Related gene-specific medical variations for Gene (Select 8831) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253736	NM_006772.3(SYNGAP1):c.3138dup (p.Ser1047fs)	SYNGAP1, SYNGAP1-AS1 (S1033fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 3253563	NM_006772.3(SYNGAP1):c.2774del (p.Leu925fs)	SYNGAP1, SYNGAP1-AS1 (L911fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3253368	NM_006772.3(SYNGAP1):c.2567A>G (p.Asn856Ser)	SYNGAP1, SYNGAP1-AS1 (N842S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253190	NM_006772.3(SYNGAP1):c.3167dup (p.Ser1057fs)	SYNGAP1-AS1, SYNGAP1 (S1043fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3253126	NM_006772.3(SYNGAP1):c.1995T>G (p.Tyr665Ter)	SYNGAP1, SYNGAP1-AS1 (Y665*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3246018	NC_000006.11:g.(?_33406026)_(33416171_?)del	SYNGAP1	Deletion	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3246016	NC_000006.11:g.(?_33388042)_(33419683_?)dup	SYNGAP1	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3235087	NM_006772.3(SYNGAP1):c.1082A>C (p.Gln361Pro)	SYNGAP1, SYNGAP1-AS1 (Q361P)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3233535	NM_006772.3(SYNGAP1):c.3751C>T (p.Gln1251Ter)	SYNGAP1, SYNGAP1-AS1 (Q1235* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3172764	NM_006772.3(SYNGAP1):c.3136C>G (p.Pro1046Ala)	SYNGAP1, SYNGAP1-AS1 (P1032A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172763	NM_006772.3(SYNGAP1):c.2914C>G (p.Pro972Ala)	SYNGAP1, SYNGAP1-AS1 (P958A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172762	NM_006772.3(SYNGAP1):c.1784T>C (p.Leu595Pro)	SYNGAP1, SYNGAP1-AS1 (L595P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172761	NM_006772.3(SYNGAP1):c.1564G>T (p.Glu522Ter)	SYNGAP1, SYNGAP1-AS1 (E522*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3172759	NM_006772.3(SYNGAP1):c.1513T>G (p.Tyr505Asp)	SYNGAP1, SYNGAP1-AS1 (Y505D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3068461	NM_006772.3(SYNGAP1):c.1058T>C (p.Leu353Pro)	SYNGAP1, SYNGAP1-AS1 (L353P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3065694	NM_006772.3(SYNGAP1):c.1483G>A (p.Glu495Lys)	SYNGAP1, SYNGAP1-AS1 (E495K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3064755	NM_006772.3(SYNGAP1):c.2337-6T>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3064222	NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro)	SYNGAP1, SYNGAP1-AS1 (L451P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 3064221	NM_006772.3(SYNGAP1):c.2014del (p.Thr672fs)	SYNGAP1, SYNGAP1-AS1 (T672fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3064220	NM_006772.3(SYNGAP1):c.2116-1G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3064219	NM_006772.3(SYNGAP1):c.3432_3433insCCAC (p.Asn1145fs)	SYNGAP1, SYNGAP1-AS1 (N1131fs +1 more)	Insertion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3064218	NM_006772.3(SYNGAP1):c.1513T>C (p.Tyr505His)	SYNGAP1, SYNGAP1-AS1 (Y505H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 3064217	NM_006772.3(SYNGAP1):c.1219del (p.Gln407fs)	SYNGAP1, SYNGAP1-AS1 (Q407fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
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 3061295	NM_006772.3(SYNGAP1):c.3125_3138del (p.Gln1042fs)	SYNGAP1, SYNGAP1-AS1 (Q1028fs +1 more)	Deletion (frameshift variant)	SYNGAP1-related disorder	GLikely pathogenic
Select item 3029864	NM_006772.3(SYNGAP1):c.3409-9T>C	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	SYNGAP1-related disorder	GLikely benign
Select item 3022662	NM_006772.3(SYNGAP1):c.3793A>C (p.Arg1265=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3014019	NM_006772.3(SYNGAP1):c.3528A>G (p.Glu1176=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 3011794	NM_006772.3(SYNGAP1):c.4020C>T (p.Thr1340=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely benign
