ClinVar Miner

Variants studied for Nephrotic syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
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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 #

Total submitters: 12
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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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