Sugi Variant

Sugi Variant/STAT5B

STAT5B — 602 ClinVar variants

All ClinVar germline STAT5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →

24 Pathogenic · 7 Likely pathogenic · 13 Conflicting · 12 Benign · 13 Benign/Likely benign · 238 Likely benign · 295 Uncertain significance

Full STAT5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 255

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 199

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 199

Predictors split 52

The independent predictors disagree with each other — read with care.

All STAT5B variants

Pathogenic 24

  • p.Gln368fs Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu142fs Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala714Ter Single submitter
  • p.Arg31fs Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Cys101Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln139Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln337Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln41Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln636Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln6Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu395Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu689Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu82fs Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Lys501fs Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Lys583fs Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Trp573Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Trp631Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr405fs Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1680+1del No assertion criteria growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala630Pro No assertion criteria growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Arg152Ter No assertion criteria growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn398fs No assertion criteria growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln177Pro No assertion criteria growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
  • p.Gln474Arg No assertion criteria growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

Likely pathogenic 7

  • c.1906+1G>A Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1474-2_1474delinsT Single submitter
  • c.1681-2A>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1776-21_1786dup Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln703Ter Single submitter STAT5B-related disorder
  • p.Lys207Asn Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Lys632Asn Single submitter growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠

Conflicting classifications of pathogenicity 13

  • c.286-8T>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.550+7C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.551-5T>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.834-7C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala510Val Single submitter Inborn genetic diseases ⚠
  • p.Arg353His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg523= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn642His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln143His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln59= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu94Phe Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ser45= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val30= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Benign 12

Benign/Likely benign 13

  • c.2077+12C>T Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2237+15T>C Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.285+12C>T Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.376-15C>G Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala230= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala57= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn54= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp575= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu445= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly263= Multiple submitters
  • p.Leu83= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro367= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr331= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Likely benign 238

  • c.1257+19G>A Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.129-8T>C Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1380+17G>C Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1474-9C>T Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2078-18A>G Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2130-8T>A Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.376-17C>T Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.550+8G>A Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.551-10C>T Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.551-12C>T Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.834-18C>T Multiple submitters
  • c.989+9T>C Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala283= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala657= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala716= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala718= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala729Ser Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Arg226= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp250= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp764= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Cys401= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln786= Multiple submitters Inborn genetic diseases
  • p.Gly265= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly755= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.His784= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu455= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu464= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu585= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Lys705= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser427= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr388= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr441= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr724= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr753= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr699= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val65= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val707= Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1169+14T>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1169+14T>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1169+16C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1170-17C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1257+12A>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1257+19del Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1258-13T>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1258-16T>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1258-20C>G Single submitter
  • c.1258-8_1258-6del Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.128+15A>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.128+17G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.129-19_129-16del Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.129-6C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1380+16A>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1381-14T>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1381-17C>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1473+15C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1473+18G>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1473+7G>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1474-11C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1474-14TC[2] Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1474-15C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1680+15T>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1680+8G>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1681-15T>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1681-4C>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1907-15T>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1907-4C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1907-8T>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2077+13G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2077+7A>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2078-22_2078-14del Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2129+11A>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2129+11A>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2129+8T>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2129+9C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2130-10C>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2130-12T>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2130-13C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2130-18G>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2237+16G>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2238-19C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.285+7G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.286-7C>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.375+9C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.376-10A>C Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.376-10A>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.376-12A>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.376-18C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.376-4C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.376-8G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.550+11G>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.550+14G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.550+20C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.550+7C>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.550+9C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.551-11C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.551-20T>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.551-9C>T Single submitter
  • c.681+17G>A Single submitter
  • c.681+9G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.833+12G>C Single submitter
  • c.834-6G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.834-9C>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.989+10G>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.990-11G>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.990-16C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala130Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala20= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala371= Single submitter
  • p.Ala414= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala497= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala510= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala517= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala534= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala693= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala695= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala714= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala785= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala91= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Arg110= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn160= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn317= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn361= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn365= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn385= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn387= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn398= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn713= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp273= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp428= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp485= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp650= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp754= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp778= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln175= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln24= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln302= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln458= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln474= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln572= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln601= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln706= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln780= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu150= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu280= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu518= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu546= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu770= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly187= Single submitter
  • p.Gly266= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly357= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly394= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly472= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly576= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly625= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly719= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly720= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly77= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.His141= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.His363= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.His584= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ile247= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ile28= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ile442= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ile469= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu105= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu162= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu282= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu397= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu421= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu462= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu483= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu530= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu581= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu595= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu60= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu607= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu617= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu64= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu643= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu660= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu68= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu759= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu772= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Lys232= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Lys380= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Lys582= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Phe532= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Phe757= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro188= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro194= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro27= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro366= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro505= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro611= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro645= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro671= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro674= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro687= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro736= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro744= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro783= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser138= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser193= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser210= Single submitter
  • p.Ser325= Single submitter
  • p.Ser420= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser434= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser473= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser552= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser680= Single submitter
  • p.Ser722= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser749= Single submitter
  • p.Ser787= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr147= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr155= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr158= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr321= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr351= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr479= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr481= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr569= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Thr97= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr33= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr392= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr548= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr568= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr665= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr668= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr90= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val209= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val341= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val352= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val531= Single submitter
  • p.Val553= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val669= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val750= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gly596= No assertion criteria STAT5B-related disorder
  • p.Val435= No assertion criteria STAT5B-related disorder

