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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPRY4
(S116N +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 17 with or without anosmia
GUncertain significance
SPRY4
(V16I +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 17 with or without anosmia
GPathogenic
SPRY4
(S241Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPRY4
(V304I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SPRY4
(K177R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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