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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPM
(L3132R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ASPM
(Q1574*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive primary microcephaly
GLikely pathogenic