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Items: 1 to 100 of 536

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+1 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Deletion
(non-coding transcript variant +1 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+1 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi Goutieres syndrome
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi Goutieres syndrome
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+1 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
+2 more
GBenign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+1 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Microsatellite
(non-coding transcript variant +3 more)
Aicardi Goutieres syndrome
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
TREX1-related disorder
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
TREX1-related disorder
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
TREX1-related disorder
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 1
GUncertain significance
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
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(M1fs)
Deletion
(non-coding transcript variant +4 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
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
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(G2fs)
Deletion
(non-coding transcript variant +4 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(G2V)
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(S3L)
Single nucleotide variant
(non-coding transcript variant +3 more)
Inborn genetic diseases
+3 more
GUncertain significance
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
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(A5D)
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP-TREX1, TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(P7fs)
Duplication
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
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
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(P7R)
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
TREX1, ATRIP
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
TREX1, ATRIP
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(P8A)
Single nucleotide variant
(non-coding transcript variant +3 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(P8L)
Single nucleotide variant
(non-coding transcript variant +3 more)
Inborn genetic diseases
+3 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(G9E)
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(P10H)
Single nucleotide variant
(non-coding transcript variant +3 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(M1T +1 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(M11R +1 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(Q12R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(L14F +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(I15M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(F17S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
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
(D18N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+3 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(M19fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
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
(M19V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(M19L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(M9T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP-TREX1, TREX1
+1 more
(E20fs +1 more)
Duplication
(frameshift variant +2 more)
Chilblain lupus 1
+4 more
GPathogenic
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
(A21T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
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
(P15fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
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
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
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
(P15T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(Q28fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(P25L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
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
Deletion
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
GLikely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(Q18fs +1 more)
Deletion
(non-coding transcript variant +2 more)
Neurodevelopmental disorder
GLikely pathogenic
ATRIP, ATRIP-TREX1
+1 more
(S27F +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
TREX1-related disorder
+3 more
GUncertain significance
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
(Q28R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(Q18H +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+3 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(P19S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(K20E +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(V21I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(T22M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
+3 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+3 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(E23V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
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
(A28S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(A38V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
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
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(C42W +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(A33T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(A43S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(L34fs +1 more)
Deletion
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(L44Q +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
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
(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
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(T39fs +1 more)
Deletion
(non-coding transcript variant +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
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