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Items: 1 to 100 of 444

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(F100L +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
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)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(A292fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(P38fs +1 more)
Deletion
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(S228fs +1 more)
Insertion
(3 prime UTR variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(P158S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(L244M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(L134I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP-TREX1, TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 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
+2 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
+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
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
TREX1, ATRIP
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(P50S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 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
(T257A +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(A113fs +1 more)
Deletion
(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
(A187T +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
(Q179* +1 more)
Single nucleotide variant
(nonsense +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
ATRIP-TREX1, TREX1
+1 more
Single nucleotide variant
(synonymous 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
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-TREX1, 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
(S236P +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP-TREX1, ATRIP
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(S253R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
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
(M19fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(Q98H +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)
Chilblain lupus 1
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(V235fs +1 more)
Deletion
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
TREX1, 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
(L147P +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
TREX1, ATRIP
+1 more
(D101G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
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
(V301I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP-TREX1, ATRIP
+1 more
(V219L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Duplication
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 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
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
Deletion
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
TREX1, ATRIP-TREX1
+1 more
(P192S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 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
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(H114fs +1 more)
Deletion
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(L59fs +1 more)
Deletion
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(P173L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+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
(S251G +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
TREX1, ATRIP
+1 more
(L87V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(R164L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(3 prime UTR 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
(H85P +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
(C99* +1 more)
Duplication
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
Deletion
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
TREX1, ATRIP
+1 more
(P48S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(S159P +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
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(C89R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(M9T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Indel
(nonsense +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(F121I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(Q107* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GPathogenic
ATRIP, ATRIP-TREX1
+1 more
(P38R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(F121L +1 more)
Single nucleotide variant
(missense variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(P37H +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
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
(C198Y +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
ATRIP-TREX1, ATRIP
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(A211V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GUncertain significance
TREX1, ATRIP
+1 more
(H212N +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 +3 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(D55G +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
(synonymous variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(E73Q +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 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
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(D262V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
TREX1, ATRIP
+1 more
(G132A +1 more)
Single nucleotide variant
(missense variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(K267R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Aicardi-Goutieres syndrome 1
+2 more
GLikely benign
TREX1, ATRIP
+1 more
(S68fs +1 more)
Duplication
(3 prime UTR 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
TREX1, ATRIP
+1 more
Single nucleotide variant
(non-coding transcript variant +3 more)
Chilblain lupus 1
+2 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
+2 more
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(A95V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
+2 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(R164K +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Chilblain lupus 1
+2 more
GUncertain significance
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