GNRHR — 217 ClinVar variants
All ClinVar germline GNRHR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
19 Pathogenic · 13 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 7 Conflicting · 18 Benign · 5 Benign/Likely benign · 17 Likely benign · 123 Uncertain significance
Full GNRHR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GNRHR p.Arg262Gln
Pathogenic/Likely pathogenic
Multiple submitters
GNRHR-related disorders
-
GNRHR p.Asn10Lys
Pathogenic/Likely pathogenic
Multiple submitters
Isolated GnRH Deficiency
-
GNRHR p.Thr269Met
Pathogenic
Multiple submitters
hypogonadotropic hypogonadism 7 with or without anosmia
-
GNRHR p.Cys200Tyr
Pathogenic
Single submitter
GNRHR-related disorders
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GNRHR p.Arg240Gln
Conflicting
Single submitter
hypogonadotropic hypogonadism 7 with or without anosmia
-
GNRHR p.Gln11Lys
Conflicting
Single submitter
Isolated GnRH Deficiency
-
GNRHR p.Pro146Ser
Conflicting
Single submitter
hypogonadotropic hypogonadism 7 with or without anosmia
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GNRHR p.Ala127Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNRHR p.Leu48Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNRHR p.Thr237Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNRHR p.Trp63Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GNRHR p.Arg139Leu Uncertain significance Single submitter
- GNRHR p.Arg240Trp Uncertain significance Single submitter
- GNRHR p.Asn10Ser Uncertain significance Single submitter
-
GNRHR p.Asn3Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Cys218Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.Gln25Lys Uncertain significance Single submitter
-
GNRHR p.Glu68Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.His182Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.His199Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.Ile226Thr Uncertain significance Single submitter
-
GNRHR p.Ile288Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Leu228Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Leu249Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Leu251Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.Leu83Val Uncertain significance Single submitter
-
GNRHR p.Lys154Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Lys72Arg
Uncertain significance
Single submitter
hypogonadotropic hypogonadism 7 with or without anosmia
- GNRHR p.Met100Arg Uncertain significance Single submitter
-
GNRHR p.Met159Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Met180Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Met268Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.Met296Lys Uncertain significance Single submitter
- GNRHR p.Phe178Cys Uncertain significance Single submitter
-
GNRHR p.Phe213Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Ser124Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Ser327Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Ser4Arg
Uncertain significance
Single submitter
hypogonadotropic hypogonadism 7 with or without anosmia
-
GNRHR p.Ser4Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.Thr274Ala Uncertain significance Single submitter
-
GNRHR p.Thr30Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Thr30Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Thr32Ala
Uncertain significance
Single submitter
hypogonadotropic hypogonadism 7 with or without anosmia
- GNRHR p.Trp107Arg Uncertain significance Single submitter
-
GNRHR p.Trp205Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.Trp280Cys Uncertain significance Single submitter
- GNRHR p.Val134Ala Uncertain significance Single submitter
-
GNRHR p.Val270Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNRHR p.Val304Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 17
The independent predictors disagree with each other — read with care.
