GHR — 607 ClinVar variants
All ClinVar germline GHR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 231 flagged for review →
46 Pathogenic · 7 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 38 Conflicting · 36 Benign · 11 Benign/Likely benign · 190 Likely benign · 269 Uncertain significance
Full GHR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 231
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- GHR p.Arg179His Conflicting Single submitter
-
GHR p.Asn323Ser
Conflicting
Single submitter
Inborn genetic diseases
-
GHR p.Asn402Ser
Conflicting
Single submitter
Inborn genetic diseases
-
GHR p.Asp369Glu
Conflicting
Single submitter
Inborn genetic diseases
-
GHR p.Glu242Asp
Conflicting
Single submitter
short stature due to partial GHR deficiency
-
GHR p.Gly134Asp
Conflicting
Single submitter
Inborn genetic diseases
-
GHR p.His168Pro
Conflicting
Single submitter
Laron syndrome
-
GHR p.Ile171Thr
Conflicting
Single submitter
Laron syndrome
-
GHR p.Ile210Val
Conflicting
Single submitter
Inborn genetic diseases
-
GHR p.Ile272Val
Conflicting
Single submitter
Laron syndrome
-
GHR p.Ile28Val
Conflicting
Single submitter
Laron syndrome
-
GHR p.Met530Thr
Conflicting
Single submitter
Inborn genetic diseases
-
GHR p.Thr69Ile
Conflicting
Single submitter
Laron syndrome
-
GHR p.Tyr240His
Conflicting
Single submitter
Laron syndrome
- GHR p.Val136Leu Conflicting Single submitter
-
GHR p.Val162Ile
Conflicting
Single submitter
Laron syndrome
Predictors lean, ClinVar uncertain 183
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 183
- GHR p.Ala11Ser Uncertain significance Multiple submitters
-
GHR p.Ala401Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Ala421Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Ala496Thr
Uncertain significance
Multiple submitters
GHR-related disorder
- GHR p.Arg386Cys Uncertain significance Multiple submitters
-
GHR p.Arg386His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Arg61Gln
Uncertain significance
Multiple submitters
Laron syndrome
-
GHR p.Asn402Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Asp354Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Asp363Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Asp618Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Glu242Lys
Uncertain significance
Multiple submitters
Laron syndrome
- GHR p.Glu261Lys Uncertain significance Multiple submitters
-
GHR p.Glu335Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GHR p.Glu537Lys Uncertain significance Multiple submitters
-
GHR p.Gly186Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Gly510Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Gly582Glu
Uncertain significance
Multiple submitters
Laron syndrome
-
GHR p.His370Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.His405Pro
Uncertain significance
Multiple submitters
short stature due to partial GHR deficiency
-
GHR p.Ile121Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Ile123Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Ile567Phe
Uncertain significance
Multiple submitters
Laron syndrome
-
GHR p.Leu220Phe
Uncertain significance
Multiple submitters
Laron syndrome
-
GHR p.Ser16Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GHR p.Ser447Gly Uncertain significance Multiple submitters
-
GHR p.Trp342Arg
Uncertain significance
Multiple submitters
Laron syndrome
- GHR p.Tyr196Ser Uncertain significance Multiple submitters
-
GHR p.Tyr248Cys
Uncertain significance
Multiple submitters
Laron syndrome
-
GHR p.Tyr248Ser
Uncertain significance
Multiple submitters
GHR-related disorder
-
GHR p.Val246Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Val72Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Ala107Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Ala18Thr Uncertain significance Single submitter
- GHR p.Ala412Ser Uncertain significance Single submitter
- GHR p.Ala439Val Uncertain significance Single submitter
-
GHR p.Ala470Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Ala496Ser Uncertain significance Single submitter
- GHR p.Ala547Pro Uncertain significance Single submitter
-
GHR p.Ala547Val
Uncertain significance
Single submitter
Laron syndrome
-
GHR p.Ala611Val
Uncertain significance
Single submitter
Laron syndrome
- GHR p.Arg229Gly Uncertain significance Single submitter
-
GHR p.Arg235Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHR p.Arg416Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHR p.Arg578Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Arg578Trp Uncertain significance Single submitter
- GHR p.Asn110Ile Uncertain significance Single submitter
-
