Related gene-specific medical variations for Gene (Select 54715) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313132	NM_018723.4(RBFOX1):c.329C>G (p.Thr110Arg)	LOC126862278, RBFOX1 (T130R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243335	NC_000016.9:g.(?_7726832)_(7839608_?)del	RBFOX1	Deletion	Idiopathic generalized epilepsy	GUncertain significance
Select item 3243334	NC_000016.9:g.(?_7629759)_(7637322_?)dup	RBFOX1	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3243333	NC_000016.9:g.(?_7383003)_(7703969_?)dup	RBFOX1	Duplication	Idiopathic generalized epilepsy	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 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 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 3014246	NM_018723.4(RBFOX1):c.996-15C>G	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
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 2918605	NM_018723.4(RBFOX1):c.327C>T (p.Asn109=)	LOC126862278, 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 2855888	NM_018723.4(RBFOX1):c.271-13C>T	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
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 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 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 2785209	NM_018723.4(RBFOX1):c.414+20C>G	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
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 2755438	NM_018723.4(RBFOX1):c.996-14T>G	LOC126862279, 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 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 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 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 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 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 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 2457832	NM_018723.4(RBFOX1):c.339G>C (p.Lys113Asn)	LOC126862278, RBFOX1 (K133N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336732	NM_018723.4(RBFOX1):c.1036C>T (p.Leu346Phe)	LOC126862279, RBFOX1 (L366F +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320009	NM_018723.4(RBFOX1):c.386G>C (p.Arg129Pro)	LOC126862278, RBFOX1 (R129P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266758	NM_018723.4(RBFOX1):c.1052C>T (p.Thr351Ile)	LOC126862279, RBFOX1 (P374S +30 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172393	NM_018723.4(RBFOX1):c.297T>C (p.Asp99=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2128390	NM_018723.4(RBFOX1):c.386G>A (p.Arg129Gln)	LOC126862278, RBFOX1 (R165Q +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2114180	NM_018723.4(RBFOX1):c.996-18C>T	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2069693	NM_018723.4(RBFOX1):c.996-13A>G	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2001642	NM_018723.4(RBFOX1):c.271-100_271-11del	LOC126862278, RBFOX1	Deletion (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1950285	NM_018723.4(RBFOX1):c.1060G>C (p.Val354Leu)	LOC126862279, RBFOX1 (V327L +15 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1807608	GRCh37/hg19 16p13.3(chr16:7575427-7875997)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 1715992	NM_018723.4(RBFOX1):c.1048C>T (p.Pro350Ser)	LOC126862279, RBFOX1 (P323S +15 more)	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1670504	NM_018723.4(RBFOX1):c.291G>A (p.Pro97=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1664139	NM_018723.4(RBFOX1):c.996-19A>C	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GBenign
Select item 1661270	NM_018723.4(RBFOX1):c.1023C>G (p.Pro341=)	LOC126862279, RBFOX1 (P359R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1637435	NM_018723.4(RBFOX1):c.414+20C>A	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1612827	NM_018723.4(RBFOX1):c.303G>A (p.Gln101=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1605987	NM_018723.4(RBFOX1):c.1071+18C>G	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1585955	NM_018723.4(RBFOX1):c.1071+11G>A	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1565407	NM_018723.4(RBFOX1):c.1071+11G>C	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1544878	NM_018723.4(RBFOX1):c.360T>C (p.His120=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1526491	GRCh37/hg19 16p13.3(chr16:7595194-7693276)	RBFOX1	Copy number loss	not specified	GUncertain significance
Select item 1526490	GRCh37/hg19 16p13.3(chr16:7569394-7708073)	RBFOX1	Copy number loss	not specified	GUncertain significance
Select item 1526489	GRCh37/hg19 16p13.3(chr16:7034267-7143879)	RBFOX1	Copy number loss	not specified	GUncertain significance
Select item 1526488	GRCh37/hg19 16p13.3(chr16:6958175-7441851)	RBFOX1	Copy number loss	not specified	GUncertain significance
Select item 1526487	GRCh37/hg19 16p13.3(chr16:6641924-6791692)	RBFOX1	Copy number loss	not specified	GUncertain significance
Select item 1526486	GRCh37/hg19 16p13.3(chr16:6302520-6398142)	RBFOX1	Copy number loss	not specified	GUncertain significance