-
GNRHR p.Ala171Thr
Pathogenic
Multiple submitters
GNRHR-related disorders
-
GNRHR p.Arg38Gln
Likely pathogenic
Multiple submitters
GNRHR-related disorders
-
GNRHR p.Glu90Lys
Pathogenic/Likely pathogenic
Multiple submitters
hypogonadotropic hypogonadism 7 with or without anosmia
-
GNRHR p.Ser168Arg
Pathogenic
Multiple submitters
hypogonadotropic hypogonadism 7 with or without anosmia
-
GNRHR p.Tyr283His
Pathogenic/Likely pathogenic
Multiple submitters
hypogonadotropic hypogonadism 7 with or without anosmia
-
GNRHR p.Arg75Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.His243Pro Uncertain significance Single submitter
-
GNRHR p.Ile258Thr
Uncertain significance
Single submitter
hypogonadotropic hypogonadism 7 with or without anosmia
-
GNRHR p.Met125Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.Met95Ile Uncertain significance Single submitter
- GNRHR p.Met95Val Uncertain significance Single submitter
- GNRHR p.Thr237Ile Uncertain significance Single submitter
-
GNRHR p.Trp205Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GNRHR p.Tyr283Ser Uncertain significance Single submitter
- GNRHR p.Tyr290His Uncertain significance Single submitter
-
GNRHR p.Val94Ala
Conflicting
Single submitter
hypogonadotropic hypogonadism 7 with or without anosmia
-
GNRHR p.Thr281Ile
Pathogenic
No assertion criteria
hypogonadotropic hypogonadism 7 with or without anosmia
All GNRHR variants
Pathogenic 19
- p.Ala129Asp Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Ala171Thr Multiple submitters GNRHR-related disorders ⚠
- p.Arg139His Multiple submitters GNRHR-related disorders
- p.Arg38Ter Multiple submitters GNRHR-related disorders
- p.Ser168Arg Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Thr269Met Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Val134Gly Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.523-1G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Arg139Cys Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Asn12fs Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Cys200Tyr Single submitter GNRHR-related disorders ⚠
- p.Gln174Arg Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Tyr211Ter Single submitter
- p.Val39fs Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Leu314Ter No assertion criteria hypogonadotropic hypogonadism 7 with or without anosmia
- p.Met131Thr No assertion criteria hypogonadotropic hypogonadism 7 with or without anosmia
- p.Pro320Leu No assertion criteria hypogonadotropic hypogonadism 7 with or without anosmia
- p.Ser217Arg No assertion criteria hypogonadotropic hypogonadism 7 with or without anosmia
- p.Thr281Ile No assertion criteria hypogonadotropic hypogonadism 7 with or without anosmia ⚠
Pathogenic/Likely pathogenic 13
- c.742+2T>C Multiple submitters hypogonadotropic hypogonadism
- p.Arg262Gln Multiple submitters GNRHR-related disorders ⚠
- p.Arg262Trp Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Asn10_Gln11delinsLysLys Multiple submitters GNRHR-related disorders
- p.Asn10Lys Multiple submitters Isolated GnRH Deficiency ⚠
- p.Cys279Tyr Multiple submitters
- p.Gln106Arg Multiple submitters GNRHR-related disorders
- p.Glu90Lys Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Leu117Arg Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Leu266Arg Multiple submitters GNRHR-related disorders
- p.Phe309del Multiple submitters GNRHR-related disorders
- p.Ser118fs Multiple submitters isolated congenital hypogonadotropic hypogonadism
- p.Tyr283His Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia ⚠
Likely pathogenic 15
- p.Arg38Gln Multiple submitters GNRHR-related disorders ⚠
- p.Gln157Ter Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Tyr284Cys Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.743-1G>A Single submitter
- p.Ala163Asp Single submitter
- p.Ala171Val Single submitter
- p.Asp138Gly Single submitter
- p.Gln195Ter Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Ile93fs Single submitter
- p.Leu137Pro Single submitter GNRHR-related disorders
- p.Leu166Pro Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Leu83fs Single submitter
- p.Phe52fs Single submitter
- p.Pro282Leu Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Pro259= No assertion criteria GNRHR-related disorder
Conflicting classifications of pathogenicity 7
- c.523-15del Single submitter
- p.Arg240Gln Single submitter hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Gln11Lys Single submitter Isolated GnRH Deficiency ⚠
- p.Ile222= Single submitter Inborn genetic diseases
- p.Phe216= Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Pro146Ser Single submitter hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Val94Ala Single submitter hypogonadotropic hypogonadism 7 with or without anosmia ⚠
Benign 18
- c.742+35C>T Multiple submitters
- c.-1497C>T Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.-224A>G Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.-904A>G Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1260G>T Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.*583A>G Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.*802G>C Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.*809C>T Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.*829T>C Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1144T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1255T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1279G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1891T>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2055G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2166G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2496G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2663G>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Ser327= Single submitter
Benign/Likely benign 5
- c.742+17G>A Multiple submitters
- c.-1570C>G Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.-62G>A Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Leu48= Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Ser151= Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
Likely benign 17
- c.-541G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-731C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2441T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2767T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*385A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*78G>A Single submitter
- p.Ala261= Single submitter
- p.Ala50= Single submitter
- p.His247= Single submitter Inborn genetic diseases
- p.Ile17= Single submitter
- p.Leu238= Single submitter Inborn genetic diseases
- p.Leu58= Single submitter
- p.Thr144= Single submitter
- p.Tyr176= Single submitter
- p.Tyr323= Single submitter
- p.Val160Ile Single submitter Inborn genetic diseases
