ClinVar for Gene (Select 146713) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357383	NM_001350451.2(RBFOX3):c.651C>T (p.Gly217=)	RBFOX3	Single nucleotide variant (synonymous variant)	RBFOX3-related disorder	GLikely benign
Select item 3352807	NM_001350451.2(RBFOX3):c.-10G>A	RBFOX3	Single nucleotide variant (5 prime UTR variant)	RBFOX3-related disorder	GLikely benign
Select item 3349877	NM_001350451.2(RBFOX3):c.358G>C (p.Gly120Arg)	RBFOX3 (G119R +1 more)	Single nucleotide variant (missense variant)	RBFOX3-related disorder	GUncertain significance
Select item 3313137	NM_001350451.2(RBFOX3):c.227C>T (p.Thr76Ile)	RBFOX3 (T75I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313136	NM_001350451.2(RBFOX3):c.17C>G (p.Pro6Arg)	RBFOX3 (P6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3152119	NM_001350451.2(RBFOX3):c.946G>A (p.Ala316Thr)	RBFOX3 (A220T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152118	NM_001350451.2(RBFOX3):c.689G>A (p.Arg230Gln)	RBFOX3 (R199Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152117	NM_001350451.2(RBFOX3):c.199A>G (p.Ile67Val)	RBFOX3 (I67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152116	NM_001350451.2(RBFOX3):c.113C>T (p.Pro38Leu)	RBFOX3 (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046473	NM_001350451.2(RBFOX3):c.390C>A (p.Ile130=)	RBFOX3	Single nucleotide variant (synonymous variant +1 more)	RBFOX3-related disorder	GLikely benign
Select item 3021215	NM_001350451.2(RBFOX3):c.617A>G (p.Tyr206Cys)	RBFOX3 (Y175C +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 3008809	NM_001350451.2(RBFOX3):c.361-20C>G	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 3004990	NM_001350451.2(RBFOX3):c.937-17_937-15del	RBFOX3	Microsatellite (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2961599	NM_001350451.2(RBFOX3):c.648C>T (p.Thr216=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2915534	NM_001350451.2(RBFOX3):c.593G>A (p.Gly198Asp)	RBFOX3 (G167D +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2913004	NM_001350451.2(RBFOX3):c.399C>T (p.Asn133=)	RBFOX3	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 2913003	NM_001350451.2(RBFOX3):c.568+16_568+17insT	RBFOX3	Insertion (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2906119	NM_001350451.2(RBFOX3):c.414+14G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2904183	NM_001350451.2(RBFOX3):c.1052C>T (p.Ala351Val)	RBFOX3 (A311V +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2904021	NM_001350451.2(RBFOX3):c.602A>G (p.Tyr201Cys)	RBFOX3 (Y200C +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2901990	NM_001350451.2(RBFOX3):c.668G>C (p.Arg223Pro)	RBFOX3 (R174P +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2901419	NM_001350451.2(RBFOX3):c.980C>T (p.Ala327Val)	RBFOX3 (A280V +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2896548	NM_001350451.2(RBFOX3):c.360+13G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2894379	NM_001350451.2(RBFOX3):c.562A>G (p.Thr188Ala)	RBFOX3 (T139A +3 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2890077	NM_001350451.2(RBFOX3):c.361-8_361-3del	RBFOX3	Deletion (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2889714	NM_001350451.2(RBFOX3):c.977C>T (p.Ala326Val)	RBFOX3 (A325V +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2889683	NM_001350451.2(RBFOX3):c.465G>A (p.Arg155=)	RBFOX3	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 2861840	NM_001350451.2(RBFOX3):c.222+13A>G	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2847497	NM_001350451.2(RBFOX3):c.749dup (p.Tyr250Ter)	RBFOX3 (Y219* +4 more)	Duplication (nonsense)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2836536	NM_001350451.2(RBFOX3):c.743_750dup (p.Gly251fs)	RBFOX3 (G251fs +4 more)	Duplication (frameshift variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2811951	NM_001350451.2(RBFOX3):c.568+18C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2809023	NM_001350451.2(RBFOX3):c.205G>C (p.Gly69Arg)	RBFOX3 (G69R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2806791	NM_001350451.2(RBFOX3):c.414+17G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2789354	NM_001350451.2(RBFOX3):c.128A>G (p.His43Arg)	RBFOX3 (H43R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2784098	NM_001350451.2(RBFOX3):c.568+5G>C	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2783226	NM_001350451.2(RBFOX3):c.121A>C (p.Thr41Pro)	RBFOX3 (T41P)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2783225	NM_001350451.2(RBFOX3):c.414+12A>C	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2755260	NM_001350451.2(RBFOX3):c.457C>G (p.Arg153Gly)	RBFOX3 (R152G +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2752848	NM_001350451.2(RBFOX3):c.223-9del	RBFOX3	Deletion (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2745407	NM_001350451.2(RBFOX3):c.686GCCGGG[3] (p.Arg232_Ala233insGlyArg)	RBFOX3	Microsatellite (inframe_insertion)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2738251	NM_001350451.2(RBFOX3):c.223-9_223-8del	RBFOX3	Microsatellite (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2733096	NM_001350451.2(RBFOX3):c.1062C>T (p.Tyr354=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2732226	NM_001350451.2(RBFOX3):c.999-19C>G	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2726462	NM_001350451.2(RBFOX3):c.1058C>T (p.Thr353Ile)	RBFOX3 (T305I +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2723659	NM_001350451.2(RBFOX3):c.738C>A (p.Pro246=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2716816	NM_001350451.2(RBFOX3):c.623-17G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2712573	NM_001350451.2(RBFOX3):c.961G>A (p.Ala321Thr)	