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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLK4
(V54I +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly and chorioretinopathy 2
+1 more
GUncertain significance
PLK4
(E789D +2 more)
Single nucleotide variant
(missense variant)
Microcephaly and chorioretinopathy 2
+1 more
GBenign
PLK4
(S191T +2 more)
Single nucleotide variant
(missense variant)
Microcephaly and chorioretinopathy 2
+1 more
GBenign
PLK4
Single nucleotide variant
(synonymous variant)
Microcephaly and chorioretinopathy 2
+1 more
GLikely benign
PLK4
(E749K +2 more)
Single nucleotide variant
(missense variant)
Microcephaly and chorioretinopathy 2
+1 more
GUncertain significance
PLK4
(N59S +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly and chorioretinopathy 2
GUncertain significance
PLK4
Single nucleotide variant
(splice donor variant)
Microcephaly and chorioretinopathy 2
GLikely pathogenic
PLK4
Single nucleotide variant
(intron variant)
Microcephaly and chorioretinopathy 2
+1 more
GUncertain significance
PLK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PLK4
(K277R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PLK4
(F392fs +2 more)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
PLK4
Single nucleotide variant
(intron variant)
Microcephaly and chorioretinopathy 2
GPathogenic
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