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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862877, PDE4C
(R183Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDE4C
(Y22C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ISYNA1, JAK3
+44 more
Duplication
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
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