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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKN
(P437L +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PRKN
(G430D +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
+4 more
GPathogenic/Likely pathogenic
PRKN
(E310D +2 more)
Single nucleotide variant
(missense variant)
Ovarian neoplasm
+3 more
GUncertain significance
PRKN
(R275W +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
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
(V157M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRKN
(P113fs)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PRKN
(P37L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKN
(Q34fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
PRKN
(V3E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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