs144024535, AlphaMissense 0.09, MetaLR 0.11, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- I5L (p.Ile5Leu), rs376041480, ClinGen CA8574377, ClinVar RCV001202890, ClinVar RCV004597968, REVEL 0.18, CADD 24.50, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; n
- Q6* (p.Gln6Ter), rs2508803926, ClinGen CA399594316, ClinVar RCV002830220, Pathogenic
- A7V (p.Ala7Val), rs2508803909, ClinGen CA399594289, ClinVar RCV003613825, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Q9L (p.Gln9Leu), gnomAD rs1157720602, REVEL 0.48, CADD 28.90
- E13D (p.Glu13Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H16P (p.His16Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- H16Q (p.His16Gln), rs1164527069, ClinGen CA399594046, ClinVar RCV003614907, REVEL 0.09, CADD 15.70, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- H16R (p.His16Arg), TOPMed rs2080321984, gnomAD rs2080321984, REVEL 0.10, CADD 13.20
- H16Y (p.His16Tyr), rs2508803767, ClinGen CA399594069, ClinVar RCV003504672, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- M18L (p.Met18Leu), gnomAD rs1197447612, REVEL 0.19, CADD 22.60
- A20E (p.Ala20Glu), rs935891734, ClinGen CA399593947, ClinVar RCV003822328, TOPMed rs935891734, REVEL 0.13, CADD 19.30, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- A20P (p.Ala20Pro), TOPMed rs1187221247, gnomAD rs1187221247, REVEL 0.18, CADD 24.00
- A20T (p.Ala20Thr), TOPMed rs1187221247, gnomAD rs1187221247
- A20V (p.Ala20Val), rs935891734, ClinGen CA290748980, ClinVar RCV000996546, ClinVar RCV003505152, REVEL 0.10, CADD 18.30, Uncertain significance, not provided; Growth hormone insensitivity with immune dysregulation 1, autosoma
- G23D (p.Gly23Asp), rs2144296821, ClinGen CA399593865, ClinVar RCV001969283, Ensembl rs2144296821, AlphaMissense 0.90, MetaLR 0.16, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- H25Q (p.His25Gln), TOPMed rs1463676724, gnomAD rs1463676724, REVEL 0.30, CADD 23.20
- P27H (p.Pro27His), Ensembl rs868360255
- P27S (p.Pro27Ser), NCI-TCGA Cosmic COSV9951, Variant assessed as somatic; moderate impact.
- I28T (p.Ile28Thr), TOPMed rs2080321592
- I28V (p.Ile28Val), gnomAD rs1224349994
- V30M (p.Val30Met), Ensembl rs2144296739, REVEL 0.48, CADD 26.00
- R31C (p.Arg31Cys), rs2508803545, ClinGen CA2697559901, ClinVar RCV003506657, Pathogenic
- R31W (p.Arg31Trp), rs2080321538, ClinGen CA399593688, NCI-TCGA Cosmic COSV5318, ClinVar RCV001253111, REVEL 0.89, CADD 33.00, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Y33C (p.Tyr33Cys), rs2508803496, ClinGen CA399593633, ClinVar RCV003043917, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- L34S (p.Leu34Ser), NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; moderate impact.
- Q36P (p.Gln36Pro), NCI-TCGA Cosmic COSV9951, Variant assessed as somatic; moderate impact.
- I38L (p.Ile38Leu), rs2508803468, ClinGen CA399593506, ClinVar RCV003613945, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- E39Q (p.Glu39Gln), NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; moderate impact.