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 3009797	NM_006772.3(SYNGAP1):c.2116-13C>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 3007819	NM_006772.3(SYNGAP1):c.2502G>C (p.Met834Ile)	SYNGAP1, SYNGAP1-AS1 (M834I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3003865	NM_006772.3(SYNGAP1):c.1245G>A (p.Glu415=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 3003759	NM_006772.3(SYNGAP1):c.2523G>A (p.Val841=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 3000576	NM_006772.3(SYNGAP1):c.2823C>T (p.Pro941=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2998513	NM_006772.3(SYNGAP1):c.3111C>T (p.Ile1037=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2997332	NM_006772.3(SYNGAP1):c.2007T>C (p.Asn669=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2995856	NM_006772.3(SYNGAP1):c.2101C>T (p.Pro701Ser)	SYNGAP1, SYNGAP1-AS1 (P701S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2993122	NM_006772.3(SYNGAP1):c.3233T>A (p.Val1078Asp)	SYNGAP1, SYNGAP1-AS1 (V1064D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2988137	NM_006772.3(SYNGAP1):c.2295-13C>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2986267	NM_006772.3(SYNGAP1):c.3903C>A (p.Pro1301=)	SYNGAP1, SYNGAP1-AS1 (P1285H)	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2984966	NM_006772.3(SYNGAP1):c.1067G>A (p.Arg356His)	SYNGAP1, SYNGAP1-AS1 (R356H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely benign
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 2982261	NM_006772.3(SYNGAP1):c.2337-1G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 2980241	NM_006772.3(SYNGAP1):c.1918A>T (p.Thr640Ser)	SYNGAP1, SYNGAP1-AS1 (T640S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2979632	NM_006772.3(SYNGAP1):c.2294G>A (p.Ser765Asn)	SYNGAP1, SYNGAP1-AS1 (S765N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
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 2972082	NM_006772.3(SYNGAP1):c.2103C>G (p.Pro701=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2968862	NM_006772.3(SYNGAP1):c.3980C>T (p.Pro1327Leu)	SYNGAP1, SYNGAP1-AS1 (P1327L)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2967461	NM_006772.3(SYNGAP1):c.3379G>C (p.Gly1127Arg)	SYNGAP1, SYNGAP1-AS1 (G1113R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2966994	NM_006772.3(SYNGAP1):c.2521G>A (p.Val841Met)	SYNGAP1, SYNGAP1-AS1 (V827M +1 more)	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 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 2963386	NM_006772.3(SYNGAP1):c.3023A>G (p.Asp1008Gly)	SYNGAP1, SYNGAP1-AS1 (D1008G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2963307	NM_006772.3(SYNGAP1):c.3957C>T (p.Ala1319=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2959355	NM_006772.3(SYNGAP1):c.2324G>C (p.Arg775Pro)	SYNGAP1, SYNGAP1-AS1 (R775P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 5	GBenign
Select item 2957610	NM_006772.3(SYNGAP1):c.2400T>C (p.Gly800=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous 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 2956409	NM_006772.3(SYNGAP1):c.1957C>T (p.Leu653=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2955514	NM_006772.3(SYNGAP1):c.1532-13C>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2920684	NM_006772.3(SYNGAP1):c.1516C>T (p.Leu506Phe)	SYNGAP1, SYNGAP1-AS1 (L506F)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2917638	NM_006772.3(SYNGAP1):c.2765G>A (p.Arg922Gln)	SYNGAP1, SYNGAP1-AS1 (R922Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2915132	NM_006772.3(SYNGAP1):c.2294+3G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GBenign
Select item 2912797	NM_006772.3(SYNGAP1):c.3310C>T (p.Pro1104Ser)	SYNGAP1, SYNGAP1-AS1 (P1090S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GBenign
