If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
18
|
108
|
63
|
1
|
0 |
1
|
184
|
Gene and significance breakdown #
Total genes and gene combinations: 58
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
risk factor |
total |
NPHS1
|
7
|
14
|
2
|
1
|
0 |
22
|
LAMB2
|
1
|
8
|
12
|
0 |
0 |
21
|
LAMA5
|
0 |
8
|
5
|
0 |
0 |
13
|
PLCE1
|
0 |
9
|
3
|
0 |
0 |
12
|
AXDND1, NPHS2
|
0 |
7
|
0 |
0 |
0 |
7
|
FAT1
|
0 |
6
|
1
|
0 |
0 |
7
|
NPHS2
|
2
|
5
|
0 |
0 |
1
|
7
|
COL4A5
|
1
|
3
|
2
|
0 |
0 |
6
|
SMARCAL1
|
0 |
6
|
0 |
0 |
0 |
6
|
TRPC6
|
2
|
1
|
4
|
0 |
0 |
6
|
NUP93
|
0 |
5
|
0 |
0 |
0 |
5
|
TTC21B
|
1
|
2
|
3
|
0 |
0 |
5
|
COL4A4
|
0 |
4
|
0 |
0 |
0 |
4
|
MYH9
|
0 |
0 |
4
|
0 |
0 |
4
|
MYO1E
|
0 |
3
|
1
|
0 |
0 |
4
|
INF2
|
0 |
1
|
2
|
0 |
0 |
3
|
WDR73
|
0 |
3
|
0 |
0 |
0 |
3
|
AGXT
|
0 |
2
|
0 |
0 |
0 |
2
|
ALMS1
|
0 |
0 |
2
|
0 |
0 |
2
|
CLCN5
|
1
|
1
|
0 |
0 |
0 |
2
|
COL4A3, MFF-DT
|
1
|
0 |
1
|
0 |
0 |
2
|
ITGA3
|
0 |
2
|
0 |
0 |
0 |
2
|
ITSN1
|
0 |
0 |
2
|
0 |
0 |
2
|
SGPL1
|
0 |
2
|
0 |
0 |
0 |
2
|
TBC1D8B
|
0 |
1
|
1
|
0 |
0 |
2
|
ACTN4
|
0 |
0 |
1
|
0 |
0 |
1
|
ANLN
|
0 |
0 |
1
|
0 |
0 |
1
|
ARHGAP24
|
0 |
0 |
1
|
0 |
0 |
1
|
ATIC, FN1
|
0 |
1
|
0 |
0 |
0 |
1
|
CDK20
|
0 |
0 |
1
|
0 |
0 |
1
|
COG1, LOC126862634
|
0 |
0 |
1
|
0 |
0 |
1
|
COQ2
|
0 |
1
|
0 |
0 |
0 |
1
|
COQ2, LOC112997540
|
0 |
1
|
0 |
0 |
0 |
1
|
COQ8B
|
0 |
1
|
0 |
0 |
0 |
1
|
CTNS
|
0 |
1
|
0 |
0 |
0 |
1
|
DDX53, PTCHD1
|
0 |
0 |
1
|
0 |
0 |
1
|
DGKE
|
0 |
1
|
0 |
0 |
0 |
1
|
DHTKD1
|
0 |
0 |
1
|
0 |
0 |
1
|
GLA, RPL36A-HNRNPH2
|
0 |
1
|
0 |
0 |
0 |
1
|
ITGB4
|
0 |
0 |
1
|
0 |
0 |
1
|
KANK4
|
0 |
1
|
0 |
0 |
0 |
1
|
KIRREL2, NPHS1
|
1
|
1
|
0 |
0 |
0 |
1
|
LMX1B
|
1
|
1
|
0 |
0 |
0 |
1
|
LOC107372315, OSGEP
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC112272600, MYO1E
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC130004381, PLCE1
|
0 |
0 |
1
|
0 |
0 |
1
|
MXRA5
|
0 |
0 |
1
|
0 |
0 |
1
|
NOC3L, PLCE1
|
0 |
0 |
1
|
0 |
0 |
1
|
OSGEP
|
0 |
0 |
1
|
0 |
0 |
1
|
PAX2
|
0 |
1
|
0 |
0 |
0 |
1
|
PDSS2
|
0 |
1
|
0 |
0 |
0 |
1
|
REN
|
0 |
0 |
1
|
0 |
0 |
1
|
RUNX2
|
0 |
1
|
0 |
0 |
0 |
1
|
SLC35F1
|
0 |
0 |
1
|
0 |
0 |
1
|
SYNPO
|
0 |
1
|
0 |
0 |
0 |
1
|
TNS2
|
0 |
0 |
1
|
0 |
0 |
1
|
TPRKB
|
0 |
0 |
1
|
0 |
0 |
1
|
WT1
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
risk factor |
total |
Yale Center for Mendelian Genomics, Yale University
|
2
|
77
|
12
|
0 |
0 |
91
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
15
|
22
|
26
|
0 |
1
|
64
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
2
|
1
|
7
|
1
|
0 |
11
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
10
|
0 |
0 |
10
|
Precision Medicine Center, Zhengzhou University
|
0 |
8
|
0 |
0 |
0 |
8
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
3
|
0 |
0 |
3
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
2
|
0 |
0 |
2
|
Blueprint Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut
|
0 |
1
|
0 |
0 |
0 |
1
|
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