| | | Copy number gain | See cases | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Deletion (non-coding transcript variant +1 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi Goutieres syndrome +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi Goutieres syndrome +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | not provided +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Microsatellite (non-coding transcript variant +3 more) | Aicardi Goutieres syndrome +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | TREX1-related disorder | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | TREX1-related disorder | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | TREX1-related disorder | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Aicardi-Goutieres syndrome 1 | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | TREX1-related disorder | |
| | ATRIP, ATRIP-TREX1 +1 more (M1fs) | Deletion (non-coding transcript variant +4 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (M1V) | Single nucleotide variant (non-coding transcript variant +4 more) | Systemic lupus erythematosus +4 more | GConflicting classifications of pathogenicity |
| | ATRIP, ATRIP-TREX1 +1 more (M1T) | Single nucleotide variant (non-coding transcript variant +4 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (G2fs) | Deletion (non-coding transcript variant +4 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (G2V) | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (S3L) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases +3 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | ATRIP, ATRIP-TREX1 +1 more (Q4K) | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (A5D) | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP-TREX1, TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P7fs) | Duplication (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P10fs) | Duplication (non-coding transcript variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | ATRIP, ATRIP-TREX1 +1 more (P7S) | Single nucleotide variant (non-coding transcript variant +3 more) | See cases | |
| | ATRIP, ATRIP-TREX1 +1 more (P7R) | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P8A) | Single nucleotide variant (non-coding transcript variant +3 more) | Chilblain lupus 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P8L) | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases +3 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (G9E) | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P10H) | Single nucleotide variant (non-coding transcript variant +3 more) | Chilblain lupus 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +3 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (M1T +1 more) | Single nucleotide variant (non-coding transcript variant +3 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (M11R +1 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | ATRIP, ATRIP-TREX1 +1 more (Q12R +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (L14F +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Duplication (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (I15M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | ATRIP, ATRIP-TREX1 +1 more (F17S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (D18N +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +3 more | |
| | ATRIP, ATRIP-TREX1 +1 more (M19fs +1 more) | Duplication (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (M19V +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (M19L +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Chilblain lupus 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (M9T +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP-TREX1, TREX1 +1 more (E20fs +1 more) | Duplication (frameshift variant +2 more) | Chilblain lupus 1 +4 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (A21T +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P15fs +1 more) | Duplication (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P15T +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Chilblain lupus 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (Q28fs +1 more) | Duplication (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P25L +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Deletion (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 | |
| | ATRIP, ATRIP-TREX1 +1 more (Q18fs +1 more) | Deletion (non-coding transcript variant +2 more) | Neurodevelopmental disorder | |
| | ATRIP, ATRIP-TREX1 +1 more (S27F +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | TREX1-related disorder +3 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (Q28R +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (Q18H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +3 more | |
| | ATRIP, ATRIP-TREX1 +1 more (P19S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (K20E +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (V21I +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (T22M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified +3 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +3 more | |
| | ATRIP, ATRIP-TREX1 +1 more (E23V +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (A28S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (A38V +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Chilblain lupus 1 +2 more | |
| | ATRIP-TREX1, TREX1 +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 (C32* +1 more) | Duplication (inframe_indel +3 more) | Chilblain lupus 1 +2 more | GPathogenic/Likely pathogenic |
| | ATRIP, ATRIP-TREX1 +1 more (C32Y +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | ATRIP, ATRIP-TREX1 +1 more (C42W +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (A33T +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (A43S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Chilblain lupus 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (L34fs +1 more) | Deletion (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (L44Q +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (S36fs +1 more) | Duplication (frameshift variant +2 more) | Aicardi-Goutieres syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | ATRIP, ATRIP-TREX1 +1 more (T39fs +1 more) | Duplication (frameshift variant +2 more) | Aicardi-Goutieres syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Chilblain lupus 1 +2 more | |
| | ATRIP, ATRIP-TREX1 +1 more (T39fs +1 more) | Deletion (non-coding transcript variant +2 more) | not provided +3 more | GPathogenic/Likely pathogenic |