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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAR
(T1149M +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(R1051* +5 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
ADAR
(G1007R +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+2 more
GPathogenic/Likely pathogenic
ADAR, LOC126805874
(T863S +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
GUncertain significance
ADAR
(P202L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 6
GUncertain significance
ADAR
(P193A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
ADAR-related condition
+6 more
GConflicting classifications of pathogenicity
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