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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VRK1
(P74H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VRK1
(R89Q)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 1A
+2 more
GConflicting classifications of pathogenicity
VRK1
(K121fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
VRK1
(N234S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VRK1
(R358*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
VRK1
(R387H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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