ClinVar Miner

Variants studied for acute disease

Included ClinVar conditions (48):
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 association risk factor not provided total
104 193 457 46 17 2 29 3 841

Gene and significance breakdown #

Total genes and gene combinations: 87
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
CEBPA 15 2 139 13 5 0 0 0 174
RANBP2 3 2 117 22 6 0 3 0 150
TP53 2 62 0 0 0 0 0 0 63
FLT3 12 26 0 0 0 0 0 1 38
TICAM1 0 0 34 1 0 0 4 0 38
TLR3 0 0 28 3 3 0 6 0 38
UNC93B1 0 0 29 4 3 0 2 0 38
NBN 2 2 20 0 0 0 0 0 24
KIT 3 2 11 0 0 0 0 0 16
TRAF3 0 0 13 2 0 0 1 0 16
NRAS 0 15 0 0 0 0 0 0 15
CPT2 4 2 6 0 0 0 1 0 13
HRAS, LRRC56 0 13 0 0 0 0 0 0 13
SF3B1 0 13 0 0 0 0 0 0 13
KRAS 3 6 1 0 0 0 0 0 10
NPM1 6 4 0 0 0 0 0 0 10
DNMT3A 6 3 0 0 0 0 0 0 9
GATA2 0 2 6 0 0 0 0 0 8
IDH2 6 2 0 0 0 0 0 0 8
NSD1 3 1 4 0 0 0 0 0 8
INSL6, JAK2 6 1 0 0 0 0 0 1 7
JAK3 0 7 0 0 0 0 0 0 7
RUNX1 0 5 2 0 0 0 0 0 7
TERT 0 1 6 0 0 0 0 0 7
IDH1 6 0 0 0 0 0 0 0 6
PAX5 1 0 3 1 0 0 1 0 6
ETV6 4 0 0 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 4
NUP214 0 0 0 0 0 0 4 0 4
TBK1 0 0 1 0 0 0 3 0 4
U2AF1 0 4 0 0 0 0 0 0 4
ABL1 1 2 0 0 0 0 0 0 3
BRCA2 0 0 3 0 0 0 0 0 3
JAK1 0 3 0 0 0 0 0 0 3
PTPN11 0 3 0 0 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 0 2
AMN, TRAF3 0 0 2 0 0 0 0 0 2
BAX 2 0 0 0 0 0 0 0 2
CDH1 0 0 2 0 0 0 0 0 2
DDX41 2 0 0 0 0 0 0 0 2
DICER1 0 0 2 0 0 0 0 0 2
FGFR1 0 2 0 0 0 0 0 0 2
GNB1 2 0 0 0 0 0 0 0 2
IKZF1 0 0 0 0 0 2 0 0 2
IRF3 0 0 0 0 0 0 2 0 2
LOC110806263, TERT 0 0 2 0 0 0 0 0 2
MSH2 0 0 2 0 0 0 0 0 2
NF1 0 0 2 0 0 0 0 0 2
TMEM127 0 0 2 0 0 0 0 0 2
WT1 0 1 1 0 0 0 0 0 2
ABCD1 0 1 0 0 0 0 0 0 1
ACP3 0 0 1 0 0 0 0 0 1
ACTB 1 0 0 0 0 0 0 0 1
ALK 0 0 1 0 0 0 0 0 1
APC 0 0 1 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 1
CCDC138, EDAR, RANBP2 0 0 1 0 0 0 0 0 1
CCR5, CCR5AS 0 0 0 0 0 0 1 0 1
CEL 0 0 1 0 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 0 1
CRLF2 1 0 0 0 0 0 0 0 1
CSF3R 0 1 0 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 0 1 0 1
GATA1 1 0 0 0 0 0 0 0 1
IL7R 0 1 0 0 0 0 0 0 1
KMT2A, SEPTIN9 1 0 0 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 0 1
NT5C2 0 0 0 0 0 0 0 1 1
PCF11 0 0 1 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 0 1
SHOC2 0 0 1 0 0 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 1
TSC2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 2 2 359 41 12 0 0 0 416
Database of Curated Mutations (DoCM) 35 176 0 0 0 0 0 1 212
Fulgent Genetics,Fulgent Genetics 11 3 58 0 0 0 0 0 72
OMIM 34 0 0 0 0 0 29 0 63
Clinical Genomics Lab,St. Jude Children's Research Hospital 2 0 22 0 0 0 0 0 24
GeneReviews 10 0 0 0 3 0 0 0 13
McDonnell Genome Institute,Washington University in St. Louis 2 0 7 0 0 0 0 0 9
Fujian Institute of Hematology,Fujian Medical University 6 0 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 2 0 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 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 2 2 0 0 0 5
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 2 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 4
Baylor Genetics 1 1 0 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 0 0 2
Mendelics 1 0 0 1 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 0 0 0 0 0 0 2
Kamineni Academy of Medical Sciences & Research Centre,Kamineni Hospitals 0 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Molecular Haematology Laboratory,NSW Health Pathology 2 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Pediatric Leukemia/Lymphoma,Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 1 0 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 0 1

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