ClinVar Miner

Variants from Donald Williams Parsons Laboratory, Baylor College of Medicine

Location: United States  Primary collection method: clinical testing
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 other total
26 3 2 0 0 52 83

Gene and significance breakdown #

Total genes and gene combinations: 60
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance other total
CTNNB1, LOC126806658 0 0 0 8 8
BRCA1 2 0 0 1 3
DDX3X 0 0 0 3 3
KIT 0 0 0 3 3
MED12 0 0 0 3 3
ARID1A 0 0 0 2 2
BRCA2 1 0 0 1 2
FOXO3 0 0 0 2 2
PTPN11 1 0 0 1 2
SET 0 0 0 2 2
SMARCA4 1 0 0 1 2
TP53 1 1 0 0 2
TSC2 0 0 0 2 2
ALDH4A1 1 0 0 0 1
AOPEP, FANCC 1 0 0 0 1
ARID1B 0 0 0 1 1
BCOR 0 0 0 1 1
BUB1B 1 0 0 0 1
CHEK2 1 0 0 0 1
CLCN5 1 0 0 0 1
CTNNB1 0 0 0 1 1
CTNNB1, LOC126806659 0 0 0 1 1
DICER1 1 0 0 0 1
DIS3L2 0 1 0 0 1
DSG2 1 0 0 0 1
FGFR1 1 0 0 0 1
FGFR3 0 0 0 1 1
FZD6 0 0 0 1 1
H3-3A 0 0 0 1 1
INSL6, JAK2 0 0 0 1 1
KRAS 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 1
LOC112577475, RBM15 0 0 0 1 1
MAP2K4 0 0 0 1 1
MAP2K7 0 0 0 1 1
MET 0 0 0 1 1
MN1 0 0 0 1 1
MSH2 1 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 1
MT-TL1 1 0 0 0 1
MUTYH 1 0 0 0 1
MYBPC3 1 0 0 0 1
NF2 0 0 0 1 1
NONO 0 0 0 1 1
NPIPB2, TNFRSF17 0 0 0 1 1
NSD1 0 0 0 1 1
NTRK2 0 0 0 1 1
PHF6 0 0 0 1 1
PIK3CA 1 0 0 0 1
PPP1R1A 0 0 1 0 1
PRCC 0 0 0 1 1
PRKAR1A 0 0 0 1 1
PSAP 1 0 0 0 1
RNF213 0 0 0 1 1
RNF216 0 0 1 0 1
SBDS 1 0 0 0 1
SCN5A 1 0 0 0 1
TET2 0 0 0 1 1
TJP2 1 0 0 0 1
WT1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 42
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance other total
Medulloblastoma 0 0 0 12 12
Neuroblastoma 0 0 0 9 9
Nephroblastoma 1 1 0 6 8
Dysgerminoma 0 0 0 5 5
Hepatoblastoma 0 0 0 4 4
Rosette-forming glioneuronal tumor 2 0 2 0 4
Choroid plexus carcinoma 0 0 0 3 3
Glioblastoma 0 0 0 3 3
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 0 0 2
ADRENAL CORTICAL NEOPLASM 0 0 0 1 1
Adrenal cortex carcinoma 0 1 0 0 1
Aminoglycoside-induced deafness; Mitochondrial non-syndromic sensorineural hearing loss 1 0 0 0 1
Anaplastic ependymoma 0 0 0 1 1
Angiosarcoma 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 1 0 0 0 1
Bone osteosarcoma 0 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 1
Cholestasis, progressive familial intrahepatic, 4 1 0 0 0 1
DICER1-related tumor predisposition 1 0 0 0 1
Dent disease type 1 1 0 0 0 1
Desmoplastic small round cell tumor 0 0 0 1 1
Embryonal rhabdomyosarcoma 0 0 0 1 1
Familial adenomatous polyposis 2 1 0 0 0 1
Fanconi anemia complementation group C 1 0 0 0 1
Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 1 1
Hyperprolinemia type 2 1 0 0 0 1
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 1 0 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 1
Long QT syndrome 3 1 0 0 0 1
Lynch syndrome 1 1 0 0 0 1
Mitochondrial disease 1 0 0 0 1
Mosaic variegated aneuploidy syndrome 1 1 0 0 0 1
Noonan syndrome 1 0 0 0 1
Noonan syndrome 3 0 1 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 1 1
Rhabdoid tumor predisposition syndrome 2 1 0 0 0 1
SMALL ROUND CELL TUMOR 0 0 0 1 1
Shwachman-Diamond syndrome 1 1 0 0 0 1
Von Hippel-Lindau syndrome 1 0 0 0 1
Wilms tumor 1 1 0 0 0 1
YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA 0 0 0 1 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.