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265 records found for search term Ptpn13
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
9687462CV171949single nucleotide variantNM_080683.2(PTPN13):c.1196-7C>TMalignant melanoma of skin [RCV000149689]not provided48671652386716523Humanname
9687463CV171950single nucleotide variantNM_080683.2(PTPN13):c.3224-7C>TMalignant melanoma of skin [RCV000149690]not provided48675825386758253Humanname
9687464CV171951single nucleotide variantNM_080683.2(PTPN13):c.3314-7T>GMalignant melanoma of skin [RCV000149691]not provided48675867186758671Humanname
598208963CV3894818single nucleotide variantNM_080683.3(PTPN13):c.3068+1G>Tnot provided [RCV005358294]not provided48675088886750888Humanname
15099308CV777397single nucleotide variantNM_080683.3(PTPN13):c.2151+3A>Gnot provided [RCV000958742]benign48673487886734878Humanname
401928277CV2822651single nucleotide variantNM_080683.3(PTPN13):c.21G>A (p.Glu7=)not provided [RCV003439385]likely benign48663527786635277Humanname
597782122CV3585070single nucleotide variantNM_080683.3(PTPN13):c.52G>A (p.Glu18Lys)not specified [RCV004853906]uncertain significance48663530886635308Humanname
15145777CV734752single nucleotide variantNM_080683.3(PTPN13):c.819C>T (p.Ser273=)not provided [RCV000900215]benign48670142586701425Humanname
401739021CV2673206single nucleotide variantNM_080683.3(PTPN13):c.272C>G (p.Thr91Ser)not specified [RCV004286015]likely benign48667252186672521Humanname
405688876CV3318318single nucleotide variantNM_080683.3(PTPN13):c.218A>G (p.Asn73Ser)not specified [RCV004444951]uncertain significance48667246786672467Humanname
407472472CV3468373single nucleotide variantNM_080683.3(PTPN13):c.242C>T (p.Ala81Val)not specified [RCV004662511]uncertain significance48667249186672491Humanname
15153899CV721099single nucleotide variantNM_080683.3(PTPN13):c.268C>G (p.Leu90Val)PTPN13-related disorder [RCV005392498]|not provided [RCV000880104]benign|likely benign48667251786672517Humanname , trait
126911247CV1037516single nucleotide variantNM_080683.3(PTPN13):c.865G>A (p.Gly289Ser)not provided [RCV001355152]likely benign48670147186701471Humanname
156045971CV2234560single nucleotide variantNM_080683.3(PTPN13):c.661G>C (p.Asp221His)not specified [RCV004102537]uncertain significance48670126786701267Humanname
156177792CV2258192single nucleotide variantNM_080683.3(PTPN13):c.379C>A (p.His127Asn)not specified [RCV004121571]uncertain significance48668902386689023Humanname
156017340CV2262827single nucleotide variantNM_080683.3(PTPN13):c.662A>G (p.Asp221Gly)not specified [RCV004131244]uncertain significance48670126886701268Humanname
155957356CV2282056single nucleotide variantNM_080683.3(PTPN13):c.931A>G (p.Arg311Gly)not specified [RCV004138806]uncertain significance48670153786701537Humanname
155995299CV2286513single nucleotide variantNM_080683.3(PTPN13):c.569G>A (p.Ser190Asn)not specified [RCV004140014]uncertain significance48669360986693609Humanname
156102586CV2291510single nucleotide variantNM_080683.3(PTPN13):c.744T>G (p.Asp248Glu)not specified [RCV004155819]uncertain significance48670135086701350Humanname
156044508CV2305932single nucleotide variantNM_080683.3(PTPN13):c.676C>T (p.Pro226Ser)not specified [RCV004167714]uncertain significance48670128286701282Humanname
329387142CV2436288single nucleotide variantNM_080683.3(PTPN13):c.995G>A (p.Arg332Gln)not specified [RCV004251694]uncertain significance48670160186701601Humanname
401729218CV2683608single nucleotide variantNM_080683.3(PTPN13):c.608G>A (p.Arg203Gln)not specified [RCV004282533]uncertain significance48669364886693648Humanname
401732988CV2691169single nucleotide variantNM_080683.3(PTPN13):c.614G>A (p.Arg205Gln)not specified [RCV004302946]uncertain significance48669365486693654Humanname
401861618CV2756378single nucleotide variantNM_080683.3(PTPN13):c.794G>A (p.Arg265His)not specified [RCV004342920]likely benign48670140086701400Humanname
401885294CV2768056single nucleotide variantNM_080683.3(PTPN13):c.547A>G (p.Thr183Ala)not specified [RCV004348295]uncertain significance48669358786693587Humanname
401923411CV2822652single nucleotide variantNM_080683.3(PTPN13):c.6684G>A (p.Gln2228=)not provided [RCV003435072]likely benign48680530886805308Humanname
405688947CV3318333single nucleotide variantNM_080683.3(PTPN13):c.440G>A (p.Arg147Gln)not specified [RCV004444966]uncertain significance48668908486689084Humanname
405688964CV3318336single nucleotide variantNM_080683.3(PTPN13):c.505G>A (p.Val169Met)not specified [RCV004444969]uncertain significance48668914986689149Humanname
405688990CV3318342single nucleotide variantNM_080683.3(PTPN13):c.572A>C (p.Glu191Ala)not specified [RCV004444975]uncertain significance48669361286693612Humanname
405688995CV3318343single nucleotide variantNM_080683.3(PTPN13):c.572A>T (p.Glu191Val)not specified [RCV004444976]uncertain significance48669361286693612Humanname
405689003CV3318345single nucleotide variantNM_080683.3(PTPN13):c.602G>A (p.Arg201Gln)not specified [RCV004444978]uncertain significance48669364286693642Humanname
405689075CV3318360single nucleotide variantNM_080683.3(PTPN13):c.826C>G (p.Gln276Glu)not specified [RCV004444993]uncertain significance48670143286701432Humanname
405689080CV3318361single nucleotide variantNM_080683.3(PTPN13):c.953C>T (p.Thr318Ile)not specified [RCV004444994]uncertain significance48670155986701559Humanname
405689085CV3318362single nucleotide variantNM_080683.3(PTPN13):c.985G>A (p.Val329Ile)not specified [RCV004444995]uncertain significance48670159186701591Humanname
