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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805874, ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+4 more
GBenign/Likely benign
ADAR
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
ADAR
(N416fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
ADAR
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ADAR
(Y292C +2 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+3 more
GBenign/Likely benign
ADAR
(Q559* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADAR
(V556L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAR
(K89R +2 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+3 more
GBenign
ADAR
(P193A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
ADAR-Related Disorders
+6 more
GConflicting classifications of pathogenicity
ADAR
(R100G +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Aicardi-Goutieres syndrome 6
+2 more
GBenign
ADAR, LOC129931512
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 6
+3 more
GBenign
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