Total 45 pathogenic variants reported for Laron-type isolated somatotropin defect 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000163.5(GHR):c.341T>C (p.Phe114Ser) SNV
Germline		 Chr5:42694991 Pathogenic Laron-type isolated somatotropin defect No Assertion Criteria Provided
 CA119790 rs_121909357

1 SubmittersRCV000009164
NM_000163.5(GHR):c.181C>T (p.Arg61Ter) SNV
Germline		 Chr5:42688934 Pathogenic Laron-type isolated somatotropin defect
Condition: not provided
Laron-type isolated somatotropin defect
Short stature due to partial GHR deficiency
Hypercholesterolemia, familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119791 rs_121909358

4 SubmittersRCV000009165RCV002512933RCV005031429
NM_000163.5(GHR):c.168C>A (p.Cys56Ter) SNV
Germline		 Chr5:42688921 Pathogenic/Likely pathogenic Laron-type isolated somatotropin defect
Condition: not provided
Growth hormone insensitivity syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119793 rs_121909359

5 SubmittersRCV000009166RCV003764539RCV003317031
NM_000163.5(GHR):c.594A>G (p.Glu198=) SNV
Germline		 Chr5:42699978 Pathogenic Laron-type isolated somatotropin defect
Condition: not provided
Hypercholesterolemia, familial, 1
Short stature due to partial GHR deficiency
Laron-type isolated somatotropin defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119795 rs_121909360

4 SubmittersRCV000009167RCV002512934RCV005031430
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) SNV
Germline		 Chr5:42699919 Conflicting classifications of pathogenicity Short stature due to partial GHR deficiency
Condition: not provided
Short stature due to partial GHR deficiency
Laron-type isolated somatotropin defect
Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to partial GHR deficiency
Laron-type isolated somatotropin defect
Hypercholesterolemia, familial, 1
Laron-type isolated somatotropin defect
not specified
GHR-related disorder		 Criteria Provided
Conflicting Classifications
 CA119799 rs_121909362

10 SubmittersRCV000009169RCV000723957RCV000660368RCV000764609RCV001156022RCV003478972RCV003398475
NM_000163.5(GHR):c.703C>T (p.Arg235Ter) SNV
Germline		 Chr5:42711291 Pathogenic Condition: not provided
Laron-type isolated somatotropin defect
Hypercholesterolemia, familial, 1
Short stature due to partial GHR deficiency
Laron-type isolated somatotropin defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119802 rs_121909363

7 SubmittersRCV000760385RCV000009171RCV005031431
NM_000163.5(GHR):c.266+1G>A SNV
Germline		 Chr5:42689020 Pathogenic Laron-type isolated somatotropin defect Criteria Provided
Single Submitter
 CA118047017 rs_1009412984

2 SubmittersRCV000009172
NM_000163.5(GHR):c.619-1G>T SNV
Germline		 Chr5:42711206 Pathogenic Laron-type isolated somatotropin defect No Assertion Criteria Provided
 CA212900 rs_730880281

1 SubmittersRCV000009174
NM_000163.5(GHR):c.515A>C (p.Gln172Pro) SNV
Germline		 Chr5:42699899 Pathogenic Laron-type isolated somatotropin defect No Assertion Criteria Provided
 CA119804 rs_121909368

1 SubmittersRCV000009177
NM_000163.5(GHR):c.518T>G (p.Val173Gly) SNV
Germline		 Chr5:42699902 Pathogenic Laron-type isolated somatotropin defect Criteria Provided
Single Submitter
 CA119807 rs_121909369

2 SubmittersRCV000009180
NM_000163.5(GHR):c.484G>A (p.Val162Ile) SNV
Germline		 Chr5:42699868 Conflicting classifications of pathogenicity Short stature due to partial GHR deficiency
Condition: not provided
Laron-type isolated somatotropin defect		 Criteria Provided
Conflicting Classifications
 CA119809 rs_6413484

5 SubmittersRCV000009184RCV000711804RCV000987521
NM_000163.5(GHR):c.508G>C (p.Asp170His) SNV
Germline		 Chr5:42699892 Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA119811 rs_121909366

6 SubmittersRCV000009185RCV002508773
NM_000163.5(GHR):c.512T>C (p.Ile171Thr) SNV
Germline		 Chr5:42699896 Likely pathogenic Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Single Submitter
 CA119812 rs_121909367

2 SubmittersRCV000009186RCV003322747
NM_000163.5(GHR):c.618+792A>G SNV
Germline		 Chr5:42700794 Pathogenic/Likely pathogenic Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118048339 rs_1011727375

4 SubmittersRCV000009187RCV001851754
NM_000163.5(GHR):c.102G>A (p.Trp34Ter) SNV
Germline		 Chr5:42629069 Pathogenic Laron-type isolated somatotropin defect
Growth hormone insensitivity syndrome		 Criteria Provided
Single Submitter
 CA119813 rs_121909370

2 SubmittersRCV000009189RCV003398476
NM_000163.5(GHR):c.303C>A (p.Cys101Ter) SNV
Germline		 Chr5:42694953 Pathogenic Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Single Submitter
 CA119815 rs_121909371

2 SubmittersRCV000009191RCV002276541
NM_000163.5(GHR):c.335G>C (p.Cys112Ser) SNV
Germline		 Chr5:42694985 Pathogenic Laron-type isolated somatotropin defect No Assertion Criteria Provided
 CA119817 rs_121909372

1 SubmittersRCV000009194
NM_000163.5(GHR):c.504T>G (p.His168Gln) SNV
Germline		 Chr5:42699888 Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA119819 rs_121909373

4 SubmittersRCV000009195RCV001762040RCV005237362
NM_000163.5(GHR):c.718T>C (p.Tyr240His) SNV
Germline		 Chr5:42711306 Conflicting classifications of pathogenicity Condition: not provided
Laron-type isolated somatotropin defect
7 conditions
Short stature due to partial GHR deficiency
Laron-type isolated somatotropin defect
Short stature due to partial GHR deficiency		 Criteria Provided
Conflicting Classifications
 CA247036 rs_143814221

6 SubmittersRCV000179726RCV000581226RCV000626627RCV001198886RCV003448279
NM_000163.5(GHR):c.686G>A (p.Arg229His) SNV
Germline		 Chr5:42711274 Conflicting classifications of pathogenicity not specified
Short stature due to partial GHR deficiency
Condition: not provided
Laron-type isolated somatotropin defect		 Criteria Provided
Conflicting Classifications
 CA3254474 rs_6177

5 SubmittersRCV000292438RCV000660599RCV000724936RCV001156023
NM_000163.5(GHR):c.876-15T>G SNV
Germline		 Chr5:42718037 Conflicting classifications of pathogenicity Condition: not provided
Laron-type isolated somatotropin defect
not specified		 Criteria Provided
Conflicting Classifications
 CA3254537 rs_199960137

3 SubmittersRCV002061286RCV000402089RCV004782371
NM_000163.5(GHR):c.273T>A (p.Thr91=) SNV
Germline		 Chr5:42694923 Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3254374 rs_138491809

4 SubmittersRCV000284817RCV000911159
NM_000163.5(GHR):c.206C>T (p.Thr69Ile) SNV
Germline		 Chr5:42688959 Conflicting classifications of pathogenicity Condition: not provided
Laron-type isolated somatotropin defect
not specified		 Criteria Provided
Conflicting Classifications
 CA3254351 rs_75028043

3 SubmittersRCV000872811RCV000377004RCV003155171
NM_000163.5(GHR):c.875+10G>C SNV
Germline		 Chr5:42713529 Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3254516 rs_35111599

2 SubmittersRCV000336217RCV000917236
NM_000163.5(GHR):c.281G>A (p.Trp94Ter) SNV
Germline		 Chr5:42694931 Pathogenic Laron-type isolated somatotropin defect No Assertion Criteria Provided
 CA16609443 rs_1060499692