407472479CV3468374single nucleotide variantNM_080683.3(PTPN13):c.904T>C (p.Ser302Pro)not specified [RCV004662512]uncertain significance48670151086701510Humanname
407472503CV3468379single nucleotide variantNM_080683.3(PTPN13):c.524T>C (p.Leu175Pro)not specified [RCV004662516]uncertain significance48668916886689168Humanname
597782126CV3585071single nucleotide variantNM_080683.3(PTPN13):c.654T>A (p.Asp218Glu)not specified [RCV004853907]uncertain significance48670126086701260Humanname
598181509CV3904836single nucleotide variantNM_080683.3(PTPN13):c.994C>T (p.Arg332Trp)not specified [RCV005265230]uncertain significance48670160086701600Humanname
598181515CV3904837single nucleotide variantNM_080683.3(PTPN13):c.482A>G (p.Asn161Ser)not specified [RCV005265231]uncertain significance48668912686689126Humanname
598181561CV3904846single nucleotide variantNM_080683.3(PTPN13):c.992T>G (p.Val331Gly)not specified [RCV005265240]uncertain significance48670159886701598Humanname
598181606CV3904858single nucleotide variantNM_080683.3(PTPN13):c.767A>C (p.Lys256Thr)not specified [RCV005265252]uncertain significance48670137386701373Humanname
598176380CV4008118single nucleotide variantNM_080683.3(PTPN13):c.898G>A (p.Ala300Thr)PTPN13-related disorder [RCV005393634]uncertain significance48670150486701504Humanname , trait
598176385CV4008119single nucleotide variantNM_080683.3(PTPN13):c.986T>C (p.Val329Ala)PTPN13-related disorder [RCV005393635]uncertain significance48670159286701592Humanname , trait
15107357CV721100single nucleotide variantNM_080683.3(PTPN13):c.968G>A (p.Arg323His)not provided [RCV000893460]benign48670157486701574Humanname
15106864CV721102single nucleotide variantNM_080683.3(PTPN13):c.7368A>G (p.Gln2456=)not provided [RCV000893364]likely benign48681446186814461Humanname
15169176CV749095single nucleotide variantNM_080683.3(PTPN13):c.5235T>C (p.Ala1745=)not provided [RCV000927444]likely benign48677284486772844Humanname
126914417CV1037517single nucleotide variantNM_080683.3(PTPN13):c.1012A>G (p.Arg338Gly)not provided [RCV001358237]uncertain significance48670161886701618Humanname
126913589CV1037518single nucleotide variantNM_080683.3(PTPN13):c.2404G>A (p.Val802Ile)not provided [RCV001357512]uncertain significance48674173386741733Humanname
126911794CV1037519single nucleotide variantNM_080683.3(PTPN13):c.2834C>T (p.Pro945Leu)not provided [RCV001355768]uncertain significance48675065386750653Humanname
156235334CV2193385single nucleotide variantNM_080683.3(PTPN13):c.2236G>A (p.Glu746Lys)not specified [RCV004072887]uncertain significance48673567886735678Humanname
156084038CV2205557single nucleotide variantNM_080683.3(PTPN13):c.1552A>G (p.Arg518Gly)not specified [RCV004082484]uncertain significance48672237886722378Humanname
156401597CV2207438single nucleotide variantNM_080683.3(PTPN13):c.2714G>A (p.Arg905Gln)not specified [RCV004089924]uncertain significance48675053386750533Humanname
156233108CV2227734single nucleotide variantNM_080683.3(PTPN13):c.2941C>T (p.His981Tyr)not specified [RCV004094120]uncertain significance48675076086750760Humanname
156086980CV2258948single nucleotide variantNM_080683.3(PTPN13):c.2810G>A (p.Cys937Tyr)not specified [RCV004120228]uncertain significance48675062986750629Humanname
156147328CV2289401single nucleotide variantNM_080683.3(PTPN13):c.1904T>C (p.Val635Ala)not specified [RCV004152360]uncertain significance48673434886734348Humanname
156188110CV2302837single nucleotide variantNM_080683.3(PTPN13):c.2374G>A (p.Gly792Arg)not specified [RCV004162740]uncertain significance48674170386741703Humanname
156259288CV2304941single nucleotide variantNM_080683.3(PTPN13):c.2480C>A (p.Ser827Tyr)not specified [RCV004168845]uncertain significance48674180986741809Humanname
156152367CV2307626single nucleotide variantNM_080683.3(PTPN13):c.2351A>G (p.His784Arg)not specified [RCV004168045]uncertain significance48674168086741680Humanname
156326605CV2331973single nucleotide variantNM_080683.3(PTPN13):c.2543C>T (p.Thr848Ile)not specified [RCV004189032]uncertain significance48674502186745021Humanname
156288797CV2332976single nucleotide variantNM_080683.3(PTPN13):c.2450G>A (p.Arg817His)not specified [RCV004194277]uncertain significance48674177986741779Humanname
156288056CV2336266single nucleotide variantNM_080683.3(PTPN13):c.1741G>A (p.Gly581Arg)not specified [RCV004192019]uncertain significance48673264986732649Humanname
156156927CV2359895single nucleotide variantNM_080683.3(PTPN13):c.1400C>T (p.Thr467Ile)not specified [RCV004212745]uncertain significance48672222686722226Humanname
156259864CV2381042single nucleotide variantNM_080683.3(PTPN13):c.2124G>T (p.Gln708His)not specified [RCV004225080]uncertain significance48673484886734848Humanname
155905888CV2393818single nucleotide variantNM_080683.3(PTPN13):c.1607G>T (p.Arg536Met)not specified [RCV004233647]uncertain significance48672243386722433Humanname
329375643CV2441037single nucleotide variantNM_080683.3(PTPN13):c.2709G>A (p.Met903Ile)not specified [RCV004261407]uncertain significance48675052886750528Humanname
329399567CV2443262single nucleotide variantNM_080683.3(PTPN13):c.1096C>G (p.Arg366Gly)not specified [RCV004260067]uncertain significance48670170286701702Humanname
329363347CV2446168single nucleotide variantNM_080683.3(PTPN13):c.2056G>A (p.Asp686Asn)not specified [RCV004264577]uncertain significance48673478086734780Humanname
