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Links from MedGen

Items: 1 to 100 of 183

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKN
(V15A)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
LOC126859871, PRKN
(R163K)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PACRG, PRKN
Duplication
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic
PRKN
(V175fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PRKN
(D184V)
Single nucleotide variant
(missense variant +1 more)
Lung cancer
+3 more
GUncertain significance
PRKN
(Q25*)
Single nucleotide variant
(nonsense)
Lung cancer
+3 more
GPathogenic/Likely pathogenic
PRKN
Deletion
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
(R156S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Duplication
(intron variant)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GBenign
LOC126859871, PRKN
(V164fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GLikely benign
PRKN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKN
(M406I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Inversion
(intron variant)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
Copy number loss
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
(C292R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GPathogenic/Likely pathogenic
PRKN
(H302Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRKN
(G118A)
Single nucleotide variant
(missense variant +1 more)
Lung cancer
+3 more
GUncertain significance
PRKN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
(S205N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PRKN
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
+2 more
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Lung cancer
+2 more
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GBenign
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GLikely benign
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GLikely benign
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PACRG, PRKN
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PACRG, PRKN
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PACRG, PRKN
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
(L244I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKN
(I149F +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(synonymous variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(synonymous variant)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GConflicting classifications of pathogenicity
PRKN
Single nucleotide variant
(synonymous variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
(A249V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
(T83A)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GUncertain significance
PRKN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GConflicting classifications of pathogenicity
PRKN
(R253H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRKN
(V456I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GLikely benign
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
(P37L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKN
(R104W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PRKN
(P113fs)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PRKN
Duplication
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
(W74fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PRKN
(M285T +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
GLikely pathogenic
PRKN
(Q34fs)
Deletion
(frameshift variant)
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PACRG, PRKN
(M1T)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GPathogenic/Likely pathogenic
PRKN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GConflicting classifications of pathogenicity
PRKN
Single nucleotide variant
(synonymous variant +1 more)
Neoplasm of ovary
+3 more
GLikely benign
PRKN
Single nucleotide variant
(synonymous variant)
Neoplasm of ovary
+3 more
GBenign/Likely benign
LOC126859871, PRKN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GConflicting classifications of pathogenicity
PRKN
Single nucleotide variant
(synonymous variant)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GLikely benign
LOC126859871, PACRG
+1 more
Duplication
not provided
GUncertain significance
PRKN
(Y239H +2 more)
Single nucleotide variant
(missense variant)
Neoplasm of ovary
+3 more
GUncertain significance
PRKN
(C253Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRKN
Duplication
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
Duplication
Autosomal recessive juvenile Parkinson disease 2
GPathogenic
PRKN
Deletion
not provided
GPathogenic
PRKN
Duplication
not provided
GPathogenic
PRKN
Duplication
Autosomal recessive juvenile Parkinson disease 2
GUncertain significance
PRKN
Duplication
not provided
GUncertain significance
PRKN
(D280N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive juvenile Parkinson disease 2
+1 more
GUncertain significance
PRKN
(R33Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PRKN
(E310D +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PRKN
(R256C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126859871, PRKN
Deletion
Autosomal recessive juvenile Parkinson disease 2
GLikely pathogenic
PRKN
Deletion
not provided
GPathogenic
PRKN
(N52fs)
Deletion
(frameshift variant)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GPathogenic
LOC126859871, PRKN
(P153R)
Single nucleotide variant
(intron variant +1 more)
not provided
+3 more
GBenign/Likely benign
PRKN
(A46T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
PRKN
(Q34R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PRKN
(R334H +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PRKN
Duplication
not provided
GPathogenic
PRKN
Deletion
not provided
GPathogenic
PRKN
Deletion
not provided
GPathogenic
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