GHR p.Asn180Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHR p.Asn200Ser
Uncertain significance
Single submitter
Laron syndrome
- GHR p.Asn402Lys Uncertain significance Single submitter
-
GHR p.Asn46Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Asn610Ser Uncertain significance Single submitter
-
GHR p.Asn78Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHR p.Asp103Glu
Uncertain significance
Single submitter
Laron syndrome
- GHR p.Asp208Gly Uncertain significance Single submitter
-
GHR p.Asp2Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Asp330Val Uncertain significance Single submitter
- GHR p.Asp339Gly Uncertain significance Single submitter
-
GHR p.Asp393Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHR p.Asp398Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Asp427Val Uncertain significance Single submitter
- GHR p.Asp515Gly Uncertain significance Single submitter
- GHR p.Asp564Asn Uncertain significance Single submitter
- GHR p.Cys389Ser Uncertain significance Single submitter
- GHR p.Cys390Arg Uncertain significance Single submitter
- GHR p.Cys390Ser Uncertain significance Single submitter
-
GHR p.Cys425Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Cys425Tyr Uncertain significance Single submitter
- GHR p.Cys514Phe Uncertain significance Single submitter
-
GHR p.Cys514Tyr
Uncertain significance
Single submitter
Laron syndrome
- GHR p.Gln184His Uncertain significance Single submitter
- GHR p.Gln234Leu Uncertain significance Single submitter
- GHR p.Gln253Lys Uncertain significance Single submitter
- GHR p.Gln415Arg Uncertain significance Single submitter
- GHR p.Gln457His Uncertain significance Single submitter
- GHR p.Gln469His Uncertain significance Single submitter
- GHR p.Gln525Arg Uncertain significance Single submitter
- GHR p.Glu176Gly Uncertain significance Single submitter
- GHR p.Glu201Gly Uncertain significance Single submitter
-
GHR p.Glu23Gly
Uncertain significance
Single submitter
Laron syndrome
- GHR p.Glu260Asp Uncertain significance Single submitter
- GHR p.Glu320Gly Uncertain significance Single submitter
- GHR p.Glu355Lys Uncertain significance Single submitter
- GHR p.Glu371Gln Uncertain significance Single submitter
-
GHR p.Glu406Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHR p.Glu452Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Glu465Lys Uncertain significance Single submitter
-
GHR p.Glu537Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Glu553Lys Uncertain significance Single submitter
- GHR p.Glu93Ala Uncertain significance Single submitter
- GHR p.Gly241Ser Uncertain significance Single submitter
-
GHR p.Gly274Glu
Uncertain significance
Single submitter
hypercholesterolemia, familial, 1
-
GHR p.Gly308Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Gly317Glu Uncertain significance Single submitter
- GHR p.Gly378Glu Uncertain significance Single submitter
- GHR p.Gly382Cys Uncertain significance Single submitter
- GHR p.Gly407Asp Uncertain significance Single submitter
-
GHR p.Gly504Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Gly587Arg Uncertain significance Single submitter
- GHR p.His370Gln Uncertain significance Single submitter
- GHR p.His405Arg Uncertain significance Single submitter
- GHR p.His549Arg Uncertain significance Single submitter
-
GHR p.His555Arg
Uncertain significance
Single submitter
Laron syndrome
- GHR p.His599Asn Uncertain significance Single submitter
- GHR p.His74Arg Uncertain significance Single submitter
- GHR p.Ile127Val Uncertain significance Single submitter
- GHR p.Ile153Thr Uncertain significance Single submitter
- GHR p.Ile271Phe Uncertain significance Single submitter
- GHR p.Ile271Thr Uncertain significance Single submitter
-
GHR p.Ile473Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Ile473Val Uncertain significance Single submitter
-
GHR p.Ile484Met
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Ile544Val Uncertain significance Single submitter
- GHR p.Ile556Leu Uncertain significance Single submitter
-
GHR p.Ile565Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Ile600Thr Uncertain significance Single submitter
- GHR p.Ile636Leu Uncertain significance Single submitter
- GHR p.Ile82Lys Uncertain significance Single submitter
- GHR p.Leu164Ser Uncertain significance Single submitter
- GHR p.Leu247Phe Uncertain significance Single submitter
- GHR p.Leu268Phe Uncertain significance Single submitter
- GHR p.Leu268Pro Uncertain significance Single submitter
- GHR p.Leu286Ser Uncertain significance Single submitter
- GHR p.Leu366Arg Uncertain significance Single submitter
-
