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 |
affects |
association |
risk factor |
not provided |
total |
67
|
30
|
745
|
417
|
198
|
1
|
14
|
11
|
17
|
1438
|
Gene and significance breakdown #
Total genes and gene combinations: 40
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
risk factor |
not provided |
total |
LPIN2
|
23
|
15
|
379
|
310
|
57
|
0 |
0 |
0 |
11
|
746
|
COL1A1
|
14
|
9
|
132
|
26
|
16
|
0 |
0 |
0 |
5
|
198
|
IL1RN
|
9
|
1
|
87
|
65
|
24
|
0 |
0 |
0 |
0 |
179
|
ANKH, OTULIN
|
0 |
0 |
95
|
8
|
68
|
0 |
0 |
0 |
0 |
171
|
ANKH
|
5
|
1
|
13
|
3
|
21
|
0 |
0 |
0 |
0 |
43
|
CIITA
|
0 |
1
|
25
|
0 |
1
|
0 |
0 |
1
|
0 |
28
|
ANKH, LOC100130744, OTULIN
|
1
|
0 |
0 |
3
|
9
|
0 |
0 |
0 |
0 |
11
|
COL1A1, LOC126862586
|
2
|
1
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
7
|
PADI4
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
0 |
0 |
6
|
ANKH, LOC129993725
|
0 |
0 |
4
|
0 |
1
|
0 |
0 |
0 |
0 |
5
|
PADI2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
0 |
0 |
4
|
SYK
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
FRZB
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
2
|
0 |
3
|
AP4B1, PTPN22
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
0 |
2
|
CUL9
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC130062090, LOC130062091, LOC130062092, LPIN2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MLKL
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
TLR1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TLR8
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
A4GALT
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CD244
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
CHRNG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
COL2A1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
CPT2, LOC129930561
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EMILIN2, LPIN2, SMCHD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GDF5, LOC109461476
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
IL10, IL19
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL10, IL19, LOC128462409
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL1F10, IL1RN, IL36RN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL1R1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL6, LOC126859963
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
IRF5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MIF
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
NFKBIA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NFKBIL1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
RELN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SLC22A4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
SOCS1
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SUPT20H
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
risk factor |
not provided |
total |
Invitae
|
28
|
13
|
296
|
339
|
41
|
0 |
0 |
0 |
0 |
717
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
399
|
59
|
165
|
0 |
0 |
0 |
0 |
622
|
Fulgent Genetics, Fulgent Genetics
|
14
|
3
|
33
|
12
|
6
|
0 |
0 |
0 |
0 |
68
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
18
|
30
|
10
|
0 |
0 |
0 |
0 |
58
|
Revvity Omics, Revvity
|
0 |
0 |
27
|
0 |
0 |
0 |
0 |
0 |
0 |
27
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
0 |
26
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
20
|
0 |
1
|
0 |
0 |
0 |
0 |
21
|
Mendelics
|
3
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
0 |
0 |
8
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Baylor Genetics
|
0 |
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Department of Zoology, University of the Punjab, Lahore
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
0 |
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
2
|
1
|
0 |
0 |
0 |
0 |
4
|
Aleixo Muise Laboratory, Hospital For Sick Children
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Biochemistry and Biotechnology, Faculty of Life Sciences, University of the Punjab
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Vinuesa Lab, Australian National University
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenHotel - European Research Laboratory for Rheumatoid Arthritis, University of Paris Saclay
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Human Genetics Department, Tarbiat Modares University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centro Nacional de Biotecnologia, Consejo Superior de Investigaciones Cientificas
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Experimental and Health Sciences Department, Universitat Pompeu Fabra
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.