- S40N (p.Ser40Asn), gnomAD rs1281205149, REVEL 0.07, CADD 22.50
- Q41* (p.Gln41Ter), rs767959957, ClinGen CA8574374, ClinVar RCV001387244, ExAC rs767959957, CADD 39.00, Pathogenic
- A42P (p.Ala42Pro), Ensembl rs1051056509
- V46I (p.Val46Ile), Ensembl rs2144282293, REVEL 0.09, CADD 17.00
- D47N (p.Asp47Asn), ExAC rs755543502, gnomAD rs755543502, REVEL 0.33, CADD 27.20
- D47V (p.Asp47Val), ExAC rs750113759, gnomAD rs750113759, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- D49G (p.Asp49Gly), Ensembl rs1598311254
- P51T (p.Pro51Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q52L (p.Gln52Leu), rs139130762, ClinGen CA8574356, ClinVar RCV003615423, ESP rs139130762, REVEL 0.28, CADD 24.00, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- E53Q (p.Glu53Gln), ExAC rs762274331, gnomAD rs762274331, REVEL 0.16, CADD 22.70
- I55M (p.Ile55Met), gnomAD rs1176137138, REVEL 0.09, CADD 17.20
- T58I (p.Thr58Ile), rs763601763, ClinGen CA8574352, ClinVar RCV003413234, ClinVar RCV005100041, REVEL 0.15, CADD 22.00, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; n
- T58P (p.Thr58Pro), NCI-TCGA Cosmic COSV9951, Variant assessed as somatic; moderate impact.
- Q59H (p.Gln59His), rs1049785980, ClinGen CA399591944, ClinVar RCV002886786, Uncertain significance, Inborn genetic diseases
- L60F (p.Leu60Phe), rs1187306164, ClinGen CA399591941, ClinVar RCV001205794, TOPMed rs1187306164, REVEL 0.32, CADD 23.90, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- G63S (p.Gly63Ser), ExAC rs759481948, TOPMed rs759481948, gnomAD rs759481948, REVEL 0.12, CADD 20.90
- V65G (p.Val65Gly), Ensembl rs1598311185
- Q66* (p.Gln66Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Q66R (p.Gln66Arg), rs750520285, ClinGen CA290746924, ClinVar RCV002026626, gnomAD rs750520285, REVEL 0.13, CADD 23.90, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- E67K (p.Glu67Lys), NCI-TCGA TCGA novel, REVEL 0.42, CADD 26.60, Variant assessed as somatic; moderate impact.
- K70E (p.Lys70Glu), gnomAD rs1272089211, REVEL 0.09, CADD 22.40
- K71E (p.Lys71Glu), Ensembl rs1274658503, REVEL 0.46, CADD 27.80
- A72T (p.Ala72Thr), gnomAD rs1214969218, REVEL 0.32, CADD 25.80
- A72V (p.Ala72Val), TOPMed rs2080284446
- V76G (p.Val76Gly), Ensembl rs1598311149, REVEL 0.27, CADD 23.00
- E78G (p.Glu78Gly), Ensembl rs1598311137
- E78K (p.Glu78Lys), NCI-TCGA Cosmic COSV5318, REVEL 0.23, CADD 26.80, Variant assessed as somatic; high impact.
- D79N (p.Asp79Asn), NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; moderate impact.
- G80R (p.Gly80Arg), ExAC rs747225467, gnomAD rs747225467, REVEL 0.33, CADD 24.10
- F81L (p.Phe81Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F81V (p.Phe81Val), Ensembl rs1598311125
- L83V (p.Leu83Val), 1000Genomes rs146176992, ESP rs146176992, ExAC rs146176992, TOPMed rs146176992, REVEL 0.19, CADD 21.70, Benign
- K84N (p.Lys84Asn), NCI-TCGA TCGA novel, REVEL 0.27, CADD 23.90, Variant assessed as somatic; moderate impact.
- G88E (p.Gly88Glu), gnomAD rs1355612617, REVEL 0.25, CADD 22.40
- H89Q (p.His89Gln), Ensembl rs2144281839
- A91S (p.Ala91Ser), NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; moderate impact.
