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Items: 1 to 100 of 1377

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
LOC129931527, LOC129931528
+91 more
Copy number loss
See cases
GPathogenic
ADAR
Duplication
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Duplication
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Deletion
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GLikely benign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GLikely benign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Microsatellite
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Deletion
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Deletion
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GLikely benign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Deletion
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Duplication
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
Single nucleotide variant
(3 prime UTR variant)
Symmetrical dyschromatosis of extremities
GBenign
ADAR
Single nucleotide variant
(3 prime UTR variant)
ADAR-related disorder
GLikely benign
ADAR
(P904A +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(Y1177S +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(K1228N +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(Q1171R +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
GUncertain significance
ADAR
(K1169R +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
(I1221V +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Deletion
(nonsense)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(W890L +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(N889S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(Y1163C +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAR
(G1176V +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(G1157A +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(K1200R +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(K1174Q +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(A1195G +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
(T1149M +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(E1193K +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(Y1166D +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(D1146H +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(R1199H +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
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