Data Browser

Examples - Gene: SCN1A, Genes: COL4A5,GNB1,NGLY1,SCN1A,SCN2A

Query: SCN1A


Diagnosis Gene Genetic Diagnosis CLIA Confirmed? Zygosity Type of Mutation of Variant A CLIA ACMG Classification of Variant A Type of Mutation of Variant B CLIA ACMG Classification of Variant B Sex Age Group Phenotype
SCN1A Yes Heterozygous CODON_CHANGE_PLUS_CODON_DELETION VUS Not applicable Not applicable M Pediatric Epilepsy
SCN1A Yes Heterozygous FRAME_SHIFT Pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
SCN1A Yes Heterozygous FRAME_SHIFT Pathogenic Not applicable Not applicable M Pediatric Epilepsy
SCN1A Yes Mosaic Heterozygous FRAME_SHIFT Pathogenic Not applicable Not applicable F Adult Unaffected Parent
SCN1A No Heterozygous FRAME_SHIFT Not available Not applicable Not applicable M Pediatric Epilepsy
SCN1A Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable M Pediatric Unidentified Congenital Disorder
SCN1A Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable M Pediatric Epilepsy
SCN1A Yes Heterozygous NON_SYNONYMOUS_CODING Likely pathogenic Not applicable Not applicable F Pediatric Epilepsy
SCN1A Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable M Adult Epilepsy
SCN1A Yes Heterozygous NON_SYNONYMOUS_CODING Likely pathogenic Not applicable Not applicable F Pediatric Epilepsy
SCN1A Yes Heterozygous STOP_GAINED Likely pathogenic Not applicable Not applicable F Adult Unidentified Congenital Disorder
SCN1A Yes Heterozygous STOP_GAINED Likely pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
SCN1A Yes Mosaic Heterozygous STOP_GAINED Likely pathogenic Not applicable Not applicable F Pediatric Epilepsy