- T92S (p.Thr92Ser), TOPMed rs2080283894, REVEL 0.06, CADD 18.10
- Q93* (p.Gln93Ter), gnomAD rs1354487365, CADD 37.00
- Q93R (p.Gln93Arg), ExAC rs749258998, gnomAD rs749258998, REVEL 0.21, CADD 22.70
- L94F (p.Leu94Phe), rs199645527, ClinGen CA8574341, ClinVar RCV000733294, ClinVar RCV001401938, REVEL 0.13, CADD 18.90, Conflicting interpretations, not provided; Growth hormone insensitivity with immune dysregulation 1, autosoma
- N96H (p.Asn96His), TOPMed rs911203694, gnomAD rs911203694, REVEL 0.14, CADD 23.90, Uncertain significance, STAT5B-related disorder
- T97M (p.Thr97Met), rs766427008, ClinGen CA8574328, ClinVar RCV002944131, ExAC rs766427008, REVEL 0.18, CADD 24.10, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- R100C (p.Arg100Cys), rs199894785, ClinGen CA8574326, ClinVar RCV001267796, ESP rs199894785, REVEL 0.29, CADD 32.00, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- R100H (p.Arg100His), TOPMed rs1475711023, gnomAD rs1475711023, REVEL 0.05, CADD 22.60
- C101* (p.Cys101Ter), rs1156986606, ClinGen CA399590972, ClinVar RCV003614753, gnomAD rs1156986606, CADD 35.00, Pathogenic
- M103T (p.Met103Thr), Ensembl rs2080259974, REVEL 0.23, CADD 24.00, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- E104K (p.Glu104Lys), Ensembl rs2080259945
- V106I (p.Val106Ile), rs748978416, ExAC rs748978416, gnomAD rs748978416, REVEL 0.18, CADD 23.50, Variant assessed as somatic; moderate impact.
- R107C (p.Arg107Cys), rs1177773526, ClinGen CA399590888, NCI-TCGA Cosmic COSV5318, ClinVar RCV000642179, REVEL 0.49, CADD 31.00, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- R107H (p.Arg107His), TOPMed rs892570954, REVEL 0.26, CADD 27.50, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- C108G (p.Cys108Gly), TOPMed rs2080259763, Uncertain significance
- C108S (p.Cys108Ser), rs2080259763, ClinGen CA399590879, ClinVar RCV002211399, TOPMed rs2080259763, AlphaMissense 0.57, MetaLR 0.18, Uncertain significance, not provided
- R110C (p.Arg110Cys), rs775502922, ClinGen CA8574323, NCI-TCGA Cosmic COSV5318, ClinVar RCV001877495, REVEL 0.36, CADD 28.30, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- R110H (p.Arg110His), ExAC rs769688321, gnomAD rs769688321, REVEL 0.27, CADD 25.10
- R110L (p.Arg110Leu), NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; moderate impact.
- I112L (p.Ile112Leu), rs1190893544, ClinGen CA399590843, ClinVar RCV002295050, TOPMed rs1190893544, REVEL 0.31, CADD 20.00, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- I112V (p.Ile112Val), TOPMed rs1190893544, gnomAD rs1190893544, REVEL 0.32, CADD 18.50, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Y114H (p.Tyr114His), gnomAD rs1274666221, REVEL 0.13, CADD 21.00
- N115S (p.Asn115Ser), ExAC rs756794353, gnomAD rs756794353, REVEL 0.11, CADD 19.00
- R118S (p.Arg118Ser), rs2080259466, ClinGen CA399590722, ClinVar RCV001303859, Ensembl rs2080259466, AlphaMissense 0.80, MetaLR 0.24, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- L119F (p.Leu119Phe), TOPMed rs1365904259, gnomAD rs1365904259, REVEL 0.33, CADD 20.90
- R121* (p.Arg121Ter), TOPMed rs2080259377, CADD 37.00
- R121G (p.Arg121Gly), rs2080259377, ClinGen CA399590688, ClinVar RCV004465524, REVEL 0.20, CADD 23.20, Uncertain significance, Inborn genetic diseases
- R121L (p.Arg121Leu), rs758843144, ClinGen CA399590680, ClinVar RCV002018363, ClinVar RCV006453857, REVEL 0.21, CADD 24.70, Uncertain significance, not specified; Growth hormone insensitivity with immune dysregulation 1, autosom