329395669CV2454450single nucleotide variantNM_080683.3(PTPN13):c.1101A>C (p.Glu367Asp)not specified [RCV004267953]uncertain significance48670170786701707Humanname
329401851CV2457941single nucleotide variantNM_080683.3(PTPN13):c.2068G>C (p.Glu690Gln)not specified [RCV004271526]uncertain significance48673479286734792Humanname
329357003CV2460648single nucleotide variantNM_080683.3(PTPN13):c.2119C>G (p.Leu707Val)not specified [RCV004270699]uncertain significance48673484386734843Humanname
329371136CV2461960single nucleotide variantNM_080683.3(PTPN13):c.1180G>A (p.Ala394Thr)not specified [RCV004271859]uncertain significance48670178686701786Humanname
401771945CV2689663single nucleotide variantNM_080683.3(PTPN13):c.2942A>G (p.His981Arg)not specified [RCV004297590]uncertain significance48675076186750761Humanname
401746694CV2691962single nucleotide variantNM_080683.3(PTPN13):c.1723A>G (p.Asn575Asp)not specified [RCV004301692]uncertain significance48673263186732631Humanname
405688732CV3318312single nucleotide variantNM_080683.3(PTPN13):c.1156A>G (p.Lys386Glu)not specified [RCV004444945]uncertain significance48670176286701762Humanname
405688736CV3318313single nucleotide variantNM_080683.3(PTPN13):c.1528A>G (p.Lys510Glu)not specified [RCV004444946]uncertain significance48672235486722354Humanname
405688740CV3318314single nucleotide variantNM_080683.3(PTPN13):c.1559C>T (p.Pro520Leu)not specified [RCV004444947]uncertain significance48672238586722385Humanname
405688744CV3318315single nucleotide variantNM_080683.3(PTPN13):c.1656A>G (p.Ile552Met)not specified [RCV004444948]uncertain significance48673244786732447Humanname
405688749CV3318316single nucleotide variantNM_080683.3(PTPN13):c.2069A>G (p.Glu690Gly)not specified [RCV004444949]uncertain significance48673479386734793Humanname
405688752CV3318317single nucleotide variantNM_080683.3(PTPN13):c.2168A>G (p.Tyr723Cys)not specified [RCV004444950]uncertain significance48673561086735610Humanname
405688881CV3318319single nucleotide variantNM_080683.3(PTPN13):c.2252A>G (p.His751Arg)not specified [RCV004444952]uncertain significance48673569486735694Humanname
405688885CV3318320single nucleotide variantNM_080683.3(PTPN13):c.2289G>C (p.Glu763Asp)not specified [RCV004444953]uncertain significance48673573186735731Humanname
405688890CV3318321single nucleotide variantNM_080683.3(PTPN13):c.2426A>G (p.Asn809Ser)not specified [RCV004444954]uncertain significance48674175586741755Humanname
405688900CV3318323single nucleotide variantNM_080683.3(PTPN13):c.2806T>C (p.Ser936Pro)not specified [RCV004444956]uncertain significance48675062586750625Humanname
405688904CV3318324single nucleotide variantNM_080683.3(PTPN13):c.2891G>A (p.Arg964Lys)not specified [RCV004444957]uncertain significance48675071086750710Humanname
405688908CV3318325single nucleotide variantNM_080683.3(PTPN13):c.2912A>G (p.His971Arg)not specified [RCV004444958]uncertain significance48675073186750731Humanname
405688914CV3318326single nucleotide variantNM_080683.3(PTPN13):c.2971C>A (p.Pro991Thr)not specified [RCV004444959]uncertain significance48675079086750790Humanname
405869652CV3397881single nucleotide variantNM_080683.3(PTPN13):c.1625A>G (p.Glu542Gly)Meniere disease [RCV004573524]uncertain significance48673241686732416Human1name
405869653CV3397882single nucleotide variantNM_080683.3(PTPN13):c.1931C>T (p.Pro644Leu)Meniere disease [RCV004573525]uncertain significance48673437586734375Human1name
407472499CV3468377single nucleotide variantNM_080683.3(PTPN13):c.1331G>A (p.Ser444Asn)not specified [RCV004662515]uncertain significance48671706386717063Humanname
407472521CV3468384single nucleotide variantNM_080683.3(PTPN13):c.1972T>C (p.Phe658Leu)not specified [RCV004662520]uncertain significance48673441686734416Humanname
407491415CV3468390single nucleotide variantNM_080683.3(PTPN13):c.1037A>G (p.Asp346Gly)not specified [RCV004666888]uncertain significance48670164386701643Humanname
407472546CV3468391single nucleotide variantNM_080683.3(PTPN13):c.2977C>T (p.Pro993Ser)not specified [RCV004662526]uncertain significance48675079686750796Humanname
407491419CV3468393single nucleotide variantNM_080683.3(PTPN13):c.1836G>T (p.Leu612Phe)not specified [RCV004666889]uncertain significance48673274486732744Humanname
407472554CV3468394single nucleotide variantNM_080683.3(PTPN13):c.1046T>G (p.Ile349Arg)not specified [RCV004662528]uncertain significance48670165286701652Humanname
407491427CV3468398single nucleotide variantNM_080683.3(PTPN13):c.2972C>T (p.Pro991Leu)not specified [RCV004666891]uncertain significance48675079186750791Humanname
597782071CV3585058single nucleotide variantNM_080683.3(PTPN13):c.1444C>T (p.Arg482Trp)not specified [RCV004853894]uncertain significance48672227086722270Humanname
597782084CV3585061single nucleotide variantNM_080683.3(PTPN13):c.1672C>T (p.Arg558Trp)not specified [RCV004853897]uncertain significance48673246386732463Humanname
597782100CV3585065single nucleotide variantNM_080683.3(PTPN13):c.2986G>A (p.Val996Ile)not specified [RCV004853901]likely benign48675080586750805Humanname
597782110CV3585067single nucleotide variantNM_080683.3(PTPN13):c.2093C>T (p.Thr698Ile)not specified [RCV004853903]uncertain significance48673481786734817Humanname
597782140CV3585074single nucleotide variantNM_080683.3(PTPN13):c.1453G>A (p.Glu485Lys)not specified [RCV004853910]uncertain significance48672227986722279Humanname
597782161CV3585079single nucleotide variantNM_080683.3(PTPN13):c.1856A>G (p.Lys619Arg)not specified [RCV004853915]uncertain significance48673276486732764Humanname
