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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOP1, PLCG1-AS1
(R693K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TOP1, PLCG1-AS1
(E695Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance