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


32 records found for search term Tbcel
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597761972CV3619215single nucleotide variantNM_001363644.2(TBCEL):c.10C>A (p.Pro4Thr)not specified [RCV004869532]uncertain significance11121045700121045700Humanname
401859858CV2794418single nucleotide variantNM_001363644.2(TBCEL):c.74G>A (p.Arg25His)not provided [RCV003387586]uncertain significance11121045764121045764Humanname
156220232CV2254130single nucleotide variantNM_001363644.2(TBCEL):c.143A>G (p.Asn48Ser)not specified [RCV004129568]uncertain significance11121047537121047537Humanname
156249238CV2358841single nucleotide variantNM_001363644.2(TBCEL):c.292A>C (p.Asn98His)not specified [RCV004212189]uncertain significance11121053569121053569Humanname
401741048CV2680536single nucleotide variantNM_001363644.2(TBCEL):c.122C>G (p.Ser41Cys)not specified [RCV004291170]uncertain significance11121045812121045812Humanname
401762374CV2723417single nucleotide variantNM_001363644.2(TBCEL):c.274G>A (p.Val92Ile)not specified [RCV004323493]uncertain significance11121053551121053551Humanname
401898210CV2790953single nucleotide variantNM_001363644.2(TBCEL):c.122C>T (p.Ser41Phe)not specified [RCV004354584]uncertain significance11121045812121045812Humanname
405791476CV3335368single nucleotide variantNM_001363644.2(TBCEL):c.110C>A (p.Thr37Lys)not specified [RCV004474130]uncertain significance11121045800121045800Humanname
597761969CV3619214single nucleotide variantNM_001363644.2(TBCEL):c.220G>A (p.Ala74Thr)not specified [RCV004869531]uncertain significance11121047614121047614Humanname
8633886CV89102single nucleotide variantNM_001130047.1(TBCEL):c.1047C>T (p.His349=)Malignant melanoma [RCV000069199]not provided11121086868121086868Humanname
156185920CV2195608single nucleotide variantNM_001363644.2(TBCEL):c.733A>G (p.Ile245Val)not specified [RCV004082816]uncertain significance11121058365121058365Humanname
156017323CV2295571single nucleotide variantNM_001363644.2(TBCEL):c.503G>C (p.Cys168Ser)not specified [RCV004160662]uncertain significance11121055099121055099Humanname
156083753CV2369056single nucleotide variantNM_001363644.2(TBCEL):c.435G>T (p.Met145Ile)not specified [RCV004207987]uncertain significance11121053712121053712Humanname
156247356CV2396895single nucleotide variantNM_001363644.2(TBCEL):c.608A>T (p.Asp203Val)not specified [RCV004234016]uncertain significance11121055204121055204Humanname
405285129CV3202488single nucleotide variantNM_001363644.2(TBCEL):c.436A>T (p.Ile146Leu)TBCEL-related disorder [RCV003909750]likely benign11121053713121053713Humanname , trait , alternate_id
405791472CV3335369single nucleotide variantNM_001363644.2(TBCEL):c.382G>A (p.Val128Ile)not specified [RCV004474131]uncertain significance11121053659121053659Humanname
405791471CV3335370single nucleotide variantNM_001363644.2(TBCEL):c.511A>G (p.Ile171Val)not specified [RCV004474132]uncertain significance11121055107121055107Humanname
405791468CV3335371single nucleotide variantNM_001363644.2(TBCEL):c.578G>A (p.Arg193Gln)not specified [RCV004474133]uncertain significance11121055174121055174Humanname
405791465CV3335372single nucleotide variantNM_001363644.2(TBCEL):c.595T>C (p.Phe199Leu)not specified [RCV004474134]uncertain significance11121055191121055191Humanname
405791462CV3335373single nucleotide variantNM_001363644.2(TBCEL):c.689G>A (p.Arg230Gln)not specified [RCV004474135]uncertain significance11121055285121055285Humanname
405791459CV3335374single nucleotide variantNM_001363644.2(TBCEL):c.757A>C (p.Lys253Gln)not specified [RCV004474136]uncertain significance11121058389121058389Humanname
597761952CV3619211single nucleotide variantNM_001363644.2(TBCEL):c.379G>A (p.Gly127Arg)not specified [RCV004869528]uncertain significance11121053656121053656Humanname
597761963CV3619213single nucleotide variantNM_001363644.2(TBCEL):c.670A>G (p.Arg224Gly)not specified [RCV004869530]uncertain significance11121055266121055266Humanname
597761977CV3619216single nucleotide variantNM_001363644.2(TBCEL):c.941A>G (p.Glu314Gly)not specified [RCV004869533]uncertain significance11121060070121060070Humanname
598208523CV3912967single nucleotide variantNM_001363644.2(TBCEL):c.616G>A (p.Val206Ile)not specified [RCV005291501]uncertain significance11121055212121055212Humanname
598208528CV3912968single nucleotide variantNM_001363644.2(TBCEL):c.647A>C (p.Glu216Ala)not specified [RCV005291502]uncertain significance11121055243121055243Humanname
8626923CV82067single nucleotide variantNM_001130047.1(TBCEL):c.940G>A (p.Glu314Lys)Malignant melanoma [RCV000062146]not provided11121060069121060069Humanname
155931340CV2399825single nucleotide variantNM_001363644.2(TBCEL):c.1130A>G (p.Gln377Arg)not specified [RCV004245626]uncertain significance11121086951121086951Humanname
329372612CV2451568single nucleotide variantNM_001363644.2(TBCEL):c.1135C>T (p.Pro379Ser)not specified [RCV004274505]uncertain significance11121086956121086956Humanname
8633885CV89101single nucleotide variantNM_001130047.1(TBCEL):c.1046A>T (p.His349Leu)Malignant melanoma [RCV000069198]not provided11121086867121086867Humanname
8633887CV89103single nucleotide variantNM_001130047.1(TBCEL):c.1078C>T (p.Arg360Cys)Malignant melanoma [RCV000069200]not provided11121086899121086899Humanname
8633888CV89104single nucleotide variantNM_001130047.1(TBCEL):c.1223C>T (p.Ser408Phe)Malignant melanoma [RCV000069201]not provided11121087044121087044Humanname