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Links from MedGen

Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
PRKRA
(F43Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GBenign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
(C29F +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
Microsatellite
(inframe_insertion +1 more)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(splice donor variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(I195T +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
(E9K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(synonymous variant +1 more)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GUncertain significance
PRKRA
(S80T +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Duplication
(intron variant)
Dystonia 16
GBenign
PRKRA
(G13A +1 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
(I85V +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
(N194S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
(Q66* +3 more)
Single nucleotide variant
(nonsense)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(H260R +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
(R90S +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA, CHROMR
(V181I +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
(C100F +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GPathogenic/Likely pathogenic
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA, CHROMR
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
(G8V)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Deletion
(intron variant)
Dystonia 16
GBenign/Likely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GBenign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(N202S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
(Q26E +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
(A103V +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
(S142L +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(N290S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
(C77S +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
(E14K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Dystonia 16
GUncertain significance
PRKRA, CHROMR
(S265R +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
(M26K +2 more)
Single nucleotide variant
(missense variant +2 more)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
+1 more
GBenign/Likely benign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(synonymous variant +1 more)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(synonymous variant +1 more)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Insertion
(splice acceptor variant)
Dystonia 16
GLikely pathogenic
PRKRA
(A29T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PRKRA
(M1V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Dystonia 16
GUncertain significance
PRKRA
(F107L +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(N242S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
Insertion
(inframe_insertion +1 more)
Dystonia 16
GBenign
PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
+1 more
GBenign/Likely benign
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
(I16T +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GConflicting classifications of pathogenicity
CHROMR, PRKRA
(A266T +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GConflicting classifications of pathogenicity
PRKRA
(T53K +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(synonymous variant +1 more)
Dystonia 16
+1 more
GLikely benign
CHROMR, PRKRA
(C100R +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
(P11R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
(P112R +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
LOC126806421, LOC126806422
+17 more
Duplication
Dystonia 16
GUncertain significance
PRKRA
(N126S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(T204R +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(C284F +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(I256V +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
(M44T +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
Insertion
Dystonia 16
GBenign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PRKRA
(L86V +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PRKRA
Single nucleotide variant
Dystonic disorder
+1 more
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonia 16
GUncertain significance
PJVK, PRKRA
Single nucleotide variant
(5 prime UTR variant)
Dystonic disorder
+3 more
GBenign/Likely benign
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