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 |
association |
established risk allele |
risk factor |
other |
total |
100
|
171
|
118
|
21
|
21
|
9
|
1
|
3
|
4
|
438
|
Gene and significance breakdown #
Total genes and gene combinations: 111
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
established risk allele |
risk factor |
other |
total |
TP53
|
52
|
72
|
45
|
5
|
2
|
0 |
0 |
0 |
0 |
170
|
PRKAR1A
|
2
|
1
|
9
|
6
|
6
|
0 |
0 |
0 |
0 |
23
|
KRAS
|
6
|
3
|
4
|
6
|
0 |
0 |
0 |
0 |
0 |
19
|
PTPN14
|
2
|
0 |
9
|
0 |
7
|
0 |
0 |
0 |
0 |
18
|
PIK3CA
|
0 |
14
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
15
|
ELMO2
|
5
|
2
|
1
|
2
|
3
|
0 |
0 |
0 |
0 |
12
|
CTNNB1, LOC126806658
|
0 |
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
intergenic
|
2
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
KDR
|
1
|
1
|
3
|
1
|
1
|
0 |
0 |
1
|
0 |
7
|
NRAS
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
BRAF
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
FBXW7
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
IDH1
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
CLDN14
|
0 |
0 |
2
|
0 |
0 |
2
|
0 |
0 |
0 |
4
|
CREBBP
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
GNA14
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
HRAS, LRRC56
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
ANTXR1
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
1
|
0 |
3
|
BCOR
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
EPHB4
|
0 |
1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
3
|
GNAS
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
HIF1A
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
NOTCH1
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
SF3B1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ARID1B
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ATRX
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BAP1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CDKN2A
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FAT4
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FLT4
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
IL17RD
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
KEL
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
KMT2D
|
0 |
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
2
|
KRIT1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LEMD3
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC107303340, VHL
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SMARCA2
|
0 |
0 |
1
|
0 |
0 |
1
|
0 |
0 |
0 |
2
|
VHL
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ADGRV1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AKT3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ALK
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARG2, RDH11, RDH12, VTI1B, ZFYVE26
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARID2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPTF
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1H
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CCM2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CCNH, RASA1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDH2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDKN2C, FAF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFTR
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHEK2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
COL2A1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CSMD3
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CTNNB1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CYFIP1, NIPA1, NIPA2, TUBGCP5
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DHFR, MSH3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DIPK1A, RPL5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EGFR
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EIF1AX
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ENG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EPHB4, LOC126860124
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FGFR2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FOXO3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
FUS, TFCP2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GJA4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GLI2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GLMN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
H3-3A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL6, LOC126859963
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
INSL6, JAK2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
JAK3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KAT6A
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KDM4C
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KMT2A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126861339, SDHD
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LZTR1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAP3K3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAP4K4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MECOM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MED12
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
MLH1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MSH6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYB, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYBL1, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYH9
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NF2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
NLRP3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NOTCH4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NPC1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NRIP3-DT, SCUBE2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NSD1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
PDCD10
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PITPNM3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PKD1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PREX2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PTEN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RAD52
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RASA1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RNF213
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SARS1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SMARCA4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SMARCB1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SOS1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SRD5A3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
STAT3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SYN3, TIMP3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TEK
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TSC1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ZFYVE16
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
established risk allele |
risk factor |
other |
total |
Baylor Genetics
|
43
|
29
|
41
|
0 |
0 |
0 |
0 |
0 |
0 |
113
|
Database of Curated Mutations (DoCM)
|
0 |
102
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
102
|
Fulgent Genetics, Fulgent Genetics
|
15
|
3
|
18
|
16
|
2
|
0 |
0 |
0 |
0 |
54
|
Genome Sciences Centre, British Columbia Cancer Agency
|
3
|
7
|
22
|
0 |
0 |
0 |
0 |
0 |
0 |
32
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
0 |
16
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
6
|
4
|
4
|
0 |
1
|
0 |
0 |
0 |
0 |
15
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
2
|
1
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
2
|
0 |
0 |
0 |
9
|
0 |
0 |
0 |
12
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
4
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
4
|
7
|
0 |
0 |
0 |
0 |
11
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
6
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
8
|
0 |
0 |
0 |
0 |
9
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
5
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
2
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
5
|
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KK Women’s and Children’s Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kahle Lab, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Michigan Center for Translational Pathology, University of Michigan
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cancer medicine, Gaomi People's Hospital
|
1
|
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 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Keith Choate Laboratory, Yale University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
James Bennett Lab, Seattle Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetics, Genetics Associates, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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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
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