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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAR
(N889S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(R1110W +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ADAR
(H1097N +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+3 more
GConflicting classifications of pathogenicity
ADAR
(R1051* +5 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
ADAR
(D1042fs +5 more)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
ADAR
(T1021I +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(R705W +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+2 more
GUncertain significance
ADAR
(E719Q +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(R942H +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GPathogenic
ADAR
(K623Q +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(K649E +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+2 more
GUncertain significance
ADAR, LOC126805874
(I625L +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR, LOC126805874
(V858I +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+2 more
GUncertain significance
ADAR, LOC126805874
(I578M +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR, LOC126805874
(R850W +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(P839R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ADAR
(A822fs +2 more)
Deletion
(frameshift variant +1 more)
Aicardi-Goutieres syndrome 6
+3 more
GPathogenic/Likely pathogenic
ADAR
(I793T +3 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+2 more
GUncertain significance
ADAR
(R495H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(A492V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(G732R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(D453N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(M402I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ADAR
(P703S +2 more)
Single nucleotide variant
(missense variant +1 more)
Symmetrical dyschromatosis of extremities
+2 more
GConflicting classifications of pathogenicity
ADAR
(H681R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(A359T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(G662E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(K637R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ADAR
(E640K +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+3 more
GUncertain significance
ADAR
(T610A +2 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+2 more
GUncertain significance
ADAR
(E299G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(T589R +2 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+3 more
GUncertain significance
ADAR
(H291R +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+2 more
GUncertain significance
ADAR
(S587N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(T576K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(V539I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(R179Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(G480V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(D163N +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+2 more
GUncertain significance
ADAR
(N144S +2 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+2 more
GUncertain significance
ADAR
(P434A +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+2 more
GUncertain significance
ADAR
(M108V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(S380N +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+2 more
GUncertain significance
ADAR
(R360Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(D342N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
(D321V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(E243K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADAR
(S217N +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+2 more
GConflicting classifications of pathogenicity
ADAR
(G209R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ADAR
(P193A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
ADAR-related disorder
+5 more
GConflicting classifications of pathogenicity
ADAR
(G190V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADAR
(G183S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
ADAR
(L165P +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADAR
(G163R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ADAR
(Q148E +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+2 more
GUncertain significance
ADAR
(S128A +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ADAR
(H110Y +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Symmetrical dyschromatosis of extremities
+2 more
GUncertain significance
ADAR
(P85L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ADAR
(R81W +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ADAR
(S76C +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADAR
(G33E +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
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