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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNB, FLNB-AS1
(S2518P +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Larsen syndrome
GUncertain significance
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+18 more
GPathogenic/Likely pathogenic