NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)Pathogenic
not provided|Coffin-Lowry syndrome|Coffin-Lowry syndrome;Intellectual disability, X-linked 19
★★☆☆2026→ Residue 632
NM_004586.3(RPS6KA3):c.1603-5A>GPathogenic
Coffin-Lowry syndrome;Intellectual disability, X-linked 19|not provided
★★☆☆2025
NM_004586.3(RPS6KA3):c.1699C>T (p.Gln567Ter)Pathogenic
Inborn genetic diseases|Intellectual disability, X-linked 19;Coffin-Lowry syndrome
★★☆☆2025→ Residue 567
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)Pathogenic
Coffin-Lowry syndrome|Coffin-Lowry syndrome;Intellectual disability, X-linked 19|not provided|Thyroid cancer, nonmedullary, 1
★★☆☆2025→ Residue 305
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter)Pathogenic
Coffin-Lowry syndrome|not provided|Coffin-Lowry syndrome;Intellectual disability, X-linked 19
★★☆☆2025→ Residue 112
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)Pathogenic
Coffin-Lowry syndrome|not provided|Intellectual disability|Inborn genetic diseases|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma|Coffin-Lowry syndrome;Intellectual disability, X-linked 19
★★☆☆2025→ Residue 729
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)Pathogenic
Intellectual disability, X-linked 19;Coffin-Lowry syndrome|not provided|Coffin-Lowry syndrome
★★☆☆2025→ Residue 243
NM_004586.3(RPS6KA3):c.1540C>T (p.Arg514Ter)Pathogenic
RPS6KA3-related disorder|Coffin-Lowry syndrome|not provided
★★☆☆2024→ Residue 514
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter)Pathogenic
not provided|Coffin-Lowry syndrome;Intellectual disability, X-linked 19
★★☆☆2024→ Residue 300
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)Pathogenic
Coffin-Lowry syndrome|Intellectual disability, X-linked 19|not provided
★★☆☆2023→ Residue 729
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)Pathogenic
Coffin-Lowry syndrome|Intellectual disability, X-linked 19
★★☆☆2023→ Residue 298
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)Pathogenic
Coffin-Lowry syndrome|Intellectual disability|not provided
★★☆☆2023→ Residue 110
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs)Pathogenic
Intellectual disability, X-linked 19
★★☆☆2022→ Residue 435
NM_004586.3(RPS6KA3):c.262dup (p.Ile88fs)Pathogenic
not provided|Coffin-Lowry syndrome
★★☆☆2022→ Residue 88
NM_004586.3(RPS6KA3):c.593+2_593+5delPathogenic
not provided|Coffin-Lowry syndrome;Intellectual disability, X-linked 19
★★☆☆2021
NM_004586.3(RPS6KA3):c.632-1G>CPathogenic
not provided|Coffin-Lowry syndrome|Inborn genetic diseases
★★☆☆2021
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)Pathogenic
Coffin-Lowry syndrome|not provided
★★☆☆2020→ Residue 71
NM_004586.3(RPS6KA3):c.356G>C (p.Arg119Pro)Likely pathogenic
not provided
★★☆☆2017→ Residue 119
NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter)Pathogenic
7 conditions|Inborn genetic diseases
★★☆☆2017→ Residue 508
NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)Pathogenic
Intellectual disability, X-linked 19;Coffin-Lowry syndrome
★☆☆☆2025→ Residue 319