Select item 1523780	NM_018723.4(RBFOX1):c.414+5G>A	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1511441	NM_018723.4(RBFOX1):c.1004G>A (p.Arg335Gln)	LOC126862279, RBFOX1 (E353K +5 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1405244	NM_018723.4(RBFOX1):c.1058_1060del (p.Gly353del)	LOC126862279, RBFOX1 (G396del +5 more)	Deletion (inframe_deletion)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1387155	NM_018723.4(RBFOX1):c.1018G>A (p.Asp340Asn)	LOC126862279, RBFOX1 (D361N +3 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1340566	GRCh37/hg19 16p13.3(chr16:7176252-7260573)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 1154259	NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=)	LOC126862279, RBFOX1 (P368Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	RBFOX1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1148169	NM_018723.4(RBFOX1):c.1059C>T (p.Gly353=)	LOC126862279, RBFOX1 (A371V +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1136928	NM_018723.4(RBFOX1):c.999C>T (p.Tyr333=)	LOC126862279, RBFOX1 (T351M +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1134682	NM_018723.4(RBFOX1):c.294G>C (p.Thr98=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1113070	NM_018723.4(RBFOX1):c.1056C>T (p.Tyr352=)	LOC126862279, RBFOX1 (T370M +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1078426	NM_018723.4(RBFOX1):c.357G>C (p.Leu119=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1059635	NM_018723.4(RBFOX1):c.305C>T (p.Pro102Leu)	LOC126862278, RBFOX1 (P102L +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1056357	NM_018723.4(RBFOX1):c.396C>A (p.Asp132Glu)	LOC126862278, RBFOX1 (D132E +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1024254	NM_018723.4(RBFOX1):c.347C>T (p.Pro116Leu)	LOC126862278, RBFOX1 (P116L +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1018052	NM_018723.4(RBFOX1):c.1060G>A (p.Val354Ile)	LOC126862279, RBFOX1 (V327I +3 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1017747	NM_018723.4(RBFOX1):c.292A>G (p.Thr98Ala)	LOC126862278, RBFOX1 (T118A +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1014714	NM_018723.4(RBFOX1):c.1046C>A (p.Ala349Asp)	LOC126862279, RBFOX1 (A322D +5 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1013115	GRCh37/hg19 16p13.3(chr16:7354384-7383089)x3	RBFOX1	Copy number gain	not provided	GLikely pathogenic
Select item 1008902	NM_018723.4(RBFOX1):c.413G>C (p.Gly138Ala)	LOC126862278, RBFOX1 (G138A +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 998154	NM_018723.4(RBFOX1):c.406del (p.Met136fs)	LOC126862278, RBFOX1 (M136fs +2 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 997088	GRCh37/hg19 16p13.3(chr16:6042083-6237086)	RBFOX1	Copy number loss	Hearing impairment +1 more	GLikely pathogenic
Select item 980675	GRCh37/hg19 16p13.3(chr16:6206772-6601179)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980674	GRCh37/hg19 16p13.3(chr16:7063678-7234292)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980581	GRCh37/hg19 16p13.3(chr16:7242048-7576771)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980580	GRCh37/hg19 16p13.3(chr16:6882364-7247060)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980579	GRCh37/hg19 16p13.3(chr16:6693473-6874647)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980578	GRCh37/hg19 16p13.3(chr16:6749404-7146098)x3	RBFOX1	Copy number gain	not provided	GUncertain significance
Select item 980577	GRCh37/hg19 16p13.3(chr16:6750079-7122910)x3	RBFOX1	Copy number gain	not provided	GUncertain significance
Select item 980575	GRCh37/hg19 16p13.3(chr16:6531393-6839555)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 973180	GRCh37/hg19 16p13.3(chr16:6749657-7122769)x3	RBFOX1	Copy number gain	not provided	Gnot provided
Select item 961204	NM_018723.4(RBFOX1):c.330G>A (p.Thr110=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 947582	NM_018723.4(RBFOX1):c.1003C>T (p.Arg335Ter)	LOC126862279, RBFOX1 (R356* +3 more)	Single nucleotide variant (nonsense +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 939071	NM_018723.4(RBFOX1):c.329C>T (p.Thr110Met)	LOC126862278, RBFOX1 (T130M +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 937077	NM_018723.4(RBFOX1):c.1000G>A (p.Gly334Arg)	LOC126862279, RBFOX1 (G377R +3 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 863011	NM_018723.4(RBFOX1):c.1071+5G>T	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 844377	NM_018723.4(RBFOX1):c.1016C>A (p.Ala339Asp)	LOC126862279, RBFOX1 (A382D +5 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 841306	NM_018723.4(RBFOX1):c.320C>T (p.Ser107Phe)	LOC126862278, RBFOX1 (S150F +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 836134	NM_018723.4(RBFOX1):c.393G>A (p.Pro131=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 815783	GRCh37/hg19 16p13.3(chr16:7733702-7786380)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815782	GRCh37/hg19 16p13.3(chr16:7629320-7682605)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815781	GRCh37/hg19 16p13.3(chr16:7575426-7875997)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815780	GRCh37/hg19 16p13.3(chr16:6761164-7052376)x1	RBFOX1	Copy number loss	not provided	GUncertain significance

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