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 | total |
---|---|---|---|---|---|
10 | 12 | 94 | 59 | 89 | 263 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
CD2AP | 0 | 0 | 28 | 8 | 3 | 39 |
NPHS1 | 1 | 2 | 14 | 14 | 6 | 37 |
ACTN4 | 0 | 0 | 7 | 10 | 6 | 23 |
TRPC6 | 0 | 2 | 6 | 6 | 4 | 18 |
INF2 | 1 | 0 | 3 | 5 | 9 | 17 |
PLCE1 | 1 | 0 | 3 | 3 | 7 | 14 |
COL4A4 | 0 | 2 | 0 | 0 | 10 | 12 |
LAMB2 | 0 | 0 | 6 | 5 | 1 | 12 |
NPHS2 | 1 | 1 | 1 | 3 | 4 | 10 |
SMARCAL1 | 0 | 0 | 4 | 0 | 5 | 9 |
KIRREL2, NPHS1 | 0 | 0 | 3 | 1 | 2 | 6 |
COL4A3, MFF-DT | 0 | 0 | 0 | 0 | 5 | 5 |
CFH | 0 | 0 | 1 | 0 | 3 | 4 |
COQ2, LOC112997540 | 0 | 1 | 0 | 2 | 1 | 4 |
LMX1B | 0 | 0 | 0 | 1 | 3 | 4 |
MYH9 | 0 | 0 | 1 | 1 | 2 | 4 |
MYO9A | 0 | 0 | 4 | 0 | 0 | 4 |
APOL1 | 3 | 0 | 0 | 0 | 0 | 3 |
AXDND1, NPHS2 | 1 | 0 | 1 | 0 | 1 | 3 |
C2, CFB | 0 | 0 | 0 | 0 | 3 | 3 |
SCARB2 | 0 | 0 | 1 | 0 | 2 | 3 |
WT1 | 1 | 0 | 2 | 0 | 0 | 3 |
C3 | 0 | 0 | 0 | 0 | 2 | 2 |
COL4A5 | 1 | 0 | 0 | 0 | 1 | 2 |
NLRP3 | 0 | 0 | 0 | 0 | 2 | 2 |
NOC3L, PLCE1 | 0 | 0 | 1 | 0 | 1 | 2 |
PDSS2 | 0 | 0 | 2 | 0 | 0 | 2 |
SDCCAG8 | 0 | 2 | 0 | 0 | 0 | 2 |
ALG13 | 0 | 0 | 1 | 0 | 0 | 1 |
ARHGAP24 | 0 | 0 | 1 | 0 | 0 | 1 |
CFI | 0 | 0 | 0 | 0 | 1 | 1 |
COQ8B | 0 | 0 | 1 | 0 | 0 | 1 |
EYA1 | 0 | 1 | 0 | 0 | 0 | 1 |
LOC107982234, WT1 | 0 | 0 | 0 | 0 | 1 | 1 |
NPHP1 | 0 | 0 | 0 | 0 | 1 | 1 |
NPHP3, NPHP3-ACAD11 | 0 | 0 | 0 | 0 | 1 | 1 |
NPHP4 | 0 | 0 | 0 | 0 | 1 | 1 |
NUP93 | 0 | 1 | 0 | 0 | 0 | 1 |
NXF5 | 0 | 0 | 1 | 0 | 0 | 1 |
REG1A | 0 | 0 | 1 | 0 | 0 | 1 |
RPGRIP1L | 0 | 0 | 0 | 0 | 1 | 1 |
SLC17A5 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, The Hospital for Sick Children | 3 | 7 | 49 | 53 | 85 | 197 |
Illumina Laboratory Services, Illumina | 0 | 0 | 28 | 6 | 4 | 38 |
Yale Center for Mendelian Genomics, Yale University | 3 | 2 | 4 | 0 | 0 | 9 |
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill | 1 | 0 | 8 | 0 | 0 | 9 |
NIHR Bioresource Rare Diseases, University of Cambridge | 3 | 2 | 0 | 0 | 0 | 5 |
OMIM | 0 | 0 | 2 | 0 | 0 | 2 |
Blueprint Genetics | 0 | 0 | 2 | 0 | 0 | 2 |
Sydney Genome Diagnostics, Children's Hospital Westmead | 1 | 0 | 1 | 0 | 0 | 2 |
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 0 | 1 | 0 | 0 | 1 |
Renal Department, Renmin Hospital of Wuhan University | 0 | 1 | 0 | 0 | 0 | 1 |