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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHROMR, PRKRA
(G187R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRKRA
(T56I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRKRA
(A29T +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 16
+1 more
GUncertain significance
PRKRA
(S18T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PRKRA
(L13P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
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