NM_000163.5(GHR):c.703C>T (p.Arg235Ter)Pathogenic
Laron-type isolated somatotropin defect|not provided|Short stature due to partial GHR deficiency;Hypercholesterolemia, familial, 1;Laron-type isolated somatotropin defect
β
β
ββ2026β Residue 235
NM_000163.5(GHR):c.266+83G>TPathogenic
not provided
β
β
ββ2026
NM_000163.5(GHR):c.618+792A>GPathogenic
Laron-type isolated somatotropin defect|not provided|Growth hormone insensitivity syndrome
β
β
ββ2025
NM_000163.5(GHR):c.440-1G>APathogenic
not provided
β
β
ββ2025
NM_000163.5(GHR):c.476T>A (p.Leu159Ter)Pathogenic
See cases|not provided
β
β
ββ2025β Residue 159
NM_000163.5(GHR):c.335G>T (p.Cys112Phe)Pathogenic
not provided|Laron-type isolated somatotropin defect
β
β
ββ2024β Residue 112
NM_000163.5(GHR):c.594A>G (p.Glu198=)Pathogenic
Laron-type isolated somatotropin defect|not provided|Short stature due to partial GHR deficiency;Hypercholesterolemia, familial, 1;Laron-type isolated somatotropin defect
β
β
ββ2024β Residue 198
NM_000163.5(GHR):c.344A>C (p.Asn115Thr)Pathogenic
Laron-type isolated somatotropin defect|not provided
β
β
ββ2024β Residue 115
NM_000163.5(GHR):c.192_193del (p.Ser65fs)Pathogenic
not provided|Laron-type isolated somatotropin defect|Growth hormone insensitivity syndrome
β
β
ββ2024β Residue 65
NM_000163.5(GHR):c.181C>T (p.Arg61Ter)Pathogenic
Laron-type isolated somatotropin defect|not provided|Short stature due to partial GHR deficiency;Hypercholesterolemia, familial, 1;Laron-type isolated somatotropin defect
β
β
ββ2024β Residue 61
NM_000163.5(GHR):c.168C>A (p.Cys56Ter)Pathogenic
Laron-type isolated somatotropin defect|Growth hormone insensitivity syndrome|not provided
β
β
ββ2023β Residue 56
NM_000163.5(GHR):c.267-2A>GPathogenic
Laron-type isolated somatotropin defect|not provided
β
β
ββ2023
NM_000163.5(GHR):c.3G>A (p.Met1Ile)Pathogenic
not provided
β
βββ2026β Residue 1
NM_000163.5(GHR):c.619-1G>TPathogenic
Laron-type isolated somatotropin defect|not provided
β
βββ2026
NM_000163.5(GHR):c.334T>C (p.Cys112Arg)Likely pathogenic
not provided
β
βββ2026β Residue 112
NM_000163.5(GHR):c.1687G>T (p.Glu563Ter)Pathogenic
not provided
β
βββ2026β Residue 563
NM_000163.5(GHR):c.1641_1645del (p.Pro548fs)Pathogenic
not provided
β
βββ2025β Residue 548
NM_000163.5(GHR):c.372_378del (p.Tyr125fs)Pathogenic
not provided
β
βββ2025β Residue 125
NM_000163.5(GHR):c.731G>T (p.Ser244Ile)Likely pathogenic
not provided
β
βββ2025β Residue 244
NM_000163.5(GHR):c.1369C>T (p.Gln457Ter)Pathogenic
not provided
β
βββ2025β Residue 457