NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)Pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|not provided|Amenorrhea|Hypogonadotropic hypogonadism|See cases|Pituitary hormone deficiency
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โโ2026โ Residue 262
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)Pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|not provided
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โโ2025โ Residue 269
NM_000406.3(GNRHR):c.742+2T>CPathogenic
Hypogonadotropic hypogonadism|not provided
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โโ2025
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)Pathogenic
not provided|Hypogonadotropic hypogonadism 7 with or without anosmia|Isolated congenital hypogonadotropic hypogonadism|Gonadotropin deficiency|Infertility disorder|Hypogonadotropic hypogonadism|GNRHR-related disorder|Inborn genetic diseases|Pituitary hormone deficiency
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โโ2025โ Residue 106
NM_000406.3(GNRHR):c.918CTT[2] (p.Phe309del)Pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|not provided
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โโ2025โ Residue 309
NM_000406.3(GNRHR):c.416G>A (p.Arg139His)Pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|not provided|Hypogonadotropic hypogonadism
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โโ2025โ Residue 139
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys)Pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|not provided
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โโ2025โ Residue 10
NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp)Pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|not provided
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โโ2025โ Residue 129
NM_000406.3(GNRHR):c.836G>A (p.Cys279Tyr)Pathogenic
not provided
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โโ2025โ Residue 279
NM_000406.3(GNRHR):c.469C>T (p.Gln157Ter)Likely pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|Hypogonadotropic hypogonadism
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โโ2025โ Residue 157
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)Pathogenic
not provided|Hypogonadotropic hypogonadism 7 with or without anosmia
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โโ2024โ Residue 266
NM_000406.3(GNRHR):c.401T>G (p.Val134Gly)Pathogenic
not provided|Hypogonadotropic hypogonadism 7 with or without anosmia
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โโ2024โ Residue 134
NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg)Pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|Amenorrhea
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โโ2024โ Residue 168
NM_000406.3(GNRHR):c.784C>T (p.Arg262Trp)Pathogenic
not provided|Hypogonadotropic hypogonadism 7 with or without anosmia
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โโ2024โ Residue 262
NM_000406.3(GNRHR):c.847T>C (p.Tyr283His)Pathogenic
not provided|Hypogonadotropic hypogonadism 7 with or without anosmia
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โโ2024โ Residue 283
NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys)Pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|not provided
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โโ2024โ Residue 90
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)Likely pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|Isolated GnRH Deficiency
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โโ2024โ Residue 10
NM_000406.3(GNRHR):c.351_352del (p.Ser118fs)Pathogenic
not provided|Isolated congenital hypogonadotropic hypogonadism
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โโ2024โ Residue 118
NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg)Pathogenic
Delayed puberty|Hypogonadotropic hypogonadism 7 with or without anosmia
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โโ2019โ Residue 117
NM_000406.3(GNRHR):c.743-1G>ALikely pathogenic
not provided
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โโโ2025