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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNGAP1, SYNGAP1-AS1
(R687*)
Single nucleotide variant
(nonsense)
Pointed chin
+15 more
GPathogenic/Likely pathogenic
PTPN11
(R501K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GPathogenic