- R121Q (p.Arg121Gln), ExAC rs758843144, TOPMed rs758843144, gnomAD rs758843144, REVEL 0.16, CADD 19.80, Uncertain significance
- N124D (p.Asn124Asp), ESP rs374711620, TOPMed rs374711620, gnomAD rs374711620, REVEL 0.06, CADD 21.50, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- N124K (p.Asn124Lys), gnomAD rs1396882691, REVEL 0.05, CADD 19.30
- N125S (p.Asn125Ser), TOPMed rs1318804601, gnomAD rs1318804601, REVEL 0.07, CADD 23.70
- S127C (p.Ser127Cys), rs919159376, ClinGen CA399589711, ClinVar RCV003614946, TOPMed rs919159376, REVEL 0.13, CADD 21.10, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- S127G (p.Ser127Gly), TOPMed rs919159376, gnomAD rs919159376, Uncertain significance
- S127R (p.Ser127Arg), rs1394344287, ClinGen CA399589690, ClinVar RCV004465525, gnomAD rs1394344287, REVEL 0.19, CADD 5.38, Uncertain significance, Inborn genetic diseases
- A130V (p.Ala130Val), rs2277619, ClinGen CA8574284, ClinVar RCV001433639, UniProt VAR 052074, REVEL 0.07, CADD 18.70, Likely benign, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- G131V (p.Gly131Val), rs2144267555, ClinGen CA399589626, ClinVar RCV002005288, Ensembl rs2144267555, AlphaMissense 0.07, MetaLR 0.51, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- S132G (p.Ser132Gly), NCI-TCGA Cosmic COSV9951, Variant assessed as somatic; moderate impact.
- S132N (p.Ser132Asn), rs1312195490, ClinGen CA399589613, ClinVar RCV001864686, gnomAD rs1312195490, REVEL 0.12, CADD 8.48, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- S132R (p.Ser132Arg), ExAC rs770921312, TOPMed rs770921312, gnomAD rs770921312, REVEL 0.12, CADD 7.35
- A134V (p.Ala134Val), gnomAD rs1377209657, REVEL 0.06, CADD 14.70
- D135E (p.Asp135Glu), TOPMed rs1194643096, REVEL 0.31, CADD 0.70
- D135N (p.Asp135Asn), rs760681474, ExAC rs760681474, REVEL 0.10, CADD 23.10, Variant assessed as somatic; moderate impact.
- D135V (p.Asp135Val), gnomAD rs2080248072, REVEL 0.54, CADD 24.30
- A136D (p.Ala136Asp), rs2144267472, ClinGen CA399589550, ClinVar RCV001998171, Ensembl rs2144267472, AlphaMissense 0.23, MetaLR 0.12, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- M137I (p.Met137Ile), TOPMed rs2080248008
- S138F (p.Ser138Phe), Ensembl rs1567662106, REVEL 0.53, CADD 31.00, Uncertain significance, Inborn genetic diseases; Growth hormone insensitivity with immune dysregulation
- S138P (p.Ser138Pro), TOPMed rs1035414287
- Q139* (p.Gln139Ter), rs2508776887, ClinGen CA399589518, ClinVar RCV002811147, Pathogenic
- H141P (p.His141Pro), Ensembl rs941971537
- H141R (p.His141Arg), Ensembl rs941971537
- L142F (p.Leu142Phe), rs2144267377, ClinGen CA399589471, ClinVar RCV003506382, Ensembl rs2144267377, REVEL 0.11, CADD 23.90, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Q143H (p.Gln143His), rs148793995, ClinGen CA8574278, ClinVar RCV000731369, ClinVar RCV001086255, REVEL 0.16, CADD 21.00, Conflicting interpretations, not specified; not provided; Growth hormone insensitivity with immune dysregulat
- Q143P (p.Gln143Pro), ExAC rs771586939, gnomAD rs771586939, REVEL 0.53, CADD 28.00
- I144N (p.Ile144Asn), rs2080247724, ClinGen CA399589426, ClinVar RCV002850954, gnomAD rs2080247724, REVEL 0.71, CADD 28.30, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- N145D (p.Asn145Asp), NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; moderate impact.
