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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
(V400M +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+2 more
GConflicting classifications of pathogenicity
FGFR2
(C342R +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+3 more
GPathogenic
FGFR2
(S252W +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related disorder
+13 more
GPathogenic
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