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
|