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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR2
(S351C +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Craniosynostosis syndrome
+15 more
GPathogenic
FGFR2
(A344G +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+1 more
GPathogenic
FGFR2
(W290C +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+12 more
GPathogenic
FGFR2
(P253R +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+12 more
GPathogenic/Likely pathogenic
FGFR2
(S252W +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+13 more
GPathogenic
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