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 2907366	NM_006772.3(SYNGAP1):c.2115+1G>C	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2904880	NM_006772.3(SYNGAP1):c.1532-3C>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2904850	NM_006772.3(SYNGAP1):c.2650C>T (p.Arg884Trp)	SYNGAP1, SYNGAP1-AS1 (R870W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2903524	NM_006772.3(SYNGAP1):c.2336+9C>T	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2898391	NM_006772.3(SYNGAP1):c.3885+8T>C	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2898278	NM_006772.3(SYNGAP1):c.3202T>C (p.Leu1068=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2898070	NM_006772.3(SYNGAP1):c.2098C>T (p.Leu700=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2896479	NM_006772.3(SYNGAP1):c.2560C>T (p.Arg854Cys)	SYNGAP1, SYNGAP1-AS1 (R840C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2894122	NM_006772.3(SYNGAP1):c.2401G>A (p.Gly801Ser)	SYNGAP1, SYNGAP1-AS1 (G787S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2894047	NM_006772.3(SYNGAP1):c.3817C>T (p.Leu1273=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2885853	NM_006772.3(SYNGAP1):c.1424G>A (p.Arg475Gln)	SYNGAP1, SYNGAP1-AS1 (R475Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GUncertain significance
Select item 2882770	NM_006772.3(SYNGAP1):c.2282G>A (p.Arg761Gln)	SYNGAP1, SYNGAP1-AS1 (R761Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2876247	NM_006772.3(SYNGAP1):c.2472C>T (p.Ser824=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2875625	NM_006772.3(SYNGAP1):c.1436G>A (p.Arg479Gln)	SYNGAP1, SYNGAP1-AS1 (R479Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2875529	NM_006772.3(SYNGAP1):c.1345A>G (p.Ser449Gly)	SYNGAP1, SYNGAP1-AS1 (S449G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2871723	NM_006772.3(SYNGAP1):c.3307C>T (p.Arg1103Cys)	SYNGAP1, SYNGAP1-AS1 (R1103C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2871186	NM_006772.3(SYNGAP1):c.3408+7G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2870761	NM_006772.3(SYNGAP1):c.2359C>T (p.Pro787Ser)	SYNGAP1, SYNGAP1-AS1 (P773S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2866171	NM_006772.3(SYNGAP1):c.2216A>T (p.Glu739Val)	SYNGAP1, SYNGAP1-AS1 (E739V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2863582	NM_006772.3(SYNGAP1):c.3057T>G (p.Arg1019=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2863581	NM_006772.3(SYNGAP1):c.3055del (p.Arg1019fs)	SYNGAP1, SYNGAP1-AS1 (R1019fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2862146	NM_006772.3(SYNGAP1):c.2294+12G>C	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2860551	NM_006772.3(SYNGAP1):c.2970del (p.Val992fs)	SYNGAP1, SYNGAP1-AS1 (V978fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2859948	NM_006772.3(SYNGAP1):c.2550del (p.Pro851fs)	SYNGAP1, SYNGAP1-AS1 (P851fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2858674	NM_006772.3(SYNGAP1):c.1677-3C>G	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GPathogenic
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 2851884	NM_006772.3(SYNGAP1):c.2825C>T (p.Pro942Leu)	SYNGAP1, SYNGAP1-AS1 (P942L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2849950	NM_006772.3(SYNGAP1):c.3423A>C (p.Pro1141=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2846719	NM_006772.3(SYNGAP1):c.3305C>T (p.Ala1102Val)	SYNGAP1, SYNGAP1-AS1 (A1088V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GBenign
Select item 2846706	NM_006772.3(SYNGAP1):c.4021G>T (p.Ala1341Ser)	SYNGAP1, SYNGAP1-AS1 (A1341S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2842559	NM_006772.3(SYNGAP1):c.1147G>T (p.Gly383Trp)	SYNGAP1, SYNGAP1-AS1 (G383W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2842522	NM_006772.3(SYNGAP1):c.2037T>C (p.Phe679=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2841414	NM_006772.3(SYNGAP1):c.1629G>A (p.Leu543=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign
Select item 2840259	NM_006772.3(SYNGAP1):c.3123C>A (p.Pro1041=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GLikely benign

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