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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP135
(V213A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
CEP135
(R331S)
Single nucleotide variant
(missense variant)
Microcephaly 8, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
CEP135
(N820D)
Single nucleotide variant
(missense variant)
Microcephaly 8, primary, autosomal recessive
GUncertain significance
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