"GenomeConnect - Brain Gene Registry"[submitter] AND "SYNGAP1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 951934	NM_006772.3(SYNGAP1):c.190-2A>G	SYNGAP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 430456	NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)	SYNGAP1 (K114fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1030154	NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs)	SYNGAP1 (F218fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3064032	NM_006772.3(SYNGAP1):c.1022_1030delinsTA (p.Gly341fs)	SYNGAP1, SYNGAP1-AS1 (G341fs)	Indel (frameshift variant)	Intellectual disability, autosomal dominant 5 +1 more	Gnot provided
Select item 981240	NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser)	SYNGAP1, SYNGAP1-AS1 (G344S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic
Select item 1187644	NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter)	SYNGAP1, SYNGAP1-AS1 (Y428*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 817769	NM_006772.3(SYNGAP1):c.1296dup (p.Ala433fs)	SYNGAP1, SYNGAP1-AS1 (A433fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 130525	NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)	SYNGAP1, SYNGAP1-AS1 (L595fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 411589	NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)	SYNGAP1, SYNGAP1-AS1 (R621*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +2 more	GPathogenic
Select item 452569	NM_006772.3(SYNGAP1):c.2294+1G>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 620357	NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter)	SYNGAP1, SYNGAP1-AS1 (Q847* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2572013	NM_006772.3(SYNGAP1):c.2998A>G (p.Ile1000Val)	SYNGAP1, SYNGAP1-AS1 (I1000V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 225077	NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)	SYNGAP1, SYNGAP1-AS1 (R1240* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +2 more	GPathogenic