"PreventionGenetics, part of Exact Sciences"[submitter] AND "RBFOX1"[g - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032116	NM_018723.4(RBFOX1):c.-126-6C>T	RBFOX1	Single nucleotide variant (intron 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 410097	NM_018723.4(RBFOX1):c.142C>T (p.Pro48Ser)	RBFOX1 (P68S +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
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 460030	NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser)	RBFOX1 (P59S +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 699511	NM_018723.4(RBFOX1):c.201T>A (p.Pro67=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 415960	NM_018723.4(RBFOX1):c.220G>C (p.Glu74Gln)	RBFOX1 (E74Q +2 more)	Single nucleotide variant (missense variant)	RBFOX1-related disorder +1 more	GLikely benign
Select item 1351285	NM_018723.4(RBFOX1):c.257C>G (p.Ser86Cys)	RBFOX1 (S129C +2 more)	Single nucleotide variant (missense variant)	RBFOX1-related disorder +1 more	GUncertain significance
Select item 460031	NM_018723.4(RBFOX1):c.270+10C>G	RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +1 more	GBenign/Likely 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 1537217	NM_018723.4(RBFOX1):c.469-8G>A	RBFOX1	Single nucleotide variant (intron variant)	RBFOX1-related disorder +1 more	GLikely benign
Select item 1898527	NM_018723.4(RBFOX1):c.677-20TC[5]	RBFOX1	Microsatellite (intron variant)	RBFOX1-related disorder +1 more	GLikely benign
Select item 241958	NM_018723.4(RBFOX1):c.747T>C (p.Tyr249=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1155278	NM_018723.4(RBFOX1):c.789C>T (p.Ala263=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2057629	NM_018723.4(RBFOX1):c.804A>T (p.Arg268=)	RBFOX1	Single nucleotide variant (synonymous variant)	RBFOX1-related disorder +1 more	GLikely benign
Select item 1357983	NM_018723.4(RBFOX1):c.931-6T>C	RBFOX1	Single nucleotide variant (intron variant)	RBFOX1-related disorder +1 more	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 1154259	NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=)	LOC126862279, RBFOX1 (P368Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1113070	NM_018723.4(RBFOX1):c.1056C>T (p.Tyr352=)	LOC126862279, RBFOX1 (T370M +1 more)	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 433121	NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser)	LOC126862279, RBFOX1 (G353S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 241954	NM_018723.4(RBFOX1):c.1071+3G>A	LOC126862279, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GBenign

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Items: 21