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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPE
(S2275N +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CENPE
(E1679K +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 13, primary, autosomal recessive
+1 more
GUncertain significance
CENPE
Single nucleotide variant
(intron variant)
Microcephaly 13, primary, autosomal recessive
GUncertain significance
CENPE
(H102Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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