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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP135
(K459fs)
Microsatellite
(frameshift variant)
Microcephaly 8, primary, autosomal recessive
GPathogenic
CEP135
(R955*)
Single nucleotide variant
(nonsense)
Microcephaly 8, primary, autosomal recessive
GPathogenic