"GeneDx"[submitter] AND "MIR5004"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1225903	NM_006772.3(SYNGAP1):c.1386+60T>C	MIR5004, SYNGAP1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 373062	NM_006772.3(SYNGAP1):c.1393del (p.Leu465fs)	MIR5004, SYNGAP1 +1 more (L465fs)	Deletion (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic