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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TREX1, ATRIP
+1 more
(T39fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+5 more
GPathogenic/Likely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(Q41fs +1 more)
Deletion
(non-coding transcript variant +2 more)
not provided
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(F100S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+4 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(S157fs +1 more)
Deletion
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+3 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Aicardi-Goutieres syndrome 1
+5 more
GBenign
ATRIP, ATRIP-TREX1
+1 more
(E266G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
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