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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS16
Single nucleotide variant
(splice acceptor variant)
Dystonia 30
GLikely pathogenic
VPS16
Single nucleotide variant
(synonymous variant)
Dystonia 30
GUncertain significance
VPS16
(N364fs +1 more)
Deletion
(frameshift variant)
Dystonia 30
GUncertain significance
VPS16
(G44R)
Single nucleotide variant
(missense variant)
Dystonia 30
GUncertain significance
VPS16
(R262W)
Single nucleotide variant
(missense variant)
Dystonia 30
+1 more
GUncertain significance
PTPRA, VPS16
(N519fs +1 more)
Insertion
(5 prime UTR variant +1 more)
Dystonia 30
GLikely pathogenic
VPS16
(Y319* +1 more)
Single nucleotide variant
(nonsense)
Dystonia 30
+1 more
GLikely pathogenic
PTPRA, VPS16
Single nucleotide variant
(intron variant)
Dystonia 30
GUncertain significance
VPS16
(N52K)
Single nucleotide variant
(missense variant)
Dystonia 30
GPathogenic
VPS16
(K82fs)
Indel
(frameshift variant)
Dystonia 30
GPathogenic
VPS16
Single nucleotide variant
(splice donor variant)
Dystonia 30
GPathogenic
VPS16
(Y366fs)
Duplication
(frameshift variant +1 more)
Dystonia 30
GPathogenic
VPS16
(R187*)
Single nucleotide variant
(nonsense)
Dystonia 30
+1 more
GConflicting classifications of pathogenicity
PTPRA, VPS16
(R491* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
VPS16
(Y301* +1 more)
Single nucleotide variant
(nonsense)
VPS16-associated disorder
GPathogenic
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