Uncertain significance 295

  • p.Ala20Glu Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala20Val Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala213Gly Multiple submitters growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠
  • p.Ala213Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala723Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala785Thr Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg121Leu Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg152Gln Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg200Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg226Cys Multiple submitters STAT5B-related disorder ⚠
  • p.Arg226His Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg258Gln Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg353Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg423Gln Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg768Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn741Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp157Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp758Asn Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Cys735Arg Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln146Glu Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln177Arg Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln337Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln378Leu Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln535His Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln66Arg Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Glu231Lys Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Glu269Lys Multiple submitters growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠
  • p.Glu689Lys Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gly263Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly721Ser Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.His406Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His739Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile5Leu Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ile782Leu Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Leu180Gln Multiple submitters growth hormone insensitivity syndrome with immune dysregulation ⚠
  • p.Leu772Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Lys501Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met639Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met726Ile Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Phe416Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Pro188Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro267Ser Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro564Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser138Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser446Phe Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ser556Thr Multiple submitters growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠
  • p.Ser787Pro Multiple submitters growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠
  • p.Thr155Met Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr58Ile Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr648Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr724Met Multiple submitters growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠
  • p.Val362Met Multiple submitters STAT5B-related disorder ⚠
  • p.Val468Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val531Met Multiple submitters growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val669Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val686Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1170-17CT[3] Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1170-3C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1258-5T>C Single submitter Monogenic short statue
  • c.129-4C>T Single submitter
  • c.1380+6G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1474-9C>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1680+3G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1681-5A>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.1775+3G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2078-13C>A Single submitter
  • c.2129+16G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.2130-5T>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.285+4G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.285+6_285+11del Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.286-232C>T Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.550+5G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.681+3G>A Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • c.681+4A>G Single submitter
  • c.-11+7921A>G Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ala136Asp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala190Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala203Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala318Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala478Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala714Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala716Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala729Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala729Val Single submitter ⚠
  • p.Ala766Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala7Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ala7Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg100Cys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg107Cys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Arg107His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg110Cys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Arg118Ser Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg121Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg121Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg197His Single submitter Inborn genetic diseases ⚠
  • p.Arg217His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg241Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg241Trp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Arg290Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg290Pro Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg294Cys Single submitter Inborn genetic diseases
  • p.Arg295Lys Single submitter ⚠
  • p.Arg31Trp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg389His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg429Cys Single submitter ⚠
  • p.Arg560= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Arg566Gln Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg566Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg659Cys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg659His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg673Gln Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg673Trp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg767Gln Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg767Trp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg768His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Arg775Gln Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn124Asp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn125= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn145Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn160Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn365Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn385Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn453Asp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asn476Asp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn540Ser Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn559Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn642Ser Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asp475Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asp47Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asp485Gly Single submitter ⚠
  • p.Asp500Asn Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Asp500Glu Single submitter ⚠
  • p.Asp575His Single submitter ⚠
  • p.Asp748Asn Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asp748Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asp754Asn Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asp754Gly Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asp761Gly Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asp778Gly Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Cys108Ser Single submitter
  • p.Cys300Tyr Single submitter ⚠
