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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFIH1
(I506N)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
COBLL1, CSRNP3
+18 more
Deletion
not provided
GPathogenic