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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PINK1-AS, PINK1
(L268V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
+1 more
GUncertain significance
PINK1, PINK1-AS
(T313M)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GPathogenic/Likely pathogenic
PINK1, PINK1-AS
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PINK1, PINK1-AS
(D430H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(R492*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
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