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


34 records found for search term Banf1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11662208CV321335single nucleotide variantNM_003860.4(BANF1):c.-62A>GNestor-Guillermo progeria syndrome [RCV000384007]uncertain significance116600252566002525Human1name
11621625CV327486single nucleotide variantNM_003860.4(BANF1):c.-70T>GNestor-Guillermo progeria syndrome [RCV000350471]uncertain significance116600251766002517Human1name
11657812CV328523single nucleotide variantNM_003860.4(BANF1):c.*64T>ANestor-Guillermo progeria syndrome [RCV000344282]uncertain significance116600383666003836Human1name
28907919CV868672single nucleotide variantNM_003860.4(BANF1):c.-60C>TNestor-Guillermo progeria syndrome [RCV001107493]uncertain significance116600252766002527Human1name
11607430CV314653single nucleotide variantNM_003860.4(BANF1):c.*177G>ANestor-Guillermo progeria syndrome [RCV000343190]|not provided [RCV004718482]benign|uncertain significance116600394966003949Human1name
11603818CV314658single nucleotide variantNM_003860.4(BANF1):c.*273C>GNestor-Guillermo progeria syndrome [RCV000303532]|not provided [RCV004705227]likely benign|uncertain significance116600404566004045Human1name
11603912CV321336single nucleotide variantNM_003860.4(BANF1):c.*128C>ANestor-Guillermo progeria syndrome [RCV000304578]|not provided [RCV004718481]benign|uncertain significance116600390066003900Human1name
11663292CV321341single nucleotide variantNM_003860.4(BANF1):c.*209T>GNestor-Guillermo progeria syndrome [RCV000394318]uncertain significance116600398166003981Human1name
11664124CV328529single nucleotide variantNM_003860.4(BANF1):c.*120T>ANestor-Guillermo progeria syndrome [RCV000402630]uncertain significance116600389266003892Human1name
28900495CV868287single nucleotide variantNM_003860.4(BANF1):c.*100C>TNestor-Guillermo progeria syndrome [RCV001103861]likely benign116600387266003872Human1name
28900498CV868288single nucleotide variantNM_003860.4(BANF1):c.*143T>ANestor-Guillermo progeria syndrome [RCV001103862]uncertain significance116600391566003915Human1name
28900499CV868289single nucleotide variantNM_003860.4(BANF1):c.*182T>CNestor-Guillermo progeria syndrome [RCV001103863]uncertain significance116600395466003954Human1name
150497403CV1256701single nucleotide variantNM_003860.4(BANF1):c.-16-48A>Gnot provided [RCV001676193]benign116600318766003187Humanname
11662841CV314647single nucleotide variantNM_001143985.1(BANF1):c.-86G>ANestor-Guillermo progeria syndrome [RCV000389669]uncertain significance116600244466002444Human1name
11650522CV321330single nucleotide variantNM_001143985.1(BANF1):c.-35A>TNestor-Guillermo progeria syndrome [RCV000293232]uncertain significance116600249566002495Human1name
150451030CV1232747single nucleotide variantNM_003860.4(BANF1):c.123+109G>Anot provided [RCV001647822]benign116600348266003482Humanname
150452698CV1254998single nucleotide variantNM_003860.4(BANF1):c.-16-303T>Cnot provided [RCV001668057]benign116600293266002932Humanname
150473367CV1262891single nucleotide variantNM_003860.4(BANF1):c.-16-293G>Anot provided [RCV001684707]benign116600294266002942Humanname
150510109CV1286681single nucleotide variantNM_003860.4(BANF1):c.-16-161G>Anot provided [RCV001720916]benign116600307466003074Humanname
11652653CV314624single nucleotide variantNM_001143985.1(BANF1):c.-440A>GNestor-Guillermo progeria syndrome [RCV000306436]uncertain significance116600209066002090Human1name
11608593CV314629single nucleotide variantNM_001143985.1(BANF1):c.-408C>TNestor-Guillermo progeria syndrome [RCV000357516]likely benign|uncertain significance116600212266002122Human1name
11605490CV314633single nucleotide variantNM_001143985.1(BANF1):c.-254G>TNestor-Guillermo progeria syndrome [RCV000320141]likely benign116600227666002276Human1name
11609775CV314635single nucleotide variantNM_001143985.1(BANF1):c.-230C>TNestor-Guillermo progeria syndrome [RCV000372439]uncertain significance116600230066002300Human1name
11606584CV314640single nucleotide variantNM_001143985.1(BANF1):c.-192G>CNestor-Guillermo progeria syndrome [RCV000333092]|not provided [RCV004718480]benign116600233866002338Human1name
11645639CV321328single nucleotide variantNM_001143985.1(BANF1):c.-421G>ANestor-Guillermo progeria syndrome [RCV000266406]uncertain significance116600210966002109Human1name
11613061CV327481single nucleotide variantNM_001143985.1(BANF1):c.-297G>ANestor-Guillermo progeria syndrome [RCV000265206]likely benign|uncertain significance116600223366002233Human1name
11612696CV327485single nucleotide variantNM_001143985.1(BANF1):c.-221T>GNestor-Guillermo progeria syndrome [RCV000261504]|not provided [RCV004718479]benign116600230966002309Human1name
11660006CV328520single nucleotide variantNM_001143985.1(BANF1):c.-429G>CNestor-Guillermo progeria syndrome [RCV000363414]uncertain significance116600210166002101Human1name
28907916CV868286single nucleotide variantNM_001143985.1(BANF1):c.-105G>ANestor-Guillermo progeria syndrome [RCV001107492]uncertain significance116600242566002425Human1name
11602535CV314650single nucleotide variantNM_003860.4(BANF1):c.9C>T (p.Thr3=)Nestor-Guillermo progeria syndrome [RCV000291630]uncertain significance116600325966003259Human1name
11603975CV314628duplicationNM_001143985.1(BANF1):c.-415_-414dupNestor-Guillermo progeria syndrome [RCV000305201]uncertain significance116600211366002114Human1name
150493794CV1257628microsatelliteNM_003860.4(BANF1):c.124-37_124-31delnot provided [RCV001675301]benign116600358066003586Humanname
15177617CV713049single nucleotide variantNM_003860.4(BANF1):c.204C>T (p.Gly68=)Nestor-Guillermo progeria syndrome [RCV001107494]|not provided [RCV000973472]benign116600370666003706Human1name
8568316CV39347single nucleotide variantNM_003860.4(BANF1):c.34G>A (p.Ala12Thr)Nestor-Guillermo progeria syndrome [RCV000023343]pathogenic116600328466003284Human1name