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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP57
(R30W +2 more)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 2
GUncertain significance
CEP57
(S25P +2 more)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 2
GUncertain significance
CEP57
(N141S +2 more)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 2
+1 more
GUncertain significance
CEP57
(L191H +2 more)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 2
+1 more
GUncertain significance
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