- p.Thr40= No assertion criteria GNRHR-related disorder
Uncertain significance 123
- c.-8G>A Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- c.*495T>C Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Ala127Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu48Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met1Thr Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Thr237Asn Multiple submitters Inborn genetic diseases ⚠
- p.Trp63Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp63Cys Multiple submitters Inborn genetic diseases
- c.743-9A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1059G>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-107C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1239T>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1251T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1319C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1434A>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1464G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1563T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1636T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1701A>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1702A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-1741G>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-576G>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-699T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-721A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-877C>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-922A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-927C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-962G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.-980G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1144A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1193C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1248A>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1275G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1301A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1302G>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1347A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1532C>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1654C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1797A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1892C>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*193A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1948C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*1984T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2165A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2196G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2244T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2248T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2328A>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2588C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2748C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2772A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2802T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*2919A>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*3011T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*3076T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*349A>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*466T>G Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*474T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*622T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*662T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*668G>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*696A>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*730T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*806G>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*819A>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*832T>C Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*912C>T Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- c.*928C>A Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Ala129Val Single submitter
- p.Arg139Leu Single submitter ⚠
- p.Arg240Trp Single submitter ⚠
- p.Arg75Ser Single submitter Inborn genetic diseases ⚠
- p.Asn10Ser Single submitter ⚠
- p.Asn3Lys Single submitter Inborn genetic diseases ⚠
- p.Cys218Arg Single submitter Inborn genetic diseases ⚠
- p.Gln25Lys Single submitter ⚠
- p.Glu68Lys Single submitter Inborn genetic diseases ⚠
- p.His182Leu Single submitter Inborn genetic diseases ⚠
- p.His199Arg Single submitter Inborn genetic diseases ⚠
- p.His243Pro Single submitter ⚠
- p.Ile226Thr Single submitter ⚠
- p.Ile258Thr Single submitter hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Ile288Asn Single submitter Inborn genetic diseases ⚠
- p.Leu228Pro Single submitter Inborn genetic diseases ⚠
- p.Leu249Pro Single submitter Inborn genetic diseases ⚠
- p.Leu251Gln Single submitter Inborn genetic diseases ⚠
- p.Leu83Val Single submitter ⚠
- p.Lys154Glu Single submitter Inborn genetic diseases ⚠
- p.Lys72Arg Single submitter hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Met100Arg Single submitter ⚠
- p.Met125Val Single submitter Inborn genetic diseases ⚠
- p.Met159Ile Single submitter Inborn genetic diseases ⚠
- p.Met180Ile Single submitter Inborn genetic diseases ⚠
- p.Met268Thr Single submitter Inborn genetic diseases ⚠
- p.Met296Ile Single submitter Inborn genetic diseases
- p.Met296Lys Single submitter ⚠
- p.Met95Ile Single submitter ⚠
- p.Met95Val Single submitter ⚠
- p.Phe178Cys Single submitter ⚠
- p.Phe213Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser124Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser327Cys Single submitter Inborn genetic diseases ⚠
- p.Ser4Arg Single submitter hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Ser4Thr Single submitter Inborn genetic diseases ⚠
- p.Thr144Pro Single submitter
- p.Thr237Ile Single submitter ⚠
- p.Thr274= Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Thr274Ala Single submitter ⚠
- p.Thr30Ile Single submitter Inborn genetic diseases ⚠
- p.Thr30Ser Single submitter Inborn genetic diseases ⚠
- p.Thr32Ala Single submitter hypogonadotropic hypogonadism 7 with or without anosmia ⚠
- p.Trp107Arg Single submitter ⚠
- p.Trp205Arg Single submitter Inborn genetic diseases ⚠
- p.Trp205Cys Single submitter Inborn genetic diseases ⚠
- p.Trp280Cys Single submitter ⚠
- p.Tyr283Ser Single submitter ⚠
- p.Tyr290His Single submitter ⚠
- p.Val133= Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Val134Ala Single submitter ⚠
- p.Val155= Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Val192= Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Val270Ile Single submitter Inborn genetic diseases ⚠
- p.Val304Leu Single submitter Inborn genetic diseases ⚠