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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR2
(C342Y +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+13 more
GPathogenic/Likely pathogenic
FGFR2
(C342R +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+3 more
GPathogenic
FGFR2
(W290C +3 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+12 more
GPathogenic
FGFR2
(S252W +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related disorder
+13 more
GPathogenic
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