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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VRK1
(E381G)
Single nucleotide variant
(missense variant)
Congenital pontocerebellar hypoplasia type 1
GUncertain significance
VRK1
(T355R)
Single nucleotide variant
(missense variant)
Congenital pontocerebellar hypoplasia type 1
GUncertain significance
VRK1
(N281D)
Single nucleotide variant
(missense variant)
Congenital pontocerebellar hypoplasia type 1
GUncertain significance
VRK1
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1A
GLikely benign
VRK1
(R277K)
Single nucleotide variant
(missense variant)
Congenital pontocerebellar hypoplasia type 1
GUncertain significance
VRK1
(G10E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VRK1
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1A
GLikely benign
VRK1
(L165P)
Single nucleotide variant
(missense variant)
Congenital pontocerebellar hypoplasia type 1
GUncertain significance
VRK1
Deletion
(splice acceptor variant +1 more)
Congenital pontocerebellar hypoplasia type 1
GLikely pathogenic
VRK1
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1A
GLikely benign
VRK1
Single nucleotide variant
(synonymous variant)
Congenital pontocerebellar hypoplasia type 1
GLikely benign
VRK1
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1A
GLikely benign
VRK1
(R103H)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 1A
GUncertain significance
VRK1
(N234S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VRK1
Deletion
Congenital pontocerebellar hypoplasia type 1
GPathogenic
VRK1
(K357M)
Single nucleotide variant
(missense variant)
Congenital pontocerebellar hypoplasia type 1
GUncertain significance
VRK1
Deletion
Congenital pontocerebellar hypoplasia type 1
GPathogenic
VRK1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
VRK1
Deletion
Congenital pontocerebellar hypoplasia type 1
GPathogenic
VRK1
(V394I)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 1A
GUncertain significance
VRK1
(R103C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VRK1
(R3F)
Indel
(missense variant)
Congenital pontocerebellar hypoplasia type 1
+1 more
GUncertain significance
VRK1
Deletion
Congenital pontocerebellar hypoplasia type 1
GLikely pathogenic
VRK1
(G235D)
Single nucleotide variant
(missense variant)
Congenital pontocerebellar hypoplasia type 1
GUncertain significance
VRK1
(L341F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VRK1
(G176R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 1A
+1 more
GUncertain significance
VRK1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VRK1
(K301E)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 1A
+2 more
GUncertain significance
VRK1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
VRK1
(N294K)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 1A
+2 more
GConflicting classifications of pathogenicity
VRK1
(I384V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
VRK1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
VRK1
(M286I)
Single nucleotide variant
(missense variant)
VRK1-related condition
+4 more
GConflicting classifications of pathogenicity
VRK1
(R358*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
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