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Items: 1 to 100 of 199

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL23, KLHL41
+488 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+224 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
ABI2, AGPS
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
LOC129935258, LOC129935259
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
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
Duplication
(3 prime UTR variant)
Dystonic disorder
GBenign
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Microsatellite
(3 prime UTR variant)
Dystonic disorder
GBenign
PRKRA, CHROMR
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
GUncertain significance
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
+1 more
GBenign
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
CHROMR, PRKRA
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
GLikely benign
LOC126806421, LOC126806422
+17 more
Duplication
Dystonia 16
GUncertain significance
PRKRA, CHROMR
Single nucleotide variant
(3 prime UTR variant)
Dystonia 16
+1 more
GBenign
CHROMR, PRKRA
(I195T +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
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CHROMR, PRKRA
(H260R +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
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
(L160F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHROMR, PRKRA
(N242S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(A266T +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GConflicting classifications of pathogenicity
PRKRA, CHROMR
(S265R +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
PRKRA, CHROMR
Insertion
(splice acceptor variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHROMR, PRKRA
Duplication
(intron variant)
Dystonia 16
GBenign
CHROMR, PRKRA
Deletion
(intron variant)
Dystonia 16
GBenign/Likely benign
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GUncertain significance
PRKRA, CHROMR
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
CHROMR, PRKRA
(I256V +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(S235T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CHROMR, PRKRA
(N202S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
CHROMR, PRKRA
(I226N +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CHROMR, PRKRA
(P222L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CHROMR, PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GConflicting classifications of pathogenicity
CHROMR, PRKRA
(C100F +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GPathogenic/Likely pathogenic
CHROMR, PRKRA
(C100R +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA, CHROMR
(V181I +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
Insertion
(splice acceptor variant)
Dystonia 16
GLikely pathogenic
CHROMR, PRKRA
Microsatellite
(intron variant)
Dystonic disorder
+2 more
GBenign/Likely benign
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
CHROMR, PRKRA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
+1 more
GBenign/Likely benign
PRKRA
(N194S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
(S80T +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GBenign/Likely benign
PRKRA
(Q66* +3 more)
Single nucleotide variant
(nonsense)
Dystonia 16
GUncertain significance
PRKRA
Insertion
(splice acceptor variant)
not provided
GUncertain significance
PRKRA
Deletion
(intron variant)
Dystonic disorder
+2 more
GBenign/Likely benign
PRKRA
Duplication
(intron variant)
not provided
GBenign
PRKRA
Duplication
(intron variant)
not provided
GBenign
PRKRA
Duplication
(intron variant)
not provided
GLikely benign
PRKRA
Deletion
(intron variant)
not provided
GBenign
PRKRA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PRKRA
Deletion
(intron variant)
not provided
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(splice donor variant)
Dystonia 16
GUncertain significance
PRKRA
(S142L +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GBenign
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GUncertain significance
PRKRA
Insertion
(intron variant)
Dystonic disorder
GUncertain significance
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PRKRA
Single nucleotide variant
(intron variant)
not provided
GBenign
PRKRA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PRKRA
(P127L +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GBenign
PRKRA
(N126S +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(synonymous variant)
Dystonia 16
GLikely benign
PRKRA
(P112R +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
(F107L +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
GUncertain significance
PRKRA
Single nucleotide variant
(intron variant)
Dystonia 16
GUncertain significance
PRKRA
Duplication
(intron variant)
not provided
GLikely benign
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