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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLA1
(N1011S +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, van Esch type
+1 more
GUncertain significance
POLA1
(G1240R +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, van Esch type
+1 more
GUncertain significance