"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 421734	NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)	SYNGAP1, SYNGAP1-AS1 (R573W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 689702	NM_006772.3(SYNGAP1):c.2047A>G (p.Ile683Val)	SYNGAP1, SYNGAP1-AS1 (I683V)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 620116	NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter)	SYNGAP1, SYNGAP1-AS1 (Q702*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 41460	NM_006772.3(SYNGAP1):c.2294+1G>A	SYNGAP1-AS1, SYNGAP1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1172661	NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)	SYNGAP1, SYNGAP1-AS1 (Q914* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic/Likely pathogenic
Select item 1172596	NM_006772.3(SYNGAP1):c.3233_3255del (p.Val1078fs)	SYNGAP1, SYNGAP1-AS1 (V1064fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 1050818	NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp)	SYNGAP1, SYNGAP1-AS1 (R1205W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1172636	NM_006772.3(SYNGAP1):c.3834dup (p.Ala1279fs)	SYNGAP1, SYNGAP1-AS1 (A1263fs +1 more)	Duplication (frameshift variant)	Intellectual disability	GPathogenic