GHSR — 298 ClinVar variants
All ClinVar germline GHSR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 11 Conflicting · 18 Benign · 5 Benign/Likely benign · 67 Likely benign · 195 Uncertain significance
Full GHSR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
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 agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GHSR p.Ala204Glu
Conflicting
Single submitter
short stature due to GHSR deficiency
-
GHSR p.Ala23Val
Conflicting
Single submitter
short stature due to GHSR deficiency
-
GHSR p.Ala358Thr
Conflicting
Single submitter
short stature due to GHSR deficiency
-
GHSR p.Arg357Gln
Conflicting
Single submitter
short stature due to GHSR deficiency
-
GHSR p.Cys275Arg
Conflicting
Single submitter
Inborn genetic diseases
-
GHSR p.Phe147Tyr
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GHSR p.Arg141Leu Uncertain significance Multiple submitters
-
GHSR p.Arg141Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHSR p.Arg237Trp
Uncertain significance
Multiple submitters
short stature due to GHSR deficiency
- GHSR p.Glu73Asp Uncertain significance Multiple submitters
- GHSR p.Ile167Phe Uncertain significance Multiple submitters
-
GHSR p.Ile58Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GHSR p.Leu118Arg Uncertain significance Multiple submitters
-
GHSR p.Leu274Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHSR p.Leu42Val
Uncertain significance
Multiple submitters
short stature due to GHSR deficiency
- GHSR p.Pro320His Uncertain significance Multiple submitters
- GHSR p.Ser123Gly Uncertain significance Multiple submitters
-
GHSR p.Thr229Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHSR p.Thr49Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHSR p.Thr64Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GHSR p.Trp109Arg Uncertain significance Multiple submitters
- GHSR p.Trp168Arg Uncertain significance Multiple submitters
-
GHSR p.Val216Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GHSR p.Val267Ala Uncertain significance Multiple submitters
- GHSR p.Ala169Thr Uncertain significance Single submitter
- GHSR p.Ala17Asp Uncertain significance Single submitter
- GHSR p.Ala17Thr Uncertain significance Single submitter
-
GHSR p.Ala316Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHSR p.Ala333Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Ala44Val Uncertain significance Single submitter
- GHSR p.Arg150Gln Uncertain significance Single submitter
- GHSR p.Arg199Gly Uncertain significance Single submitter
- GHSR p.Arg237Lys Uncertain significance Single submitter
-
GHSR p.Arg241Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Arg243Lys Uncertain significance Single submitter
- GHSR p.Arg331Trp Uncertain significance Single submitter
-
GHSR p.Arg357Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Arg70Leu Uncertain significance Single submitter
- GHSR p.Arg70Pro Uncertain significance Single submitter
- GHSR p.Arg75His Uncertain significance Single submitter
- GHSR p.Arg75Leu Uncertain significance Single submitter
- GHSR p.Asp18Asn Uncertain significance Single submitter
- GHSR p.Asp18Tyr Uncertain significance Single submitter
-
GHSR p.Asp20Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Asp246Ala Uncertain significance Single submitter
- GHSR p.Asp32Tyr Uncertain significance Single submitter
- GHSR p.Asp353Asn Uncertain significance Single submitter
- GHSR p.Cys227Phe Uncertain significance Single submitter
- GHSR p.Gln256Lys Uncertain significance Single submitter
- GHSR p.Gln260Pro Uncertain significance Single submitter
- GHSR p.Gln36His Uncertain significance Single submitter
- GHSR p.Glu187Lys Uncertain significance Single submitter
- GHSR p.Glu341Lys Uncertain significance Single submitter
