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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKN
(W453* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PRKN
(C431F +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
Deletion
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
(V175fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PRKN
(Q311* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
Deletion
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
LOC126859869, LOC126859870
+2 more
Deletion
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
(R275W +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
PRKN
(T240M +2 more)
Single nucleotide variant
(missense variant)
Young-onset Parkinson disease
+3 more
GConflicting classifications of pathogenicity
PRKN
(T240R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
(C212Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRKN
(K211N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GPathogenic/Likely pathogenic
LOC126859871, PRKN
Deletion
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
LOC126859871, PRKN
(K161N)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
(A82E)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GBenign/Likely benign
PRKN
Deletion
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
(V56E)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GPathogenic
PRKN
(N52fs)
Deletion
(frameshift variant)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GPathogenic
PRKN
(Q34fs)
Deletion
(frameshift variant)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN, PACRG
Single nucleotide variant
(splice donor variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
LOC129999375, PODXL
(Q32fs)
Insertion
(frameshift variant)
Autosomal recessive juvenile Parkinson disease 2
GLikely pathogenic
PRKN
Deletion
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
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