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62 records found for search term Ptbp1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150532016CV1291779single nucleotide variantNM_002819.5(PTBP1):c.8+12G>Cnot provided [RCV001733489]benign19797517797517Humanname
15148788CV745306single nucleotide variantNM_002819.5(PTBP1):c.435+4C>Tnot provided [RCV000900794]likely benign19804442804442Humanname
15203462CV760642single nucleotide variantNM_002819.5(PTBP1):c.718-7C>Tnot provided [RCV000914019]likely benign19805006805006Humanname
15181466CV780204single nucleotide variantNM_002819.5(PTBP1):c.1119+3A>Gnot provided [RCV000974399]benign|likely benign19806559806559Humanname
150407872CV1200086single nucleotide variantNM_002819.5(PTBP1):c.1A>G (p.Met1Val)not provided [RCV001579946]uncertain significance19797498797498Humanname
25319118CV816530single nucleotide variantNM_002819.5(PTBP1):c.2T>C (p.Met1Thr)not provided [RCV001028100]uncertain significance19797499797499Humanname
15167143CV716775single nucleotide variantNM_002819.5(PTBP1):c.264C>T (p.Leu88=)not provided [RCV000971337]benign|likely benign19804184804184Humanname
156183487CV2327971single nucleotide variantNM_002819.5(PTBP1):c.82C>T (p.Pro28Ser)not specified [RCV004179286]uncertain significance19803603803603Humanname
329397092CV2459907single nucleotide variantNM_002819.5(PTBP1):c.88A>G (p.Ile30Val)not specified [RCV004279399]uncertain significance19803609803609Humanname
405672417CV3377600single nucleotide variantNM_002819.5(PTBP1):c.909C>T (p.Ile303=)not specified [RCV004515460]likely benign19805508805508Humanname
407491129CV3471993single nucleotide variantNM_002819.5(PTBP1):c.90C>G (p.Ile30Met)not specified [RCV004666797]uncertain significance19803611803611Humanname
598171266CV3908273single nucleotide variantNM_002819.5(PTBP1):c.885G>A (p.Ala295=)not specified [RCV005263310]likely benign19805180805180Humanname
15184687CV705350single nucleotide variantNM_002819.5(PTBP1):c.699C>T (p.Ser233=)not provided [RCV000952770]benign19804921804921Humanname
15103075CV757349single nucleotide variantNM_002819.5(PTBP1):c.363G>A (p.Leu121=)not provided [RCV000915093]likely benign19804366804366Humanname
15098102CV757350single nucleotide variantNM_002819.5(PTBP1):c.510C>T (p.Ala170=)not provided [RCV000914166]likely benign19804606804606Humanname
15196522CV772983single nucleotide variantNM_002819.5(PTBP1):c.564G>A (p.Val188=)not provided [RCV000934242]likely benign19804660804660Humanname
15109228CV772984single nucleotide variantNM_002819.5(PTBP1):c.756G>T (p.Thr252=)not provided [RCV000938304]likely benign19805051805051Humanname
15177910CV778562deletionNM_002819.5(PTBP1):c.1463+20_1463+36delnot provided [RCV000951150]benign19808772808788Humanname
401906781CV2815034single nucleotide variantNM_002819.5(PTBP1):c.1209C>T (p.Ala403=)not provided [RCV003421691]likely benign19808415808415Humanname
405672413CV3377599single nucleotide variantNM_002819.5(PTBP1):c.175A>G (p.Arg59Gly)not specified [RCV004515459]uncertain significance19804095804095Humanname
407491126CV3471992single nucleotide variantNM_002819.5(PTBP1):c.104C>T (p.Ser35Leu)not specified [RCV004666796]uncertain significance19803625803625Humanname
597750653CV3592226single nucleotide variantNM_002819.5(PTBP1):c.295A>G (p.Ile99Val)not specified [RCV004846507]uncertain significance19804298804298Humanname
597750665CV3592229single nucleotide variantNM_002819.5(PTBP1):c.167T>A (p.Val56Asp)not specified [RCV004846510]uncertain significance19804087804087Humanname
598171253CV3908270single nucleotide variantNM_002819.5(PTBP1):c.166G>A (p.Val56Ile)not specified [RCV005263307]uncertain significance19804086804086Humanname
598171279CV3908276single nucleotide variantNM_002819.5(PTBP1):c.141C>G (p.Phe47Leu)not specified [RCV005263313]uncertain significance19804061804061Humanname
15136188CV716778single nucleotide variantNM_002819.5(PTBP1):c.1332C>T (p.Arg444=)not provided [RCV000965411]benign19808631808631Humanname
15119641CV716779single nucleotide variantNM_002819.5(PTBP1):c.1380C>T (p.Pro460=)not provided [RCV000962584]benign19808679808679Humanname
15198537CV728509single nucleotide variantNM_002819.5(PTBP1):c.1374C>T (p.Asn458=)not provided [RCV000890385]benign19808673808673Humanname
15173310CV742218single nucleotide variantNM_002819.5(PTBP1):c.1032G>A (p.Ala344=)not provided [RCV000905837]benign19806469806469Humanname
15173316CV742223single nucleotide variantNM_002819.5(PTBP1):c.1167C>T (p.Asp389=)not provided [RCV000905838]benign19808373808373Humanname
15117824CV742225single nucleotide variantNM_002819.5(PTBP1):c.1368C>T (p.Tyr456=)not provided [RCV000895443]likely benign19808667808667Humanname
15119425CV757352single nucleotide variantNM_002819.5(PTBP1):c.1602C>T (p.Leu534=)not provided [RCV000918142]likely benign19810754810754Humanname
