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 |
other |
not provided |
total |
256
|
482
|
1006
|
608
|
84
|
1
|
9
|
1
|
15
|
62
|
2469
|
Gene and significance breakdown #
Total genes and gene combinations: 86
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
risk factor |
other |
not provided |
total |
SUFU
|
49
|
17
|
521
|
439
|
22
|
0 |
0 |
0 |
0 |
0 |
1035
|
CDH23
|
42
|
115
|
102
|
12
|
11
|
0 |
0 |
0 |
0 |
0 |
279
|
TP53
|
17
|
173
|
6
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
196
|
BRCA2
|
66
|
4
|
69
|
26
|
17
|
0 |
0 |
0 |
0 |
1
|
183
|
ELP1
|
5
|
13
|
113
|
35
|
1
|
0 |
0 |
0 |
0 |
0 |
166
|
AIP
|
9
|
9
|
47
|
11
|
15
|
0 |
0 |
0 |
0 |
49
|
123
|
LOC130004614, SUFU
|
12
|
0 |
71
|
34
|
3
|
0 |
0 |
0 |
0 |
0 |
117
|
GNAS
|
12
|
0 |
11
|
33
|
2
|
0 |
0 |
0 |
0 |
0 |
57
|
PIK3CA
|
0 |
35
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
35
|
C10orf105, CDH23
|
5
|
13
|
9
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
29
|
AIP, LOC130006206
|
0 |
0 |
13
|
1
|
4
|
0 |
0 |
0 |
0 |
9
|
24
|
CTNNB1, LOC126806658
|
2
|
22
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
0 |
24
|
ALK
|
0 |
3
|
11
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
15
|
PTCH2
|
1
|
0 |
6
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
12
|
EGFR
|
0 |
10
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
GPR161
|
1
|
0 |
8
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
10
|
DICER1
|
6
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
NRAS
|
0 |
8
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
MEN1
|
1
|
2
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
7
|
NF1
|
5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
USP8
|
5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CDH23, LOC111982869
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
FBXW7
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
FGFR1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
IDH1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
PTEN
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
ACVR1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
BRAF
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
CLDN14
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
4
|
CREBBP
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
CTNNB1, LOC126806659
|
2
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
IDH2
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
DDX3X
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
0 |
3
|
PTPN11
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ARL3, CYP17A1, SFXN2, SUFU, TRIM8, WBP1L
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CTNNB1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EP300
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EPHB4
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
FOXO3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
2
|
GNAI2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GPR101
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
H3-3A
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
H3C11
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
KEL
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
PCSK7
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PIK3R1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ACRBP
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
AIP, LOC130006204
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AIP, LOC130006206, LOC130006207
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ALX4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ANK3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARID1A
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ARID1B
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ARID2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BAP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BRIP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDH23, VSIR
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CTCF
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GLI2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KAT6A
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KMT2D
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC100507346, PTCH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC107303340, VHL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC124416895, LOC130004614, LOC130004615, LOC130004616, SUFU
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LRP2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MSH6
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MYCN, MYCNOS
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NF2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
NONO
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
NSD1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
PMS2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PRKAR1A
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
PTCH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RB1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RET
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SF3B2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SMARCA2
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SMARCA4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
SMO
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TSC2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
TUBB4A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
VHL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
WRN
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
risk factor |
other |
not provided |
total |
Invitae
|
59
|
17
|
534
|
451
|
16
|
0 |
0 |
0 |
0 |
0 |
1077
|
Fulgent Genetics, Fulgent Genetics
|
93
|
21
|
297
|
121
|
30
|
0 |
0 |
0 |
0 |
0 |
562
|
Database of Curated Mutations (DoCM)
|
1
|
297
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
298
|
Baylor Genetics
|
46
|
129
|
53
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
228
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
73
|
31
|
27
|
0 |
0 |
0 |
0 |
0 |
132
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
6
|
5
|
58
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
71
|
GeneReviews
|
0 |
8
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
60
|
69
|
OMIM
|
38
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
38
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
15
|
0 |
15
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
0 |
0 |
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
|
0 |
0 |
0 |
1
|
5
|
0 |
0 |
0 |
0 |
0 |
6
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Mendelics
|
0 |
0 |
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Aziz Sancar Institute of Experimental Medicine, Istanbul University
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Laboratory of Neurooncology, Almazov National Medical Research Centre
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Korbonits Lab, Queen Mary University of London
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Tuberous sclerosis database (TSC2)
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
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 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cancer Genomics Laboratory, Texas Children's Hospital
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Michigan Center for Translational Pathology, University of Michigan
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cancer medicine, Gaomi People's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics Institute, Tel Aviv Sourasky Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Oncology, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Neurosurgery, Guangxi Colleges and Universities Key Laboratory of Preclinical Medicine Research
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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