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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related disorder
+15 more
GPathogenic
FGFR2
(W290C +3 more)
Single nucleotide variant
(intron variant +2 more)
not provided
+12 more
GPathogenic
FGFR2
(P253R +3 more)
Single nucleotide variant
(missense variant +2 more)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
+13 more
GPathogenic/Likely pathogenic
FGFR2
(S252W +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+14 more
GPathogenic
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