ClinVar for Gene (Select 26999) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373363	NM_001037333.3(CYFIP2):c.722T>C (p.Ile241Thr)	CYFIP2 (I215T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373261	NM_001037333.3(CYFIP2):c.620C>T (p.Ser207Leu)	CYFIP2 (S207L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372225	NM_001037333.3(CYFIP2):c.3365A>T (p.Glu1122Val)	CYFIP2, NIPAL4-DT (E1096V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371748	NM_001037333.3(CYFIP2):c.3626A>C (p.Lys1209Thr)	CYFIP2, NIPAL4-DT (K1183T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371368	NM_001037333.3(CYFIP2):c.592A>G (p.Met198Val)	CYFIP2 (M172V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369980	NM_001037333.3(CYFIP2):c.1613C>T (p.Pro538Leu)	CYFIP2 (P512L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369846	NM_001037333.3(CYFIP2):c.3518T>C (p.Phe1173Ser)	LOC126807569, NIPAL4-DT +1 more (F1147S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369728	NM_001037333.3(CYFIP2):c.1057C>T (p.Arg353Trp)	CYFIP2 (R327W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369329	NM_001037333.3(CYFIP2):c.1051C>T (p.Gln351Ter)	CYFIP2 (Q325* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3368311	NM_001037333.3(CYFIP2):c.2504A>G (p.Tyr835Cys)	CYFIP2 (Y809C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367300	NM_001037333.3(CYFIP2):c.811C>T (p.Leu271Phe)	CYFIP2 (L245F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366021	NM_001037333.3(CYFIP2):c.2302A>T (p.Thr768Ser)	CYFIP2 (T742S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360779	NM_001037333.3(CYFIP2):c.715G>T (p.Ala239Ser)	CYFIP2 (A213S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360539	NM_001037333.3(CYFIP2):c.1327A>G (p.Thr443Ala)	CYFIP2 (T417A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360451	NM_001037333.3(CYFIP2):c.2385+2T>C	CYFIP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3360445	NM_001037333.3(CYFIP2):c.1349T>C (p.Phe450Ser)	CYFIP2 (F424S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354565	NM_001037333.3(CYFIP2):c.3223C>T (p.Arg1075Cys)	CYFIP2, NIPAL4-DT (R1049C +2 more)	Single nucleotide variant (missense variant)	CYFIP2-related disorder	GUncertain significance
Select item 3354203	NM_001037333.3(CYFIP2):c.3224G>A (p.Arg1075His)	CYFIP2, NIPAL4-DT (R1049H +2 more)	Single nucleotide variant (missense variant)	CYFIP2-related disorder	GUncertain significance
Select item 3346136	NM_001037333.3(CYFIP2):c.1209G>C (p.Trp403Cys)	CYFIP2 (W377C +1 more)	Single nucleotide variant (missense variant)	CYFIP2-related disorder	GUncertain significance
Select item 3345586	NM_001037333.3(CYFIP2):c.2908+5G>A	CYFIP2	Single nucleotide variant (intron variant)	CYFIP2-related disorder	GUncertain significance
Select item 3343901	NM_001037333.3(CYFIP2):c.1355A>T (p.Glu452Val)	CYFIP2 (E426V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343799	NM_001037333.3(CYFIP2):c.2818-12T>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3341448	NM_001037333.3(CYFIP2):c.3698C>G (p.Ser1233Cys)	CYFIP2, NIPAL4-DT (S1207C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 65	GUncertain significance
Select item 3279434	NM_001001343.4(FNDC9):c.179C>T (p.Ser60Phe)	CYFIP2, FNDC9 (S60F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279433	NM_001001343.4(FNDC9):c.178T>A (p.Ser60Thr)	CYFIP2, FNDC9 (S60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279432	NM_001001343.4(FNDC9):c.553C>T (p.Arg185Cys)	CYFIP2, FNDC9 (R185C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270479	NM_001037333.3(CYFIP2):c.2201G>T (p.Gly734Val)	CYFIP2 (G734V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256890	NM_001037333.3(CYFIP2):c.1982+1G>A	CYFIP2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 65	GUncertain significance
Select item 3252266	NM_001037333.3(CYFIP2):c.2083A>T (p.Asn695Tyr)	CYFIP2 (N669Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252212	NM_001037333.3(CYFIP2):c.1672-972A>G	CYFIP2 (Q560R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250961	NM_001037333.3(CYFIP2):c.1398G>A (p.Arg466=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246458	NC_000005.9:g.(?_156785993)_(156788626_?)dup	CYFIP2	Duplication	not provided	GUncertain significance
Select item 3246457	NC_000005.9:g.(?_156712372)_(156820008_?)dup	CYFIP2, FNDC9	Duplication	not provided	GUncertain significance
Select item 3246456	NC_000005.9:g.(?_156816177)_(156820008_?)del	CYFIP2	Deletion	not provided	GUncertain significance
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)	not provided +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

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