RBFOX3 (A321T +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2704116	NM_001350451.2(RBFOX3):c.568+6G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2696464	NM_001350451.2(RBFOX3):c.568+16C>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2684858	GRCh37/hg19 17q25.3(chr17:76905755-77611113)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2538783	NM_001350451.2(RBFOX3):c.101C>A (p.Ser34Tyr)	RBFOX3 (S34Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473176	NM_001350451.2(RBFOX3):c.181G>A (p.Glu61Lys)	RBFOX3 (E61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2420998	NM_001350451.2(RBFOX3):c.755+9C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2417691	NM_001350451.2(RBFOX3):c.936+18G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2413216	NM_001350451.2(RBFOX3):c.638A>G (p.Tyr213Cys)	RBFOX3 (Y164C +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2289216	NM_001350451.2(RBFOX3):c.215C>T (p.Thr72Ile)	RBFOX3 (T72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261636	NM_001350451.2(RBFOX3):c.1024G>A (p.Asp342Asn)	RBFOX3 (D246N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2189407	NM_001350451.2(RBFOX3):c.755C>A (p.Ala252Glu)	RBFOX3 (A251E +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2188726	NM_001350451.2(RBFOX3):c.623-6C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2186568	NM_001350451.2(RBFOX3):c.49G>A (p.Gly17Ser)	RBFOX3 (G17S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2183785	NM_001350451.2(RBFOX3):c.381C>T (p.Asp127=)	RBFOX3	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 2173445	NM_001350451.2(RBFOX3):c.936+17C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2161742	NM_001350451.2(RBFOX3):c.1067T>C (p.Ile356Thr)	RBFOX3 (I308T +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2159494	NM_001350451.2(RBFOX3):c.263A>T (p.His88Leu)	RBFOX3 (H87L +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2155058	NM_001350451.2(RBFOX3):c.999-20C>G	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2154952	NM_001350451.2(RBFOX3):c.936+15G>C	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2140264	NM_001350451.2(RBFOX3):c.901G>T (p.Val301Leu)	RBFOX3 (V205L +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2127065	NM_001350451.2(RBFOX3):c.222+5G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2124411	NM_001350451.2(RBFOX3):c.1078-12T>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2092506	NM_001350451.2(RBFOX3):c.999-39_999-15del	RBFOX3	Deletion (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2087324	NM_001350451.2(RBFOX3):c.35dup (p.Pro13fs)	RBFOX3 (P13fs)	Duplication (frameshift variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2079965	NM_001350451.2(RBFOX3):c.258G>A (p.Pro86=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2077173	NM_001350451.2(RBFOX3):c.679C>G (p.Leu227Val)	RBFOX3 (L196V +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2071517	NM_001350451.2(RBFOX3):c.164C>T (p.Pro55Leu)	RBFOX3 (P55L)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2062780	NM_001350451.2(RBFOX3):c.110C>A (p.Thr37Asn)	RBFOX3 (T37N)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2059905	NM_001350451.2(RBFOX3):c.901G>C (p.Val301Leu)	RBFOX3 (V301L +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2041891	NM_001350451.2(RBFOX3):c.1077+13G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2024356	NM_001350451.2(RBFOX3):c.87C>T (p.Pro29=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2007541	NM_001350451.2(RBFOX3):c.378A>C (p.Leu126Phe)	RBFOX3 (L125F +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2002496	NM_001350451.2(RBFOX3):c.622+18G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1983339	NM_001350451.2(RBFOX3):c.623-13C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1976877	NM_001350451.2(RBFOX3):c.145A>G (p.Thr49Ala)	RBFOX3 (T49A)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1948988	NM_001350451.2(RBFOX3):c.110C>T (p.Thr37Ile)	RBFOX3 (T37I)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1943300	NM_001350451.2(RBFOX3):c.326G>A (p.Arg109Gln)	RBFOX3 (R109Q +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1935416	NM_001350451.2(RBFOX3):c.8A>G (p.Gln3Arg)	RBFOX3 (Q3R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1931607	NM_001350451.2(RBFOX3):c.217G>A (p.Val73Met)	RBFOX3 (V73M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1897451	NM_001350451.2(RBFOX3):c.552G>A (p.Gly184=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1808998	GRCh37/hg19 17q25.3(chr17:77190713-77611113)x3	RBFOX3	Copy number gain	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, FAAP100 +146 more	Copy number gain	not provided	GPathogenic
Select item 1674069	NM_001350451.2(RBFOX3):c.222+11C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1669316	NM_001350451.2(RBFOX3):c.755+18G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1668786	NM_001350451.2(RBFOX3):c.999-24_999-13dup	RBFOX3	Duplication (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1668072	NM_001350451.2(RBFOX3):c.755+16G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1666265	NM_001350451.2(RBFOX3):c.339C>T (p.Pro113=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1664745	NM_001350451.2(RBFOX3):c.699C>G (p.Ala233=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1662440	NM_001350451.2(RBFOX3):c.223-18C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1659865	NM_001350451.2(RBFOX3):c.568+13G>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1651840	NM_001350451.2(RBFOX3):c.623-7C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign

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