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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRRK2
(S383R)
Single nucleotide variant
(missense variant)
Parkinson disease
GUncertain significance
RFC1
Indel
Parkinson disease
GPathogenic
LRRK2
(N1437S)
Single nucleotide variant
(missense variant)
Parkinson disease
+1 more
GConflicting classifications of pathogenicity
VPS35
Deletion
(intron variant)
Parkinson disease 17
+1 more
GBenign
TNR
(C155S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease
GUncertain significance
TNR
(T166A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease
+2 more
GConflicting classifications of pathogenicity
TNR
(N180H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease
+1 more
GConflicting classifications of pathogenicity
TNR
(R578* +1 more)
Single nucleotide variant
(nonsense)
Parkinson disease
GUncertain significance
TNR
(T592A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TNK2
(V363A +2 more)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease
GUncertain significance
TNK2
(R877H +5 more)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease
+2 more
GConflicting classifications of pathogenicity
TNK2
(A977V +6 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson disease
GUncertain significance
VPS13C
(Q1550fs +1 more)
Deletion
(frameshift variant)
Parkinson disease
GPathogenic
VPS13C
(G1389R +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease
+1 more
GPathogenic/Likely pathogenic
VPS13C
(E3190* +1 more)
Single nucleotide variant
(nonsense)
Parkinson disease
GPathogenic
VPS13C
(R226fs +1 more)
Insertion
(frameshift variant)
Parkinson disease
GPathogenic
VPS13C
Single nucleotide variant
(splice donor variant)
Parkinson disease
GPathogenic
TNK2
(V638M +5 more)
Single nucleotide variant
(missense variant +1 more)
Infantile epilepsy
+3 more
GConflicting classifications of pathogenicity
LRRK2
(R1628P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(N409S +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+13 more
GPathogenic/Likely pathogenic; risk factor
LRRK2
(G2385R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity; risk factor
LRRK2
(G2019S)
Single nucleotide variant
(missense variant)
Young-onset Parkinson disease
+6 more
GPathogenic/Likely pathogenic; risk factor
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