RBFOX1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 585482	NM_018723.4(RBFOX1):c.-229C>G	RBFOX1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 146555	GRCh38/hg38 16p13.3(chr16:6099326-6384199)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 145048	GRCh38/hg38 16p13.3(chr16:6099326-6470232)x3	RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 145400	GRCh38/hg38 16p13.3(chr16:6216392-6224721)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 148192	GRCh38/hg38 16p13.3(chr16:6224663-6353108)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 155269	GRCh38/hg38 16p13.3(chr16:6244130-6332434)x3	RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 236382	Single allele	RBFOX1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 59460	GRCh38/hg38 16p13.3(chr16:6245158-6327302)x1	RBFOX1	Copy number loss	See cases	GPathogenic
Select item 153509	GRCh38/hg38 16p13.3(chr16:6249945-6720476)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 152967	GRCh38/hg38 16p13.3(chr16:6253203-6552025)x1	RBFOX1	Copy number loss	See cases	GBenign
Select item 148284	GRCh38/hg38 16p13.3(chr16:6302849-6635698)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 59461	GRCh38/hg38 16p13.3(chr16:6305477-6373270)x1	RBFOX1	Copy number loss	See cases	GPathogenic
Select item 495280	NC_000016.10:g.(?_6316970)_(6317082_?)del	RBFOX1	Deletion	Undetermined early-onset epileptic encephalopathy	GLikely pathogenic
Select item 585480	NM_018723.4(RBFOX1):c.-126-6_-126-4del	RBFOX1	Microsatellite (intron variant)	not provided	GBenign
Select item 3032116	NM_018723.4(RBFOX1):c.-126-6C>T	RBFOX1	Single nucleotide variant (intron variant)	RBFOX1-related disorder	GLikely benign
Select item 148638	GRCh38/hg38 16p13.3(chr16:6321454-6538850)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 150058	GRCh38/hg38 16p13.3(chr16:6338660-6374221)x1	RBFOX1	Copy number loss	See cases	GLikely benign
Select item 545206	NC_000016.10:g.(?_6355716)_(6937802_?)del	RBFOX1	Deletion	Schizophrenia	GLikely pathogenic
Select item 545207	NC_000016.10:g.(?_6360351)_(6582207_?)del	RBFOX1	Deletion	Schizophrenia	GLikely pathogenic
Select item 153327	GRCh38/hg38 16p13.3(chr16:6375427-6877384)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 150188	GRCh38/hg38 16p13.3(chr16:6470239-6489245)x1	RBFOX1	Copy number loss	See cases	GLikely benign
Select item 803210	NM_018723.4(RBFOX1):c.-64+166491C>A	RBFOX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 149323	GRCh38/hg38 16p13.3(chr16:6514970-6681910)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 560142	Single allele	RBFOX1	Deletion	not provided	GUncertain significance
Select item 150004	GRCh38/hg38 16p13.3(chr16:6610794-6635820)x3	RBFOX1	Copy number gain	See cases	GLikely benign
Select item 148221	GRCh38/hg38 16p13.3(chr16:6619411-6659373)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 545208	NC_000016.10:g.(?_6622570)_(6720408_?)del	RBFOX1	Deletion	Schizophrenia	GLikely pathogenic
Select item 150495	GRCh38/hg38 16p13.3(chr16:6624323-6692732)x3	RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 148352	GRCh38/hg38 16p13.3(chr16:6632416-6717300)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 150992	GRCh38/hg38 16p13.3(chr16:6644163-6769660)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 495281	NC_000016.10:g.(?_6654578)_(6654675_?)del	RBFOX1	Deletion	Undetermined early-onset epileptic encephalopathy	GLikely pathogenic
Select item 149573	GRCh38/hg38 16p13.3(chr16:6654615-6717300)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