GHR p.Leu426Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Leu481Pro Uncertain significance Single submitter
- GHR p.Leu616Phe Uncertain significance Single submitter
- GHR p.Leu622Phe Uncertain significance Single submitter
- GHR p.Leu79Pro Uncertain significance Single submitter
- GHR p.Lys429Met Uncertain significance Single submitter
-
GHR p.Lys44Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHR p.Lys508Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Lys551Glu Uncertain significance Single submitter
-
GHR p.Lys635Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Phe19Ser Uncertain significance Single submitter
- GHR p.Phe276Leu Uncertain significance Single submitter
-
GHR p.Phe276Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHR p.Phe287Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Phe336Leu Uncertain significance Single submitter
- GHR p.Pro102Leu Uncertain significance Single submitter
-
GHR p.Pro149Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Pro216Ala Uncertain significance Single submitter
- GHR p.Pro300Leu Uncertain significance Single submitter
- GHR p.Pro33Arg Uncertain significance Single submitter
- GHR p.Pro414Thr Uncertain significance Single submitter
- GHR p.Pro441Leu Uncertain significance Single submitter
- GHR p.Pro478Ala Uncertain significance Single submitter
- GHR p.Pro615Thr Uncertain significance Single submitter
- GHR p.Ser131Asn Uncertain significance Single submitter
- GHR p.Ser142Pro Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
-
GHR p.Arg57His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Asp137His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Asp492His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Glu193Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Gly166Glu
Uncertain significance
Multiple submitters
short stature due to partial GHR deficiency
-
GHR p.Phe265Leu
Uncertain significance
Multiple submitters
Monogenic short statue
-
GHR p.Pro151Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHR p.Pro299Ser
Uncertain significance
Multiple submitters
short stature due to partial GHR deficiency
-
GHR p.Arg179Cys
Conflicting
Single submitter
GHR-related disorder
-
GHR p.Arg229His
Conflicting
Single submitter
Laron syndrome
-
GHR p.Arg57Cys
Uncertain significance
Single submitter
Laron syndrome
-
GHR p.Asp144Val
Uncertain significance
Single submitter
short stature due to partial GHR deficiency
- GHR p.Asp485Glu Uncertain significance Single submitter
- GHR p.Glu344Asp Uncertain significance Single submitter
-
GHR p.Glu62Lys
Conflicting
Single submitter
growth hormone insensitivity syndrome
- GHR p.Glu97Lys Uncertain significance Single submitter
- GHR p.Gly80Glu Uncertain significance Single submitter
- GHR p.Gly80Val Conflicting Single submitter
-
GHR p.His168Gln
Conflicting
Single submitter
Laron syndrome
- GHR p.Ile121Thr Uncertain significance Single submitter
-
GHR p.Ile325Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Lys619Thr Uncertain significance Single submitter
- GHR p.Phe19Leu Uncertain significance Single submitter
- GHR p.Pro51Thr Uncertain significance Single submitter
-
GHR p.Ser341Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GHR p.Tyr192His Uncertain significance Single submitter
- GHR p.Tyr218Cys Uncertain significance Single submitter
-
GHR p.Val162Phe
Conflicting
Single submitter
short stature due to partial GHR deficiency
- GHR p.Val217Gly Uncertain significance Single submitter
- GHR p.Val249Ala Uncertain significance Single submitter
-
GHR p.Arg292Thr
Pathogenic
No assertion criteria
Laron syndrome with elevated serum GH-binding protein
All GHR variants
Pathogenic 46
- p.Arg235Ter Multiple submitters hypercholesterolemia, familial, 1
- p.Arg61Ter Multiple submitters short stature due to partial GHR deficiency
- p.Cys112Phe Multiple submitters Laron syndrome
- p.Cys56Ter Multiple submitters growth hormone insensitivity syndrome
- p.Glu198= Multiple submitters short stature due to partial GHR deficiency
- p.Ser65fs Multiple submitters Laron syndrome
- c.266+1G>A Single submitter Laron syndrome
- c.267-1155_333del Single submitter Laron syndrome
- c.618+1G>A Single submitter Laron syndrome
- c.619-1G>T Single submitter Laron syndrome
- c.619-2A>C Single submitter GHR-related disorder
- c.70+1G>T Single submitter
- c.876-1G>C Single submitter short stature due to partial GHR deficiency
- p.Asp262His Single submitter ⚠
- p.Cys101Ter Single submitter Laron syndrome
- p.Gln253_Met254insTer Single submitter Laron syndrome
- p.Gln253fs Single submitter
- p.Gln457Ter Single submitter
- p.Glu198Ter Single submitter GHR-related disorder
