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


27 records found for search term Extl2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156250744CV2196355single nucleotide variantNM_001033025.3(EXTL2):c.16A>G (p.Ile6Val)not specified [RCV004072529]uncertain significance1100877893100877893Humanname
156395320CV2329127single nucleotide variantNM_001033025.3(EXTL2):c.32G>A (p.Gly11Glu)not specified [RCV004173888]uncertain significance1100877877100877877Humanname
407500253CV3438683single nucleotide variantNM_001033025.3(EXTL2):c.89T>C (p.Leu30Ser)not specified [RCV004623003]uncertain significance1100877820100877820Humanname
597716628CV3675356single nucleotide variantNM_001033025.3(EXTL2):c.82G>A (p.Val28Ile)not specified [RCV004918344]uncertain significance1100877827100877827Humanname
598211403CV3954938single nucleotide variantNM_001033025.3(EXTL2):c.53T>C (p.Val18Ala)not specified [RCV005338902]uncertain significance1100877856100877856Humanname
598194755CV3954939single nucleotide variantNM_001033025.3(EXTL2):c.46A>G (p.Ile16Val)not specified [RCV005335453]uncertain significance1100877863100877863Humanname
156259305CV2216207single nucleotide variantNM_001033025.3(EXTL2):c.113C>T (p.Ala38Val)not specified [RCV004097180]uncertain significance1100877796100877796Humanname
329390503CV2459298single nucleotide variantNM_001033025.3(EXTL2):c.268C>T (p.Pro90Ser)not specified [RCV004274722]uncertain significance1100877641100877641Humanname
405775074CV3252796single nucleotide variantNM_001033025.3(EXTL2):c.265G>A (p.Val89Ile)not specified [RCV004385681]likely benign1100877644100877644Humanname
407500257CV3438684single nucleotide variantNM_001033025.3(EXTL2):c.187A>T (p.Met63Leu)not specified [RCV004623004]likely benign1100877722100877722Humanname
598211394CV3954936single nucleotide variantNM_001033025.3(EXTL2):c.155G>A (p.Arg52His)not specified [RCV005338901]uncertain significance1100877754100877754Humanname
156068437CV2317990single nucleotide variantNM_001033025.3(EXTL2):c.704C>T (p.Ala235Val)not specified [RCV004177107]uncertain significance1100874231100874231Humanname
155904959CV2349632single nucleotide variantNM_001033025.3(EXTL2):c.834T>A (p.Ser278Arg)not specified [RCV004204052]uncertain significance1100874101100874101Humanname
401729019CV2693993single nucleotide variantNM_001033025.3(EXTL2):c.356T>C (p.Ile119Thr)not specified [RCV004300280]uncertain significance1100877553100877553Humanname
401778914CV2732980single nucleotide variantNM_001033025.3(EXTL2):c.320C>A (p.Pro107Gln)not specified [RCV004331156]uncertain significance1100877589100877589Humanname
405775068CV3252797single nucleotide variantNM_001033025.3(EXTL2):c.473C>T (p.Pro158Leu)not specified [RCV004385682]uncertain significance1100876825100876825Humanname
405775062CV3252798single nucleotide variantNM_001033025.3(EXTL2):c.493T>G (p.Ser165Ala)not specified [RCV004385683]uncertain significance1100876805100876805Humanname
405775058CV3252799single nucleotide variantNM_001033025.3(EXTL2):c.895A>C (p.Lys299Gln)not specified [RCV004385684]uncertain significance1100874040100874040Humanname
597716637CV3675357single nucleotide variantNM_001033025.3(EXTL2):c.317C>T (p.Ala106Val)not specified [RCV004918345]uncertain significance1100877592100877592Humanname
597716647CV3675358single nucleotide variantNM_001033025.3(EXTL2):c.805A>G (p.Met269Val)not specified [RCV004918346]uncertain significance1100874130100874130Humanname
597716655CV3675359single nucleotide variantNM_001033025.3(EXTL2):c.622T>C (p.Tyr208His)not specified [RCV004918347]uncertain significance1100874313100874313Humanname
597716664CV3675360single nucleotide variantNM_001033025.3(EXTL2):c.786A>G (p.Ile262Met)not specified [RCV004918348]uncertain significance1100874149100874149Humanname
597716681CV3675362single nucleotide variantNM_001033025.3(EXTL2):c.763C>A (p.His255Asn)not specified [RCV004918350]uncertain significance1100874172100874172Humanname
597716692CV3675363single nucleotide variantNM_001033025.3(EXTL2):c.565A>G (p.Ile189Val)not specified [RCV004918351]likely benign1100874370100874370Humanname
597716701CV3675364single nucleotide variantNM_001033025.3(EXTL2):c.688C>T (p.Pro230Ser)not specified [RCV004918352]uncertain significance1100874247100874247Humanname
598211388CV3954935single nucleotide variantNM_001033025.3(EXTL2):c.660C>A (p.Ser220Arg)not specified [RCV005338900]uncertain significance1100874275100874275Humanname
8624633CV79746single nucleotide variantNM_001033025.2(EXTL2):c.989T>A (p.Ile330Lys)Malignant melanoma [RCV000059822]not provided1100873946100873946Humanname