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Items: 1 to 100 of 208

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
LOC110120745, LOC129992610
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992665, LOC129992666
+103 more
Copy number loss
See cases
GPathogenic
CENPC, GNRHR
+32 more
Copy number gain
See cases
GUncertain significance
AMBN, AMTN
+76 more
Copy number loss
See cases
GPathogenic
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
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
GBenign
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
GBenign
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
GBenign
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
GBenign
GNRHR
Duplication
(3 prime UTR variant)
Isolated GnRH Deficiency
GUncertain significance
GNRHR
Duplication
(3 prime UTR variant)
Isolated GnRH Deficiency
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
GBenign
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
Deletion
(3 prime UTR variant)
Isolated GnRH Deficiency
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
Duplication
(3 prime UTR variant)
Isolated GnRH Deficiency
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
GBenign
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
Deletion
(3 prime UTR variant)
Isolated GnRH Deficiency
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
GBenign
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
GBenign
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
GBenign
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
GBenign
GNRHR
Duplication
(3 prime UTR variant)
Isolated GnRH Deficiency
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
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)
not provided
GLikely benign
GNRHR
Single nucleotide variant
(synonymous variant +1 more)
GNRHR-related disorder
+1 more
GBenign/Likely benign
GNRHR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GNRHR
(P320L)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GPathogenic
GNRHR
(L314*)
Single nucleotide variant
(nonsense +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GPathogenic
GNRHR
(V304L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GNRHR
(M296I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GNRHR
(V247A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNRHR
(Y284C)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GLikely pathogenic
GNRHR
(Y283S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNRHR
(Y283H +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GNRHR
(P282L)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GLikely pathogenic
GNRHR
(T281I)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GPathogenic
GNRHR
(W280C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNRHR
(C279Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
GNRHR
(T274A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNRHR
(T269M)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GPathogenic
GNRHR
(L266R)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GPathogenic/Likely pathogenic
GNRHR
(R262Q)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
+2 more
GPathogenic/Likely pathogenic
GNRHR
(R262W +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GNRHR
(T219A)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GNRHR
(I258T)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
(L249P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GNRHR
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
CSN1S1, CSN2
+43 more
Copy number loss
See cases
GUncertain significance
GNRHR
Single nucleotide variant
(intron variant)
not provided
GBenign
GNRHR
Single nucleotide variant
(intron variant)
not provided
GBenign
GNRHR
(R240Q)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GConflicting classifications of pathogenicity
GNRHR
(R240W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNRHR
(I226T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNRHR
(P180S)
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 7 with or without anosmia
GUncertain significance
GNRHR
(C218R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GNRHR
(S217R +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
GPathogenic
GNRHR
Single nucleotide variant
(synonymous variant +1 more)
GNRHR-related disorder
+3 more
GConflicting classifications of pathogenicity
GNRHR
(Y211*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
GNRHR
Single nucleotide variant
(synonymous variant +1 more)
GNRHR-related disorder
+1 more
GConflicting classifications of pathogenicity
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