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


7 records found for search term Ccdc32
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401916273CV2817417single nucleotide variantNM_001080792.4(CCDC32):c.-13+210T>Cnot provided [RCV003400865]likely benign154056476640564766Humanname
40904012CV976533duplicationNM_001080792.4(CCDC32):c.27dup (p.Thr10fs)Cardiofacioneurodevelopmental syndrome [RCV001270247]pathogenic154056298840562989Human1name
598224392CV3894122single nucleotide variantNM_001080792.4(CCDC32):c.516C>T (p.Asp172=)not provided [RCV005257365]likely benign154055401340554013Humanname
405715457CV3295729single nucleotide variantNM_001080792.4(CCDC32):c.133G>C (p.Asp45His)not specified [RCV004427448]uncertain significance154056288340562883Humanname
152080374CV1666948single nucleotide variantNM_001080792.4(CCDC32):c.529G>C (p.Gly177Arg)not provided [RCV002211293]uncertain significance154055400040554000Humanname
401830053CV2747650single nucleotide variantNM_001080792.4(CCDC32):c.471T>A (p.Tyr157Ter)Cardiofacioneurodevelopmental syndrome [RCV003329209]uncertain significance154055405840554058Human1name
40904013CV976534duplicationNM_001080792.4(CCDC32):c.162_163dup (p.Glu55fs)Cardiofacioneurodevelopmental syndrome [RCV001270248]pathogenic154056285240562853Human1name