- p.Glu563Ter Single submitter
- p.Ile146fs Single submitter
- p.Leu247_Tyr248insTer Single submitter
- p.Leu523fs Single submitter
- p.Lys233Ter Single submitter
- p.Lys315= Single submitter Laron syndrome
- p.Met1Ile Single submitter
- p.Met1Val Single submitter
- p.Pro548fs Single submitter
- p.Trp187Ter Single submitter
- p.Trp267Ter Single submitter
- p.Trp34Ter Single submitter growth hormone insensitivity syndrome
- p.Trp4Ter Single submitter
- p.Trp68Ter Single submitter
- p.Tyr113fs Single submitter
- p.Tyr125fs Single submitter
- p.Val173Gly Single submitter Laron syndrome
- c.945+1G>A No assertion criteria Laron syndrome with elevated serum GH-binding protein
- p.Arg292Thr No assertion criteria Laron syndrome with elevated serum GH-binding protein ⚠
- p.Cys112Ser No assertion criteria Laron syndrome
- p.Gln172Pro No assertion criteria Laron syndrome
- p.Glu242Ter No assertion criteria Laron syndrome with undetectable serum GH-binding protein
- p.Ile328fs No assertion criteria Laron syndrome with undetectable serum GH-binding protein
- p.Phe114Ser No assertion criteria Laron syndrome
- p.Trp187Arg No assertion criteria short stature due to partial GHR deficiency
- p.Trp94Ter No assertion criteria Laron syndrome
- p.Tyr248fs No assertion criteria Laron syndrome
Pathogenic/Likely pathogenic 7
- c.266+83G>T Multiple submitters
- c.267-2A>G Multiple submitters Laron syndrome
- c.440-1G>A Multiple submitters short stature due to partial GHR deficiency
- c.618+792A>G Multiple submitters Laron syndrome
- p.Asn115Thr Multiple submitters Laron syndrome
- p.Asp170His Multiple submitters Monogenic short statue
- p.Leu159Ter Multiple submitters
Likely pathogenic 10
- c.266+68T>G Single submitter GHR-related disorder
- c.70+2T>C Single submitter
- c.70+5G>A Single submitter Laron syndrome
- c.875+5G>A Single submitter
- p.Arg578fs Single submitter Laron syndrome
- p.Cys112Arg Single submitter
- p.Pro149Gln Single submitter growth hormone insensitivity syndrome
- p.Ser244Ile Single submitter
- p.Ser65Pro Single submitter growth hormone insensitivity syndrome
- p.Trp187fs Single submitter
Conflicting classifications of pathogenicity 38
- c.267-3T>C Single submitter Laron syndrome
- c.440-7T>C Single submitter Laron syndrome
- c.784+6A>G Single submitter hypercholesterolemia, familial, 1
- c.876-15T>G Single submitter Laron syndrome
- c.-10T>C Single submitter Laron syndrome
- p.Arg179Cys Single submitter GHR-related disorder ⚠
- p.Arg179His Single submitter ⚠
- p.Arg229His Single submitter Laron syndrome ⚠
- p.Asn323Ser Single submitter Inborn genetic diseases ⚠
- p.Asn402Ser Single submitter Inborn genetic diseases ⚠
- p.Asp369Glu Single submitter Inborn genetic diseases ⚠
- p.Gln195= Single submitter
- p.Gln562= Single submitter
- p.Glu242Asp Single submitter short stature due to partial GHR deficiency ⚠
- p.Glu62Lys Single submitter growth hormone insensitivity syndrome ⚠
- p.Gly134Asp Single submitter Inborn genetic diseases ⚠
- p.Gly241= Single submitter Laron syndrome
- p.Gly382= Single submitter Laron syndrome
- p.Gly80Val Single submitter ⚠
- p.His168Gln Single submitter Laron syndrome ⚠
- p.His168Pro Single submitter Laron syndrome ⚠
- p.Ile171Thr Single submitter Laron syndrome ⚠
- p.Ile210Val Single submitter Inborn genetic diseases ⚠
- p.Ile272Val Single submitter Laron syndrome ⚠
- p.Ile28Val Single submitter Laron syndrome ⚠
- p.Met530Thr Single submitter Inborn genetic diseases ⚠
- p.Pro33= Single submitter Laron syndrome
- p.Pro334= Single submitter Laron syndrome
- p.Pro503Leu Single submitter Inborn genetic diseases
- p.Ser65= Single submitter
- p.Thr69Ile Single submitter Laron syndrome ⚠
- p.Thr91= Single submitter Laron syndrome
- p.Tyr240His Single submitter Laron syndrome ⚠
- p.Val136Leu Single submitter ⚠
- p.Val162= Single submitter Laron syndrome
- p.Val162Ile Single submitter Laron syndrome ⚠
- p.Val162Phe Single submitter short stature due to partial GHR deficiency ⚠
- p.Val601fs Single submitter
Benign 36
- c.137-35G>C Multiple submitters
- c.619-29C>T Multiple submitters
- c.70+120A>T Multiple submitters
- c.785-22G>A Multiple submitters
- c.945+112G>A Multiple submitters
- c.-11-123C>T Multiple submitters
- c.*1554G>A Multiple submitters Laron syndrome
- c.*1770G>C Multiple submitters Laron syndrome
- c.*1934T>C Multiple submitters Laron syndrome
- c.*300G>A Multiple submitters Laron syndrome
- p.Gly186= Multiple submitters Laron syndrome
- p.Ile544Leu Multiple submitters Laron syndrome
- p.Ser491= Multiple submitters Laron syndrome
- c.137-10del Single submitter
- c.266+419G>A Single submitter
