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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRORP, PRORP-PSMA6
(S28fs +3 more)
Duplication
(frameshift variant)
Microcephaly
+9 more
GPathogenic/Likely pathogenic
PRORP, PRORP-PSMA6
(R445Q +3 more)
Single nucleotide variant
(missense variant)
Microcephaly
+9 more
GPathogenic/Likely pathogenic