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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+31 more
GPathogenic
FGFR3
(P250R)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+26 more
GPathogenic/Likely pathogenic
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+18 more
GPathogenic/Likely pathogenic
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+4 more
GPathogenic
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