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: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance other total
CTNNB1 0 0 0 10 10
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
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
H3F3A 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-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: 43
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Condition pathogenic likely pathogenic uncertain significance other total
Medulloblastoma 0 0 0 12 12
Neuroblastoma 0 0 0 9 9
Wilms Tumor 0 0 0 6 6
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 1 2 0 0 0 2
Nephroblastoma 1 1 0 0 2
ADRENAL CORTICAL NEOPLASM 0 0 0 1 1
Adrenocortical carcinoma 0 1 0 0 1
Aminoglycoside-induced deafness; Deafness, nonsyndromic sensorineural, mitochondrial 1 0 0 0 1
Anaplastic ependymoma 0 0 0 1 1
Angiosarcoma 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy, type 10; Dilated cardiomyopathy 1BB 1 0 0 0 1
Breast-ovarian cancer, familial 2 1 0 0 0 1
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 1 0 0 0 1
Deficiency of pyrroline-5-carboxylate reductase 1 0 0 0 1
Dent disease 1 1 0 0 0 1
Desmoplastic small round cell tumor 0 0 0 1 1
Embryonal rhabdomyosarcoma 0 0 0 1 1
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 1 0 0 0 1
Fanconi anemia, complementation group C 1 0 0 0 1
Gaucher disease, atypical, due to saposin C deficiency; Krabbe disease atypical due to Saposin A deficiency; Combined saposin deficiency; Sphingolipid activator protein 1 deficiency 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 1 1
Li-Fraumeni syndrome 1 1 0 0 0 1
Long QT syndrome 3 1 0 0 0 1
Lynch syndrome I 1 0 0 0 1
MYH-associated polyposis 1 0 0 0 1
Mitochondrial diseases 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
Osteosarcoma 0 0 0 1 1
Progressive familial intrahepatic cholestasis 4 1 0 0 0 1
Renal cell carcinoma, papillary, 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 syndrome 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

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