RBFOX3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 153374	GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4	C1QTNF1, C1QTNF1-AS1 +55 more	Copy number gain	See cases	GUncertain significance
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1377219	NM_001350451.2(RBFOX3):c.1078-3T>C	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 1583807	NM_001350451.2(RBFOX3):c.1077+18G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1562425	NM_001350451.2(RBFOX3):c.1077+17C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1607790	NM_001350451.2(RBFOX3):c.1077+16C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2041891	NM_001350451.2(RBFOX3):c.1077+13G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1455570	NM_001350451.2(RBFOX3):c.1077+9C>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 662974	NM_001350451.2(RBFOX3):c.1077+6G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1047217	NM_001350451.2(RBFOX3):c.1068T>G (p.Ile356Met)	RBFOX3 (I260M +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
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 2733096	NM_001350451.2(RBFOX3):c.1062C>T (p.Tyr354=)	RBFOX3	Single nucleotide variant (synonymous 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 529528	NM_001350451.2(RBFOX3):c.1056G>A (p.Ala352=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 460026	NM_001350451.2(RBFOX3):c.1055C>T (p.Ala352Val)	RBFOX3 (A305V +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 999470	NM_001350451.2(RBFOX3):c.1053G>A (p.Ala351=)	RBFOX3	Single nucleotide variant (synonymous 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 655894	NM_001350451.2(RBFOX3):c.1051G>A (p.Ala351Thr)	RBFOX3 (A351T +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 766146	NM_001350451.2(RBFOX3):c.1044C>T (p.Ile348=)	RBFOX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 460025	NM_001350451.2(RBFOX3):c.1029G>A (p.Pro343=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1380691	NM_001350451.2(RBFOX3):c.1028C>G (p.Pro343Arg)	RBFOX3 (P296R +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1016285	NM_001350451.2(RBFOX3):c.1028C>T (p.Pro343Leu)	RBFOX3 (P247L +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	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 1114814	NM_001350451.2(RBFOX3):c.1023C>T (p.Ala341=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1577444	NM_001350451.2(RBFOX3):c.1014C>T (p.Tyr338=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1061084	NM_001350451.2(RBFOX3):c.1005C>T (p.Gly335=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1506280	NM_001350451.2(RBFOX3):c.1004G>T (p.Gly335Val)	RBFOX3 (G288V +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 700707	NM_001350451.2(RBFOX3):c.1002C>T (p.Tyr334=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 433136	NM_001350451.2(RBFOX3):c.1002C>A (p.Tyr334Ter)	RBFOX3 (Y287* +6 more)	Single nucleotide variant (nonsense)	Childhood epilepsy with centrotemporal spikes	GPathogenic
Select item 851692	NM_001350451.2(RBFOX3):c.999-9C>G	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1668786	NM_001350451.2(RBFOX3):c.999-24_999-13dup	RBFOX3	Duplication (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1596860	NM_001350451.2(RBFOX3):c.999-12G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1623842	NM_001350451.2(RBFOX3):c.999-13C>T	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 2732226	NM_001350451.2(RBFOX3):c.999-19C>G	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2155058	NM_001350451.2(RBFOX3):c.999-20C>G	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1559446	NM_001350451.2(RBFOX3):c.998+13G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1597691	NM_001350451.2(RBFOX3):c.998+9G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 416625	NM_001350451.2(RBFOX3):c.998+9G>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GBenign
Select item 1102878	NM_001350451.2(RBFOX3):c.998+8C>G	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 759846	NM_001350451.2(RBFOX3):c.998+8C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1148231	NM_001350451.2(RBFOX3):c.993C>T (p.Ser331=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 698052	NM_001350451.2(RBFOX3):c.984A>T (p.Ala328=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1137935	NM_001350451.2(RBFOX3):c.981G>A (p.Ala327=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
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 529545	NM_001350451.2(RBFOX3):c.978G>A (p.Ala326=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