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 152594	GRCh38/hg38 16p13.3(chr16:6664224-6786909)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 151193	GRCh38/hg38 16p13.3(chr16:6669535-6857206)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 152353	GRCh38/hg38 16p13.3(chr16:6708093-6854032)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 148327	GRCh38/hg38 16p13.3(chr16:6717241-7012011)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 145347	GRCh38/hg38 16p13.3(chr16:6717347-6751660)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 57015	GRCh38/hg38 16p13.3(chr16:6735606-6996218)x1	RBFOX1	Copy number loss	See cases	GPathogenic
Select item 148796	GRCh38/hg38 16p13.3(chr16:6746845-6786968)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 153294	GRCh38/hg38 16p13.3(chr16:6757672-6881013)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 560070	Single allele	RBFOX1	Deletion	not provided	GUncertain significance
Select item 545210	NC_000016.10:g.(?_6759006)_(6789572_?)del	RBFOX1	Deletion	Autism	GLikely pathogenic
Select item 150925	GRCh38/hg38 16p13.3(chr16:6762261-6936370)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 148769	GRCh38/hg38 16p13.3(chr16:6769601-6856541)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 148412	GRCh38/hg38 16p13.3(chr16:6769601-6846673)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 545211	NC_000016.10:g.(?_6773909)_(6978067_?)del	RBFOX1	Deletion	Schizophrenia	GLikely pathogenic
Select item 145413	GRCh38/hg38 16p13.3(chr16:6778134-6800861)x3	RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 146927	GRCh38/hg38 16p13.3(chr16:6786909-6996218)x1	RBFOX1	Copy number loss	See cases	GPathogenic
Select item 154423	GRCh38/hg38 16p13.3(chr16:6796599-6996176)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 150960	GRCh38/hg38 16p13.3(chr16:6826836-6901129)x1	RBFOX1	Copy number loss	See cases	GLikely benign
Select item 151051	GRCh38/hg38 16p13.3(chr16:6839301-6914112)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 150980	GRCh38/hg38 16p13.3(chr16:6839301-6901129)x1	RBFOX1	Copy number loss	See cases	GLikely benign
Select item 150200	GRCh38/hg38 16p13.3(chr16:6870983-6901129)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 145050	GRCh38/hg38 16p13.3(chr16:6900958-6922247)x1	RBFOX1	Copy number loss	See cases	GBenign
Select item 150727	GRCh38/hg38 16p13.3(chr16:6922284-6976423)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 150198	GRCh38/hg38 16p13.3(chr16:6922284-6954362)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 150418	GRCh38/hg38 16p13.3(chr16:6941377-6967574)x1	RBFOX1	Copy number loss	See cases	GLikely benign
Select item 545212	NC_000016.10:g.(?_7029167)_(7099643_?)del	RBFOX1	Deletion	Schizophrenia	GLikely pathogenic
Select item 148689	GRCh38/hg38 16p13.3(chr16:7051254-7143066)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 148369	GRCh38/hg38 16p13.3(chr16:7054994-7076815)x1	RBFOX1	Copy number loss	See cases	GLikely benign
Select item 154970	GRCh38/hg38 16p13.3(chr16:7288229-7355378)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 1520387	NM_145893.3(RBFOX1):c.4C>G (p.Leu2Val)	RBFOX1 (L2V)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1120958	NM_145893.3(RBFOX1):c.9G>A (p.Ala3=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 696583	NM_145893.3(RBFOX1):c.11C>G (p.Ser4Cys)	RBFOX1 (S4C)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1901418	NM_145893.3(RBFOX1):c.18A>T (p.Gly6=)	RBFOX1	Single nucleotide variant (intron variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 1520352	NM_145893.3(RBFOX1):c.22C>G (p.Leu8Val)	RBFOX1 (L8V)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1157908	NM_145893.3(RBFOX1):c.24C>T (p.Leu8=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 1625653	NM_145893.3(RBFOX1):c.25C>T (p.Leu9=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 