NM_000216.4(ANOS1):c.1270C>T (p.Arg424Ter)Pathogenic
not provided|Hypogonadotropic hypogonadism 1 with or without anosmia|Hypogonadotropic hypogonadism
β
β
ββ2026β Residue 424
NM_000216.4(ANOS1):c.1063-1G>CPathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia|not provided
β
β
ββ2025
NM_000216.4(ANOS1):c.256T>A (p.Cys86Ser)Pathogenic
Hypogonadotropic hypogonadism|Hypogonadotropic hypogonadism 1 with or without anosmia
β
β
ββ2025β Residue 86
NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter)Pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia|not provided
β
β
ββ2025β Residue 262
NM_000216.4(ANOS1):c.1449+1G>APathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia|Hypogonadotropic hypogonadism|not provided
β
β
ββ2025
NM_000216.4(ANOS1):c.1137C>G (p.Tyr379Ter)Pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
β
ββ2025β Residue 379
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter)Pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
β
ββ2024β Residue 37
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter)Pathogenic
not provided|Hypogonadotropic hypogonadism 1 with or without anosmia|Martsolf syndrome 1
β
β
ββ2024β Residue 631
NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter)Pathogenic
Delayed puberty|Hypogonadotropic hypogonadism 7 with or without anosmia|Hypogonadotropic hypogonadism 1 with or without anosmia
β
β
ββ2024β Residue 457
NM_000216.4(ANOS1):c.1267C>T (p.Arg423Ter)Pathogenic
not provided|Hypogonadotropic hypogonadism 1 with or without anosmia
β
β
ββ2023β Residue 423
NM_000216.4(ANOS1):c.1A>C (p.Met1Leu)Likely pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
βββ2026β Residue 1
NM_000216.4(ANOS1):c.709T>C (p.Trp237Arg)Likely pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
βββ2026β Residue 237
NM_000216.4(ANOS1):c.257G>T (p.Cys86Phe)Likely pathogenic
not provided
β
βββ2025β Residue 86
NM_000216.4(ANOS1):c.571C>T (p.Arg191Ter)Pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
βββ2025β Residue 191
NM_000216.4(ANOS1):c.856+1G>TPathogenic
Hypogonadotropic hypogonadism|Familial cancer of breast
β
βββ2025
NM_000216.4(ANOS1):c.1156_1157del (p.Lys386fs)Pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
βββ2025β Residue 386
NM_000216.4(ANOS1):c.814C>T (p.Arg272Ter)Pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
βββ2025β Residue 272
NM_000216.4(ANOS1):c.44G>A (p.Trp15Ter)Pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
βββ2025β Residue 15
NM_000216.4(ANOS1):c.1897del (p.Glu633fs)Pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
βββ2025β Residue 633
NM_000216.4(ANOS1):c.1863del (p.Asn623fs)Likely pathogenic
Hypogonadotropic hypogonadism 1 with or without anosmia
β
βββ2025β Residue 623