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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(S128C +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
SH3BP2
(R415L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P418S +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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