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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRIP, ATRIP-TREX1
+1 more
(T22M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
+4 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(C32* +1 more)
Duplication
(inframe_indel +3 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(R114H +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+4 more
GConflicting classifications of pathogenicity
ATRIP-TREX1, ATRIP
+1 more
(C208S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+5 more
GUncertain significance
TREX1, ATRIP
+1 more
(G227S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+4 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(A247P +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+4 more
GUncertain significance
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