- GHSR p.Glu354Asp Uncertain significance Single submitter
-
GHSR p.Glu73Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.His258Arg Uncertain significance Single submitter
- GHSR p.His258Tyr Uncertain significance Single submitter
- GHSR p.Ile235Thr Uncertain significance Single submitter
- GHSR p.Ile325Asn Uncertain significance Single submitter
- GHSR p.Leu114Pro Uncertain significance Single submitter
- GHSR p.Leu149Ile Uncertain significance Single submitter
- GHSR p.Leu19Arg Uncertain significance Single submitter
-
GHSR p.Leu19Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHSR p.Leu314Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Leu348Phe Uncertain significance Single submitter
- GHSR p.Leu34Met Uncertain significance Single submitter
- GHSR p.Leu34Pro Uncertain significance Single submitter
- GHSR p.Leu53Pro Uncertain significance Single submitter
- GHSR p.Leu80Val Uncertain significance Single submitter
- GHSR p.Lys117Thr Uncertain significance Single submitter
- GHSR p.Lys238Arg Uncertain significance Single submitter
-
GHSR p.Lys329Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Met65Ile Uncertain significance Single submitter
- GHSR p.Met85Lys Uncertain significance Single submitter
- GHSR p.Phe270Val Uncertain significance Single submitter
- GHSR p.Phe340Leu Uncertain significance Single submitter
- GHSR p.Phe38Tyr Uncertain significance Single submitter
- GHSR p.Pro10Gln Uncertain significance Single submitter
- GHSR p.Pro192Leu Uncertain significance Single submitter
- GHSR p.Pro224Ala Uncertain significance Single submitter
- GHSR p.Pro278Thr Uncertain significance Single submitter
- GHSR p.Pro292Ser Uncertain significance Single submitter
-
GHSR p.Ser344Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Ser355Arg Uncertain significance Single submitter
- GHSR p.Ser355Ile Uncertain significance Single submitter
- GHSR p.Ser363Asn Uncertain significance Single submitter
- GHSR p.Ser7Arg Uncertain significance Single submitter
- GHSR p.Ser7Gly Uncertain significance Single submitter
- GHSR p.Ser88Tyr Uncertain significance Single submitter
- GHSR p.Thr201Asn Uncertain significance Single submitter
- GHSR p.Thr201Ile Uncertain significance Single submitter
- GHSR p.Thr350Ser Uncertain significance Single submitter
- GHSR p.Thr47Ile Uncertain significance Single submitter
-
GHSR p.Thr5Met
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Thr78Asn Uncertain significance Single submitter
- GHSR p.Tyr313Cys Uncertain significance Single submitter
-
GHSR p.Val122Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Val170Met Uncertain significance Single submitter
- GHSR p.Val249Leu Uncertain significance Single submitter
- GHSR p.Val268Met Uncertain significance Single submitter
- GHSR p.Val281Ile Uncertain significance Single submitter
-
GHSR p.Val332Leu
Uncertain significance
Single submitter
short stature due to GHSR deficiency
- GHSR p.Val51Leu Uncertain significance Single submitter
- GHSR p.Val56Met Uncertain significance Single submitter
- GHSR p.Asp32Glu Uncertain significance No assertion criteria
- GHSR p.Gly245Ser Uncertain significance No assertion criteria
Predictors split 37
The independent predictors disagree with each other — read with care.
-
GHSR p.Arg206Pro
Uncertain significance
Multiple submitters
short stature due to GHSR deficiency
- GHSR p.Glu9Lys Uncertain significance Multiple submitters
-
GHSR p.Lys259Asn
Uncertain significance
Multiple submitters
short stature due to GHSR deficiency
-
GHSR p.Phe220Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHSR p.Ser252Leu
Uncertain significance
Multiple submitters
short stature due to GHSR deficiency
-
GHSR p.Ala144Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHSR p.Ala44Glu
Uncertain significance
Single submitter
short stature due to GHSR deficiency
