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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


40 records found for search term Fhit
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405283002CV3216944single nucleotide variantNM_002012.4(FHIT):c.104-64T>CFHIT-related disorder [RCV003979103]likely benign36001421660014216Humanname , trait , alternate_id
8578701CV113089single nucleotide variantNM_002012.2(FHIT):c.104-55884A>GLung cancer [RCV000093612]uncertain significance36007003660070036Humanname
8578704CV113092single nucleotide variantNM_002012.2(FHIT):c.103+37045G>CLung cancer [RCV000093615]uncertain significance36049981560499815Humanname
8578705CV113093single nucleotide variantNM_002012.2(FHIT):c.-17-43980A>GLung cancer [RCV000093616]uncertain significance36058095960580959Humanname
8578706CV113094single nucleotide variantNM_002012.2(FHIT):c.-17-73468A>TLung cancer [RCV000093617]uncertain significance36061044760610447Humanname
8578710CV113098single nucleotide variantNM_002012.2(FHIT):c.-213+4477C>TLung cancer [RCV000093621]uncertain significance36124682461246824Humanname
8578702CV113090single nucleotide variantNM_002012.2(FHIT):c.104-130748G>CLung cancer [RCV000093613]uncertain significance36014489860144898Humanname
8578707CV113095single nucleotide variantNM_002012.2(FHIT):c.-17-127205A>GLung cancer [RCV000093618]uncertain significance36066418460664184Humanname
8578708CV113096single nucleotide variantNM_002012.2(FHIT):c.-110-39647G>TLung cancer [RCV000093619]uncertain significance36086168060861680Humanname
13208137CV424558single nucleotide variantNM_002012.4(FHIT):c.104-196657C>ALip and oral cavity carcinoma [RCV000496002]association36021080960210809Human1name
15151254CV720616single nucleotide variantNM_002012.4(FHIT):c.6G>T (p.Ser2=)not provided [RCV000879557]benign36053695760536957Humanname
15118082CV748494single nucleotide variantNM_002012.4(FHIT):c.69C>T (p.Phe23=)not provided [RCV000917911]likely benign36053689460536894Humanname
156115868CV2349335single nucleotide variantNM_002012.4(FHIT):c.25C>G (p.Leu9Val)not specified [RCV004199276]uncertain significance36053693860536938Humanname
401775872CV2692520single nucleotide variantNM_002012.4(FHIT):c.38C>A (p.Ser13Tyr)not specified [RCV004312268]uncertain significance36053692560536925Humanname
401757474CV2735037single nucleotide variantNM_002012.4(FHIT):c.56C>T (p.Thr19Ile)not specified [RCV004333737]uncertain significance36053690760536907Humanname
15114818CV734264single nucleotide variantNM_002012.4(FHIT):c.426G>A (p.Leu142=)not provided [RCV000894921]likely benign35975224459752244Humanname
8630934CV86090single nucleotide variantNM_002012.2(FHIT):c.381C>T (p.Ala127=)Malignant melanoma [RCV000066174]not provided35975228959752289Humanname
156042750CV2305716single nucleotide variantNM_002012.4(FHIT):c.137G>A (p.Arg46His)not specified [RCV004167534]uncertain significance36001411960014119Humanname
156102538CV2313591single nucleotide variantNM_002012.4(FHIT):c.194T>G (p.Val65Gly)not specified [RCV004157528]uncertain significance36001406260014062Humanname
329379431CV2443407single nucleotide variantNM_002012.4(FHIT):c.242C>G (p.Ser81Cys)not specified [RCV004262249]uncertain significance36001401460014014Humanname
329378432CV2447009single nucleotide variantNM_002012.4(FHIT):c.116G>A (p.Cys39Tyr)not specified [RCV004257845]uncertain significance36001414060014140Humanname
401778866CV2732942single nucleotide variantNM_002012.4(FHIT):c.152G>A (p.Arg51His)not specified [RCV004331119]uncertain significance36001410460014104Humanname
401870470CV2762755single nucleotide variantNM_002012.4(FHIT):c.199A>G (p.Thr67Ala)not specified [RCV004340311]uncertain significance36001405760014057Humanname
405778763CV3250528single nucleotide variantNM_002012.4(FHIT):c.182C>T (p.Thr61Met)not specified [RCV004386401]uncertain significance36001407460014074Humanname
597752958CV3669483single nucleotide variantNM_002012.4(FHIT):c.215A>G (p.His72Arg)not specified [RCV004924031]uncertain significance36001404160014041Humanname
598242535CV3955717single nucleotide variantNM_002012.4(FHIT):c.119C>T (p.Pro40Leu)not specified [RCV005344546]uncertain significance36001413760014137Humanname
156037730CV2278864single nucleotide variantNM_002012.4(FHIT):c.341A>G (p.Tyr114Cys)not specified [RCV004145570]uncertain significance35992235359922353Humanname
156297965CV2310572single nucleotide variantNM_002012.4(FHIT):c.430G>A (p.Val144Ile)not specified [RCV004163589]uncertain significance35975224059752240Humanname
329360339CV2446683single nucleotide variantNM_002012.4(FHIT):c.346G>A (p.Glu116Lys)not specified [RCV004251567]likely benign35992234859922348Humanname
329368856CV2450439single nucleotide variantNM_002012.4(FHIT):c.329A>G (p.Asn110Ser)not specified [RCV004265365]uncertain significance35992236559922365Humanname
405261150CV3212394single nucleotide variantNM_002012.4(FHIT):c.301C>T (p.Pro101Ser)FHIT-related disorder [RCV003944404]likely benign35992239359922393Humanname , trait , alternate_id
405779515CV3250529single nucleotide variantNM_002012.4(FHIT):c.412G>A (p.Glu138Lys)not specified [RCV004386402]uncertain significance35975225859752258Humanname
405779507CV3250530single nucleotide variantNM_002012.4(FHIT):c.421G>T (p.Ala141Ser)not specified [RCV004386403]uncertain significance35975224959752249Humanname
598209597CV3894951deletionNM_002012.4(FHIT):c.349-22633_349-22622delFamilial ovarian cancer [RCV005358417]uncertain significance35977494359774954Human1name
598209605CV3894952duplicationNM_002012.4(FHIT):c.349-22663_349-22658dupFamilial ovarian cancer [RCV005358418]uncertain significance35977497859774979Human1name
598209614CV3894953duplicationNM_002012.4(FHIT):c.349-22879_349-22871dupFamilial ovarian cancer [RCV005358419]uncertain significance35977519159775192Human1name
598218094CV3895446deletionNM_002012.4(FHIT):c.349-82457_349-82454delHereditary breast ovarian cancer syndrome [RCV005360317]likely benign35983477559834778Human1name
598218109CV3895448deletionNM_002012.4(FHIT):c.280-26275_280-26274delFamilial cancer of breast [RCV005360319]uncertain significance35994868859948689Human1name
598244150CV3895449deletionNM_002012.4(FHIT):c.280-26365_280-26364delHereditary breast ovarian cancer syndrome [RCV005365634]pathogenic35994877859948779Human1name
41407594CV963012deletionNM_002012.4(FHIT):c.103+32489_103+54184delMegacolon [RCV001290049]likely pathogenic36048267660504371Human2name