ClinVar Miner

Variants studied for acute disease

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 risk factor not provided total
101 190 341 101 89 25 3 835

Gene and significance breakdown #

Total genes and gene combinations: 85
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RANBP2 3 2 88 34 47 3 0 173
CEBPA 14 1 102 32 10 0 0 159
TP53 2 62 0 0 0 0 0 63
TICAM1 0 0 24 9 5 4 0 40
FLT3 12 26 0 0 0 0 1 38
TLR3 0 0 14 8 11 6 0 36
UNC93B1 0 0 11 13 10 2 0 35
NBN 2 2 20 0 0 0 0 24
TRAF3 0 0 7 5 6 1 0 18
KIT 3 2 11 0 0 0 0 16
NRAS 0 15 0 0 0 0 0 15
CPT2 4 2 6 0 0 1 0 13
HRAS, LRRC56 0 13 0 0 0 0 0 13
SF3B1 0 13 0 0 0 0 0 13
NPM1 5 4 0 0 0 0 0 9
DNMT3A 6 2 0 0 0 0 0 8
GATA2 0 2 6 0 0 0 0 8
IDH2 6 2 0 0 0 0 0 8
KRAS 2 5 1 0 0 0 0 8
NSD1 3 1 4 0 0 0 0 8
INSL6, JAK2 6 1 0 0 0 0 1 7
JAK3 0 7 0 0 0 0 0 7
RUNX1 0 5 2 0 0 0 0 7
TERT 0 1 6 0 0 0 0 7
IDH1 6 0 0 0 0 0 0 6
PAX5 1 0 3 0 0 1 0 5
ETV6 4 0 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 4
ABL1 1 2 0 0 0 0 0 3
BRCA2 0 0 3 0 0 0 0 3
JAK1 0 3 0 0 0 0 0 3
PTPN11 0 3 0 0 0 0 0 3
TBK1 0 0 0 0 0 3 0 3
​intergenic 1 0 1 0 0 0 0 2
BAX 2 0 0 0 0 0 0 2
CDH1 0 0 2 0 0 0 0 2
DDX41 2 0 0 0 0 0 0 2
DICER1 0 0 2 0 0 0 0 2
FGFR1 0 2 0 0 0 0 0 2
GNB1 2 0 0 0 0 0 0 2
IRF3 0 0 0 0 0 2 0 2
LOC110806263, TERT 0 0 2 0 0 0 0 2
MSH2 0 0 2 0 0 0 0 2
NF1 0 0 2 0 0 0 0 2
TMEM127 0 0 2 0 0 0 0 2
WT1 0 1 1 0 0 0 0 2
ABCD1 0 1 0 0 0 0 0 1
ACPP 0 0 1 0 0 0 0 1
ACTB 1 0 0 0 0 0 0 1
ALK 0 0 1 0 0 0 0 1
AMN, TRAF3 0 0 1 0 0 0 0 1
APC 0 0 1 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 1
CCDC138, EDAR, RANBP2 0 0 1 0 0 0 0 1
CCR5, CCR5AS 0 0 0 0 0 1 0 1
CEL 0 0 1 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 1
CRLF2 1 0 0 0 0 0 0 1
CSF3R 0 1 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 1 0 1
GATA1 1 0 0 0 0 0 0 1
IL7R 0 1 0 0 0 0 0 1
KMT2A, SEPTIN9 1 0 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 1
NT5C2 0 0 0 0 0 0 1 1
PCF11 0 0 1 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 1
SHOC2 0 0 1 0 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 1
STK11 0 0 1 0 0 0 0 1
TEK 0 1 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 1
TSC2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 1 245 97 85 0 0 429
Database of Curated Mutations (DoCM) 35 176 0 0 0 0 1 212
Fulgent Genetics 11 3 58 0 0 0 0 72
OMIM 34 0 0 0 0 25 0 59
Clinical Genomics Lab,St. Jude Children's Research Hospital 2 0 22 0 0 0 0 24
GeneReviews 10 0 0 0 3 0 0 13
McDonnell Genome Institute,Washington University in St. Louis 2 0 7 0 0 0 0 9
Fujian Institute of Hematology,Fujian Medical University 6 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 2 2 0 0 5
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 2 0 0 0 0 4
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 3 0 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 0 2
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 0 0 0 0 0 2
Kamineni Academy of Medical Sciences & Research Centre,Kamineni Hospitals 0 2 0 0 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 1
Pediatric Leukemia/Lymphoma,Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 1 0 0 0 0 0 0 1
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital,All India Institute of Medical Sciences 0 0 1 0 0 0 0 1
Molecular Haematology Laboratory,NSW Health Pathology 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.