C2675473[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375528	NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)	SYNGAP1 (R170Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GPathogenic/Likely pathogenic
Select item 1333206	NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter)	SYNGAP1 (W242*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 1333371	NM_006772.3(SYNGAP1):c.847del (p.Glu283fs)	SYNGAP1, SYNGAP1-AS1 (E283fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 2572558	NM_006772.3(SYNGAP1):c.971G>A (p.Arg324Gln)	SYNGAP1, SYNGAP1-AS1 (R324Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GUncertain significance
Select item 2827407	NM_006772.3(SYNGAP1):c.1474A>G (p.Lys492Glu)	SYNGAP1, SYNGAP1-AS1 (K492E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GConflicting classifications of pathogenicity
Select item 2444064	NM_006772.3(SYNGAP1):c.1714T>G (p.Trp572Gly)	SYNGAP1, SYNGAP1-AS1 (W572G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
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 6394	NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs)	SYNGAP1, SYNGAP1-AS1 (L799fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1184918	NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs)	SYNGAP1, SYNGAP1-AS1 (S1033fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1401359	NM_006772.3(SYNGAP1):c.3685C>T (p.Gln1229Ter)	SYNGAP1, SYNGAP1-AS1 (Q1229* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5	GPathogenic