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 697281	NM_001350451.2(RBFOX3):c.970G>A (p.Ala324Thr)	RBFOX3 (A324T +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 697807	NM_001350451.2(RBFOX3):c.969C>T (p.Pro323=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
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 529527	NM_001350451.2(RBFOX3):c.960C>T (p.Tyr320=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GBenign
Select item 1384331	NM_001350451.2(RBFOX3):c.956G>C (p.Arg319Thr)	RBFOX3 (R271T +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1461018	NM_001350451.2(RBFOX3):c.949G>A (p.Ala317Thr)	RBFOX3 (A221T +6 more)	Single nucleotide variant (missense variant)	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 1485178	NM_001350451.2(RBFOX3):c.946G>C (p.Ala316Pro)	RBFOX3 (A315P +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1143576	NM_001350451.2(RBFOX3):c.945C>T (p.Tyr315=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1145994	NM_001350451.2(RBFOX3):c.942C>T (p.Gly314=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 703111	NM_001350451.2(RBFOX3):c.937-8C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 755557	NM_001350451.2(RBFOX3):c.937-10T>C	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 1559877	NM_001350451.2(RBFOX3):c.937-19C>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 1551493	NM_001350451.2(RBFOX3):c.936+18G>T	RBFOX3	Single nucleotide variant (intron variant)	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 2154952	NM_001350451.2(RBFOX3):c.936+15G>C	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1600503	NM_001350451.2(RBFOX3):c.936+15G>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GBenign
Select item 1569081	NM_001350451.2(RBFOX3):c.936+14C>A	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1518521	NM_001350451.2(RBFOX3):c.936+2del	RBFOX3	Deletion (splice donor variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1014278	NM_001350451.2(RBFOX3):c.928G>A (p.Glu310Lys)	RBFOX3 (E214K +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1160130	NM_001350451.2(RBFOX3):c.912T>C (p.Asp304=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1161515	NM_001350451.2(RBFOX3):c.903G>A (p.Val301=)	RBFOX3	Single nucleotide variant (synonymous 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 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 1669316	NM_001350451.2(RBFOX3):c.755+18G>A	RBFOX3	Single nucleotide variant (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 1585456	NM_001350451.2(RBFOX3):c.755+14C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2420998	NM_001350451.2(RBFOX3):c.755+9C>T	RBFOX3	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
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 2836536	NM_001350451.2(RBFOX3):c.743_750dup (p.Gly251fs)	RBFOX3 (G251fs +4 more)	Duplication (frameshift variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2847497	NM_001350451.2(RBFOX3):c.749dup (p.Tyr250Ter)	RBFOX3 (Y219* +4 more)	Duplication (nonsense)	Idiopathic generalized epilepsy	GUncertain significance
Select item 460024	NM_001350451.2(RBFOX3):c.750C>T (p.Tyr250=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 733573	NM_001350451.2(RBFOX3):c.741C>T (p.Ile247=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
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 1631693	NM_001350451.2(RBFOX3):c.735C>G (p.Pro245=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1061116	NM_001350451.2(RBFOX3):c.733C>T (p.Pro245Ser)	RBFOX3 (P196S +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 840245	NM_001350451.2(RBFOX3):c.718G>A (p.Ala240Thr)	RBFOX3 (A240T +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 640789	NM_001350451.2(RBFOX3):c.714T>G (p.Phe238Leu)	RBFOX3 (F238L +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 834172	NM_001350451.2(RBFOX3):c.709A>G (p.Thr237Ala)	RBFOX3 (T237A +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 651721	NM_001350451.2(RBFOX3):c.700G>A (p.Val234Met)	RBFOX3 (V234M +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
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 698296	NM_001350451.2(RBFOX3):c.699C>T (p.Ala233=)	RBFOX3	Single nucleotide variant (synonymous 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 796839	NM_001350451.2(RBFOX3):c.696G>C (p.Arg232=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
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

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