597782173CV3585082single nucleotide variantNM_080683.3(PTPN13):c.1639A>G (p.Thr547Ala)not specified [RCV004853918]uncertain significance48673243086732430Humanname
597782194CV3585087single nucleotide variantNM_080683.3(PTPN13):c.1882C>A (p.Pro628Thr)not specified [RCV004853923]uncertain significance48673432686734326Humanname
597782198CV3585088single nucleotide variantNM_080683.3(PTPN13):c.1054G>T (p.Asp352Tyr)not specified [RCV004853924]uncertain significance48670166086701660Humanname
597782202CV3585089single nucleotide variantNM_080683.3(PTPN13):c.1122A>G (p.Ile374Met)not specified [RCV004853925]uncertain significance48670172886701728Humanname
597782206CV3585090single nucleotide variantNM_080683.3(PTPN13):c.2648T>C (p.Ile883Thr)not specified [RCV004853926]uncertain significance48674512686745126Humanname
598181566CV3904847single nucleotide variantNM_080683.3(PTPN13):c.1999G>A (p.Val667Ile)not specified [RCV005265241]uncertain significance48673444386734443Humanname
598181577CV3904850single nucleotide variantNM_080683.3(PTPN13):c.2168A>C (p.Tyr723Ser)not specified [RCV005265244]uncertain significance48673561086735610Humanname
598181602CV3904857single nucleotide variantNM_080683.3(PTPN13):c.1105C>T (p.Pro369Ser)not specified [RCV005265251]uncertain significance48670171186701711Humanname
598176324CV4008107single nucleotide variantNM_080683.3(PTPN13):c.1097G>A (p.Arg366Gln)PTPN13-related disorder [RCV005393623]uncertain significance48670170386701703Humanname , trait
598176331CV4008108single nucleotide variantNM_080683.3(PTPN13):c.1261A>G (p.Ile421Val)PTPN13-related disorder [RCV005393624]likely benign48671659586716595Humanname , trait
598176335CV4008109single nucleotide variantNM_080683.3(PTPN13):c.1795G>T (p.Asp599Tyr)PTPN13-related disorder [RCV005393625]likely benign48673270386732703Humanname , trait
598176340CV4008110single nucleotide variantNM_080683.3(PTPN13):c.2389G>A (p.Val797Ile)PTPN13-related disorder [RCV005393626]uncertain significance48674171886741718Humanname , trait
598176343CV4008111single nucleotide variantNM_080683.3(PTPN13):c.2638G>T (p.Ala880Ser)PTPN13-related disorder [RCV005393627]uncertain significance48674511686745116Humanname , trait
15189683CV698666single nucleotide variantNM_080683.3(PTPN13):c.1499G>C (p.Arg500Pro)PTPN13-related disorder [RCV005392582]|not provided [RCV000954252]likely benign48672232586722325Humanname , trait
15152961CV709493single nucleotide variantNM_080683.3(PTPN13):c.2594A>G (p.His865Arg)PTPN13-related disorder [RCV005392595]|not provided [RCV000968455]likely benign|uncertain significance48674507286745072Humanname , trait
15145785CV734753single nucleotide variantNM_080683.3(PTPN13):c.1795G>C (p.Asp599His)not provided [RCV000900216]likely benign48673270386732703Humanname
126913622CV1037520single nucleotide variantNM_080683.3(PTPN13):c.3160G>A (p.Val1054Ile)not provided [RCV001357542]|not specified [RCV004034485]uncertain significance48675111886751118Humanname
126910968CV1037521single nucleotide variantNM_080683.3(PTPN13):c.3822G>T (p.Trp1274Cys)not provided [RCV001354858]likely benign48676299586762995Humanname
126911033CV1037522single nucleotide variantNM_080683.3(PTPN13):c.3953G>C (p.Arg1318Pro)not provided [RCV001354940]uncertain significance48676312686763126Humanname
126913976CV1037523single nucleotide variantNM_080683.3(PTPN13):c.5003C>A (p.Ala1668Glu)not provided [RCV001357859]uncertain significance48677137086771370Humanname
126911590CV1037524single nucleotide variantNM_080683.3(PTPN13):c.6614G>A (p.Arg2205Gln)not provided [RCV001355533]likely benign48680381786803817Humanname
126912699CV1037525single nucleotide variantNM_080683.3(PTPN13):c.7142C>T (p.Thr2381Ile)not provided [RCV001356736]likely benign48680982786809827Human1name
126912699CV1037525single nucleotide variantNM_080683.3(PTPN13):c.7142C>T (p.Thr2381Ile)not provided [RCV001356736]likely benign48680982786809828Human1name
126911406CV1037526single nucleotide variantNM_080683.3(PTPN13):c.7409G>A (p.Arg2470His)not provided [RCV001355313]|not specified [RCV005262430]uncertain significance48681450286814502Humanname
9687204CV171952single nucleotide variantNM_080683.2(PTPN13):c.4549C>T (p.Arg1517Ter)Malignant melanoma of skin [RCV000149692]not provided48676982886769828Humanname
9687465CV171953single nucleotide variantNM_080683.2(PTPN13):c.4559A>G (p.Asn1520Ser)Malignant melanoma of skin [RCV000149693]not provided48676983886769838Humanname
9687205CV171954single nucleotide variantNM_080683.2(PTPN13):c.4566A>G (p.Ile1522Met)Malignant melanoma of skin [RCV000149694]not provided48676984586769845Human4name
9687205CV171954single nucleotide variantNM_080683.2(PTPN13):c.4566A>G (p.Ile1522Met)Malignant melanoma of skin [RCV000149694]not provided48676984586769846Human4name
9687466CV171955single nucleotide variantNM_080683.2(PTPN13):c.5246C>T (p.Ser1749Leu)Malignant melanoma of skin [RCV000149695]not provided48677285586772855Humanname
156316515CV2193064single nucleotide variantNM_080683.3(PTPN13):c.5197G>A (p.Ala1733Thr)PTPN13-related disorder [RCV005399154]|not specified [RCV004069611]likely benign|uncertain significance48677280686772806Humanname , trait
156401493CV2207294single nucleotide variantNM_080683.3(PTPN13):c.4587C>G (p.Ser1529Arg)not specified [RCV004088009]uncertain significance48676986686769866Humanname
155922218CV2207439single nucleotide variantNM_080683.3(PTPN13):c.5009T>C (p.Ile1670Thr)not specified [RCV004089925]uncertain significance48677137686771376Humanname
