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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKN
(C292R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GPathogenic/Likely pathogenic
PRKN
(R275W +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
PRKN
(P113fs)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PRKN
(R104W)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GUncertain significance
PRKN
(V15A)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PACRG, PRKN
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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