  • p.Cys688= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Cys688Tyr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln117Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln139= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln166Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln167Pro Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln224Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln224Glu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln224His Single submitter Inborn genetic diseases ⚠
  • p.Gln288Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln377Arg Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln407Arg Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln52Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln59His Single submitter Inborn genetic diseases ⚠
  • p.Gln636Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln737Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Gln745Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gln95= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu104Val Single submitter ⚠
  • p.Glu150Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Glu251Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu335Gly Single submitter ⚠
  • p.Glu386Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Glu433Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Glu454Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Glu518Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Glu546Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Glu677Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly131Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gly187_Pro188delinsAlaGln Single submitter
  • p.Gly187Ala Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gly23Asp Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gly266Arg Single submitter ⚠
  • p.Gly358Arg Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gly410= Single submitter
  • p.Gly451Ser Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Gly698Val Single submitter ⚠
  • p.Gly720Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.His16Gln Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.His16Tyr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.His25Arg Single submitter Inborn genetic diseases ⚠
  • p.His406Arg Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.His74Asn Single submitter ⚠
  • p.Ile109Asn Single submitter ⚠
  • p.Ile112Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ile112Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ile144Asn Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ile285Val Single submitter STAT5B-related growth hormone insensitivity syndrome ⚠
  • p.Ile305Val Single submitter ⚠
  • p.Ile334Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ile373Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ile38Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ile442Val Single submitter ⚠
  • p.Ile55Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ile608Leu Single submitter ⚠
  • p.Ile608Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Leu142Phe Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Leu151Val Single submitter ⚠
  • p.Leu162Phe Single submitter ⚠
  • p.Leu215Ser Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Leu272Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Leu275= Single submitter
  • p.Leu299Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu397Phe Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Leu60Phe Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Leu61Pro Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Leu759Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Lys163Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys207Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys235Gln Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Lys242Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys582Arg Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Lys70Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met103Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met137Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met364Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met364Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met403Arg Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met726Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met742Ile Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met742Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met742Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Met777Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Phe148Ser Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Phe416= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Phe444Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Phe488Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Phe488Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Phe532Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Phe615Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Phe640Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe651Ile Single submitter ⚠
  • p.Phe757Ter Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Pro188Gln Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro267Ala Single submitter ⚠
  • p.Pro268Ser Single submitter ⚠
  • p.Pro338Ser Single submitter growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠
  • p.Pro366Ala Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro367Arg Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro367His Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro367Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro587Ala Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro587Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro674Thr Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro732Gln Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Pro783Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ser127Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser127Cys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ser128Ala Single submitter ⚠
  • p.Ser132Asn Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ser381Pro Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ser393Gly Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ser434Val Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser449Asn Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Ser543Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser543Gly Single submitter ⚠
  • p.Ser549Gly Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Ser652Phe Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr147Met Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr158Lys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr202Met Single submitter Inborn genetic diseases ⚠
  • p.Thr236Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr331Met Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr344Pro Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr346Ser Single submitter growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠
  • p.Thr351Ser Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr409Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr436Arg Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr436Ile Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr461Ile Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr628Ser Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Thr97Met Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Trp214Cys Single submitter ⚠
  • p.Trp37_Ile38delinsCys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Tyr33Cys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Tyr548Cys Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val227Met Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val274Met Single submitter Inborn genetic diseases ⚠
  • p.Val309Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val30Leu Single submitter Inborn genetic diseases ⚠
  • p.Val3Met Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val450Gly Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val470Ile Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val519Ala Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val696Ile Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val700Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val700Met Single submitter ⚠
  • p.Val712Glu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val750Leu Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Val76= Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  • p.Val765Ile Single submitter growth hormone insensitivity with immune dysregulation 1, autosomal recessive ⚠
  • p.Asn477Ser No assertion criteria STAT5B-related disorder
  • p.Asn96His No assertion criteria STAT5B-related disorder ⚠
  • p.Gly524Cys No assertion criteria growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant ⚠