- c.267-3dup Single submitter
- c.439+280G>A Single submitter
- c.618+1052G>A Single submitter
- c.618+13T>C Single submitter
- c.618+1882C>A Single submitter
- c.618+1920G>A Single submitter
- c.619-209G>A Single submitter
- c.785-58del Single submitter
- c.876-162A>G Single submitter
- c.946-133T>C Single submitter
- c.-12+217GT[26] Single submitter
- c.-12+217GT[27] Single submitter
- c.-39G>C Single submitter Laron syndrome
- c.*1790G>A Single submitter Laron syndrome
- c.*2294A>G Single submitter Laron syndrome
- c.*692C>A Single submitter Laron syndrome
- c.*693G>A Single submitter Laron syndrome
- c.*781T>A Single submitter Laron syndrome
- p.Cys543Arg Single submitter
- p.Lys541Arg Single submitter
- p.Val546Glu Single submitter
Benign/Likely benign 11
- c.267-17T>G Multiple submitters
- c.439+9C>T Multiple submitters
- c.619-28A>G Multiple submitters
- c.785-9G>A Multiple submitters Laron syndrome
- c.875+10G>C Multiple submitters
- p.Cys440Phe Multiple submitters Laron syndrome
- p.His584= Multiple submitters
- p.Leu366= Multiple submitters Laron syndrome
- p.Pro495Thr Multiple submitters Laron syndrome
- p.Pro579Thr Multiple submitters Laron syndrome
- p.Tyr332Cys Multiple submitters
Likely benign 190
- c.618+16A>C Multiple submitters
- c.946-9A>G Multiple submitters
- p.Ala488= Multiple submitters
- p.Asn527= Multiple submitters
- p.Asp182= Multiple submitters
- p.Asp351= Multiple submitters
- p.Cys514Trp Multiple submitters Laron syndrome
- p.Gly463Glu Multiple submitters
- p.Ile309= Multiple submitters
- p.Leu190= Multiple submitters
- p.Leu220= Multiple submitters
- p.Ser512= Multiple submitters
- p.Tyr534= Multiple submitters
- c.136+15C>A Single submitter
- c.136+15C>G Single submitter
- c.137-4G>A Single submitter
- c.137-7del Single submitter
- c.266+15C>A Single submitter
- c.266+17T>C Single submitter
- c.266+68T>C Single submitter
- c.266+74G>A Single submitter
- c.266+7C>A Single submitter
- c.266+9A>G Single submitter
- c.267-11C>T Single submitter
- c.267-9T>C Single submitter
- c.439+13T>G Single submitter
- c.439+17T>G Single submitter
- c.440-13T>A Single submitter
- c.440-19G>A Single submitter
- c.440-19G>C Single submitter
- c.440-4A>G Single submitter
- c.440-5C>T Single submitter
- c.618+11G>A Single submitter
- c.618+11G>T Single submitter
- c.618+12C>T Single submitter
- c.618+15C>T Single submitter
- c.618+17C>G Single submitter
- c.618+17C>T Single submitter
- c.618+18C>A Single submitter
- c.618+20T>C Single submitter
- c.618+7T>A Single submitter
- c.619-10G>A Single submitter
- c.619-17A>T Single submitter
- c.619-5G>A Single submitter
- c.70+19T>G Single submitter
- c.784+12A>G Single submitter
- c.784+16G>A Single submitter
- c.784+18T>C Single submitter
- c.784+7G>C Single submitter
- c.784+7G>T Single submitter
- c.785-11G>T Single submitter
- c.785-14C>T Single submitter
- c.785-15dup Single submitter
- c.875+10G>T Single submitter
- c.875+16T>C Single submitter
- c.875+9G>A Single submitter
- c.876-11_876-10del Single submitter
- c.876-13A>G Single submitter
- c.876-13A>T Single submitter
- c.945+18C>G Single submitter
- c.946-12T>C Single submitter
- c.946-14T>C Single submitter
- c.946-4C>G Single submitter
- c.946-5T>C Single submitter
- c.946-5T>G Single submitter
- c.946-7T>A Single submitter
- c.-12+646A>T Single submitter
- c.-7T>A Single submitter short stature due to partial GHR deficiency
- c.*1611G>A Single submitter Laron syndrome
- c.*1936T>C Single submitter Laron syndrome
- c.*2169C>T Single submitter Laron syndrome
- c.*836G>C Single submitter Laron syndrome
- p.Ala11= Single submitter
- p.Ala169= Single submitter
- p.Ala471= Single submitter
- p.Ala533= Single submitter
- p.Ala611= Single submitter
- p.Ala613= Single submitter
- p.Arg235= Single submitter
- p.Arg416= Single submitter
- p.Arg61= Single submitter
- p.Asn161= Single submitter
- p.Asn323= Single submitter
- p.Asn454= Single submitter
- p.Asp17= Single submitter
- p.Asp361= Single submitter
- p.Asp363= Single submitter
- p.Asp438= Single submitter
- p.Asp531= Single submitter
- p.Asp631= Single submitter
- p.Cys126= Single submitter
- p.Cys66= Single submitter
- p.Gln172= Single submitter
- p.Gln256= Single submitter
- p.Gln431= Single submitter
- p.Gln557= Single submitter
- p.Gln632= Single submitter
- p.Gln96= Single submitter
- p.Glu225= Single submitter
- p.Glu242= Single submitter
- p.Glu321= Single submitter
- p.Glu355= Single submitter
- p.Glu359= Single submitter
- p.Glu537= Single submitter
- p.Glu563= Single submitter
- p.Glu60= Single submitter
- p.Glu71= Single submitter
- p.Gly14= Single submitter
