ClinVar for Gene (Select 8831) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383902	NM_006772.3(SYNGAP1):c.1942T>C (p.Phe648Leu)	SYNGAP1, SYNGAP1-AS1 (F648L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383519	NM_006772.3(SYNGAP1):c.1240A>G (p.Met414Val)	SYNGAP1, SYNGAP1-AS1 (M414V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383053	NM_006772.3(SYNGAP1):c.3370G>T (p.Gly1124Ter)	SYNGAP1, SYNGAP1-AS1 (G1110* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3382867	NM_006772.3(SYNGAP1):c.2825dup (p.Gly943fs)	SYNGAP1, SYNGAP1-AS1 (G929fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3379672	NM_006772.3(SYNGAP1):c.2932C>T (p.Pro978Ser)	SYNGAP1, SYNGAP1-AS1 (P964S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377955	NM_006772.3(SYNGAP1):c.218G>A (p.Arg73Lys)	SYNGAP1 (R73K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377657	NM_006772.3(SYNGAP1):c.3192G>C (p.Gln1064His)	SYNGAP1, SYNGAP1-AS1 (Q1050H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3376068	NM_006772.3(SYNGAP1):c.719A>G (p.Asp240Gly)	SYNGAP1 (D240G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3374722	NM_006772.3(SYNGAP1):c.1971G>C (p.Trp657Cys)	SYNGAP1, SYNGAP1-AS1 (W657C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3373731	NM_006772.3(SYNGAP1):c.2557G>C (p.Gly853Arg)	SYNGAP1, SYNGAP1-AS1 (G839R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372185	NM_006772.3(SYNGAP1):c.3614T>C (p.Leu1205Pro)	SYNGAP1, SYNGAP1-AS1 (L1189P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3371921	NM_006772.3(SYNGAP1):c.1126G>T (p.Gly376Cys)	SYNGAP1, SYNGAP1-AS1 (G376C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371082	NM_006772.3(SYNGAP1):c.1157G>A (p.Gly386Glu)	SYNGAP1, SYNGAP1-AS1 (G386E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370287	NM_006772.3(SYNGAP1):c.1603dup (p.Ser535fs)	SYNGAP1, SYNGAP1-AS1 (S535fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3370174	NM_006772.3(SYNGAP1):c.1957C>G (p.Leu653Val)	SYNGAP1, SYNGAP1-AS1 (L653V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370044	NM_006772.3(SYNGAP1):c.67+5G>A	SYNGAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3368090	NM_006772.3(SYNGAP1):c.1370G>A (p.Ser457Asn)	SYNGAP1, SYNGAP1-AS1 (S457N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367304	NM_006772.3(SYNGAP1):c.387+3G>T	SYNGAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3366075	NM_006772.3(SYNGAP1):c.221G>A (p.Ser74Asn)	SYNGAP1 (S74N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365282	NM_006772.3(SYNGAP1):c.491G>A (p.Arg164Gln)	SYNGAP1 (R164Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364831	NM_006772.3(SYNGAP1):c.37A>G (p.Ile13Val)	SYNGAP1 (I13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364537	NM_006772.3(SYNGAP1):c.3056G>T (p.Arg1019Leu)	SYNGAP1, SYNGAP1-AS1 (R1005L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361968	NM_006772.3(SYNGAP1):c.498T>A (p.Ala166=)	SYNGAP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3361353	NM_006772.3(SYNGAP1):c.2914C>T (p.Pro972Ser)	SYNGAP1 (P958S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360083	NM_006772.3(SYNGAP1):c.223G>A (p.Glu75Lys)	SYNGAP1 (E75K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3359527	NM_006772.3(SYNGAP1):c.3773A>G (p.Gln1258Arg)	SYNGAP1 (Q1242R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3359331	NM_006772.3(SYNGAP1):c.1877T>C (p.Ile626Thr)	SYNGAP1 (I626T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359285	NM_006772.3(SYNGAP1):c.3862A>G (p.Lys1288Glu)	SYNGAP1 (K1272E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348989	NM_006772.3(SYNGAP1):c.2131C>G (p.Leu711Val)	SYNGAP1, SYNGAP1-AS1 (L711V)	Single nucleotide variant (missense variant)	SYNGAP1-related disorder	GUncertain significance
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 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 3344479	NM_006772.3(SYNGAP1):c.1511A>G (p.Lys504Arg)	SYNGAP1, SYNGAP1-AS1 (K504R)	Single nucleotide variant (missense variant)	SYNGAP1-related disorder	GUncertain significance
Select item 3343794	NM_006772.3(SYNGAP1):c.1633_1635dup (p.Met545_Cys546insMet)	SYNGAP1-AS1, SYNGAP1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3343686	NM_006772.3(SYNGAP1):c.3906G>C (p.Leu1302Phe)	SYNGAP1, SYNGAP1-AS1 (L1302F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343025	NM_006772.3(SYNGAP1):c.4006G>T (p.Glu1336Ter)	SYNGAP1, SYNGAP1-AS1 (E1336*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3343011	NM_006772.3(SYNGAP1):c.558G>C (p.Leu186Phe)	SYNGAP1 (L186F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340641	NM_006772.3(SYNGAP1):c.1366C>T (p.Gln456Ter)	SYNGAP1, SYNGAP1-AS1 (Q456*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340567	NM_006772.3(SYNGAP1):c.3188dup (p.Gln1064fs)	SYNGAP1, SYNGAP1-AS1 (Q1050fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3338078	NM_006772.3(SYNGAP1):c.692_693dup (p.Ala232fs)	SYNGAP1 (A232fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 3323943	NM_006772.3(SYNGAP1):c.136C>T (p.Pro46Ser)	SYNGAP1 (P46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323942	NM_006772.3(SYNGAP1):c.4008G>C (p.Glu1336Asp)	SYNGAP1, SYNGAP1-AS1 (E1336D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3257600	NM_006772.3(SYNGAP1):c.3162T>G (p.Gly1054=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255388	NM_006772.3(SYNGAP1):c.3794+1G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3253736	NM_006772.3(SYNGAP1):c.3138dup (p.Ser1047fs)	SYNGAP1-AS1, SYNGAP1 (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 3246017	NC_000006.11:g.(?_33415675)_(33422480_?)del	SYNGAP1, ZBTB9	Deletion	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3246016	NC_000006.11:g.(?_33388042)_(33419683_?)dup	SYNGAP1	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3246015	NC_000006.11:g.(?_33388042)_(33679463_?)del	ZBTB9, BAK1 +3 more	Deletion	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	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 3234728	NM_006772.3(SYNGAP1):c.467_479del (p.Phe156fs)	SYNGAP1 (F156fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 3079031	NM_001014433.2(CUTA):c.4A>T (p.Ile2Leu)	CUTA, SYNGAP1 (I2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3064224	NM_006772.3(SYNGAP1):c.531_532del (p.Phe177fs)	SYNGAP1 (F177fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3064223	NM_006772.3(SYNGAP1):c.712G>T (p.Glu238Ter)	SYNGAP1 (E238*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5	GPathogenic
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 3004688	NM_006772.3(SYNGAP1):c.603T>A (p.Asp201Glu)	SYNGAP1 (D201E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GBenign
Select item 3004622	NM_006772.3(SYNGAP1):c.68-15G>A	SYNGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GLikely benign
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 2995669	NM_006772.3(SYNGAP1):c.29G>A (p.Arg10Gln)	SYNGAP1 (R10Q)	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 2993054	NM_006772.3(SYNGAP1):c.73C>T (p.Arg25Trp)	SYNGAP1 (R25W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	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 (missense 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 (non-coding transcript 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

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