156192410CV2223181single nucleotide variantNM_080683.3(PTPN13):c.3482T>C (p.Ile1161Thr)not specified [RCV004104023]uncertain significance48675900286759002Humanname
156339507CV2225097single nucleotide variantNM_080683.3(PTPN13):c.4433G>A (p.Gly1478Asp)not specified [RCV004094914]uncertain significance48676792086767920Humanname
156133145CV2235382single nucleotide variantNM_080683.3(PTPN13):c.5411C>T (p.Thr1804Ile)not specified [RCV004109444]uncertain significance48677443486774434Humanname
155975374CV2235863single nucleotide variantNM_080683.3(PTPN13):c.4805C>T (p.Thr1602Ile)not specified [RCV004111974]uncertain significance48677117286771172Humanname
155914223CV2242648single nucleotide variantNM_080683.3(PTPN13):c.7063A>G (p.Met2355Val)PTPN13-related disorder [RCV005399170]|not specified [RCV004113703]uncertain significance48680787786807877Humanname , trait
155924566CV2248817single nucleotide variantNM_080683.3(PTPN13):c.4865C>T (p.Ser1622Leu)not specified [RCV004121966]uncertain significance48677123286771232Humanname
156304103CV2255507single nucleotide variantNM_080683.3(PTPN13):c.4310C>G (p.Thr1437Arg)not specified [RCV004119941]uncertain significance48676649886766498Humanname
156000416CV2257746single nucleotide variantNM_080683.3(PTPN13):c.4248T>G (p.Asp1416Glu)not specified [RCV004127816]uncertain significance48676643686766436Humanname
155997840CV2260913single nucleotide variantNM_080683.3(PTPN13):c.6278A>G (p.Lys2093Arg)not specified [RCV004125802]uncertain significance48678586986785869Humanname
156249292CV2264086single nucleotide variantNM_080683.3(PTPN13):c.4039A>C (p.Thr1347Pro)not specified [RCV004138096]uncertain significance48676461486764614Humanname
156130534CV2279822single nucleotide variantNM_080683.3(PTPN13):c.6362G>T (p.Gly2121Val)not specified [RCV004144428]uncertain significance48679689086796890Humanname
156078221CV2281719single nucleotide variantNM_080683.3(PTPN13):c.4165A>C (p.Ser1389Arg)not specified [RCV004147867]uncertain significance48676541086765410Humanname
156283684CV2291839single nucleotide variantNM_080683.3(PTPN13):c.7277G>A (p.Gly2426Glu)not specified [RCV004158369]uncertain significance48680996286809962Humanname
156154140CV2303883single nucleotide variantNM_080683.3(PTPN13):c.5299T>C (p.Trp1767Arg)not specified [RCV004168167]uncertain significance48677290886772908Humanname
155912571CV2308899single nucleotide variantNM_080683.3(PTPN13):c.6476A>G (p.Glu2159Gly)not specified [RCV004169191]uncertain significance48679917586799175Humanname
156186325CV2324722single nucleotide variantNM_080683.3(PTPN13):c.3435A>G (p.Ile1145Met)not specified [RCV004172961]uncertain significance48675895586758955Humanname
156073017CV2325392single nucleotide variantNM_080683.3(PTPN13):c.3293A>C (p.Lys1098Thr)not specified [RCV004177760]uncertain significance48675832986758329Humanname
155930755CV2362311single nucleotide variantNM_080683.3(PTPN13):c.5303C>T (p.Thr1768Ile)not specified [RCV004212946]uncertain significance48677291286772912Humanname
156151844CV2369208single nucleotide variantNM_080683.3(PTPN13):c.5444A>G (p.His1815Arg)not specified [RCV004208127]uncertain significance48677446786774467Humanname
156384928CV2371648single nucleotide variantNM_080683.3(PTPN13):c.5326A>G (p.Asn1776Asp)not specified [RCV004216888]uncertain significance48677293586772935Humanname
156084861CV2390458single nucleotide variantNM_080683.3(PTPN13):c.5627T>C (p.Met1876Thr)not specified [RCV004239000]uncertain significance48677528986775289Humanname
156223297CV2394892single nucleotide variantNM_080683.3(PTPN13):c.7185G>A (p.Met2395Ile)not specified [RCV004234548]uncertain significance48680987086809870Humanname
329376828CV2428559single nucleotide variantNM_080683.3(PTPN13):c.4781C>T (p.Pro1594Leu)not specified [RCV004253343]uncertain significance48677017786770177Humanname
329375541CV2440981single nucleotide variantNM_080683.3(PTPN13):c.4030T>A (p.Ser1344Thr)not specified [RCV004261360]uncertain significance48676460586764605Humanname
329393357CV2449676single nucleotide variantNM_080683.3(PTPN13):c.3083C>T (p.Ala1028Val)not specified [RCV004268584]uncertain significance48675104186751041Humanname
329360589CV2458862single nucleotide variantNM_080683.3(PTPN13):c.4673A>G (p.Asn1558Ser)not specified [RCV004270276]uncertain significance48676995286769952Humanname
329362363CV2463844single nucleotide variantNM_080683.3(PTPN13):c.7066A>G (p.Thr2356Ala)not specified [RCV004279925]uncertain significance48680788086807880Humanname
401736175CV2672842single nucleotide variantNM_080683.3(PTPN13):c.4252G>A (p.Val1418Ile)not specified [RCV004281617]uncertain significance48676644086766440Humanname
401738498CV2676305single nucleotide variantNM_080683.3(PTPN13):c.5396T>C (p.Leu1799Pro)not specified [RCV004286340]uncertain significance48677441986774419Humanname
401752879CV2682967single nucleotide variantNM_080683.3(PTPN13):c.7054G>A (p.Val2352Met)not specified [RCV004283756]uncertain significance48680786886807868Humanname
401727119CV2684477single nucleotide variantNM_080683.3(PTPN13):c.6832G>A (p.Val2278Ile)not specified [RCV004291550]uncertain significance48680764686807646Humanname
401781887CV2689982single nucleotide variantNM_080683.3(PTPN13):c.6023C>T (p.Thr2008Met)not specified [RCV004299866]uncertain significance48678226186782261Humanname
401749231CV2694593single nucleotide variantNM_080683.3(PTPN13):c.4925A>C (p.Gln1642Pro)not specified [RCV004298713]uncertain significance48677129286771292Humanname
