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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRIP, ATRIP-TREX1
+1 more
(D18N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+3 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(E20fs +1 more)
Duplication
(non-coding transcript variant +2 more)
TREX1-related condition
+5 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(A72fs +1 more)
Microsatellite
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+3 more
GPathogenic/Likely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(R114H +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
TREX1-related condition
+5 more
GConflicting classifications of pathogenicity
TREX1, ATRIP
+1 more
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
TREX1, ATRIP
+1 more
(V122A +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
Gnot provided
ATRIP-TREX1, TREX1
+1 more
(E127fs +1 more)
Duplication
(non-coding transcript variant +2 more)
not provided
GLikely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(L123fs +1 more)
Deletion
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
GLikely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(R164* +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
TREX1-related condition
+4 more
GPathogenic/Likely pathogenic
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
Duplication
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+3 more
GLikely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(D200N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(V201D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
Gnot provided
ATRIP, ATRIP-TREX1
+1 more
(W210fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
Gnot provided
TREX1, ATRIP
+1 more
Deletion
(non-coding transcript variant +2 more)
TREX1-related condition
+6 more
GPathogenic/Likely pathogenic
TREX1, ATRIP
+1 more
(T303P +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+3 more
GConflicting classifications of pathogenicity
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