ClinVar for Gene (Select 54715) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152110	NM_018723.4(RBFOX1):c.759G>T (p.Met253Ile)	RBFOX1 (M296I +10 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3152109	NM_018723.4(RBFOX1):c.548G>T (p.Gly183Val)	RBFOX1 (G208V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 3152108	NM_018723.4(RBFOX1):c.533G>A (p.Gly178Asp)	RBFOX1 (G198D +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3152106	NM_018723.4(RBFOX1):c.283G>A (p.Ala95Thr)	LOC126862278, RBFOX1 (A120T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152105	NM_018723.4(RBFOX1):c.97C>A (p.Pro33Thr)	RBFOX1 (P35T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063427	GRCh37/hg19 16p13.3-13.2(chr16:6144666-8016946)x1	RBFOX1	Copy number loss	not specified	GUncertain significance
Select item 3063420	GRCh37/hg19 16p13.3(chr16:6782302-7123713)x1	RBFOX1	Copy number loss	not specified	GUncertain significance
Select item 3052773	NM_018723.4(RBFOX1):c.171G>T (p.Thr57=)	RBFOX1	Single nucleotide variant (synonymous variant)	RBFOX1-related disorder	GLikely benign
Select item 3036189	NM_018723.4(RBFOX1):c.-22C>T	RBFOX1	Single nucleotide variant (5 prime UTR variant +1 more)	RBFOX1-related disorder	GLikely benign
Select item 3032116	NM_018723.4(RBFOX1):c.-126-6C>T	RBFOX1	Single nucleotide variant (intron variant)	RBFOX1-related disorder	GLikely benign
Select item 3030635	NM_018723.4(RBFOX1):c.1042C>T (p.Pro348Ser)	LOC126862279, RBFOX1 (P317S +15 more)	Single nucleotide variant (missense variant +1 more)	RBFOX1-related disorder	GUncertain significance
Select item 3016662	NM_018723.4(RBFOX1):c.415-20A>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 3014246	NM_018723.4(RBFOX1):c.996-15C>G	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 3011117	NM_018723.4(RBFOX1):c.995+16C>T	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 3006455	NM_018723.4(RBFOX1):c.573C>T (p.Ala191=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 3005700	NM_018723.4(RBFOX1):c.890+15C>T	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 3002569	NM_018723.4(RBFOX1):c.931-8T>C	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 3000496	NM_018723.4(RBFOX1):c.973A>G (p.Thr325Ala)	RBFOX1 (T303A +20 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2994710	NM_018723.4(RBFOX1):c.1016C>T (p.Ala339Val)	LOC126862279, RBFOX1 (A317V +30 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2978280	NM_018723.4(RBFOX1):c.758-12C>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2955706	NM_018723.4(RBFOX1):c.1163G>A (p.Arg388Gln)	RBFOX1 (R390Q +15 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2918617	NM_018723.4(RBFOX1):c.931-18T>C	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2918605	NM_018723.4(RBFOX1):c.327C>T (p.Asn109=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2917309	NM_018723.4(RBFOX1):c.876C>T (p.Ile292=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2916426	NM_018723.4(RBFOX1):c.680C>T (p.Thr227Met)	RBFOX1 (T227M +2 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2910904	NM_018723.4(RBFOX1):c.623-16G>T	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2909229	NM_018723.4(RBFOX1):c.724A>G (p.Ser242Gly)	RBFOX1 (S236G +10 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2909095	NM_018723.4(RBFOX1):c.622+11A>T	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2905850	NM_018723.4(RBFOX1):c.931-5160C>A	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2892700	NM_018723.4(RBFOX1):c.257C>T (p.Ser86Phe)	RBFOX1 (S111F +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2889757	NM_018723.4(RBFOX1):c.757+14C>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2888867	NM_018723.4(RBFOX1):c.758-6C>T	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2888487	NM_018723.4(RBFOX1):c.810G>A (p.Ala270=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2886455	NM_018723.4(RBFOX1):c.758-5C>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2886400	NM_018723.4(RBFOX1):c.28-185041C>A	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2879751	NM_018723.4(RBFOX1):c.819A>T (p.Arg273=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2878530	NM_018723.4(RBFOX1):c.853G>T (p.Ala285Ser)	RBFOX1 (A290S +19 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2877601	NM_018723.4(RBFOX1):c.816G>A (p.Leu272=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2877314	NM_018723.4(RBFOX1):c.1071+17C>G	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2873049	NM_018723.4(RBFOX1):c.104_105delinsCG (p.Asn35Thr)	RBFOX1 (N234T +6 more)	Indel (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2862703	NM_018723.4(RBFOX1):c.270+11G>A	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2859574	NM_018723.4(RBFOX1):c.28-10G>T	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2855888	NM_018723.4(RBFOX1):c.271-13C>T	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2847968	NM_018723.4(RBFOX1):c.30_37del (p.Asn11fs)	RBFOX1 (N11fs +6 more)	Deletion (frameshift variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2838785	NM_018723.4(RBFOX1):c.1042C>A (p.Pro348Thr)	LOC126862279, RBFOX1 (P326T +15 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2838768	NM_018723.4(RBFOX1):c.1072-2A>G	RBFOX1	Single nucleotide variant (3 prime UTR variant +2 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2835462	NM_018723.4(RBFOX1):c.931-5226T>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2835000	NM_018723.4(RBFOX1):c.468+18C>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2833984	NM_018723.4(RBFOX1):c.124A>G (p.Thr42Ala)	RBFOX1 (T62A +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2829559	NM_018723.4(RBFOX1):c.758-18_758-17insGT	RBFOX1	Insertion (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2828809	NM_018723.4(RBFOX1):c.104A>G (p.Asn35Ser)	RBFOX1 (N234S +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2822060	NM_018723.4(RBFOX1):c.676+7_676+8del	RBFOX1	Microsatellite (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2820149	NM_018723.4(RBFOX1):c.948C>G (p.Tyr316Ter)	RBFOX1 (Y291* +20 more)	Single nucleotide variant (nonsense)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2816529	NM_018723.4(RBFOX1):c.613dup (p.Tyr205fs)	RBFOX1 (Y210fs +10 more)	Duplication (frameshift variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2813361	NM_018723.4(RBFOX1):c.588G>C (p.Met196Ile)	RBFOX1 (M196I +10 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2807840	NM_018723.4(RBFOX1):c.311C>G (p.Thr104Arg)	LOC126862278, RBFOX1 (T124R +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2807083	NM_018723.4(RBFOX1):c.270+19_270+22dup	RBFOX1	Duplication (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2802885	NM_018723.4(RBFOX1):c.988A>G (p.Ser330Gly)	RBFOX1 (S305G +20 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2797844	NM_018723.4(RBFOX1):c.931-12C>T	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2794374	NM_145893.3(RBFOX1):c.957G>A (p.Val319=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 2794344	NM_018723.4(RBFOX1):c.1062T>C (p.Val354=)	LOC126862279, RBFOX1 (L370S +14 more)	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 2791399	NM_018723.4(RBFOX1):c.103A>G (p.Asn35Asp)	RBFOX1 (N234D +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2785209	NM_018723.4(RBFOX1):c.414+20C>G	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2764239	NM_018723.4(RBFOX1):c.206C>G (p.Ala69Gly)	RBFOX1 (A69G +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2760901	NM_018723.4(RBFOX1):c.289C>G (p.Pro97Ala)	LOC126862278, RBFOX1 (P296A +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2759794	NM_018723.4(RBFOX1):c.185C>T (p.Thr62Ile)	RBFOX1 (T105I +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2755438	NM_018723.4(RBFOX1):c.996-14T>G	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2743355	NM_018723.4(RBFOX1):c.424A>G (p.Lys142Glu)	RBFOX1 (K167E +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2740201	NM_018723.4(RBFOX1):c.230C>T (p.Pro77Leu)	RBFOX1 (P113L +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2728441	NM_018723.4(RBFOX1):c.931-5221A>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2724967	NM_018723.4(RBFOX1):c.414+16C>A	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2724266	NM_018723.4(RBFOX1):c.270+20A>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2721767	NM_018723.4(RBFOX1):c.290C>A (p.Pro97Gln)	LOC126862278, RBFOX1 (P133Q +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2721445	NM_018723.4(RBFOX1):c.294G>A (p.Thr98=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2720819	NM_018723.4(RBFOX1):c.204C>T (p.Pro68=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2717631	NM_018723.4(RBFOX1):c.124A>C (p.Thr42Pro)	RBFOX1 (T241P +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2714931	NM_018723.4(RBFOX1):c.219C>A (p.Ser73=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2714690	NM_018723.4(RBFOX1):c.265G>A (p.Ala89Thr)	RBFOX1 (A109T +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2712970	NM_018723.4(RBFOX1):c.870C>T (p.Pro290=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2711158	NM_145893.3(RBFOX1):c.953_962del (p.Val318fs)	RBFOX1 (V291fs +1 more)	Deletion (intron variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2710771	NM_018723.4(RBFOX1):c.295G>A (p.Asp99Asn)	LOC126862278, RBFOX1 (D142N +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2710209	NM_018723.4(RBFOX1):c.205G>A (p.Ala69Thr)	RBFOX1 (A69T +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2706807	NM_018723.4(RBFOX1):c.469G>A (p.Gly157Arg)	RBFOX1 (G157R +6 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2704749	NM_018723.4(RBFOX1):c.400A>T (p.Arg134Ter)	LOC126862278, RBFOX1 (R154* +6 more)	Single nucleotide variant (nonsense)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2704262	NM_018723.4(RBFOX1):c.823C>T (p.Arg275Cys)	RBFOX1 (R260C +19 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2700260	NM_018723.4(RBFOX1):c.622+4A>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2692735	NM_018723.4(RBFOX1):c.1151C>A (p.Ala384Asp)	RBFOX1 (A353D +15 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2685552	GRCh37/hg19 16p13.3(chr16:6981577-7447342)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 2685551	GRCh37/hg19 16p13.3(chr16:6704526-6844992)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 2685550	GRCh37/hg19 16p13.3(chr16:6642111-6706037)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 2685549	GRCh37/hg19 16p13.3(chr16:6260839-6978977)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 2665050	NC_000016.10:g.6905044_7356822del	LOC125146396, LOC126862276 +5 more	Deletion	not provided	GUncertain significance
Select item 2646178	NM_018723.4(RBFOX1):c.1071+369G>C	LOC126862279, RBFOX1 (G345R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2646177	NM_018723.4(RBFOX1):c.309G>A (p.Gln103=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646176	NM_018723.4(RBFOX1):c.28-7847G>C	RBFOX1 (R7S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2631097	NM_018723.4(RBFOX1):c.404A>T (p.Gln135Leu)	LOC126862278, RBFOX1 (Q135L +6 more)	Single nucleotide variant (missense variant)	RBFOX1-related disorder	GUncertain significance
Select item 2608695	NM_018723.4(RBFOX1):c.889G>A (p.Gly297Ser)	RBFOX1 (G299S +21 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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