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 |
risk factor |
not provided |
total |
98
|
340
|
110
|
17
|
32
|
2
|
3
|
5
|
590
|
Gene and significance breakdown #
Total genes and gene combinations: 121
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
TP53
|
8
|
99
|
0 |
0 |
0 |
0 |
0 |
0 |
105
|
NBN
|
8
|
11
|
39
|
10
|
20
|
0 |
0 |
2
|
85
|
PRF1
|
2
|
2
|
13
|
1
|
9
|
0 |
0 |
0 |
27
|
BRAF
|
3
|
25
|
0 |
0 |
0 |
0 |
0 |
0 |
25
|
IKZF1
|
1
|
6
|
10
|
0 |
0 |
2
|
0 |
0 |
19
|
PAX5
|
1
|
13
|
2
|
0 |
0 |
0 |
0 |
0 |
15
|
LIG4
|
2
|
0 |
12
|
0 |
0 |
0 |
0 |
0 |
14
|
NRAS
|
0 |
14
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
HRAS, LRRC56
|
0 |
13
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
BCL10
|
11
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
12
|
FBXW7
|
0 |
10
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
PTPN11
|
2
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
MYC
|
4
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
8
|
EZH2
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
B2M
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CASP10
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
6
|
GNB1
|
2
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
6
|
HAVCR2
|
1
|
1
|
3
|
0 |
1
|
0 |
3
|
0 |
6
|
IDH1
|
0 |
5
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
KRAS
|
1
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
PIK3CA
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
RHOA
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
SF3B1
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
ATM
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
ERG
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
INSL6, JAK2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
5
|
JAK3
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
TET2
|
0 |
2
|
3
|
0 |
0 |
0 |
0 |
0 |
5
|
ATM, C11orf65
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
BCR
|
0 |
0 |
3
|
1
|
0 |
0 |
0 |
0 |
4
|
CDK4
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
CDKN2A
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
FGFR3
|
3
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
FLT3
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
RAD54L
|
1
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
4
|
ABL1
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
DNMT3A
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
IDH2
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
JAK1, LOC126805749
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
KMT2D
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
LOC126860438, NBN
|
1
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
NF1
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
PLCG2
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
PTEN
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
XPO1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
BAX
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BRCA2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BTK
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
2
|
CREBBP
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ETV6
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FAT1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FGFR1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
IL7R
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
KMT2C
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC105376032, PAX5
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
MAP2K1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PMS2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SF3B2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TBL1XR1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ARID4A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AURKA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BARD1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BCORL1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BRCA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CBL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CD79B, GH-LCR
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDKN2B, LOC130001608
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDKN2C
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHEK2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CRBN, TRNT1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CRLF2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CSF3R
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CYLD
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DIS3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EIF1AX
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ERCC4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ERF
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ETV6, LOC126861452
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FGFR4
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FOXO1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
H1-4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
H2AC16
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
H2AC17
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
H3C1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HDAC4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
JAK2, ZBTB20
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KDM5C, LOC130068308
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIT
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KLHDC8B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LATS1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC107982234, WT1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130063979, PIK3R2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LRRC41, RAD54L
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MET
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MST1R
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYD88
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NCOR2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NKX2-1, SFTA3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NOTCH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NSD2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NT5C2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
P2RY8
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PALB2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PIK3R2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RAD54B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RECQL4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RXRA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SAMHD1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SDHA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SETBP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SF3A1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SGK1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SH2B3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SOCS1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
STAT3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TCF3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TET3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TRAF5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
YAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
Database of Curated Mutations (DoCM)
|
5
|
238
|
0 |
0 |
0 |
0 |
0 |
3
|
246
|
Fulgent Genetics, Fulgent Genetics
|
12
|
8
|
56
|
10
|
2
|
0 |
0 |
0 |
88
|
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center
|
1
|
55
|
2
|
0 |
0 |
0 |
0 |
0 |
58
|
OMIM
|
45
|
0 |
0 |
0 |
0 |
0 |
3
|
0 |
48
|
Genomic Diagnostics Laboratory, National Institute of Medical Genomics
|
1
|
22
|
12
|
0 |
0 |
0 |
0 |
0 |
35
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
4
|
31
|
0 |
0 |
0 |
35
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
5
|
2
|
10
|
0 |
0 |
0 |
0 |
0 |
17
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
1
|
13
|
1
|
0 |
0 |
0 |
0 |
16
|
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania
|
12
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
Wasik Lab, Fox Chase Cancer Center
|
3
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
9
|
Mendelics
|
3
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
6
|
Pathology Department, Puerta del Mar University Hospital
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
University Health Network, Princess Margaret Cancer Centre
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Molecular Diagnostics Laboratory, University of Rochester Medical Center
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorios de Investigación en Biología Molecular e Inmunología, Universidad Autónoma de Nayarit
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Biotechnology, Institute of Science, Nirma University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
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 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Genomics Laboratory, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
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Molecular Genetics Lab, CHRU Brest
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GenomeConnect - Invitae Patient Insights Network
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Solve-RD Consortium
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