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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(3 prime UTR variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(E266G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi Goutieres syndrome
+5 more
GConflicting classifications of pathogenicity
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