- GHSR p.Ala48Asp Uncertain significance Single submitter
- GHSR p.Arg283Gln Uncertain significance Single submitter
- GHSR p.Arg72Gly Uncertain significance Single submitter
-
GHSR p.Cys275Ser
Uncertain significance
Single submitter
short stature due to GHSR deficiency
- GHSR p.Glu197Lys Uncertain significance Single submitter
- GHSR p.Gly183Ala Uncertain significance Single submitter
-
GHSR p.Gly183Glu
Uncertain significance
Single submitter
short stature due to GHSR deficiency
- GHSR p.Ile134Thr Likely benign Single submitter
- GHSR p.Ile178Thr Uncertain significance Single submitter
- GHSR p.Ile235Val Uncertain significance Single submitter
- GHSR p.Ile58Asn Uncertain significance Single submitter
- GHSR p.Leu277Phe Uncertain significance Single submitter
- GHSR p.Met264Ile Uncertain significance Single submitter
-
GHSR p.Met326Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHSR p.Phe119Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Phe220Leu Uncertain significance Single submitter
-
GHSR p.Phe221Leu
Uncertain significance
Single submitter
short stature due to GHSR deficiency
- GHSR p.Phe93Cys Uncertain significance Single submitter
- GHSR p.Phe93Ser Uncertain significance Single submitter
- GHSR p.Pro177Ser Uncertain significance Single submitter
-
GHSR p.Ser123Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GHSR p.Ser125Arg Uncertain significance Single submitter
- GHSR p.Ser289Phe Uncertain significance Single submitter
- GHSR p.Thr5Lys Uncertain significance Single submitter
- GHSR p.Trp215Arg Uncertain significance Single submitter
-
GHSR p.Tyr313His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHSR p.Val55Met
Uncertain significance
Single submitter
GHSR-related disorder
- GHSR p.Val67Ala Uncertain significance Single submitter
-
GHSR p.Val68Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHSR p.Phe309Ile
Uncertain significance
No assertion criteria
pseudohypoparathyroidism type 1B
All GHSR variants
Pathogenic 1
- p.Trp2Ter No assertion criteria short stature due to GHSR deficiency
Likely pathogenic 1
- p.Cys173Arg Single submitter
Conflicting classifications of pathogenicity 11
- p.Ala204Glu Single submitter short stature due to GHSR deficiency ⚠
- p.Ala23Val Single submitter short stature due to GHSR deficiency ⚠
- p.Ala358Thr Single submitter short stature due to GHSR deficiency ⚠
- p.Arg357Gln Single submitter short stature due to GHSR deficiency ⚠
- p.Cys275Arg Single submitter Inborn genetic diseases ⚠
- p.Gly339= Single submitter short stature due to GHSR deficiency
- p.Leu34= Single submitter short stature due to GHSR deficiency
- p.Phe147Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser308= Single submitter short stature due to GHSR deficiency
- p.Thr77= Single submitter short stature due to GHSR deficiency
- p.Val182Ala Single submitter short stature due to GHSR deficiency
Benign 18
- c.*114A>G Multiple submitters short stature due to GHSR deficiency
- c.*122C>T Multiple submitters short stature due to GHSR deficiency
- p.Ala48= Multiple submitters short stature due to GHSR deficiency
- p.Arg159= Multiple submitters short stature due to GHSR deficiency
- p.Asp20= Multiple submitters short stature due to GHSR deficiency
- p.Gly57= Multiple submitters short stature due to GHSR deficiency
- c.796+219TC[5] Single submitter
- c.796+245T>C Single submitter
- c.797-194C>T Single submitter
- c.*1024G>C Single submitter short stature due to GHSR deficiency
- c.*1109G>T Single submitter short stature due to GHSR deficiency
- c.*1308T>G Single submitter short stature due to GHSR deficiency
- c.*1736A>G Single submitter short stature due to GHSR deficiency
- c.*792G>C Single submitter short stature due to GHSR deficiency
- c.*796A>T Single submitter short stature due to GHSR deficiency