401718178CV2700203single nucleotide variantNM_080683.3(PTPN13):c.6491A>G (p.Glu2164Gly)not specified [RCV004309059]uncertain significance48679919086799190Humanname
401735490CV2702788single nucleotide variantNM_080683.3(PTPN13):c.7451T>C (p.Leu2484Pro)not specified [RCV004319355]uncertain significance48681454486814544Humanname
401772971CV2709051single nucleotide variantNM_080683.3(PTPN13):c.4518A>T (p.Lys1506Asn)not specified [RCV004314396]uncertain significance48676979786769797Humanname
401761806CV2713903single nucleotide variantNM_080683.3(PTPN13):c.3665G>C (p.Arg1222Pro)not specified [RCV004315335]uncertain significance48676283886762838Humanname
401765600CV2717775single nucleotide variantNM_080683.3(PTPN13):c.5008A>G (p.Ile1670Val)not specified [RCV004321760]uncertain significance48677137586771375Humanname
401772912CV2720407single nucleotide variantNM_080683.3(PTPN13):c.6664G>A (p.Glu2222Lys)not specified [RCV004325710]uncertain significance48680528886805288Humanname
401767488CV2729697single nucleotide variantNM_080683.3(PTPN13):c.3787G>A (p.Gly1263Ser)not specified [RCV004331954]uncertain significance48676296086762960Humanname
401877643CV2761242single nucleotide variantNM_080683.3(PTPN13):c.6087A>G (p.Ile2029Met)not specified [RCV004341119]likely benign48678452786784527Humanname
401877216CV2764543single nucleotide variantNM_080683.3(PTPN13):c.6872G>A (p.Gly2291Glu)not specified [RCV004339098]uncertain significance48680768686807686Humanname
401895807CV2775699single nucleotide variantNM_080683.3(PTPN13):c.4027T>C (p.Ser1343Pro)not specified [RCV004350832]uncertain significance48676460286764602Humanname
401872013CV2775818single nucleotide variantNM_080683.3(PTPN13):c.3878A>G (p.Lys1293Arg)not specified [RCV004344857]uncertain significance48676305186763051Humanname
401878188CV2777797single nucleotide variantNM_080683.3(PTPN13):c.3225T>G (p.Asp1075Glu)not specified [RCV004345625]uncertain significance48675826186758261Humanname
401879071CV2778137single nucleotide variantNM_080683.3(PTPN13):c.4361C>T (p.Ser1454Phe)not specified [RCV004348076]uncertain significance48676784886767848Humanname
401877612CV2779883single nucleotide variantNM_080683.3(PTPN13):c.4189G>C (p.Val1397Leu)not specified [RCV004353498]uncertain significance48676543486765434Humanname
405688919CV3318327single nucleotide variantNM_080683.3(PTPN13):c.3342G>A (p.Met1114Ile)not specified [RCV004444960]uncertain significance48675870686758706Humanname
405688925CV3318328single nucleotide variantNM_080683.3(PTPN13):c.3419C>T (p.Pro1140Leu)not specified [RCV004444961]uncertain significance48675878386758783Humanname
405688930CV3318329single nucleotide variantNM_080683.3(PTPN13):c.3565C>T (p.Pro1189Ser)not specified [RCV004444962]uncertain significance48676273886762738Humanname
405688934CV3318330single nucleotide variantNM_080683.3(PTPN13):c.3811G>A (p.Asp1271Asn)not specified [RCV004444963]uncertain significance48676298486762984Humanname
405688938CV3318331single nucleotide variantNM_080683.3(PTPN13):c.4169T>G (p.Val1390Gly)not specified [RCV004444964]uncertain significance48676541486765414Humanname
405688942CV3318332single nucleotide variantNM_080683.3(PTPN13):c.4285G>C (p.Ala1429Pro)not specified [RCV004444965]uncertain significance48676647386766473Humanname
405688953CV3318334single nucleotide variantNM_080683.3(PTPN13):c.4462G>A (p.Val1488Ile)not specified [RCV004444967]uncertain significance48676794986767949Humanname
405688958CV3318335single nucleotide variantNM_080683.3(PTPN13):c.4631A>C (p.Glu1544Ala)not specified [RCV004444968]uncertain significance48676991086769910Humanname
405688968CV3318337single nucleotide variantNM_080683.3(PTPN13):c.5239T>G (p.Ser1747Ala)not specified [RCV004444970]uncertain significance48677284886772848Humanname
405688971CV3318338single nucleotide variantNM_080683.3(PTPN13):c.5240C>G (p.Ser1747Cys)not specified [RCV004444971]uncertain significance48677284986772849Humanname
405688976CV3318339single nucleotide variantNM_080683.3(PTPN13):c.5375T>C (p.Ile1792Thr)not specified [RCV004444972]uncertain significance48677439886774398Humanname
405688981CV3318340single nucleotide variantNM_080683.3(PTPN13):c.5431G>T (p.Gly1811Cys)not specified [RCV004444973]uncertain significance48677445486774454Humanname
405688986CV3318341single nucleotide variantNM_080683.3(PTPN13):c.5528C>T (p.Thr1843Ile)not specified [RCV004444974]uncertain significance48677519086775190Humanname
405688998CV3318344single nucleotide variantNM_080683.3(PTPN13):c.5752G>A (p.Val1918Ile)not specified [RCV004444977]likely benign48677551386775513Humanname
405689009CV3318346single nucleotide variantNM_080683.3(PTPN13):c.6120A>C (p.Glu2040Asp)not specified [RCV004444979]uncertain significance48678523286785232Humanname
405689014CV3318347single nucleotide variantNM_080683.3(PTPN13):c.6155C>G (p.Ser2052Cys)not specified [RCV004444980]uncertain significance48678526786785267Humanname
405689017CV3318348single nucleotide variantNM_080683.3(PTPN13):c.6352A>G (p.Lys2118Glu)not specified [RCV004444981]uncertain significance48679688086796880Humanname
405689022CV3318349single nucleotide variantNM_080683.3(PTPN13):c.6365G>A (p.Cys2122Tyr)not specified [RCV004444982]uncertain significance48679689386796893Humanname
405689026CV3318350single nucleotide variantNM_080683.3(PTPN13):c.6479G>C (p.Arg2160Thr)not specified [RCV004444983]likely benign48679917886799178Humanname