- N145K (p.Asn145Lys), rs778582220, ClinGen CA8574277, ClinVar RCV001922810, ExAC rs778582220, REVEL 0.17, CADD 22.80, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Q146E (p.Gln146Glu), rs2080247627, ClinGen CA399589395, ClinVar RCV003857067, ClinVar RCV004527012, REVEL 0.14, CADD 21.20, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; n
- Q146R (p.Gln146Arg), TOPMed rs1475262534, REVEL 0.15, CADD 25.00
- T147K (p.Thr147Lys), ExAC rs768919211, TOPMed rs768919211, gnomAD rs768919211, REVEL 0.19, CADD 21.80, Uncertain significance
- T147M (p.Thr147Met), rs768919211, ClinGen CA290744834, NCI-TCGA Cosmic COSV5318, ClinVar RCV000814771, REVEL 0.18, CADD 24.20, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- F148S (p.Phe148Ser), rs2508776639, ClinGen CA399589359, ClinVar RCV003504932, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- E150K (p.Glu150Lys), rs780393081, ClinGen CA8574274, ClinVar RCV003504673, ExAC rs780393081, REVEL 0.24, CADD 24.30, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- R152* (p.Arg152Ter), rs121908502, ClinGen CA117691, ClinVar RCV000006051, Ensembl rs121908502, CADD 37.00, Pathogenic
- R152P (p.Arg152Pro), ESP rs149614939, ExAC rs149614939, TOPMed rs149614939, gnomAD rs149614939, REVEL 0.56, CADD 28.40
- R152Q (p.Arg152Gln), ESP rs149614939, ExAC rs149614939, TOPMed rs149614939, gnomAD rs149614939, REVEL 0.23, CADD 25.00, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- V154A (p.Val154Ala), gnomAD rs1340562786, REVEL 0.17, CADD 20.70
- V154G (p.Val154Gly), gnomAD rs1340562786, REVEL 0.19, CADD 22.40
- T155M (p.Thr155Met), rs138255473, ClinGen CA8574271, ClinVar RCV001039345, ClinVar RCV005235505, REVEL 0.49, CADD 27.10, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; S
- D157Y (p.Asp157Tyr), rs1334236273, ClinGen CA399589232, ClinVar RCV004465526, gnomAD rs1334236273, REVEL 0.34, CADD 32.00, Uncertain significance, Inborn genetic diseases
- T158A (p.Thr158Ala), gnomAD rs1293924779, REVEL 0.24, CADD 23.60
- T158I (p.Thr158Ile), NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; moderate impact.
- T158K (p.Thr158Lys), TOPMed rs1401493373, gnomAD rs1401493373, REVEL 0.55, CADD 26.90, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- E159Q (p.Glu159Gln), Ensembl rs2080246996, REVEL 0.28, CADD 25.50
- N160D (p.Asn160Asp), TOPMed rs1028475555
- N160S (p.Asn160Ser), ExAC rs764319884, TOPMed rs764319884, gnomAD rs764319884, REVEL 0.15, CADD 16.70, Uncertain significance, Inborn genetic diseases
- E161G (p.Glu161Gly), 1000Genomes rs200923475
- L162F (p.Leu162Phe), ExAC rs759250756, gnomAD rs759250756, REVEL 0.47, CADD 23.50
- Q167P (p.Gln167Pro), rs753748722, ClinGen CA8574266, ClinVar RCV001919678, ExAC rs753748722, AlphaMissense 0.99, MetaLR 0.35, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Q169E (p.Gln169Glu), ExAC rs759946844, gnomAD rs759946844, REVEL 0.63, CADD 26.20
- I173L (p.Ile173Leu), Ensembl rs976868044
- I174T (p.Ile174Thr), TOPMed rs1053189904
- Q177P (p.Gln177Pro), rs1555549674, ClinGen CA399588817, ClinVar RCV000625745, ClinVar RCV001254778, AlphaMissense 0.99, MetaLR 0.42, Pathogenic, Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dom
- Q177R (p.Gln177Arg), rs1555549674, ClinGen CA399588818, ClinVar RCV003857524, ClinVar RCV004369511, AlphaMissense 0.99, MetaLR 0.42, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; I
- S179N (p.Ser179Asn), ESP rs376439732
- L180Q (p.Leu180Gln), rs1031852875, ClinGen CA290744774, ClinVar RCV001056148, ClinVar RCV002554395, REVEL 0.32, CADD 23.20, Uncertain significance, Growth hormone insensitivity syndrome with immune dysregulation; Inborn genetic
- Q183H (p.Gln183His), gnomAD rs1459499647, REVEL 0.40, CADD 23.90
- A184V (p.Ala184Val), gnomAD rs1303688239, REVEL 0.20, CADD 27.60
- Q185R (p.Gln185Arg), Ensembl rs1598304181
- F186L (p.Phe186Leu), TOPMed rs2080208892
- G187A (p.Gly187Ala), rs746169589, ClinGen CA8574237, ClinVar RCV001905562, ExAC rs746169589, REVEL 0.12, CADD 11.40, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- G187C (p.Gly187Cys), NCI-TCGA Cosmic COSV5318, Variant assessed as somatic; moderate impact.