- p.Gly21= Single submitter
- p.Gly21Arg Single submitter
- p.Gly580= Single submitter
- p.Gly582= Single submitter
- p.Gly606= Single submitter
- p.His168= Single submitter
- p.His405= Single submitter
- p.His472= Single submitter
- p.His517= Single submitter
- p.His555= Single submitter
- p.Ile121= Single submitter
- p.Ile272= Single submitter
- p.Ile493= Single submitter
- p.Ile600= Single submitter
- p.Leu12= Single submitter
- p.Leu247= Single submitter
- p.Leu268= Single submitter
- p.Leu282= Single submitter
- p.Leu3= Single submitter
- p.Leu475= Single submitter
- p.Leu6= Single submitter
- p.Leu609= Single submitter
- p.Leu616= Single submitter
- p.Leu622= Single submitter
- p.Leu7= Single submitter
- p.Lys233= Single submitter
- p.Lys289= Single submitter
- p.Lys305= Single submitter
- p.Lys541= Single submitter
- p.Lys55= Single submitter
- p.Lys619= Single submitter
- p.Lys99= Single submitter
- p.Phe257= Single submitter
- p.Phe85= Single submitter
- p.Pro149= Single submitter
- p.Pro353= Single submitter
- p.Pro460= Single submitter
- p.Pro478= Single submitter
- p.Pro495= Single submitter
- p.Pro503= Single submitter
- p.Pro518= Single submitter
- p.Pro548= Single submitter
- p.Pro591= Single submitter
- p.Pro604= Single submitter
- p.Ser106= Single submitter
- p.Ser117= Single submitter
- p.Ser219= Single submitter
- p.Ser237= Single submitter
- p.Ser288= Single submitter
- p.Ser338= Single submitter
- p.Ser384= Single submitter
- p.Ser47= Single submitter
- p.Ser47Cys Single submitter
- p.Ser498= Single submitter
- p.Ser559= Single submitter
- p.Ser588= Single submitter
- p.Ser624= Single submitter
- p.Ser629= Single submitter
- p.Ter639= Single submitter
- p.Thr130= Single submitter
- p.Thr165= Single submitter
- p.Thr357= Single submitter
- p.Thr397= Single submitter
- p.Thr443= Single submitter
- p.Thr461= Single submitter
- p.Thr494= Single submitter
- p.Thr568= Single submitter
- p.Thr596= Single submitter
- p.Thr63= Single submitter
- p.Thr69= Single submitter
- p.Tyr125= Single submitter
- p.Tyr248= Single submitter
- p.Tyr566= Single submitter
- p.Tyr595= Single submitter
- p.Val147= Single submitter
- p.Val222= Single submitter
- p.Val228= Single submitter
- p.Val284= Single submitter
- p.Val322= Single submitter
- p.Val592= Single submitter
- p.Val601= Single submitter
- p.Val628= Single submitter
Uncertain significance 269
- c.-11-1G>C Multiple submitters
- p.Ala11Ser Multiple submitters ⚠
- p.Ala401Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala421Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ala488Val Multiple submitters
- p.Ala496Thr Multiple submitters GHR-related disorder ⚠
- p.Arg386Cys Multiple submitters ⚠
- p.Arg386His Multiple submitters Inborn genetic diseases ⚠
- p.Arg57His Multiple submitters Inborn genetic diseases ⚠
- p.Arg61Gln Multiple submitters Laron syndrome ⚠
- p.Asn402Ile Multiple submitters Inborn genetic diseases ⚠
- p.Asp137Glu Multiple submitters
- p.Asp137His Multiple submitters Inborn genetic diseases ⚠
- p.Asp354Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp363Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp492His Multiple submitters Inborn genetic diseases ⚠
- p.Asp618Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu193Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu242Lys Multiple submitters Laron syndrome ⚠
- p.Glu261Lys Multiple submitters ⚠
- p.Glu335Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu537Lys Multiple submitters ⚠
- p.Gly166Glu Multiple submitters short stature due to partial GHR deficiency ⚠
- p.Gly186Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly510Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly582Glu Multiple submitters Laron syndrome ⚠
- p.His370Arg Multiple submitters Inborn genetic diseases ⚠
- p.His405Pro Multiple submitters short stature due to partial GHR deficiency ⚠
- p.Ile121Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile123Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile567Phe Multiple submitters Laron syndrome ⚠
- p.Leu220Phe Multiple submitters Laron syndrome ⚠
- p.Phe265Leu Multiple submitters Monogenic short statue ⚠
- p.Pro151Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro299Ser Multiple submitters short stature due to partial GHR deficiency ⚠
- p.Ser16Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser447Gly Multiple submitters ⚠
- p.Thr568Ile Multiple submitters Inborn genetic diseases
- p.Trp342Arg Multiple submitters Laron syndrome ⚠
- p.Trp4Arg Multiple submitters
- p.Tyr196Ser Multiple submitters ⚠
- p.Tyr248Cys Multiple submitters Laron syndrome ⚠
- p.Tyr248Ser Multiple submitters GHR-related disorder ⚠
- p.Val246Met Multiple submitters Inborn genetic diseases ⚠
- p.Val499Met Multiple submitters Inborn genetic diseases
- p.Val72Ile Multiple submitters Inborn genetic diseases ⚠
- c.618+785G>C Single submitter
- c.619-22C>G Single submitter
- c.785-3C>T Single submitter
- c.876-10T>A Single submitter
- c.876-10T>G Single submitter
- c.945+4_945+5del Single submitter
- c.945+6T>C Single submitter
- c.-12+43621T>C Single submitter Laron syndrome
- c.-12+59281G>C Single submitter Laron syndrome
- c.-12+643G>A Single submitter short stature due to partial GHR deficiency
- c.-6A>G Single submitter Laron syndrome
- c.*1032T>C Single submitter Laron syndrome
- c.*1531G>A Single submitter Laron syndrome
- c.*1539G>A Single submitter Laron syndrome
- c.*154G>A Single submitter Laron syndrome
- c.*1689A>T Single submitter Laron syndrome
- c.*1747G>A Single submitter Laron syndrome
- c.*1797G>C Single submitter Laron syndrome
- c.*1847T>G Single submitter Laron syndrome
- c.*1892T>A Single submitter Laron syndrome
- c.*1916T>G Single submitter Laron syndrome
- c.*2018T>C Single submitter Laron syndrome
- c.*2042A>G Single submitter Laron syndrome
- c.*2292A>G Single submitter Laron syndrome
- c.*2376A>G Single submitter Laron syndrome
- c.*364C>T Single submitter Laron syndrome
- c.*36A>T Single submitter Laron syndrome
- c.*390A>G Single submitter Laron syndrome
- c.*461T>G Single submitter Laron syndrome
- c.*474C>A Single submitter Laron syndrome
- c.*534G>C Single submitter Laron syndrome
- c.*61C>T Single submitter Laron syndrome
- c.*629G>A Single submitter Laron syndrome
- c.*670T>C Single submitter Laron syndrome
- c.*724G>T Single submitter Laron syndrome
- c.*832G>A Single submitter Laron syndrome
- c.*913C>T Single submitter Laron syndrome
- c.*941A>G Single submitter Laron syndrome
- p.Ala107Ser Single submitter Inborn genetic diseases ⚠
- p.Ala18Thr Single submitter ⚠
- p.Ala412Ser Single submitter ⚠
- p.Ala439Val Single submitter ⚠
- p.Ala470Pro Single submitter Inborn genetic diseases ⚠
- p.Ala488_Gln489insHisIleAspPheTyrAla Single submitter
- p.Ala496Ser Single submitter ⚠
- p.Ala547Pro Single submitter ⚠
- p.Ala547Val Single submitter Laron syndrome ⚠
- p.Ala611Val Single submitter Laron syndrome ⚠
- p.Arg229Gly Single submitter ⚠
- p.Arg235Gln Single submitter Inborn genetic diseases ⚠
- p.Arg416Met Single submitter Inborn genetic diseases ⚠
- p.Arg578Lys Single submitter Inborn genetic diseases ⚠
- p.Arg578Trp Single submitter ⚠
- p.Arg57Cys Single submitter Laron syndrome ⚠
- p.Arg88= Single submitter
- p.Arg89= Single submitter
- p.Asn110Ile Single submitter ⚠
- p.Asn180Ser Single submitter Inborn genetic diseases ⚠
- p.Asn200Ser Single submitter Laron syndrome ⚠
- p.Asn402Lys Single submitter ⚠
- p.Asn46Ile Single submitter Inborn genetic diseases ⚠
- p.Asn561fs Single submitter
- p.Asn610Ser Single submitter ⚠
- p.Asn78Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp103Glu Single submitter Laron syndrome ⚠
- p.Asp144Val Single submitter short stature due to partial GHR deficiency ⚠
- p.Asp208Gly Single submitter ⚠
- p.Asp223_Lys224del Single submitter hypercholesterolemia, familial, 1
- p.Asp2Val Single submitter Inborn genetic diseases ⚠
- p.Asp330Val Single submitter ⚠
- p.Asp339Gly Single submitter ⚠
- p.Asp393Gly Single submitter Inborn genetic diseases ⚠
- p.Asp398Glu Single submitter Inborn genetic diseases ⚠
- p.Asp427Val Single submitter ⚠
- p.Asp485Glu Single submitter ⚠
- p.Asp515Gly Single submitter ⚠
- p.Asp564Asn Single submitter ⚠
- p.Cys389Ser Single submitter ⚠
- p.Cys390Arg Single submitter ⚠
- p.Cys390Ser Single submitter ⚠
- p.Cys425Arg Single submitter Inborn genetic diseases ⚠
- p.Cys425Tyr Single submitter ⚠
- p.Cys514Phe Single submitter ⚠
- p.Cys514Tyr Single submitter Laron syndrome ⚠
- p.Gln184His Single submitter ⚠
- p.Gln234Leu Single submitter ⚠
- p.Gln253Lys Single submitter ⚠
- p.Gln415Arg Single submitter ⚠
- p.Gln457His Single submitter ⚠
- p.Gln469His Single submitter ⚠
- p.Gln525Arg Single submitter ⚠
- p.Glu176Gly Single submitter ⚠
- p.Glu201Gly Single submitter ⚠
- p.Glu23Gly Single submitter Laron syndrome ⚠
- p.Glu260Asp Single submitter ⚠
- p.Glu320Gly Single submitter ⚠
- p.Glu344Asp Single submitter ⚠
- p.Glu344Gln Single submitter Inborn genetic diseases
- p.Glu355Lys Single submitter ⚠
- p.Glu371Gln Single submitter ⚠
- p.Glu406Gln Single submitter Inborn genetic diseases ⚠
- p.Glu452Asp Single submitter Inborn genetic diseases ⚠
- p.Glu465Lys Single submitter ⚠
- p.Glu537Gly Single submitter Inborn genetic diseases ⚠
