ClinVar for Gene (Select 100847012) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2982487	NM_006772.3(SYNGAP1):c.1402A>G (p.Met468Val)	MIR5004, SYNGAP1 +1 more (M468V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2912281	NM_006772.3(SYNGAP1):c.1387-19G>C	MIR5004, SYNGAP1 +1 more	Single nucleotide variant (intron variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2731220	NM_006772.3(SYNGAP1):c.1387-8G>T	MIR5004, SYNGAP1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 1805311	NM_006772.3(SYNGAP1):c.1393_1395dup (p.Leu465_Ser466insLeu)	MIR5004, SYNGAP1 +1 more	Duplication (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 1716596	NM_006772.3(SYNGAP1):c.1390T>G (p.Phe464Val)	MIR5004, SYNGAP1 +1 more (F464V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1225903	NM_006772.3(SYNGAP1):c.1386+60T>C	MIR5004, SYNGAP1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1176817	NM_006772.3(SYNGAP1):c.1393dup (p.Leu465fs)	MIR5004, SYNGAP1 +1 more (L465fs)	Duplication (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1067821	NM_006772.3(SYNGAP1):c.1394T>C (p.Leu465Pro)	MIR5004, SYNGAP1 +1 more (L465P)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 1012769	NM_006772.3(SYNGAP1):c.1393C>G (p.Leu465Val)	MIR5004, SYNGAP1 +1 more (L465V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 987236	NM_006772.3(SYNGAP1):c.1387-2del	MIR5004, SYNGAP1 +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 982619	NM_006772.3(SYNGAP1):c.1403T>C (p.Met468Thr)	MIR5004, SYNGAP1 +1 more (M468T)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 864681	NM_006772.3(SYNGAP1):c.1387-8G>A	MIR5004, SYNGAP1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 642691	NM_006772.3(SYNGAP1):c.1403T>A (p.Met468Lys)	MIR5004, SYNGAP1 +1 more (M468K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 373062	NM_006772.3(SYNGAP1):c.1393del (p.Leu465fs)	MIR5004, SYNGAP1 +1 more (L465fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic