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Items: 1 to 100 of 551

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABTB2, ANO3
+283 more
Copy number loss
See cases
GPathogenic
LOC126861164, LOC126861165
+49 more
Copy number gain
See cases
GUncertain significance
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
ANO3, ANO3-AS1
+47 more
Copy number loss
See cases
GLikely pathogenic
ANO3, ANO3-AS1
+71 more
Copy number gain
See cases
GPathogenic
ANO3, ANO3-AS1
+3 more
Copy number gain
See cases
GBenign
ANO3
(F16L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO3
(S35C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO3
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ANO3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ANO3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ANO3
(H4N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ANO3
Single nucleotide variant
(synonymous variant +1 more)
Dystonic disorder
GLikely benign
ANO3
(G6V)
Single nucleotide variant
(missense variant +1 more)
Dystonic disorder
GUncertain significance
ANO3
(G16C)
Single nucleotide variant
(missense variant +1 more)
Dystonic disorder
GUncertain significance
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
GUncertain significance
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3
Duplication
(intron variant)
not provided
GBenign
ANO3
Duplication
(intron variant)
not provided
GBenign
ANO3
Duplication
(intron variant)
not provided
GLikely benign
ANO3
Duplication
(intron variant)
not provided
GLikely benign
ANO3
Deletion
(intron variant)
not provided
GBenign
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
GLikely benign
ANO3
(G16V +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
Single nucleotide variant
(synonymous variant)
ANO3-related disorder
+1 more
GLikely benign
ANO3
(R34G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO3
(A41P +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(A102S +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(A102T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANO3
(A102V +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(Q103* +1 more)
Single nucleotide variant
(nonsense)
Dystonic disorder
GUncertain significance
ANO3
(S104N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
(Q113R +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(T115A +1 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GUncertain significance
ANO3
(T115I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO3
(S116F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
(E122K +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(E122A +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GLikely benign
ANO3
(S123R +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(T132S +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
(T136A +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
GLikely benign
ANO3
Deletion
(intron variant)
not provided
GBenign
ANO3
Single nucleotide variant
(splice acceptor variant)
Dystonic disorder
GLikely benign
ANO3
(T144N +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(E85D +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(N147S +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(N149S +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(D150N +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
(C155Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ANO3
(A158V +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(D159A +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(L160I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO3
(A105T +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
Duplication
(intron variant)
not provided
GLikely benign
ANO3
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO3
Microsatellite
(intron variant)
not provided
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO3
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO3
Microsatellite
(intron variant)
Dystonic disorder
GLikely benign
ANO3
Deletion
(intron variant)
Dystonic disorder
GLikely benign
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
GLikely benign
ANO3
(T113M +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(D114H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
(T120A +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(D183A +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(R184Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANO3
(S124P +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(R125H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
(V192F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANO3
(K133R +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GLikely benign
ANO3
(S197Y +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GConflicting classifications of pathogenicity
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
(K141E +1 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(S143F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
+1 more
GUncertain significance
ANO3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
GLikely benign
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
GLikely benign
ANO3
(P155L +2 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(D226Y +2 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
ANO3
(I175V +2 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GLikely benign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
GUncertain significance
ANO3
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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