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Links from MedGen

Items: 1 to 100 of 924

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(I162F +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(T965M +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
(I1001V +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
(P800L +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
(R56W +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(V1018M +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(N14K +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(G871S +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Deletion
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
(H424R +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GUncertain significance
ATP1A3
(K628E +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
(S14L)
Single nucleotide variant
(missense variant +1 more)
Dystonia 12
GUncertain significance
ATP1A3
(I443M +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
(R353C +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(splice acceptor variant)
Dystonia 12
GLikely pathogenic
ATP1A3
(W408R +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
(R19S +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(V553L +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GUncertain significance
ATP1A3
(K19N +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Deletion
(inframe_deletion +1 more)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(L968fs +2 more)
Deletion
(frameshift variant)
Dystonia 12
GPathogenic
ATP1A3
(A734P +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GPathogenic
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(E222D +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
(T13fs)
Deletion
(frameshift variant +1 more)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(A500G +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3, LOC130064543
Single nucleotide variant
(synonymous variant)
Dystonia 12
GUncertain significance
ATP1A3
(A618D +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant +1 more)
Dystonia 12
GLikely benign
ATP1A3
(L326P +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GLikely pathogenic
ATP1A3
(V679A +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
(H210Q +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(S276T +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(Q527H +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
(R896S +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
(V288M +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
(E451K +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
(L823V +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(splice acceptor variant)
Dystonia 12
GLikely pathogenic
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
GLikely benign
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