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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRIP, ATRIP-TREX1
+1 more
(R97H +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+3 more
GConflicting classifications of pathogenicity
ATRIP, ATRIP-TREX1
+1 more
(C99fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+4 more
GConflicting classifications of pathogenicity