Data Browser

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

Query: COL4A5,GNB1,NGLY1,SCN1A,SCN2A


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
COL4A5 Hemizygous SPLICE_SITE_DONOR Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Yes Heterozygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable F Adult Glomerulopathy
COL4A5 Hemizygous SPLICE_SITE_DONOR Not available Not applicable Not applicable M Pediatric Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Nephropathy of unknown origin
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Yes Heterozygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable F Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Yes Heterozygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable F Adult Nephropathy of unknown origin
COL4A5 Yes Hemizygous CODON_DELETION Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable F Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Heterozygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable F Adult Glomerulopathy
COL4A5 Heterozygous SPLICE_SITE_ACCEPTOR Not available Not applicable Not applicable F Adult Glomerulopathy
COL4A5 Hemizygous SPLICE_SITE_DONOR Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous FRAME_SHIFT Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous SPLICE_SITE_DONOR Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Heterozygous FRAME_SHIFT Not available Not applicable Not applicable F Adult Nephropathy of unknown origin
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Nephropathy of unknown origin
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Nephropathy of unknown origin
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Nephropathy of unknown origin
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Heterozygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable F Adult Glomerulopathy
COL4A5 Hemizygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous SPLICE_SITE_DONOR Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous SPLICE REGION VARIANT Not available Not applicable Not applicable M Adult Nephropathy of unknown origin
COL4A5 Hemizygous SPLICE_SITE_ACCEPTOR Not available Not applicable Not applicable M Adult Glomerulopathy
COL4A5 Hemizygous STOP_GAINED Not available Not applicable Not applicable M Adult Glomerulopathy
GNB1 Yes Heterozygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Pediatric Unidentified Congenital Disorder
GNB1 Yes Heterozygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Pediatric Unidentified Congenital Disorder
GNB1 Yes Heterozygous NON_SYNONYMOUS_CODING Not available Not applicable Not applicable M Pediatric Unidentified Congenital Disorder
GNB1 Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
GNB1 Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
GNB1 Yes Mosaic Heterozygous NON_SYNONYMOUS_CODING Likely pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
NGLY1 Yes Homozygous FRAME_SHIFT Not available FRAME_SHIFT Not available F Pediatric Unidentified Congenital Disorder
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
SCN2A Yes Mosaic Heterozygous NON_SYNONYMOUS_CODING Likely pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
SCN2A Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
SCN2A Yes Heterozygous NON_SYNONYMOUS_CODING Likely pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
SCN2A Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
SCN2A Yes Heterozygous NON_SYNONYMOUS_CODING Likely pathogenic Not applicable Not applicable M Pediatric Unidentified Congenital Disorder
SCN2A Yes Heterozygous NON_SYNONYMOUS_CODING Pathogenic Not applicable Not applicable F Pediatric Unidentified Congenital Disorder
SCN2A Yes Heterozygous NON_SYNONYMOUS_CODING Likely pathogenic Not applicable Not applicable M Pediatric Epilepsy
SCN2A Yes Mosaic Heterozygous NON_SYNONYMOUS_CODING Likely pathogenic Not applicable Not applicable M Fetal Fetal Anomaly
SCN2A Yes Heterozygous NON_SYNONYMOUS_CODING VUS Not applicable Not applicable F Fetal Fetal Anomaly