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Links from MedGen

Items: 1 to 100 of 215

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNRHR
(Q174R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GPathogenic
GNRHR
(N12fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GPathogenic
GNRHR
(P282L)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GLikely pathogenic
GNRHR
(R139C)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GPathogenic
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
AXL
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
(V518I +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+2 more
GLikely benign
GNRHR
(L266R)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GPathogenic/Likely pathogenic
SEMA3E
(A201T +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
SEMA3E
(N432K +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
GNRHR
(V134G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SEMA3E
(T393S +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
SEMA3E
(S720T +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+2 more
GUncertain significance
SEMA3E
(R337* +1 more)
Single nucleotide variant
(nonsense)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
SEMA3E
(G29D +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+3 more
GConflicting classifications of pathogenicity
SEMA3E
(R160H +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+2 more
GUncertain significance
SEMA3E
(A52V +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(D685G +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(V18A +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
SEMA3E
(D259E +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(A323S +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(C484R +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+2 more
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+2 more
GLikely benign
FEZF1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 22 with or without anosmia
+2 more
GBenign/Likely benign
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+3 more
GLikely benign
SEMA3E
(V119L +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+3 more
GUncertain significance
SEMA3E
(R700H +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GUncertain significance
SEMA3E
(R559H +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
SEMA3E
(P52R)
Single nucleotide variant
(5 prime UTR variant +1 more)
CHARGE syndrome
+4 more
GUncertain significance
CCDC141
(L63F)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(H359R +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+2 more
GUncertain significance
SEMA3E
(D625N +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+3 more
GUncertain significance
SEMA3E
(H359D +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(L255R +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
WDR11
(Q125*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GLikely benign
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GLikely benign
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GLikely benign
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
GNRHR
(S4R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
(K72R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(synonymous variant +1 more)
GNRHR-related disorder
+1 more
GConflicting classifications of pathogenicity
GNRHR
(P180S)
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
SEMA3E
(Y66H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SEMA3E
(K370N +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
SEMA3E
(Y331F +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SEMA3E
(M47K +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(R290W +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(T604M +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
HS6ST1
(D87E)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GLikely benign
HS6ST1
(R371H)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GLikely benign
CCDC141
(Y556C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
AXL
(G508S +2 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GLikely benign
GNRHR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CCDC141
(Q507H)
Single nucleotide variant
(missense variant)
CCDC141-related disorder
+2 more
GLikely benign
CCDC141
(V1457I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
HS6ST1
(R249S)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 15 with or without anosmia
+2 more
GBenign/Likely benign
GNRHR
(R240Q)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GConflicting classifications of pathogenicity
SEMA3E
(G392R +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+2 more
GLikely benign
SEMA3E
(F186L +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GBenign/Likely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
SEMA3E-related disorder
+2 more
GLikely benign
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
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