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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSG
(S85P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARSG
(G113D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ARSG, PRKAR1A
(S442fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
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