RBFOX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 146375	GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3	ALG1, C16orf89 +29 more	Copy number gain	See cases	GLikely benign
Select item 155214	GRCh38/hg38 16p13.3(chr16:5028859-5255498)x1	ALG1, C16orf89 +16 more	Copy number loss	See cases	GUncertain significance
Select item 151824	GRCh38/hg38 16p13.3(chr16:5563365-5967775)x3	LINC01570, LOC126862272 +5 more	Copy number gain	See cases	GBenign
Select item 59433	GRCh38/hg38 16p13.3-13.2(chr16:5589104-8091212)x1	LOC126862273, LOC126862274 +21 more	Copy number loss	See cases	GPathogenic
Select item 153369	GRCh38/hg38 16p13.3(chr16:5868205-6103461)x1	LOC107522031, LOC126862274 +2 more	Copy number loss	See cases	GUncertain significance
Select item 59459	GRCh38/hg38 16p13.3(chr16:5959600-6121461)x1	LOC107522031, LOC126862274 +2 more	Copy number loss	See cases	GPathogenic
Select item 153373	GRCh38/hg38 16p13.3(chr16:5961957-6028180)x3	LOC126862274, LOC126862275 +1 more	Copy number gain	See cases	GUncertain significance
Select item 57214	GRCh38/hg38 16p13.3(chr16:5967775-6629301)x3	LOC107522031, LOC126862274 +2 more	Copy number gain	See cases	GUncertain significance
Select item 154112	GRCh38/hg38 16p13.3(chr16:5988715-6029854)x3	LOC126862274, LOC126862275 +1 more	Copy number gain	See cases	GUncertain significance
Select item 585482	NM_018723.4(RBFOX1):c.-229C>G	RBFOX1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 151588	GRCh38/hg38 16p13.3(chr16:6081104-6735606)x3	LOC107522031, RBFOX1	Copy number gain	See cases	GUncertain significance
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 59462	GRCh38/hg38 16p13.3(chr16:6327243-7195429)x1	LOC126862276, LOC126862277 +2 more	Copy number loss	See cases	GPathogenic
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)	Idiopathic generalized epilepsy	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 545209	NC_000016.10:g.(?_6631947)_(7029167_?)del	LOC129390761, RBFOX1	Deletion	Schizophrenia	GLikely pathogenic
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 59463	GRCh38/hg38 16p13.3(chr16:6698766-7028200)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GPathogenic
Select item 153397	GRCh38/hg38 16p13.3(chr16:6700078-7072768)x3	LOC129390761, RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 148375	GRCh38/hg38 16p13.3(chr16:6704660-7072614)x3	LOC129390761, RBFOX1	Copy number gain	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 59465	GRCh38/hg38 16p13.3(chr16:6717241-7051313)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GPathogenic
Select item 59464	GRCh38/hg38 16p13.3(chr16:6717241-7051313)x3	LOC129390761, RBFOX1	Copy number gain	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 154948	GRCh38/hg38 16p13.3(chr16:6723517-7136821)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 152601	GRCh38/hg38 16p13.3(chr16:6735606-7038925)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GLikely benign
Select item 152587	GRCh38/hg38 16p13.3(chr16:6735606-7051254)x3	LOC129390761, RBFOX1	Copy number gain	See cases	GLikely benign
Select item 146416	GRCh38/hg38 16p13.3(chr16:6735606-7051313)x3	LOC129390761, RBFOX1	Copy number gain	See cases	Gconflicting data from submitters
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 154855	GRCh38/hg38 16p13.3(chr16:6815898-7055053)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 149699	GRCh38/hg38 16p13.3(chr16:6819368-7066203)x1	LOC129390761, 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 58247	GRCh38/hg38 16p13.3(chr16:6870911-7020688)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
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 2665050	NC_000016.10:g.6905044_7356822del	LOC125146396, LOC126862276 +5 more	Deletion	not provided	GUncertain significance
Select item 155124	GRCh38/hg38 16p13.3(chr16:6922247-7055053)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
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 150017	GRCh38/hg38 16p13.3(chr16:6976343-7082652)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 155292	GRCh38/hg38 16p13.3(chr16:6984266-7093878)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 152590	GRCh38/hg38 16p13.3(chr16:6996159-7051254)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GLikely benign
Select item 153331	GRCh38/hg38 16p13.3(chr16:7002372-7146613)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 155148	GRCh38/hg38 16p13.3(chr16:7003812-7188664)x1	LOC126862276, LOC126862277 +2 more	Copy number loss	See cases	GUncertain significance
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

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