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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRIP, ATRIP-TREX1
+1 more
(E20fs +1 more)
Duplication
(non-coding transcript variant +2 more)
TREX1-related condition
+5 more
GPathogenic
TREX1, ATRIP
+1 more
(W210* +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
GPathogenic