SYNGAP1-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1250851	NM_006772.3(SYNGAP1):c.763-265G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212652	NM_006772.3(SYNGAP1):c.763-122C>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593258	NM_006772.3(SYNGAP1):c.763-8C>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2957358	NM_006772.3(SYNGAP1):c.763-7A>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2813487	NM_006772.3(SYNGAP1):c.763-5G>C	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 1590265	NM_006772.3(SYNGAP1):c.763-5G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2504428	NM_006772.3(SYNGAP1):c.763-1G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2046411	NM_006772.3(SYNGAP1):c.765C>T (p.Asp255=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2584352	NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)	SYNGAP1, SYNGAP1-AS1 (N256S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 949697	NM_006772.3(SYNGAP1):c.773G>A (p.Arg258His)	SYNGAP1, SYNGAP1-AS1 (R258H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2014570	NM_006772.3(SYNGAP1):c.775C>T (p.Arg259Trp)	SYNGAP1, SYNGAP1-AS1 (R259W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1558185	NM_006772.3(SYNGAP1):c.780A>T (p.Val260=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 651597	NM_006772.3(SYNGAP1):c.781_784del (p.Asp261fs)	SYNGAP1, SYNGAP1-AS1 (D261fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 469163	NM_006772.3(SYNGAP1):c.786T>C (p.Asn262=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 545045	NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del)	SYNGAP1, SYNGAP1-AS1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 1615637	NM_006772.3(SYNGAP1):c.790C>T (p.Leu264=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
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 2964216	NM_006772.3(SYNGAP1):c.804C>T (p.Ile268=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2019732	NM_006772.3(SYNGAP1):c.812C>A (p.Ala271Asp)	SYNGAP1, SYNGAP1-AS1 (A271D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GPathogenic
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 749220	NM_006772.3(SYNGAP1):c.816G>A (p.Arg272=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2128524	NM_006772.3(SYNGAP1):c.819G>A (p.Glu273=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 1471608	NM_006772.3(SYNGAP1):c.819G>T (p.Glu273Asp)	SYNGAP1, SYNGAP1-AS1 (E273D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GBenign
Select item 872008	NM_006772.3(SYNGAP1):c.820C>T (p.Leu274=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810279	NM_006772.3(SYNGAP1):c.821T>A (p.Leu274Gln)	SYNGAP1, SYNGAP1-AS1 (L274Q)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1075097	NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs)	SYNGAP1, SYNGAP1-AS1 (K277fs)	Duplication (frameshift variant)	SYNGAP1-related disorder +2 more	GPathogenic
Select item 2033507	NM_006772.3(SYNGAP1):c.828C>T (p.Pro276=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 1204186	NM_006772.3(SYNGAP1):c.835C>T (p.Arg279Trp)	SYNGAP1, SYNGAP1-AS1 (R279W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804329	NM_006772.3(SYNGAP1):c.844T>A (p.Cys282Ser)	SYNGAP1, SYNGAP1-AS1 (C282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635755	NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)	SYNGAP1, SYNGAP1-AS1 (C282R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 3344808	NM_006772.3(SYNGAP1):c.851T>C (p.Leu284Pro)	SYNGAP1, SYNGAP1-AS1 (L284P)	Single nucleotide variant (missense variant)	SYNGAP1-related disorder	GLikely pathogenic
Select item 469164	NM_006772.3(SYNGAP1):c.857_864dup (p.Met289fs)	SYNGAP1, SYNGAP1-AS1 (M289fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2263930	NM_006772.3(SYNGAP1):c.859G>T (p.Asp287Tyr)	SYNGAP1, SYNGAP1-AS1 (D287Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1700054	NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His)	SYNGAP1, SYNGAP1-AS1 (D287H)	Single nucleotide variant (missense variant)	SYNGAP1-related developmental and epileptic encephalopathy	GLikely pathogenic