- c.*834C>A Single submitter short stature due to GHSR deficiency
- p.Ser29= Single submitter
- p.Thr127= Single submitter
Benign/Likely benign 5
- p.Ala144= Multiple submitters
- p.Arg70= Multiple submitters short stature due to GHSR deficiency
- p.Leu118= Multiple submitters short stature due to GHSR deficiency
- p.Leu91Phe Multiple submitters short stature due to GHSR deficiency
- p.Pro177= Multiple submitters short stature due to GHSR deficiency
Likely benign 67
- p.Ala204= Multiple submitters
- p.Phe343= Multiple submitters
- p.Thr156= Multiple submitters
- p.Val68= Multiple submitters
- c.796+12C>A Single submitter
- c.796+14C>T Single submitter
- c.796+15G>A Single submitter
- c.796+16C>T Single submitter
- c.796+17G>C Single submitter
- c.796+18C>T Single submitter
- c.796+41T>C Single submitter
- c.797-12T>C Single submitter
- c.*1158G>A Single submitter short stature due to GHSR deficiency
- c.*1161C>T Single submitter short stature due to GHSR deficiency
- c.*1728A>G Single submitter short stature due to GHSR deficiency
- c.*1775G>A Single submitter short stature due to GHSR deficiency
- c.*378T>C Single submitter short stature due to GHSR deficiency
- c.*398T>C Single submitter short stature due to GHSR deficiency
- c.*813A>G Single submitter short stature due to GHSR deficiency
- c.*829C>A Single submitter short stature due to GHSR deficiency
- p.Ala169= Single submitter
- p.Ala298= Single submitter
- p.Ala333= Single submitter
- p.Arg244= Single submitter
- p.Arg72= Single submitter
- p.Asn27= Single submitter
- p.Asn324= Single submitter
- p.Gln120= Single submitter
- p.Gln36del Single submitter
- p.Glu33Lys Single submitter
- p.Glu9= Single submitter
- p.Gly11= Single submitter
- p.Gly158= Single submitter
- p.Gly26= Single submitter
- p.Gly45= Single submitter
- p.His280= Single submitter
- p.Ile134Thr Single submitter ⚠
- p.Ile273= Single submitter
- p.Ile273Val Single submitter
- p.Leu100= Single submitter
- p.Leu149= Single submitter
- p.Leu19= Single submitter
- p.Leu210= Single submitter
- p.Leu231= Single submitter
- p.Leu234= Single submitter
- p.Leu277= Single submitter
- p.Leu322= Single submitter
- p.Leu338= Single submitter
- p.Leu35= Single submitter
- p.Leu42= Single submitter
- p.Leu43= Single submitter
- p.Lys238= Single submitter
- p.Phe143= Single submitter
- p.Phe272= Single submitter
- p.Phe340= Single submitter
- p.Pro25= Single submitter
- p.Ser362= Single submitter
- p.Ser69= Single submitter
- p.Ser88= Single submitter
- p.Thr190= Single submitter
- p.Thr350= Single submitter
- p.Tyr284= Single submitter
- p.Tyr313= Single submitter
- p.Tyr81= Single submitter
- p.Val153= Single submitter
- p.Val225= Single submitter
- p.Val230= Single submitter
Uncertain significance 195
- p.Arg141Leu Multiple submitters ⚠
- p.Arg141Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg206Pro Multiple submitters short stature due to GHSR deficiency ⚠
- p.Arg237Trp Multiple submitters short stature due to GHSR deficiency ⚠
- p.Arg283Ter Multiple submitters
- p.Glu73Asp Multiple submitters ⚠
- p.Glu9Lys Multiple submitters ⚠
- p.Ile167Phe Multiple submitters ⚠
- p.Ile58Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu118Arg Multiple submitters ⚠
- p.Leu274Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu42Val Multiple submitters short stature due to GHSR deficiency ⚠
- p.Lys259Asn Multiple submitters short stature due to GHSR deficiency ⚠
- p.Met264fs Multiple submitters
- p.Phe12fs Multiple submitters
- p.Phe220Cys Multiple submitters Inborn genetic diseases ⚠
- p.Phe279fs Multiple submitters
- p.Pro320His Multiple submitters ⚠
- p.Ser123Gly Multiple submitters ⚠
- p.Ser252Leu Multiple submitters short stature due to GHSR deficiency ⚠
