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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPJ, RNF17
(E1235V)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 6, primary, autosomal recessive
GPathogenic
RNF17, CENPJ
(N1102S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity