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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
(V107M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS
(V118M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
GNAS
(R1016fs +5 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
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