846803	NM_145893.3(RBFOX1):c.32C>A (p.Pro11His)	RBFOX1 (P11H)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1721766	NM_145893.3(RBFOX1):c.35A>G (p.Tyr12Cys)	RBFOX1 (Y12C)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 656133	NM_145893.3(RBFOX1):c.35A>T (p.Tyr12Phe)	RBFOX1 (Y12F)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1584701	NM_145893.3(RBFOX1):c.36T>C (p.Tyr12=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 2080230	NM_145893.3(RBFOX1):c.38G>T (p.Gly13Val)	RBFOX1 (G13V)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 969479	NM_145893.3(RBFOX1):c.39C>T (p.Gly13=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 2600143	NM_145893.3(RBFOX1):c.40G>A (p.Val14Met)	RBFOX1 (V14M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 460032	NM_145893.3(RBFOX1):c.46A>G (p.Met16Val)	RBFOX1 (M16V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1151581	NM_145893.3(RBFOX1):c.51T>C (p.Ile17=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 1573691	NM_145893.3(RBFOX1):c.54A>G (p.Val18=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 842364	NM_145893.3(RBFOX1):c.55C>T (p.Pro19Ser)	RBFOX1 (P19S)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1468848	NM_145893.3(RBFOX1):c.56C>G (p.Pro19Arg)	RBFOX1 (P19R)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 577273	NM_145893.3(RBFOX1):c.56C>T (p.Pro19Leu)	RBFOX1 (P19L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 696561	NM_145893.3(RBFOX1):c.57G>A (p.Pro19=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GBenign
Select item 1403523	NM_145893.3(RBFOX1):c.59C>T (p.Ala20Val)	RBFOX1 (A20V)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1392414	NM_145893.3(RBFOX1):c.61G>T (p.Ala21Ser)	RBFOX1 (A21S)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 953614	NM_145893.3(RBFOX1):c.62C>T (p.Ala21Val)	RBFOX1 (A21V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1138934	NM_145893.3(RBFOX1):c.63T>G (p.Ala21=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 1431279	NM_145893.3(RBFOX1):c.64C>G (p.Pro22Ala)	RBFOX1 (P22A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1407313	NM_145893.3(RBFOX1):c.68A>G (p.Tyr23Cys)	RBFOX1 (Y23C)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1348433	NM_145893.3(RBFOX1):c.69C>A (p.Tyr23Ter)	RBFOX1 (Y23*)	Single nucleotide variant (nonsense +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1134523	NM_145893.3(RBFOX1):c.69C>T (p.Tyr23=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 1514818	NM_145893.3(RBFOX1):c.70C>G (p.Leu24Val)	RBFOX1 (L24V)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1021443	NM_145893.3(RBFOX1):c.74C>T (p.Pro25Leu)	RBFOX1 (P25L)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1157321	NM_145893.3(RBFOX1):c.75T>C (p.Pro25=)	RBFOX1	Single nucleotide variant (synonymous variant +1 more)	Idiopathic generalized epilepsy	GLikely benign
Select item 2115199	NM_145893.3(RBFOX1):c.76G>A (p.Gly26Arg)	RBFOX1 (G26R)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1351381	NM_145893.3(RBFOX1):c.76G>T (p.Gly26Ter)	RBFOX1 (G26*)	Single nucleotide variant (nonsense +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 420861	NM_145893.3(RBFOX1):c.79C>G (p.Leu27Val)	RBFOX1 (L27V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 529516	NM_145893.3(RBFOX1):c.83T>C (p.Ile28Thr)	RBFOX1 (I28T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1014079	NM_145893.3(RBFOX1):c.84T>G (p.Ile28Met)	RBFOX1 (I28M)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1410525	NM_145893.3(RBFOX1):c.85C>T (p.Gln29Ter)	RBFOX1 (Q29*)	Single nucleotide variant (nonsense +1 more)	Idiopathic generalized epilepsy	GUncertain significance

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