ClinVar for Gene (Select 26999) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242068	NM_001037333.3(CYFIP2):c.992+7G>T	CYFIP2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 65	GUncertain significance
Select item 3239503	NM_001037333.3(CYFIP2):c.1106G>A (p.Ser369Asn)	CYFIP2 (S343N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235762	NM_001037333.3(CYFIP2):c.1523+5G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3096118	NM_001001343.4(FNDC9):c.64C>T (p.Pro22Ser)	CYFIP2, FNDC9 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079327	NM_001037333.3(CYFIP2):c.1625T>A (p.Phe542Tyr)	CYFIP2 (F542Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079326	NM_001037333.3(CYFIP2):c.1617A>C (p.Lys539Asn)	CYFIP2 (K539N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079325	NM_001037333.3(CYFIP2):c.1426A>G (p.Arg476Gly)	CYFIP2 (R476G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066046	NM_001037333.3(CYFIP2):c.2626C>T (p.Arg876Ter)	CYFIP2 (R850* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3064730	NM_001037333.3(CYFIP2):c.3730C>T (p.Pro1244Ser)	CYFIP2, NIPAL4-DT (P1218S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 65	GUncertain significance
Select item 3046319	NM_001037333.3(CYFIP2):c.1983-10C>G	CYFIP2	Single nucleotide variant (intron variant)	CYFIP2-related disorder	GLikely benign
Select item 3022142	NM_001037333.3(CYFIP2):c.2265+3A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021220	NM_001037333.3(CYFIP2):c.3112+13T>C	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019993	NM_001037333.3(CYFIP2):c.1152G>A (p.Glu384=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018749	NM_001037333.3(CYFIP2):c.3122G>A (p.Arg1041His)	CYFIP2, NIPAL4-DT (R1066H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3015497	NM_001037333.3(CYFIP2):c.388-5C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012146	NM_001037333.3(CYFIP2):c.796-18G>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012124	NM_001037333.3(CYFIP2):c.2722G>A (p.Val908Met)	CYFIP2 (V933M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011684	NM_001037333.3(CYFIP2):c.19C>T (p.Leu7=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008799	NM_001037333.3(CYFIP2):c.3113-10C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008489	NM_001037333.3(CYFIP2):c.3039+15del	CYFIP2	Deletion (intron variant)	not provided	GLikely benign
Select item 3007355	NM_001037333.3(CYFIP2):c.286-9C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006985	NM_001037333.3(CYFIP2):c.2444T>G (p.Met815Arg)	CYFIP2 (M789R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006816	NM_001037333.3(CYFIP2):c.3000C>T (p.Gly1000=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006750	NM_001037333.3(CYFIP2):c.3066C>T (p.Leu1022=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006618	NM_001037333.3(CYFIP2):c.2237A>C (p.Glu746Ala)	CYFIP2 (E771A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005963	NM_001037333.3(CYFIP2):c.3073G>A (p.Ala1025Thr)	CYFIP2, NIPAL4-DT (A1050T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005721	NM_001037333.3(CYFIP2):c.792C>T (p.Leu264=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005597	NM_001037333.3(CYFIP2):c.3039+18A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003521	NM_001037333.3(CYFIP2):c.3293G>A (p.Arg1098His)	CYFIP2, NIPAL4-DT (R1098H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001843	NM_001037333.3(CYFIP2):c.570-13A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000559	NM_001037333.3(CYFIP2):c.3515G>T (p.Arg1172Leu)	CYFIP2, LOC126807569 +1 more (R1197L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997831	NM_001037333.3(CYFIP2):c.1500G>C (p.Arg500=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995836	NM_001037333.3(CYFIP2):c.2022C>A (p.Ala674=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994926	NM_001037333.3(CYFIP2):c.3648G>A (p.Glu1216=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994007	NM_001037333.3(CYFIP2):c.2208C>G (p.Ile736Met)	CYFIP2 (I736M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991656	NM_001037333.3(CYFIP2):c.1116G>C (p.Val372=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991270	NM_001037333.3(CYFIP2):c.2535A>G (p.Glu845=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990491	NM_001037333.3(CYFIP2):c.504T>C (p.Phe168=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989887	NM_001037333.3(CYFIP2):c.2265+9A>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989215	NM_001037333.3(CYFIP2):c.1058G>A (p.Arg353Gln)	CYFIP2 (R353Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988508	NM_001037333.3(CYFIP2):c.2844G>A (p.Val948=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2987913	NM_001037333.3(CYFIP2):c.3383G>A (p.Arg1128Gln)	CYFIP2, NIPAL4-DT (R1153Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986342	NM_001037333.3(CYFIP2):c.1571G>A (p.Arg524Gln)	CYFIP2 (R498Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984514	NM_001037333.3(CYFIP2):c.1020C>T (p.Ser340=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984483	NM_001037333.3(CYFIP2):c.2266-12C>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983327	NM_001037333.3(CYFIP2):c.3198G>A (p.Gly1066=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981572	NM_001037333.3(CYFIP2):c.285+17_285+19del	CYFIP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2980561	NM_001037333.3(CYFIP2):c.3446+11C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975638	NM_001037333.3(CYFIP2):c.2727G>T (p.Gly909=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974874	