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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP135
(N1040fs)
Deletion
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GPathogenic
CEP135
(K1043fs)
Deletion
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GLikely pathogenic