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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP188
(R452Q)
Single nucleotide variant
(missense variant)
Sandestig-stefanova syndrome
GUncertain significance
NUP188
(R634C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance