C2675473[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436910	NM_006772.3(SYNGAP1):c.67+3A>C	SYNGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1029086	NM_006772.3(SYNGAP1):c.127G>A (p.Gly43Ser)	SYNGAP1 (G43S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2436907	NM_006772.3(SYNGAP1):c.314C>T (p.Ser105Leu)	SYNGAP1 (S105L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 691275	NM_006772.3(SYNGAP1):c.388-3C>G	SYNGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 537006	NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=)	SYNGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GConflicting classifications of pathogenicity
Select item 2436908	NM_006772.3(SYNGAP1):c.453C>A (p.Asp151Glu)	SYNGAP1 (D151E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 373327	NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)	SYNGAP1 (R164*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic/Likely pathogenic
Select item 392790	NM_006772.3(SYNGAP1):c.509+5A>C	SYNGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 2436906	NM_006772.3(SYNGAP1):c.791T>A (p.Leu264Gln)	SYNGAP1, SYNGAP1-AS1 (L264Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1709388	NM_006772.3(SYNGAP1):c.815G>A (p.Arg272Gln)	SYNGAP1-AS1, SYNGAP1 (R272Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 411566	NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)	SYNGAP1, SYNGAP1-AS1 (G391fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1325166	NM_006772.3(SYNGAP1):c.1312del (p.Ala438fs)	SYNGAP1, SYNGAP1-AS1 (A438fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 537002	NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr)	SYNGAP1, SYNGAP1-AS1 (A438T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 589847	NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5 +2 more	GBenign/Likely benign
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 1323672	NM_006772.3(SYNGAP1):c.2538dup (p.Gln847fs)	SYNGAP1, SYNGAP1-AS1 (Q833fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2436909	NM_006772.3(SYNGAP1):c.2594_2602del (p.Ala865_Gly867del)	SYNGAP1, SYNGAP1-AS1	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1435418	NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val)	SYNGAP1, SYNGAP1-AS1 (A904V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GUncertain significance
Select item 579790	NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser)	SYNGAP1, SYNGAP1-AS1 (P1041S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GConflicting classifications of pathogenicity
Select item 817236	NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs)	SYNGAP1-AS1, SYNGAP1 (S1108fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325165	NM_006772.3(SYNGAP1):c.3534C>A (p.Tyr1178Ter)	SYNGAP1, SYNGAP1-AS1 (Y1164* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 1378951	NM_006772.3(SYNGAP1):c.3572G>A (p.Arg1191Gln)	SYNGAP1, SYNGAP1-AS1 (R1191Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2690485	NM_006772.3(SYNGAP1):c.3962dup (p.Ala1322fs)	SYNGAP1, SYNGAP1-AS1 (A1322fs)	Duplication (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 837815	NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr)	SYNGAP1, SYNGAP1-AS1 (A1341T)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 5	GUncertain significance

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Items: 24