NM_001037333.3(CYFIP2):c.1013G>C (p.Ser338Thr)	CYFIP2 (S338T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974555	NM_001037333.3(CYFIP2):c.1161C>T (p.Arg387=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974238	NM_001037333.3(CYFIP2):c.2781G>T (p.Val927=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972829	NM_001037333.3(CYFIP2):c.900+20G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971504	NM_001037333.3(CYFIP2):c.3446+13C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971351	NM_001037333.3(CYFIP2):c.2937G>T (p.Leu979=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971349	NM_001037333.3(CYFIP2):c.1983-6C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970600	NM_001037333.3(CYFIP2):c.3331C>T (p.Pro1111Ser)	CYFIP2, NIPAL4-DT (P1085S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970233	NM_001037333.3(CYFIP2):c.3291C>A (p.Thr1097=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969722	NM_001037333.3(CYFIP2):c.3325C>T (p.Arg1109Trp)	CYFIP2, NIPAL4-DT (R1134W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2966584	NM_001037333.3(CYFIP2):c.2908+9T>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966263	NM_001037333.3(CYFIP2):c.1110+7A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964048	NM_001037333.3(CYFIP2):c.3106A>G (p.Ile1036Val)	CYFIP2, NIPAL4-DT (I1036V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2963324	NM_001037333.3(CYFIP2):c.795+16G>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961514	NM_001037333.3(CYFIP2):c.1962C>G (p.Thr654=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961128	NM_001037333.3(CYFIP2):c.2385+15G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958793	NM_001037333.3(CYFIP2):c.1671+3A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956946	NM_001037333.3(CYFIP2):c.2385+12G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955825	NM_001037333.3(CYFIP2):c.3446+12C>A	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906343	NM_001037333.3(CYFIP2):c.2214G>T (p.Pro738=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903549	NM_001037333.3(CYFIP2):c.2295A>T (p.Arg765Ser)	CYFIP2 (R765S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892890	NM_001037333.3(CYFIP2):c.3105C>T (p.Tyr1035=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891771	NM_001037333.3(CYFIP2):c.1542A>C (p.Arg514=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891505	NM_001037333.3(CYFIP2):c.3156G>A (p.Lys1052=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887595	NM_001037333.3(CYFIP2):c.2156+8del	CYFIP2	Deletion (intron variant)	not provided	GLikely benign
Select item 2884773	NM_001037333.3(CYFIP2):c.1218C>T (p.His406=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879891	NM_001037333.3(CYFIP2):c.2908+10A>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878948	NM_001037333.3(CYFIP2):c.3521A>C (p.Asp1174Ala)	CYFIP2, LOC126807569 +1 more (D1174A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878892	NM_001037333.3(CYFIP2):c.1549A>G (p.Ile517Val)	CYFIP2 (I491V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876624	NM_001037333.3(CYFIP2):c.1390A>G (p.Met464Val)	CYFIP2 (M438V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875994	NM_001037333.3(CYFIP2):c.1017C>T (p.Ile339=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873872	NM_001037333.3(CYFIP2):c.1356+14C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873571	NM_001037333.3(CYFIP2):c.1356+11A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871441	NM_001037333.3(CYFIP2):c.3293G>T (p.Arg1098Leu)	CYFIP2, NIPAL4-DT (R1072L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869571	NM_001037333.3(CYFIP2):c.3514C>T (p.Arg1172Cys)	CYFIP2, LOC126807569 +1 more (R1146C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869310	NM_001037333.3(CYFIP2):c.2080-9C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869177	NM_001037333.3(CYFIP2):c.3595-19C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867827	NM_001037333.3(CYFIP2):c.1056C>A (p.Ile352=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867459	NM_001037333.3(CYFIP2):c.3039+12G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867080	NM_001037333.3(CYFIP2):c.3256T>G (p.Cys1086Gly)	CYFIP2, NIPAL4-DT (C1060G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864749	NM_001037333.3(CYFIP2):c.117+9A>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861954	NM_001037333.3(CYFIP2):c.3197G>A (p.Gly1066Glu)	CYFIP2, NIPAL4-DT (G1066E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861376	NM_001037333.3(CYFIP2):c.2156+1G>T	CYFIP2	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2856382	NM_001037333.3(CYFIP2):c.3018C>T (p.Cys1006=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854543	NM_001037333.3(CYFIP2):c.480C>T (p.Thr160=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852808	NM_001037333.3(CYFIP2):c.3291C>T (p.Thr1097=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851825	NM_001037333.3(CYFIP2):c.310C>T (p.Arg104Ter)	CYFIP2 (R104* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2850943	NM_001037333.3(CYFIP2):c.3703G>A (p.Val1235Met)	CYFIP2, NIPAL4-DT (V1209M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850738	NM_001037333.3(CYFIP2):c.117+15A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844607	NM_001037333.3(CYFIP2):c.2266-16C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843100	NM_001037333.3(CYFIP2):c.2585G>A (p.Arg862His)	CYFIP2 (R862H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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