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


44 records found for search term Penk
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15104189CV759744single nucleotide variantNM_001135690.3(PENK):c.139-9T>Cnot provided [RCV000915304]likely benign85644194656441946Humanname
15159790CV751209single nucleotide variantNM_001135690.3(PENK):c.66G>A (p.Val22=)not provided [RCV000925351]benign85644588856445888Humanname
401924021CV2821096single nucleotide variantNM_001135690.3(PENK):c.201G>A (p.Glu67=)not provided [RCV003435502]likely benign85644187556441875Humanname
15110146CV723155single nucleotide variantNM_001135690.3(PENK):c.255A>G (p.Arg85=)not provided [RCV000894002]benign85644182156441821Humanname
15166280CV751208single nucleotide variantNM_001135690.3(PENK):c.261T>C (p.Asn87=)not provided [RCV000926830]likely benign85644181556441815Humanname
155903715CV2298667single nucleotide variantNM_001135690.3(PENK):c.73G>A (p.Glu25Lys)not specified [RCV004156245]uncertain significance85644588156445881Humanname
156058027CV2316853single nucleotide variantNM_001135690.3(PENK):c.52C>A (p.Leu18Ile)not specified [RCV004174381]uncertain significance85644590256445902Humanname
401877224CV2790093single nucleotide variantNM_001135690.3(PENK):c.74A>C (p.Glu25Ala)not specified [RCV004364039]uncertain significance85644588056445880Humanname
407528779CV3470638single nucleotide variantNM_001135690.3(PENK):c.68G>T (p.Arg23Leu)not specified [RCV004655701]uncertain significance85644588656445886Humanname
15115537CV711591single nucleotide variantNM_001135690.3(PENK):c.783C>T (p.Tyr261=)not provided [RCV000961867]benign85644129356441293Humanname
15115544CV711592single nucleotide variantNM_001135690.3(PENK):c.729C>T (p.Ser243=)not provided [RCV000961868]benign85644134756441347Humanname
8633049CV88263single nucleotide variantNM_001135690.1(PENK):c.423G>A (p.Lys141=)Malignant melanoma [RCV000068355]not provided85644165356441653Humanname
156399112CV2194989single nucleotide variantNM_001135690.3(PENK):c.172T>C (p.Ser58Pro)not specified [RCV004077554]uncertain significance85644190456441904Humanname
156071516CV2229207single nucleotide variantNM_001135690.3(PENK):c.211C>G (p.Leu71Val)not specified [RCV004101025]uncertain significance85644186556441865Humanname
156349238CV2309333single nucleotide variantNM_001135690.3(PENK):c.100A>C (p.Ser34Arg)not specified [RCV004165488]uncertain significance85644585456445854Humanname
401772361CV2687500single nucleotide variantNM_001135690.3(PENK):c.279C>A (p.Ser93Arg)not specified [RCV004300735]uncertain significance85644179756441797Humanname
15158645CV700620single nucleotide variantNM_001135690.3(PENK):c.248C>A (p.Thr83Asn)not provided [RCV000947112]benign85644182856441828Humanname
8626591CV81735single nucleotide variantNM_001135690.1(PENK):c.229C>T (p.Pro77Ser)Malignant melanoma [RCV000061813]not provided85644184756441847Humanname
156245319CV2231671single nucleotide variantNM_001135690.3(PENK):c.544G>C (p.Val182Leu)not specified [RCV004098233]uncertain significance85644153256441532Humanname
155960416CV2252822single nucleotide variantNM_001135690.3(PENK):c.733G>A (p.Glu245Lys)not specified [RCV004120441]uncertain significance85644134356441343Humanname
156275436CV2255669single nucleotide variantNM_001135690.3(PENK):c.757G>A (p.Glu253Lys)not specified [RCV004120071]uncertain significance85644131956441319Humanname
155961719CV2285567single nucleotide variantNM_001135690.3(PENK):c.508A>G (p.Ser170Gly)not specified [RCV004141445]likely benign85644156856441568Humanname
