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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063979, PIK3R2
(S234R)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
+2 more
GBenign
PIK3R2
(S313P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
PIK3R2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
PIK3R2
(A727T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
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