405689031CV3318351single nucleotide variantNM_080683.3(PTPN13):c.6541C>G (p.Leu2181Val)not specified [RCV004444984]uncertain significance48680374486803744Humanname
405689037CV3318352single nucleotide variantNM_080683.3(PTPN13):c.6628C>A (p.Gln2210Lys)not specified [RCV004444985]uncertain significance48680383186803831Humanname
405689040CV3318353single nucleotide variantNM_080683.3(PTPN13):c.6907A>G (p.Thr2303Ala)not specified [RCV004444986]uncertain significance48680772186807721Humanname
405689046CV3318354single nucleotide variantNM_080683.3(PTPN13):c.6991A>G (p.Thr2331Ala)not specified [RCV004444987]uncertain significance48680780586807805Humanname
405689051CV3318355single nucleotide variantNM_080683.3(PTPN13):c.7136A>G (p.His2379Arg)not specified [RCV004444988]uncertain significance48680982186809821Humanname
405689057CV3318356single nucleotide variantNM_080683.3(PTPN13):c.7168A>G (p.Thr2390Ala)not specified [RCV004444989]uncertain significance48680985386809853Humanname
405689061CV3318357single nucleotide variantNM_080683.3(PTPN13):c.7240C>T (p.Arg2414Cys)not specified [RCV004444990]uncertain significance48680992586809925Humanname
405689066CV3318358single nucleotide variantNM_080683.3(PTPN13):c.7396T>G (p.Tyr2466Asp)not specified [RCV004444991]uncertain significance48681448986814489Humanname
405869654CV3397883single nucleotide variantNM_080683.3(PTPN13):c.4184T>G (p.Ile1395Ser)Meniere disease [RCV004573526]uncertain significance48676542986765429Human1name
405869655CV3397884single nucleotide variantNM_080683.3(PTPN13):c.7360G>A (p.Glu2454Lys)Meniere disease [RCV004573527]uncertain significance48681110686811106Human1name
407472487CV3468375single nucleotide variantNM_080683.3(PTPN13):c.6635T>C (p.Ile2212Thr)not specified [RCV004662513]uncertain significance48680383886803838Humanname
407472492CV3468376single nucleotide variantNM_080683.3(PTPN13):c.4309A>G (p.Thr1437Ala)not specified [RCV004662514]uncertain significance48676649786766497Humanname
407491410CV3468380single nucleotide variantNM_080683.3(PTPN13):c.6188A>G (p.Asp2063Gly)not specified [RCV004666887]uncertain significance48678530086785300Humanname
407472508CV3468381single nucleotide variantNM_080683.3(PTPN13):c.5435G>A (p.Cys1812Tyr)not specified [RCV004662517]uncertain significance48677445886774458Humanname
407472513CV3468382single nucleotide variantNM_080683.3(PTPN13):c.3344G>A (p.Gly1115Glu)not specified [RCV004662518]uncertain significance48675870886758708Humanname
407472518CV3468383single nucleotide variantNM_080683.3(PTPN13):c.6116A>G (p.Lys2039Arg)not specified [RCV004662519]uncertain significance48678455686784556Humanname
407472525CV3468385single nucleotide variantNM_080683.3(PTPN13):c.5379A>C (p.Lys1793Asn)not specified [RCV004662521]uncertain significance48677440286774402Humanname
407472529CV3468386single nucleotide variantNM_080683.3(PTPN13):c.3788G>A (p.Gly1263Asp)not specified [RCV004662522]uncertain significance48676296186762961Humanname
407472533CV3468387single nucleotide variantNM_080683.3(PTPN13):c.6052T>A (p.Ser2018Thr)not specified [RCV004662523]uncertain significance48678449286784492Humanname
407472538CV3468388single nucleotide variantNM_080683.3(PTPN13):c.5732G>C (p.Ser1911Thr)not specified [RCV004662524]uncertain significance48677549386775493Humanname
407472550CV3468392single nucleotide variantNM_080683.3(PTPN13):c.4268G>A (p.Gly1423Glu)not specified [RCV004662527]uncertain significance48676645686766456Humanname
407472559CV3468395single nucleotide variantNM_080683.3(PTPN13):c.5636A>G (p.His1879Arg)not specified [RCV004662529]uncertain significance48677529886775298Humanname
407472563CV3468396single nucleotide variantNM_080683.3(PTPN13):c.3331G>A (p.Gly1111Arg)not specified [RCV004662530]uncertain significance48675869586758695Humanname
407491423CV3468397single nucleotide variantNM_080683.3(PTPN13):c.6713G>C (p.Arg2238Thr)not specified [RCV004666890]uncertain significance48680533786805337Humanname
408368189CV3518116single nucleotide variantNM_080683.3(PTPN13):c.4843A>C (p.Ser1615Arg)Congenital long QT syndrome [RCV004733998]uncertain significance48677121086771210Human1name
597782076CV3585059single nucleotide variantNM_080683.3(PTPN13):c.5267A>G (p.His1756Arg)not specified [RCV004853895]uncertain significance48677287686772876Humanname
597782080CV3585060single nucleotide variantNM_080683.3(PTPN13):c.6946A>G (p.Lys2316Glu)not specified [RCV004853896]uncertain significance48680776086807760Humanname
597782088CV3585062single nucleotide variantNM_080683.3(PTPN13):c.5189C>T (p.Pro1730Leu)not specified [RCV004853898]likely benign48677279886772798Humanname
597782092CV3585063single nucleotide variantNM_080683.3(PTPN13):c.6362G>C (p.Gly2121Ala)not specified [RCV004853899]uncertain significance48679689086796890Humanname
597782096CV3585064single nucleotide variantNM_080683.3(PTPN13):c.3653A>T (p.His1218Leu)not specified [RCV004853900]uncertain significance48676282686762826Humanname
597782114CV3585068single nucleotide variantNM_080683.3(PTPN13):c.5534T>G (p.Met1845Arg)not specified [RCV004853904]uncertain significance48677519686775196Humanname
597782118CV3585069single nucleotide variantNM_080683.3(PTPN13):c.6257G>A (p.Gly2086Asp)not specified [RCV004853905]uncertain significance48678584886785848Humanname
597782130CV3585072single nucleotide variantNM_080683.3(PTPN13):c.3394G>A (p.Ala1132Thr)not specified [RCV004853908]uncertain significance48675875886758758Humanname