- p.Thr229Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr49Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr64fs Multiple submitters
- p.Thr64Ser Multiple submitters Inborn genetic diseases ⚠
- p.Trp109Arg Multiple submitters ⚠
- p.Trp168Arg Multiple submitters ⚠
- p.Tyr128Ter Multiple submitters
- p.Val214Ala Multiple submitters
- p.Val216Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val267Ala Multiple submitters ⚠
- c.796+1039_830del Single submitter short stature due to GHSR deficiency
- c.796+1G>C Single submitter
- c.797-12T>G Single submitter
- c.797-9T>A Single submitter
- c.-23G>A Single submitter short stature due to GHSR deficiency
- c.*1046T>A Single submitter short stature due to GHSR deficiency
- c.*1073A>G Single submitter short stature due to GHSR deficiency
- c.*1268T>C Single submitter short stature due to GHSR deficiency
- c.*1345G>T Single submitter short stature due to GHSR deficiency
- c.*1445A>G Single submitter short stature due to GHSR deficiency
- c.*1506C>A Single submitter short stature due to GHSR deficiency
- c.*1532C>G Single submitter short stature due to GHSR deficiency
- c.*1608C>T Single submitter short stature due to GHSR deficiency
- c.*1712T>A Single submitter short stature due to GHSR deficiency
- c.*1805G>A Single submitter short stature due to GHSR deficiency
- c.*1815C>G Single submitter short stature due to GHSR deficiency
- c.*1832G>A Single submitter short stature due to GHSR deficiency
- c.*1857G>A Single submitter short stature due to GHSR deficiency
- c.*294C>A Single submitter short stature due to GHSR deficiency
- c.*300G>A Single submitter short stature due to GHSR deficiency
- c.*472C>T Single submitter short stature due to GHSR deficiency
- c.*512A>G Single submitter short stature due to GHSR deficiency
- c.*5G>A Single submitter short stature due to GHSR deficiency
- c.*676C>T Single submitter short stature due to GHSR deficiency
- c.*747G>T Single submitter short stature due to GHSR deficiency
- c.*758G>A Single submitter short stature due to GHSR deficiency
- c.*840A>G Single submitter short stature due to GHSR deficiency
- c.*842T>A Single submitter short stature due to GHSR deficiency
- c.*950A>C Single submitter short stature due to GHSR deficiency
- p.Ala144Val Single submitter Inborn genetic diseases ⚠
- p.Ala169Thr Single submitter ⚠
- p.Ala17Asp Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala316Val Single submitter Inborn genetic diseases ⚠
- p.Ala333Val Single submitter Inborn genetic diseases ⚠
- p.Ala44Glu Single submitter short stature due to GHSR deficiency ⚠
- p.Ala44Val Single submitter ⚠
- p.Ala48Asp Single submitter ⚠
- p.Arg150Gln Single submitter ⚠
- p.Arg159Gly Single submitter
- p.Arg199Gly Single submitter ⚠
- p.Arg237Lys Single submitter ⚠
- p.Arg241Leu Single submitter Inborn genetic diseases ⚠
- p.Arg243Lys Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg331Trp Single submitter ⚠
- p.Arg357Trp Single submitter Inborn genetic diseases ⚠
- p.Arg70Leu Single submitter ⚠
- p.Arg70Pro Single submitter ⚠
- p.Arg72Gly Single submitter ⚠
- p.Arg75His Single submitter ⚠
- p.Arg75Leu Single submitter ⚠
- p.Asn324del Single submitter
- p.Asp113His Single submitter
- p.Asp18_Leu19delinsGluVal Single submitter
- p.Asp18Asn Single submitter ⚠
- p.Asp18Tyr Single submitter ⚠
- p.Asp20Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp246Ala Single submitter ⚠
- p.Asp28= Single submitter short stature due to GHSR deficiency
- p.Asp32Tyr Single submitter ⚠
- p.Asp353Asn Single submitter ⚠
- p.Asp99_Leu100delinsGluPhe Single submitter
- p.Cys116fs Single submitter short stature due to GHSR deficiency
- p.Cys227Phe Single submitter ⚠
- p.Cys275Ser Single submitter short stature due to GHSR deficiency ⚠
- p.Cys50Ter Single submitter GHSR-related disorder
- p.Gln256Lys Single submitter ⚠