8628440CV83584single nucleotide variantNM_002819.4(PTBP1):c.1416C>T (p.Phe472=)Malignant melanoma [RCV000063665]not provided19808715808715Humanname
155994758CV2253726single nucleotide variantNM_002819.5(PTBP1):c.694G>C (p.Val232Leu)not specified [RCV004127175]uncertain significance19804916804916Humanname
155963482CV2254563single nucleotide variantNM_002819.5(PTBP1):c.994G>A (p.Gly332Ser)not specified [RCV004123913]uncertain significance19806431806431Humanname
156182944CV2255292single nucleotide variantNM_002819.5(PTBP1):c.835G>A (p.Asp279Asn)not specified [RCV004117673]uncertain significance19805130805130Humanname
155918590CV2279256single nucleotide variantNM_002819.5(PTBP1):c.446C>T (p.Ala149Val)not specified [RCV004139778]uncertain significance19804542804542Humanname
155923026CV2280200single nucleotide variantNM_002819.5(PTBP1):c.525G>A (p.Met175Ile)not specified [RCV004140422]uncertain significance19804621804621Humanname
156208373CV2308142single nucleotide variantNM_002819.5(PTBP1):c.464A>G (p.Asn155Ser)not specified [RCV004164380]uncertain significance19804560804560Humanname
156395258CV2325355single nucleotide variantNM_002819.5(PTBP1):c.785G>C (p.Ser262Thr)not specified [RCV004177734]uncertain significance19805080805080Humanname
156171339CV2380693single nucleotide variantNM_002819.5(PTBP1):c.997G>A (p.Ala333Thr)not specified [RCV004218273]uncertain significance19806434806434Humanname
329380766CV2464346single nucleotide variantNM_002819.5(PTBP1):c.845C>T (p.Ser282Phe)not specified [RCV004276296]uncertain significance19805140805140Humanname
401743042CV2677749single nucleotide variantNM_002819.5(PTBP1):c.506C>T (p.Ala169Val)not specified [RCV004291824]uncertain significance19804602804602Humanname
401731823CV2690153single nucleotide variantNM_002819.5(PTBP1):c.512T>C (p.Val171Ala)not specified [RCV004302171]uncertain significance19804608804608Humanname
401896841CV2788838single nucleotide variantNM_002819.5(PTBP1):c.761G>T (p.Arg254Leu)not specified [RCV004361292]uncertain significance19805056805056Humanname
407531844CV3471991single nucleotide variantNM_002819.5(PTBP1):c.505G>C (p.Ala169Pro)not specified [RCV004657813]uncertain significance19804601804601Humanname
597750656CV3592227single nucleotide variantNM_002819.5(PTBP1):c.694G>A (p.Val232Met)not specified [RCV004846508]uncertain significance19804916804916Humanname
597750675CV3592231single nucleotide variantNM_002819.5(PTBP1):c.940C>T (p.Pro314Ser)not specified [RCV004846512]uncertain significance19805539805539Humanname
597750679CV3592232single nucleotide variantNM_002819.5(PTBP1):c.458C>T (p.Ala153Val)not specified [RCV004846513]uncertain significance19804554804554Humanname
597750684CV3592233single nucleotide variantNM_002819.5(PTBP1):c.920C>T (p.Pro307Leu)not specified [RCV004846514]uncertain significance19805519805519Humanname
598171270CV3908274single nucleotide variantNM_002819.5(PTBP1):c.308C>T (p.Thr103Met)not specified [RCV005263311]uncertain significance19804311804311Humanname
15112431CV728499single nucleotide variantNM_002819.5(PTBP1):c.517G>A (p.Ala173Thr)not provided [RCV000894468]likely benign19804613804613Humanname
156045667CV2315542single nucleotide variantNM_002819.5(PTBP1):c.1054A>G (p.Ile352Val)not specified [RCV004169588]uncertain significance19806491806491Humanname
401768116CV2678233single nucleotide variantNM_002819.5(PTBP1):c.1373A>G (p.Asn458Ser)not specified [RCV004289827]uncertain significance19808672808672Humanname
405672408CV3378706single nucleotide variantNM_002819.5(PTBP1):c.1402G>A (p.Gly468Ser)not specified [RCV004515458]uncertain significance19808701808701Humanname
407491132CV3471994single nucleotide variantNM_002819.5(PTBP1):c.1586A>C (p.Glu529Ala)not specified [RCV004666798]uncertain significance19810738810738Humanname
597750670CV3592230single nucleotide variantNM_002819.5(PTBP1):c.1627G>C (p.Gly543Arg)not specified [RCV004846511]uncertain significance19810779810779Humanname
598171249CV3908269single nucleotide variantNM_002819.5(PTBP1):c.1504A>G (p.Ser502Gly)not specified [RCV005263306]uncertain significance19810583810583Humanname
598171258CV3908271single nucleotide variantNM_002819.5(PTBP1):c.1369G>A (p.Gly457Ser)not specified [RCV005263308]uncertain significance19808668808668Humanname
598171262CV3908272single nucleotide variantNM_002819.5(PTBP1):c.1078G>T (p.Ala360Ser)not specified [RCV005263309]uncertain significance19806515806515Humanname
598171275CV3908275single nucleotide variantNM_002819.5(PTBP1):c.1519G>C (p.Val507Leu)not specified [RCV005263312]uncertain significance19810598810598Humanname
15177356CV742230single nucleotide variantNM_002819.5(PTBP1):c.1519G>A (p.Val507Ile)not provided [RCV000906631]likely benign19810598810598Humanname