597782136CV3585073single nucleotide variantNM_080683.3(PTPN13):c.5329C>A (p.His1777Asn)not specified [RCV004853909]uncertain significance48677293886772938Humanname
597782148CV3585076single nucleotide variantNM_080683.3(PTPN13):c.3988A>G (p.Ser1330Gly)not specified [RCV004853912]uncertain significance48676316186763161Humanname
597782152CV3585077single nucleotide variantNM_080683.3(PTPN13):c.5899C>G (p.Leu1967Val)not specified [RCV004853913]uncertain significance48678040986780409Humanname
597782156CV3585078single nucleotide variantNM_080683.3(PTPN13):c.6625G>A (p.Asp2209Asn)not specified [RCV004853914]uncertain significance48680382886803828Humanname
597782165CV3585080single nucleotide variantNM_080683.3(PTPN13):c.6605G>A (p.Arg2202Gln)not specified [RCV004853916]uncertain significance48680380886803808Humanname
597782169CV3585081single nucleotide variantNM_080683.3(PTPN13):c.3218A>C (p.Glu1073Ala)not specified [RCV004853917]uncertain significance48675306086753060Humanname
597782177CV3585083single nucleotide variantNM_080683.3(PTPN13):c.6680A>C (p.Asp2227Ala)not specified [RCV004853919]uncertain significance48680530486805304Humanname
597782181CV3585084single nucleotide variantNM_080683.3(PTPN13):c.7312G>A (p.Asp2438Asn)not specified [RCV004853920]uncertain significance48681105886811058Humanname
597782186CV3585085single nucleotide variantNM_080683.3(PTPN13):c.5960A>G (p.Asn1987Ser)not specified [RCV004853921]uncertain significance48678047086780470Humanname
598181520CV3904838single nucleotide variantNM_080683.3(PTPN13):c.4142G>A (p.Ser1381Asn)not specified [RCV005265232]uncertain significance48676471786764717Humanname
598181526CV3904839single nucleotide variantNM_080683.3(PTPN13):c.3145C>T (p.Pro1049Ser)not specified [RCV005265233]uncertain significance48675110386751103Humanname
598181532CV3904840single nucleotide variantNM_080683.3(PTPN13):c.3363A>G (p.Ile1121Met)not specified [RCV005265234]uncertain significance48675872786758727Humanname
598181542CV3904842single nucleotide variantNM_080683.3(PTPN13):c.4796C>T (p.Ala1599Val)not specified [RCV005265236]uncertain significance48677019286770192Humanname
598181546CV3904843single nucleotide variantNM_080683.3(PTPN13):c.4331T>C (p.Val1444Ala)not specified [RCV005265237]uncertain significance48676781886767818Humanname
598181553CV3904844single nucleotide variantNM_080683.3(PTPN13):c.7235T>C (p.Ile2412Thr)not specified [RCV005265238]uncertain significance48680992086809920Humanname
598181558CV3904845single nucleotide variantNM_080683.3(PTPN13):c.5639T>C (p.Leu1880Ser)not specified [RCV005265239]uncertain significance48677530186775301Humanname
598181569CV3904848single nucleotide variantNM_080683.3(PTPN13):c.3275C>T (p.Thr1092Ile)not specified [RCV005265242]uncertain significance48675831186758311Humanname
598181573CV3904849single nucleotide variantNM_080683.3(PTPN13):c.7411C>T (p.Leu2471Phe)not specified [RCV005265243]uncertain significance48681450486814504Humanname
598181590CV3904854single nucleotide variantNM_080683.3(PTPN13):c.5402T>C (p.Phe1801Ser)not specified [RCV005265248]uncertain significance48677442586774425Humanname
598181595CV3904855single nucleotide variantNM_080683.3(PTPN13):c.6298G>C (p.Glu2100Gln)not specified [RCV005265249]uncertain significance48678588986785889Humanname
598181599CV3904856single nucleotide variantNM_080683.3(PTPN13):c.3701G>T (p.Gly1234Val)not specified [RCV005265250]uncertain significance48676287486762874Humanname
598181610CV3904859single nucleotide variantNM_080683.3(PTPN13):c.4864T>C (p.Ser1622Pro)not specified [RCV005265253]uncertain significance48677123186771231Humanname
598181614CV3904860single nucleotide variantNM_080683.3(PTPN13):c.5488C>T (p.Pro1830Ser)not specified [RCV005265254]uncertain significance48677451186774511Humanname
598181618CV3904861single nucleotide variantNM_080683.3(PTPN13):c.6365G>T (p.Cys2122Phe)not specified [RCV005265255]uncertain significance48679689386796893Humanname
598176355CV4008113single nucleotide variantNM_080683.3(PTPN13):c.3563C>T (p.Thr1188Ile)PTPN13-related disorder [RCV005393629]uncertain significance48676273686762736Humanname , trait
598176360CV4008114single nucleotide variantNM_080683.3(PTPN13):c.3586A>G (p.Met1196Val)PTPN13-related disorder [RCV005393630]uncertain significance48676275986762759Humanname , trait
598176366CV4008115single nucleotide variantNM_080683.3(PTPN13):c.3785A>G (p.Asn1262Ser)PTPN13-related disorder [RCV005393631]uncertain significance48676295886762958Humanname , trait
598176369CV4008116single nucleotide variantNM_080683.3(PTPN13):c.3808G>A (p.Gly1270Ser)PTPN13-related disorder [RCV005393632]uncertain significance48676298186762981Humanname , trait
598176374CV4008117single nucleotide variantNM_080683.3(PTPN13):c.5866C>T (p.Pro1956Ser)PTPN13-related disorder [RCV005393633]uncertain significance48677562786775627Humanname , trait
15152969CV709494single nucleotide variantNM_080683.3(PTPN13):c.3124G>T (p.Asp1042Tyr)not provided [RCV000968456]benign48675108286751082Humanname
15111140CV709495single nucleotide variantNM_080683.3(PTPN13):c.3188G>A (p.Gly1063Glu)not provided [RCV000961044]benign48675303086753030Humanname
15176169CV721101single nucleotide variantNM_080683.3(PTPN13):c.5230T>C (p.Ser1744Pro)not provided [RCV000884526]benign48677283986772839Humanname
8631312CV86473single nucleotide variantNM_080685.2(PTPN13):c.7400A>T (p.Gln2467Leu)Malignant melanoma [RCV000066564]|Malignant melanoma of skin [RCV000149696]not provided48681447886814478Humanname