NM_006261.5(PROP1):c.301_302del (p.Leu102fs)Pathogenic
Pituitary hormone deficiency, combined, 2|Combined pituitary hormone deficiencies, genetic form|not provided|46,XY partial gonadal dysgenesis|PROP1-related disorder|Pituitary hormone deficiency
β
β
ββ2026β Residue 102
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided|Pituitary hormone deficiency
β
β
ββ2026β Residue 117
NM_006261.5(PROP1):c.2T>C (p.Met1Thr)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2026β Residue 1
NM_006261.5(PROP1):c.150del (p.Arg53fs)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided|See cases|Combined pituitary hormone deficiencies, genetic form
β
β
ββ2026β Residue 53
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)Pathogenic
Pituitary hormone deficiency, combined, 2|Inborn genetic diseases|not provided|Combined pituitary hormone deficiencies, genetic form
β
β
ββ2026β Residue 99
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2026β Residue 120
NM_006261.5(PROP1):c.374G>A (p.Arg125Gln)Likely pathogenic
Combined pituitary hormone deficiencies, genetic form|Pituitary hormone deficiency, combined, 2
β
β
ββ2025β Residue 125
NM_006261.5(PROP1):c.343-1G>ALikely pathogenic
Pituitary hormone deficiency, combined, 2
β
β
ββ2025
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)Pathogenic
Combined pituitary hormone deficiencies, genetic form|not provided|Pituitary hormone deficiency, combined, 2|PROP1-related disorder
β
β
ββ2025β Residue 16
NM_006261.5(PROP1):c.74_75dup (p.His26fs)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2025β Residue 26
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2025β Residue 71
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided|Pituitary hormone deficiency
β
β
ββ2025β Residue 125
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2025β Residue 73
NM_006261.5(PROP1):c.310del (p.Arg104fs)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2025β Residue 104
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2025β Residue 99
NM_006261.5(PROP1):c.611del (p.Gly204fs)Likely pathogenic
Pituitary hormone deficiency, combined, 2
β
β
ββ2025β Residue 204
NM_006261.5(PROP1):c.110-2A>GLikely pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2025
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)Pathogenic
Pituitary hormone deficiency, combined, 2|not provided
β
β
ββ2025β Residue 38
NM_006261.5(PROP1):c.629dup (p.Pro211fs)Likely pathogenic
Pituitary hormone deficiency, combined, 2
β
β
ββ2025β Residue 211
NM_006261.5(PROP1):c.629del (p.Pro210fs)Likely pathogenic
not provided|Pituitary hormone deficiency, combined, 2
β
β
ββ2025β Residue 210