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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR2
(S354C +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+4 more
GPathogenic
FGFR2
(Y105C)
Single nucleotide variant
(missense variant +1 more)
Crouzon syndrome
+12 more
GPathogenic/Likely pathogenic