Select item 2826106	NM_006772.3(SYNGAP1):c.860A>C (p.Asp287Ala)	SYNGAP1, SYNGAP1-AS1 (D287A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2572204	NM_006772.3(SYNGAP1):c.862G>A (p.Asp288Asn)	SYNGAP1, SYNGAP1-AS1 (D288N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122760	NM_006772.3(SYNGAP1):c.865A>G (p.Met289Val)	SYNGAP1, SYNGAP1-AS1 (M289V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GBenign
Select item 3344984	NM_006772.3(SYNGAP1):c.866T>C (p.Met289Thr)	SYNGAP1, SYNGAP1-AS1 (M289T)	Single nucleotide variant (missense variant)	SYNGAP1-related disorder	GUncertain significance
Select item 1721897	NM_006772.3(SYNGAP1):c.872A>G (p.Tyr291Cys)	SYNGAP1, SYNGAP1-AS1 (Y291C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2500611	NM_006772.3(SYNGAP1):c.877C>T (p.Arg293Cys)	SYNGAP1, SYNGAP1-AS1 (R293C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 582839	NM_006772.3(SYNGAP1):c.878del (p.Arg293fs)	SYNGAP1, SYNGAP1-AS1 (R293fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 571092	NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro)	SYNGAP1, SYNGAP1-AS1 (R293P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 3010802	NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)	SYNGAP1, SYNGAP1-AS1	Indel (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 2855649	NM_006772.3(SYNGAP1):c.882C>T (p.Thr294=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 1455263	NM_006772.3(SYNGAP1):c.883_884del (p.Thr295fs)	SYNGAP1-AS1, SYNGAP1 (T295fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 469166	NM_006772.3(SYNGAP1):c.886T>G (p.Ser296Ala)	SYNGAP1, SYNGAP1-AS1 (S296A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2965590	NM_006772.3(SYNGAP1):c.892C>T (p.Pro298Ser)	SYNGAP1, SYNGAP1-AS1 (P298S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GBenign
Select item 1335623	NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys)	SYNGAP1, SYNGAP1-AS1 (R299C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 851544	NM_006772.3(SYNGAP1):c.896G>A (p.Arg299His)	SYNGAP1, SYNGAP1-AS1 (R299H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 217012	NM_006772.3(SYNGAP1):c.896del (p.Arg299fs)	SYNGAP1-AS1, SYNGAP1 (R299fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2122150	NM_006772.3(SYNGAP1):c.897C>T (p.Arg299=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 1309056	NM_006772.3(SYNGAP1):c.899C>T (p.Ser300Phe)	SYNGAP1, SYNGAP1-AS1 (S300F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809920	NM_006772.3(SYNGAP1):c.901G>A (p.Ala301Thr)	SYNGAP1, SYNGAP1-AS1 (A301T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +2 more	GUncertain significance
Select item 2757331	NM_006772.3(SYNGAP1):c.910G>A (p.Asp304Asn)	SYNGAP1, SYNGAP1-AS1 (D304N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1509894	NM_006772.3(SYNGAP1):c.913A>G (p.Thr305Ala)	SYNGAP1, SYNGAP1-AS1 (T305A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 754023	NM_006772.3(SYNGAP1):c.915C>T (p.Thr305=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2133125	NM_006772.3(SYNGAP1):c.917T>A (p.Val306Asp)	SYNGAP1, SYNGAP1-AS1 (V306D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 391294	NM_006772.3(SYNGAP1):c.922T>C (p.Trp308Arg)	SYNGAP1, SYNGAP1-AS1 (W308R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 987081	NM_006772.3(SYNGAP1):c.926del (p.Gly309fs)	SYNGAP1, SYNGAP1-AS1 (G309fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 981381	NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)	SYNGAP1, SYNGAP1-AS1 (W308C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2635962	NM_006772.3(SYNGAP1):c.927C>T (p.Gly309=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 981613	NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)	SYNGAP1, SYNGAP1-AS1 (E310K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2732842	NM_006772.3(SYNGAP1):c.929A>G (p.Glu310Gly)	SYNGAP1, SYNGAP1-AS1 (E310G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 1125352	NM_006772.3(SYNGAP1):c.930G>A (p.Glu310=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 975473	NM_006772.3(SYNGAP1):c.930G>C (p.Glu310Asp)	SYNGAP1, SYNGAP1-AS1 (E310D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 1090589	NM_006772.3(SYNGAP1):c.933C>T (p.His311=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 1064788	NM_006772.3(SYNGAP1):c.936dup (p.Glu313fs)	SYNGAP1, SYNGAP1-AS1 (E313fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 2973956	NM_006772.3(SYNGAP1):c.936C>T (p.Phe312=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 648805	NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter)	SYNGAP1, SYNGAP1-AS1 (E313*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic
Select item 704978	NM_006772.3(SYNGAP1):c.939G>A (p.Glu313=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 452492	NM_006772.3(SYNGAP1):c.949del (p.Leu317fs)	SYNGAP1-AS1, SYNGAP1 (L317fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 956570	NM_006772.3(SYNGAP1):c.953C>T (p.Pro318Leu)	SYNGAP1, SYNGAP1-AS1 (P318L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2637780	NM_006772.3(SYNGAP1):c.958G>A (p.Val320Ile)	SYNGAP1, SYNGAP1-AS1 (V320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1507484	NM_006772.3(SYNGAP1):c.958G>C (p.Val320Leu)	SYNGAP1, SYNGAP1-AS1 (V320L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2581018	NM_006772.3(SYNGAP1):c.961C>T (p.Arg321Cys)	SYNGAP1, SYNGAP1-AS1 (R321C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 1940706	NM_006772.3(SYNGAP1):c.962G>A (p.Arg321His)	SYNGAP1, SYNGAP1-AS1 (R321H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 978601	NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg)	SYNGAP1, SYNGAP1-AS1 (L323R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 845180	NM_006772.3(SYNGAP1):c.970C>T (p.Arg324Trp)	SYNGAP1, SYNGAP1-AS1 (R324W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
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 660421	NM_006772.3(SYNGAP1):c.980T>C (p.Leu327Pro)	SYNGAP1, SYNGAP1-AS1 (L327P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2074400	NM_006772.3(SYNGAP1):c.986G>A (p.Arg329His)	SYNGAP1, SYNGAP1-AS1 (R329H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 571977	NM_006772.3(SYNGAP1):c.1001del (p.Lys334fs)	SYNGAP1, SYNGAP1-AS1 (K334fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2835865	NM_006772.3(SYNGAP1):c.1003C>T (p.Arg335Cys)	SYNGAP1, SYNGAP1-AS1 (R335C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2005361	NM_006772.3(SYNGAP1):c.1004G>A (p.Arg335His)	SYNGAP1, SYNGAP1-AS1 (R335H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1310505	NM_006772.3(SYNGAP1):c.1006AAG[1] (p.Lys337del)	SYNGAP1, SYNGAP1-AS1 (K337del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 3064032	NM_006772.3(SYNGAP1):c.1022_1030delinsTA (p.Gly341fs)	SYNGAP1, SYNGAP1-AS1 (G341fs)	Indel (frameshift variant)	Intellectual disability, autosomal dominant 5 +1 more	Gnot provided
Select item 1075709	NM_006772.3(SYNGAP1):c.1022_1023del (p.Gly341fs)	SYNGAP1, SYNGAP1-AS1 (G341fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2062297	NM_006772.3(SYNGAP1):c.1025A>C (p.Tyr342Ser)	SYNGAP1, SYNGAP1-AS1 (Y342S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1213078	NM_006772.3(SYNGAP1):c.1025A>G (p.Tyr342Cys)	SYNGAP1, SYNGAP1-AS1 (Y342C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 1720242	NM_006772.3(SYNGAP1):c.1027G>A (p.Val343Ile)	SYNGAP1, SYNGAP1-AS1 (V343I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GUncertain significance
Select item 1136095	NM_006772.3(SYNGAP1):c.1029C>T (p.Val343=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 981240	NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser)	SYNGAP1, SYNGAP1-AS1 (G344S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic
Select item 1690995	NM_006772.3(SYNGAP1):c.1042G>A (p.Val348Met)	SYNGAP1, SYNGAP1-AS1 (V348M)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1305397	NM_006772.3(SYNGAP1):c.1045C>T (p.Pro349Ser)	SYNGAP1, SYNGAP1-AS1 (P349S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718355	NM_006772.3(SYNGAP1):c.1047A>G (p.Pro349=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 469144	NM_006772.3(SYNGAP1):c.1053del (p.Thr352fs)	SYNGAP1, SYNGAP1-AS1 (T352fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 590151	NM_006772.3(SYNGAP1):c.1055C>A (p.Thr352Asn)	SYNGAP1, SYNGAP1-AS1 (T352N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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