- p.Glu553Lys Single submitter ⚠
- p.Glu563_Asp564insLeuAsnGlnGlu Single submitter
- p.Glu93Ala Single submitter ⚠
- p.Glu97Lys Single submitter ⚠
- p.Gly14Arg Single submitter
- p.Gly241Ser Single submitter ⚠
- p.Gly274Glu Single submitter hypercholesterolemia, familial, 1 ⚠
- p.Gly308Glu Single submitter Inborn genetic diseases ⚠
- p.Gly317Glu Single submitter ⚠
- p.Gly378Glu Single submitter ⚠
- p.Gly382Cys Single submitter ⚠
- p.Gly407Asp Single submitter ⚠
- p.Gly504Cys Single submitter Inborn genetic diseases ⚠
- p.Gly587Arg Single submitter ⚠
- p.Gly587fs Single submitter
- p.Gly626fs Single submitter
- p.Gly80Glu Single submitter ⚠
- p.His370Gln Single submitter ⚠
- p.His405Arg Single submitter ⚠
- p.His549Arg Single submitter ⚠
- p.His555Arg Single submitter Laron syndrome ⚠
- p.His599Asn Single submitter ⚠
- p.His599Leu Single submitter
- p.His74Arg Single submitter ⚠
- p.Ile121Thr Single submitter ⚠
- p.Ile127Val Single submitter ⚠
- p.Ile153Thr Single submitter ⚠
- p.Ile271Phe Single submitter ⚠
- p.Ile271Thr Single submitter ⚠
- p.Ile325Thr Single submitter Inborn genetic diseases ⚠
- p.Ile449fs Single submitter
- p.Ile473Asn Single submitter Inborn genetic diseases ⚠
- p.Ile473Val Single submitter ⚠
- p.Ile484Met Single submitter Inborn genetic diseases ⚠
- p.Ile544Val Single submitter ⚠
- p.Ile556Leu Single submitter ⚠
- p.Ile565Thr Single submitter Inborn genetic diseases ⚠
- p.Ile600Thr Single submitter ⚠
- p.Ile636Leu Single submitter ⚠
- p.Ile82Lys Single submitter ⚠
- p.Leu164Ser Single submitter ⚠
- p.Leu247Phe Single submitter ⚠
- p.Leu268Phe Single submitter ⚠
- p.Leu268Pro Single submitter ⚠
- p.Leu286Ser Single submitter ⚠
- p.Leu365Phe Single submitter
- p.Leu366Arg Single submitter ⚠
- p.Leu426Pro Single submitter Inborn genetic diseases ⚠
- p.Leu481Pro Single submitter ⚠
- p.Leu616Phe Single submitter ⚠
- p.Leu622Phe Single submitter ⚠
- p.Leu633= Single submitter Laron syndrome
- p.Leu79Pro Single submitter ⚠
- p.Lys429Met Single submitter ⚠
- p.Lys44Asn Single submitter Inborn genetic diseases ⚠
- p.Lys508Thr Single submitter Inborn genetic diseases ⚠
- p.Lys551Glu Single submitter ⚠
- p.Lys619Thr Single submitter ⚠
- p.Lys635Glu Single submitter Inborn genetic diseases ⚠
- p.Phe19Leu Single submitter ⚠
- p.Phe19Ser Single submitter ⚠
- p.Phe276Leu Single submitter ⚠
- p.Phe276Ser Single submitter Inborn genetic diseases ⚠
- p.Phe287Val Single submitter Inborn genetic diseases ⚠
- p.Phe336Leu Single submitter ⚠
- p.Pro102Leu Single submitter ⚠
- p.Pro149Ala Single submitter Inborn genetic diseases ⚠
- p.Pro216Ala Single submitter ⚠
- p.Pro300Leu Single submitter ⚠
- p.Pro304fs Single submitter
- p.Pro33Arg Single submitter ⚠
- p.Pro414Thr Single submitter ⚠
- p.Pro441Leu Single submitter ⚠
- p.Pro478Ala Single submitter ⚠
- p.Pro51Thr Single submitter ⚠
- p.Pro579fs Single submitter
- p.Pro615Thr Single submitter ⚠
- p.Ser131Asn Single submitter ⚠
- p.Ser142Pro Single submitter ⚠
- p.Ser219Pro Single submitter Laron syndrome ⚠
- p.Ser338Thr Single submitter ⚠
- p.Ser341Pro Single submitter Inborn genetic diseases ⚠
- p.Ser367Gly Single submitter ⚠
- p.Ser388Arg Single submitter ⚠
- p.Ser554Pro Single submitter Inborn genetic diseases ⚠
- p.Ser624Leu Single submitter Inborn genetic diseases ⚠
- p.Thr202Ala Single submitter ⚠
- p.Thr250Ala Single submitter ⚠
- p.Thr357Ser Single submitter ⚠
- p.Thr54Ser Single submitter ⚠
- p.Thr568Ala Single submitter ⚠
- p.Thr569fs Single submitter hypercholesterolemia, familial, 1
- p.Thr573Ile Single submitter ⚠
- p.Thr581Ile Single submitter ⚠
- p.Thr581Pro Single submitter ⚠
- p.Thr76= Single submitter
- p.Thr9Ala Single submitter ⚠
- p.Trp122Arg Single submitter Laron syndrome ⚠
- p.Trp342Cys Single submitter Inborn genetic diseases ⚠
- p.Trp342Leu Single submitter Laron syndrome ⚠
- p.Trp94Arg Single submitter Inborn genetic diseases ⚠
- p.Trp98Gly Single submitter Laron syndrome ⚠
- p.Tyr104Cys Single submitter Laron syndrome ⚠
- p.Tyr113Cys Single submitter ⚠
- p.Tyr113Ser Single submitter ⚠
- p.Tyr192His Single submitter ⚠
- p.Tyr218Cys Single submitter ⚠
- p.Tyr226Cys Single submitter Laron syndrome ⚠
- p.Tyr264His Single submitter Inborn genetic diseases ⚠
- p.Tyr534Cys Single submitter Laron syndrome ⚠
- p.Tyr566Cys Single submitter ⚠
- p.Val147Ala Single submitter ⚠
- p.Val217Gly Single submitter ⚠
- p.Val222Ala Single submitter ⚠
- p.Val249Ala Single submitter ⚠
- p.Val500Ile Single submitter Inborn genetic diseases ⚠
- p.Val521Phe Single submitter ⚠
- p.Val585Ile Single submitter ⚠
- p.Trp4Cys No assertion criteria Laron syndrome ⚠