- P188A (p.Pro188Ala), TOPMed rs1324335332, gnomAD rs1324335332, REVEL 0.07, CADD 15.30
- P188L (p.Pro188Leu), rs143092033, ClinGen CA8574235, ClinVar RCV002035011, ClinVar RCV005742262, REVEL 0.06, CADD 15.60, Uncertain significance, Inborn genetic diseases; Growth hormone insensitivity with immune dysregulation
- P188Q (p.Pro188Gln), rs143092033, ClinGen CA8574236, ClinVar RCV001940758, ESP rs143092033, REVEL 0.09, CADD 10.60, Uncertain significance, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- A190D (p.Ala190Asp), ExAC rs777956676, TOPMed rs777956676, gnomAD rs777956676, REVEL 0.16, CADD 17.20, Uncertain significance, Inborn genetic diseases
- L192P (p.Leu192Pro), ExAC rs758519390, REVEL 0.38, CADD 24.90
- S193N (p.Ser193Asn), Ensembl rs2144252083
- P194L (p.Pro194Leu), NCI-TCGA TCGA novel, REVEL 0.16, CADD 24.50, Variant assessed as somatic; moderate impact.
- Q195R (p.Gln195Arg), gnomAD rs1434454790, REVEL 0.06, CADD 22.70
- R197C (p.Arg197Cys), gnomAD rs1396130852, REVEL 0.38, CADD 25.30
- R197H (p.Arg197His), gnomAD rs1326533398, REVEL 0.26, CADD 27.30, Uncertain significance, Inborn genetic diseases
- L198P (p.Leu198Pro), Ensembl rs2080208358, REVEL 0.12, CADD 22.90
- S199N (p.Ser199Asn), gnomAD rs1195715633, REVEL 0.12, CADD 20.20
- R200Q (p.Arg200Gln), rs779220548, ClinGen CA8574230, ClinVar RCV001373322, ClinVar RCV002548671, REVEL 0.16, CADD 23.80, Uncertain significance, Inborn genetic diseases; Growth hormone insensitivity with immune dysregulation
- T202A (p.Thr202Ala), ExAC rs755979362, gnomAD rs755979362, REVEL 0.06, CADD 13.80
- T202M (p.Thr202Met), rs992474490, NCI-TCGA Cosmic COSV5318, TOPMed rs992474490, gnomAD rs992474490, REVEL 0.15, CADD 25.20, Uncertain significance, Inborn genetic diseases
- A203V (p.Ala203Val), ESP rs139065819, ExAC rs139065819, TOPMed rs139065819, gnomAD rs139065819, REVEL 0.06, CADD 20.10
- Q205H (p.Gln205His), Ensembl rs2080208072
- Q206R (p.Gln206Arg), TOPMed rs1025430307, gnomAD rs1025430307, REVEL 0.13, CADD 19.30
- K207R (p.Lys207Arg), NCI-TCGA Cosmic COSV9951, Variant assessed as somatic; moderate impact.
Public STAT5B analysis runs
- STAT5B analysis run — STAT5B (841 variants) — completed 2026-08-20