- p.Gln256Ter Single submitter short stature due to GHSR deficiency
- p.Gln260Pro Single submitter ⚠
- p.Gln36His Single submitter ⚠
- p.Glu185Ter Single submitter
- p.Glu187Lys Single submitter ⚠
- p.Glu197Lys Single submitter ⚠
- p.Glu341Lys Single submitter ⚠
- p.Glu354Asp Single submitter ⚠
- p.Glu73Gln Single submitter Inborn genetic diseases ⚠
- p.Gly183Ala Single submitter ⚠
- p.Gly183Glu Single submitter short stature due to GHSR deficiency ⚠
- p.Gly189Arg Single submitter
- p.Gly26fs Single submitter short stature due to GHSR deficiency
- p.Gly293fs Single submitter
- p.Gly57Asp Single submitter
- p.His258Arg Single submitter ⚠
- p.His258Tyr Single submitter ⚠
- p.Ile178Thr Single submitter ⚠
- p.Ile235Thr Single submitter ⚠
- p.Ile235Val Single submitter ⚠
- p.Ile325Asn Single submitter ⚠
- p.Ile58Asn Single submitter ⚠
- p.Leu114Pro Single submitter ⚠
- p.Leu149Ile Single submitter ⚠
- p.Leu19Arg Single submitter ⚠
- p.Leu19Gln Single submitter Inborn genetic diseases ⚠
- p.Leu277Phe Single submitter ⚠
- p.Leu314Phe Single submitter Inborn genetic diseases ⚠
- p.Leu348Phe Single submitter ⚠
- p.Leu34Met Single submitter ⚠
- p.Leu34Pro Single submitter ⚠
- p.Leu351= Single submitter short stature due to GHSR deficiency
- p.Leu53Pro Single submitter ⚠
- p.Leu80Val Single submitter ⚠
- p.Lys117Thr Single submitter ⚠
- p.Lys238Arg Single submitter ⚠
- p.Lys329Thr Single submitter Inborn genetic diseases ⚠
- p.Met264Ile Single submitter ⚠
- p.Met326Ile Single submitter Inborn genetic diseases ⚠
- p.Met65Ile Single submitter ⚠
- p.Met85Lys Single submitter ⚠
- p.Phe119Val Single submitter Inborn genetic diseases ⚠
- p.Phe220Leu Single submitter ⚠
- p.Phe221Leu Single submitter short stature due to GHSR deficiency ⚠
- p.Phe270Val Single submitter ⚠
- p.Phe340Leu Single submitter ⚠
- p.Phe38Tyr Single submitter ⚠
- p.Phe93Cys Single submitter ⚠
- p.Phe93Ser Single submitter ⚠
- p.Pro10Gln Single submitter ⚠
- p.Pro177Ser Single submitter ⚠
- p.Pro192Leu Single submitter ⚠
- p.Pro224Ala Single submitter ⚠
- p.Pro278Thr Single submitter ⚠
- p.Pro292Ser Single submitter ⚠
- p.Ser123Arg Single submitter Inborn genetic diseases ⚠
- p.Ser125Arg Single submitter ⚠
- p.Ser233fs Single submitter
- p.Ser289Phe Single submitter ⚠
- p.Ser344Phe Single submitter Inborn genetic diseases ⚠
- p.Ser349fs Single submitter
- p.Ser355Arg Single submitter ⚠
- p.Ser355Ile Single submitter ⚠
- p.Ser363Asn Single submitter ⚠
- p.Ser7Arg Single submitter ⚠
- p.Ser7Gly Single submitter ⚠
- p.Ser88Tyr Single submitter ⚠
- p.Thr135fs Single submitter
- p.Thr195Pro Single submitter
- p.Thr201Asn Single submitter ⚠
- p.Thr201Ile Single submitter ⚠
- p.Thr350Ser Single submitter ⚠
- p.Thr47Ile Single submitter ⚠
- p.Thr5Lys Single submitter ⚠
- p.Thr5Met Single submitter Inborn genetic diseases ⚠
- p.Thr78Asn Single submitter ⚠
- p.Trp193fs Single submitter short stature due to GHSR deficiency
- p.Trp215Arg Single submitter ⚠
- p.Trp2Arg Single submitter Inborn genetic diseases
- p.Tyr313Cys Single submitter ⚠
- p.Tyr313His Single submitter Inborn genetic diseases ⚠
- p.Val122Ile Single submitter Inborn genetic diseases ⚠
- p.Val170Met Single submitter ⚠
- p.Val214Leu Single submitter
- p.Val249Leu Single submitter ⚠
- p.Val268Met Single submitter ⚠
- p.Val281Ile Single submitter ⚠
- p.Val332Leu Single submitter short stature due to GHSR deficiency ⚠
- p.Val51Leu Single submitter ⚠
- p.Val55Met Single submitter GHSR-related disorder ⚠
- p.Val56Met Single submitter ⚠
- p.Val67Ala Single submitter ⚠
- p.Val68Ala Single submitter Inborn genetic diseases ⚠
- p.Asp32Glu No assertion criteria ⚠
- p.Gly245Ser No assertion criteria ⚠
- p.Phe222del No assertion criteria GHSR-related disorder
- p.Phe309Ile No assertion criteria pseudohypoparathyroidism type 1B ⚠