1 SubmittersRCV000449581
NM_000163.5(GHR):c.945G>A (p.Lys315=) SNV
Germline		 Chr5:42718121 Pathogenic Laron-type isolated somatotropin defect Criteria Provided
Single Submitter
 CA443805565 rs_1554040858

1 SubmittersRCV000582894
NM_000163.5(GHR):c.99C>G (p.Pro33=) SNV
Germline		 Chr5:42629066 Conflicting classifications of pathogenicity not specified
Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3254311 rs_76183160

4 SubmittersRCV000729316RCV001153427RCV000872631
NM_000163.5(GHR):c.1146C>T (p.Gly382=) SNV
Germline		 Chr5:42718653 Conflicting classifications of pathogenicity Condition: not provided
Laron-type isolated somatotropin defect		 Criteria Provided
Conflicting Classifications
 CA3254602 rs_533441671

2 SubmittersRCV000890270RCV001152250
NM_000163.5(GHR):c.82A>G (p.Ile28Val) SNV
Germline		 Chr5:42629049 Conflicting classifications of pathogenicity Condition: not provided
Laron-type isolated somatotropin defect
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3254307 rs_143287692

3 SubmittersRCV000913004RCV001153426RCV003169291
NM_000163.5(GHR):c.344A>C (p.Asn115Thr) SNV
Germline		 Chr5:42694994 Pathogenic/Likely pathogenic Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359695162 rs_1579626395

2 SubmittersRCV000995550RCV005093002
NM_000163.5(GHR):c.267-2A>G SNV
Germline		 Chr5:42694915 Pathogenic/Likely pathogenic Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359694972 rs_1757597156

2 SubmittersRCV001078202RCV003688898
NM_000163.5(GHR):c.486C>T (p.Val162=) SNV
Germline		 Chr5:42699870 Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3254419 rs_773964952

2 SubmittersRCV001156021RCV002070920
NM_000163.5(GHR):c.814A>G (p.Ile272Val) SNV
Germline		 Chr5:42713458 Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3254508 rs_35040971

3 SubmittersRCV001157740RCV001759914
NM_000163.5(GHR):c.1002C>T (p.Pro334=) SNV
Germline		 Chr5:42718509 Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3254578 rs_148387362

2 SubmittersRCV001157741RCV002070943
NM_000163.5(GHR):c.267-3T>C SNV
Germline		 Chr5:42694914 Conflicting classifications of pathogenicity Condition: not provided
Laron-type isolated somatotropin defect
not specified		 Criteria Provided
Conflicting Classifications
 CA3254373 rs_201917287

5 SubmittersRCV001572965RCV001153429RCV005437006
NM_000163.5(GHR):c.440-7T>C SNV
Germline		 Chr5:42699817 Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3254411 rs_371700718

2 SubmittersRCV001153430RCV003769734
NM_000163.5(GHR):c.70+5G>A SNV
Germline		 Chr5:42565949 Likely pathogenic Laron-type isolated somatotropin defect Criteria Provided
Single Submitter
 CA2573052511 rs_2112477601

1 SubmittersRCV001805740
NM_000163.5(GHR):c.784+6A>G SNV
Germline		 Chr5:42711378 Conflicting classifications of pathogenicity Condition: not provided
Hypercholesterolemia, familial, 1
Laron-type isolated somatotropin defect		 Criteria Provided
Conflicting Classifications
 CA3254488 rs_201032284

2 SubmittersRCV001953209RCV004728976
NM_000163.5(GHR):c.484G>T (p.Val162Phe) SNV
Germline		 Chr5:42699868 Conflicting classifications of pathogenicity Condition: not provided
Short stature due to partial GHR deficiency
Hypercholesterolemia, familial, 1
Laron-type isolated somatotropin defect
not specified		 Criteria Provided
Conflicting Classifications
 CA3254418 rs_6413484

3 SubmittersRCV001946003RCV002491956RCV005438114
NM_000163.5(GHR):c.335G>T (p.Cys112Phe) SNV
Germline		 Chr5:42694985 Pathogenic Condition: not provided
Laron-type isolated somatotropin defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359695141 rs_121909372

2 SubmittersRCV003555189RCV004813231