C2675473[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932044	NM_006772.3(SYNGAP1):c.1253_1254del (p.Lys418fs)	SYNGAP1, SYNGAP1-AS1 (K418fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	Pointed chin +15 more	GPathogenic/Likely pathogenic
Select item 373940	NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 930674	NM_006772.3(SYNGAP1):c.2337-7C>G	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 655662	NM_006772.3(SYNGAP1):c.2591C>T (p.Ala864Val)	SYNGAP1, SYNGAP1-AS1 (A850V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 373952	NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)	SYNGAP1, SYNGAP1-AS1 (P1053fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 931075	NM_006772.3(SYNGAP1):c.3731G>A (p.Ser1244Asn)	SYNGAP1, SYNGAP1-AS1 (S1228N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 469159	NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp)	SYNGAP1, SYNGAP1-AS1 (E1286D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity