"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981381	NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)	SYNGAP1, SYNGAP1-AS1 (W308C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 981441	NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser)	SYNGAP1-AS1, SYNGAP1 (F420S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 421734	NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)	SYNGAP1, SYNGAP1-AS1 (R573W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +2 more	GConflicting classifications of pathogenicity
Select item 981415	NM_006772.3(SYNGAP1):c.1760G>C (p.Arg587Thr)	SYNGAP1, SYNGAP1-AS1 (R587T)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 41460	NM_006772.3(SYNGAP1):c.2294+1G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 224094	NM_006772.3(SYNGAP1):c.3583-6G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5 +3 more	GConflicting classifications of pathogenicity

ClinVar