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 |
---|---|---|---|---|---|
23 | 60 | 46 | 4 | 1 | 132 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
ROBO2 | 0 | 1 | 14 | 3 | 1 | 18 |
ZMYM2 | 1 | 14 | 0 | 0 | 0 | 15 |
ROBO1 | 5 | 5 | 3 | 0 | 0 | 13 |
COL4A1 | 0 | 10 | 0 | 0 | 0 | 10 |
FOXC1 | 0 | 7 | 0 | 0 | 0 | 7 |
FRAS1 | 2 | 2 | 2 | 0 | 0 | 6 |
FREM2 | 0 | 3 | 1 | 0 | 0 | 4 |
SALL1 | 0 | 2 | 2 | 0 | 0 | 4 |
BMP7 | 0 | 0 | 3 | 0 | 0 | 3 |
CHD1L | 0 | 0 | 3 | 0 | 0 | 3 |
HNF1B | 1 | 1 | 1 | 1 | 0 | 3 |
LIFR | 1 | 0 | 2 | 0 | 0 | 3 |
RET | 0 | 0 | 3 | 0 | 0 | 3 |
SLIT2 | 3 | 0 | 0 | 0 | 0 | 3 |
SRGAP1 | 2 | 0 | 1 | 0 | 0 | 3 |
FAT4 | 0 | 2 | 0 | 0 | 0 | 2 |
GDF6 | 1 | 0 | 1 | 0 | 0 | 2 |
GREB1L | 0 | 2 | 0 | 0 | 0 | 2 |
HPSE2 | 2 | 0 | 0 | 0 | 0 | 2 |
NOTCH2 | 0 | 0 | 2 | 0 | 0 | 2 |
TBX18 | 0 | 2 | 0 | 0 | 0 | 2 |
ACE | 0 | 1 | 0 | 0 | 0 | 1 |
ACTG1 | 1 | 0 | 0 | 0 | 0 | 1 |
BICC1 | 0 | 0 | 1 | 0 | 0 | 1 |
CDC5L, POLR1C | 0 | 0 | 1 | 0 | 0 | 1 |
CTU2 | 0 | 1 | 0 | 0 | 0 | 1 |
DHX8, ETV4 | 0 | 1 | 0 | 0 | 0 | 1 |
DNASE1, TRAP1 | 1 | 0 | 0 | 0 | 0 | 1 |
EMC1 | 0 | 1 | 0 | 0 | 0 | 1 |
FRAS1, LOC126807088 | 0 | 0 | 1 | 0 | 0 | 1 |
FREM1 | 0 | 0 | 1 | 0 | 0 | 1 |
GATA3 | 0 | 1 | 0 | 0 | 0 | 1 |
JAG1 | 0 | 0 | 1 | 0 | 0 | 1 |
KAT6B | 0 | 1 | 0 | 0 | 0 | 1 |
KMT2D | 0 | 0 | 1 | 0 | 0 | 1 |
NPHP1 | 1 | 0 | 0 | 0 | 0 | 1 |
NPHP4 | 0 | 1 | 0 | 0 | 0 | 1 |
NRIP1 | 1 | 0 | 0 | 0 | 0 | 1 |
OFD1 | 0 | 0 | 1 | 0 | 0 | 1 |
PAX2 | 1 | 0 | 0 | 0 | 0 | 1 |
SIX2 | 0 | 0 | 1 | 0 | 0 | 1 |
TMEM231 | 0 | 1 | 0 | 0 | 0 | 1 |
TRPS1 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Yale Center for Mendelian Genomics, Yale University | 11 | 52 | 0 | 0 | 0 | 63 |
Institute of Human Genetics, University of Leipzig Medical Center | 5 | 5 | 16 | 3 | 1 | 30 |
Sydney Genome Diagnostics, Children's Hospital Westmead | 4 | 2 | 14 | 1 | 0 | 21 |
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 0 | 1 | 9 | 0 | 0 | 10 |
Weber Lab, Hannover Medical School | 2 | 0 | 3 | 0 | 0 | 5 |
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 3 | 0 | 0 | 3 |
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
Genetics and Molecular Pathology, SA Pathology | 1 | 0 | 0 | 0 | 0 | 1 |