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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNRH1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
Single nucleotide variant
(5 prime UTR variant)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
Single nucleotide variant
(5 prime UTR variant)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
Single nucleotide variant
(5 prime UTR variant)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
Single nucleotide variant
(5 prime UTR variant)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
GNRH1
(E47D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNRH1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 12 with or without anosmia
GLikely benign
GNRH1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 12 with or without anosmia
GLikely benign
GNRH1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
(W16S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GNRH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNRH1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 12 with or without anosmia
+1 more
GConflicting classifications of pathogenicity
GNRH1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 12 with or without anosmia
GUncertain significance
GNRH1
(L11fs +1 more)
Duplication
(frameshift variant)
Hypogonadotropic hypogonadism 12 with or without anosmia
GPathogenic
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