NM_012448.4(STAT5B):c.1102dup (p.Gln368fs)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive|not provided
★★☆☆2025→ Residue 368
NM_012448.4(STAT5B):c.1906+1G>ALikely pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive|not provided|Familial prostate cancer
★★☆☆2025
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★★☆☆2023→ Residue 142
NM_012448.4(STAT5B):c.240_241del (p.Leu82fs)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2025→ Residue 82
NM_012448.4(STAT5B):c.1183G>T (p.Glu395Ter)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2025→ Residue 395
NM_012448.4(STAT5B):c.621G>C (p.Lys207Asn)Likely pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2024→ Residue 207
NM_012448.4(STAT5B):c.1892G>A (p.Trp631Ter)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2024→ Residue 631
NM_012448.4(STAT5B):c.1906C>T (p.Gln636Ter)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2024→ Residue 636
NM_012448.4(STAT5B):c.1474-2_1474delinsTLikely pathogenic
not provided
★☆☆☆2024
NM_012448.4(STAT5B):c.245del (p.Leu82fs)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2024→ Residue 82
NM_012448.4(STAT5B):c.16C>T (p.Gln6Ter)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2024→ Residue 6
NM_012448.4(STAT5B):c.2135_2139dup (p.Ala714Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 714
NM_012448.4(STAT5B):c.1102del (p.Gln368fs)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2023→ Residue 368
NM_012448.4(STAT5B):c.89_90dup (p.Arg31fs)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2023→ Residue 31
NM_012448.4(STAT5B):c.415C>T (p.Gln139Ter)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2023→ Residue 139
NM_012448.4(STAT5B):c.303C>A (p.Cys101Ter)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2023→ Residue 101
NM_012448.4(STAT5B):c.1896G>T (p.Lys632Asn)Likely pathogenic
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
★☆☆☆2023→ Residue 632
NM_012448.4(STAT5B):c.1213_1229del (p.Tyr405fs)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2023→ Residue 405
NM_012448.4(STAT5B):c.1681-2A>GLikely pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2023
NM_012448.4(STAT5B):c.1749del (p.Lys583fs)Pathogenic
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
★☆☆☆2022→ Residue 583