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Links from MedGen

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANO3
(R169H +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GUncertain significance
ANO3
(V1014A +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GUncertain significance
ANO3
(S130* +2 more)
Single nucleotide variant
(nonsense)
Dystonia 24
GUncertain significance
ANO3
(T115A +1 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GUncertain significance
ANO3
(V179fs +2 more)
Deletion
(frameshift variant)
Dystonia 24
GUncertain significance
ANO3
(P383T +2 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GUncertain significance
ANO3
(V623A +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GUncertain significance
ANO3
(R426C +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GUncertain significance
ANO3
(G421R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
ANO3
(C234* +2 more)
Single nucleotide variant
(nonsense)
Dystonia 24
GUncertain significance
ANO3
Duplication
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+2 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANO3
Deletion
(intron variant)
Dystonia 24
+2 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3
Deletion
(intron variant)
Dystonia 24
+2 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3
Deletion
(intron variant)
Dystonia 24
+2 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3, MUC15
Microsatellite
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
ANO3, MUC15
Microsatellite
(3 prime UTR variant +1 more)
Dystonia 24
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
+2 more
GBenign/Likely benign
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
+2 more
GBenign/Likely benign
ANO3
Deletion
(intron variant)
not provided
+2 more
GBenign/Likely benign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+1 more
GBenign/Likely benign
ANO3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANO3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
+2 more
GBenign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
+2 more
GBenign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
+2 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
+2 more
GBenign
ANO3
(I265V +2 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
GBenign
ANO3
(S724F +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
+2 more
GUncertain significance
ANO3
(R689* +2 more)
Single nucleotide variant
(nonsense)
Dystonia 24
GUncertain significance
ANO3
(A718T +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GLikely pathogenic
ANO3
Single nucleotide variant
(intron variant)
Dystonic disorder
+2 more
GBenign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonic disorder
+2 more
GBenign/Likely benign
ANO3
(N709S +2 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GLikely pathogenic
ANO3
(E364K +2 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GPathogenic/Likely pathogenic
ANO3
(Q248P +2 more)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GUncertain significance
ANO3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ANO3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ANO3
(N603D +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
+1 more
GUncertain significance
ANO3
(S116F +1 more)
Single nucleotide variant
(missense variant)
Dystonia 24
+2 more
GBenign/Likely benign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonia 24
+2 more
GBenign/Likely benign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonia 24
+2 more
GBenign
ANO3
Single nucleotide variant
(intron variant)
Dystonia 24
+2 more
GBenign
ANO3
Single nucleotide variant
(synonymous variant)
Dystonia 24
+2 more
GBenign/Likely benign
ANO3
Microsatellite
(intron variant)
Dystonic disorder
+2 more
GBenign/Likely benign
ANO3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ANO3
(K862N +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GPathogenic
ANO3
(S685G +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GPathogenic
ANO3
(W490C +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GPathogenic
ANO3
(R494W +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
GPathogenic
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