156232092CV2346081single nucleotide variantNM_001135690.3(PENK):c.376G>A (p.Ala126Thr)not specified [RCV004201550]uncertain significance85644170056441700Humanname
156009142CV2361963single nucleotide variantNM_001135690.3(PENK):c.656G>A (p.Arg219His)not specified [RCV004207731]uncertain significance85644142056441420Humanname
156211901CV2370406single nucleotide variantNM_001135690.3(PENK):c.568A>G (p.Met190Val)not specified [RCV004213303]uncertain significance85644150856441508Humanname
329391789CV2445046single nucleotide variantNM_001135690.3(PENK):c.340A>G (p.Met114Val)not specified [RCV004261656]uncertain significance85644173656441736Humanname
329393605CV2453463single nucleotide variantNM_001135690.3(PENK):c.404G>A (p.Arg135Gln)not specified [RCV004267065]uncertain significance85644167256441672Humanname
329376829CV2455202single nucleotide variantNM_001135690.3(PENK):c.520G>A (p.Asp174Asn)not specified [RCV004274431]uncertain significance85644155656441556Humanname
329395865CV2463017single nucleotide variantNM_001135690.3(PENK):c.686G>T (p.Arg229Leu)not specified [RCV004272839]uncertain significance85644139056441390Humanname
329363216CV2464967single nucleotide variantNM_001135690.3(PENK):c.500G>A (p.Arg167Gln)not specified [RCV004284883]uncertain significance85644157656441576Humanname
405790572CV3368368single nucleotide variantNM_001135690.3(PENK):c.397G>A (p.Ala133Thr)not specified [RCV004505788]uncertain significance85644167956441679Humanname
405790575CV3368369single nucleotide variantNM_001135690.3(PENK):c.410G>C (p.Gly137Ala)not specified [RCV004505789]uncertain significance85644166656441666Humanname
405790581CV3368371single nucleotide variantNM_001135690.3(PENK):c.612A>C (p.Lys204Asn)not specified [RCV004505791]uncertain significance85644146456441464Humanname
405790585CV3368372single nucleotide variantNM_001135690.3(PENK):c.655C>G (p.Arg219Gly)not specified [RCV004505792]uncertain significance85644142156441421Humanname
405790588CV3368373single nucleotide variantNM_001135690.3(PENK):c.688T>G (p.Tyr230Asp)not specified [RCV004505793]uncertain significance85644138856441388Humanname
407463964CV3470635single nucleotide variantNM_001135690.3(PENK):c.563G>C (p.Gly188Ala)not specified [RCV004659832]uncertain significance85644151356441513Humanname
407463968CV3470636single nucleotide variantNM_001135690.3(PENK):c.551A>G (p.Lys184Arg)not specified [RCV004659833]uncertain significance85644152556441525Humanname
407528778CV3470637single nucleotide variantNM_001135690.3(PENK):c.402G>C (p.Lys134Asn)not specified [RCV004655700]uncertain significance85644167456441674Humanname
407528781CV3470639single nucleotide variantNM_001135690.3(PENK):c.575G>T (p.Gly192Val)not specified [RCV004655702]uncertain significance85644150156441501Humanname
597723111CV3575589single nucleotide variantNM_001135690.3(PENK):c.707G>A (p.Arg236His)not specified [RCV004842075]uncertain significance85644136956441369Humanname
598261516CV3999585single nucleotide variantNM_001135690.3(PENK):c.637T>C (p.Phe213Leu)not specified [RCV005386903]uncertain significance85644143956441439Humanname
598261521CV3999586single nucleotide variantNM_001135690.3(PENK):c.674A>G (p.Asp225Gly)not specified [RCV005386904]uncertain significance85644140256441402Humanname
598261526CV3999587single nucleotide variantNM_001135690.3(PENK):c.730G>A (p.Asp244Asn)not specified [RCV005386905]likely benign85644134656441346Humanname
15185378CV723154single nucleotide variantNM_001135690.3(PENK):c.647G>A (p.Arg216Lys)not provided [RCV000886679]likely benign85644142956441429Humanname