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Links from OMIM

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNRH1
(L34fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
FGF17
(R177H +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 20 without anosmia
GPathogenic
SEMA3A
(V435I)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 16 with or without anosmia
+2 more
GBenign/Likely benign
FGFR2
(M391R +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
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