ClinVar Miner

Variants from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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 total
368 43 250 14 9 684

Gene and significance breakdown #

Total genes and gene combinations: 166
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 41 0 6 1 0 48
AR 34 0 5 0 0 39
GJB2 30 2 4 1 0 37
THRB 27 1 7 0 0 35
SRD5A2 23 0 6 0 0 29
BTK 17 0 1 0 0 18
MC4R 10 0 4 0 0 14
MTM1 12 0 2 0 0 14
HSD17B3 10 3 0 0 0 13
MECP2 9 0 1 1 2 13
NR0B1 13 0 0 0 0 13
DMD 12 0 0 0 0 12
FBN1 7 2 3 0 0 12
TBX19 6 0 5 0 1 12
MC2R 8 1 2 0 0 11
CFTR 3 1 6 0 0 10
PTEN 4 0 5 1 0 10
RET 6 1 2 1 0 10
KCNQ1 4 4 1 0 0 9
VWF 6 0 2 0 0 8
GHR 6 0 1 0 0 7
LHCGR, STON1-GTF2A1L 6 1 0 0 0 7
MYH7 1 3 3 0 0 7
PTPN11 6 0 1 0 0 7
TTN 0 0 5 2 0 7
FLNA 0 0 6 0 0 6
PMP22 0 0 1 0 5 6
SCN5A 1 3 2 0 0 6
FGFR3 5 0 0 0 0 5
HESX1 3 0 2 0 0 5
MYH11 0 0 5 0 0 5
PPT1 4 0 1 0 0 5
RYR2 0 1 4 0 0 5
SLC2A10 1 0 4 0 0 5
SNHG14, UBE3A 3 0 2 0 0 5
TPP1 4 0 1 0 0 5
TSC2 2 1 2 0 0 5
ARHGEF9 0 0 1 2 1 4
CHRNA1 1 0 3 0 0 4
FBN2 0 0 4 0 0 4
MBD5 0 0 4 0 0 4
PCDH19 1 2 1 0 0 4
POLG 0 0 4 0 0 4
SLC19A2 4 0 0 0 0 4
SPRED1 0 0 3 1 0 4
ACTC1, LOC101928174 0 0 3 0 0 3
ALDH7A1 1 0 2 0 0 3
AR, LOC109504725 3 0 0 0 0 3
COL5A1 0 0 3 0 0 3
DSP 0 0 3 0 0 3
GNAS 2 1 0 0 0 3
KCNJ2 3 0 0 0 0 3
KCNQ2 1 2 0 0 0 3
KCNT1 0 0 2 1 0 3
LAMA4 0 0 3 0 0 3
MYH6 0 0 3 0 0 3
SCN1A 2 0 1 0 0 3
SCN8A 0 0 3 0 0 3
VCL 0 0 3 0 0 3
ACTN2 0 0 2 0 0 2
ANK2 0 0 2 0 0 2
BRAF 1 0 1 0 0 2
CACNA1A 0 0 2 0 0 2
CDKL5 1 0 1 0 0 2
CHD7 2 0 0 0 0 2
CHRNA4 0 1 1 0 0 2
CLCN2 0 0 2 0 0 2
COL3A1 0 1 1 0 0 2
DSC2 0 0 2 0 0 2
FOXRED1 0 0 2 0 0 2
GAD1 0 0 2 0 0 2
GATM 0 0 2 0 0 2
GP9 2 0 0 0 0 2
GRIN2A 0 0 2 0 0 2
GRIN2B 0 0 2 0 0 2
HRAS, LRRC56 2 0 0 0 0 2
KCNH2 0 0 2 0 0 2
LHX3 0 0 1 1 0 2
LMNA 0 2 0 0 0 2
LOC102724058, SCN1A 0 1 1 0 0 2
MYBPC3 2 0 0 0 0 2
MYLK 0 0 2 0 0 2
NEXN 0 0 2 0 0 2
NF2 2 0 0 0 0 2
NOTCH1 0 0 2 0 0 2
PEX3 1 1 0 0 0 2
POU1F1 0 1 1 0 0 2
PRKAG2 0 0 2 0 0 2
PRRT2 0 0 2 0 0 2
RIT1 1 0 1 0 0 2
SLC25A22 0 0 2 0 0 2
SPTAN1 0 0 2 0 0 2
SRY 1 0 1 0 0 2
ST3GAL3 0 0 2 0 0 2
TBX1 0 0 2 0 0 2
TGFBR1 1 1 0 0 0 2
TNNT2 0 0 1 1 0 2
A2ML1 0 0 1 0 0 1
ACBD6, LHX4 0 0 1 0 0 1
ACTA2 1 0 0 0 0 1
ALDH5A1 0 0 1 0 0 1
ALDH5A1, GPLD1 0 0 1 0 0 1
BAG3 1 0 0 0 0 1
CACNA1C 0 0 1 0 0 1
CACNB2, NSUN6 0 0 1 0 0 1
CASQ2 0 1 0 0 0 1
CASR 1 0 0 0 0 1
CBS 0 0 1 0 0 1
CFAP53 0 0 1 0 0 1
CFTR, LOC111674472 0 0 1 0 0 1
CHRNA2 0 0 1 0 0 1
CITED2 0 0 1 0 0 1
COL1A1 1 0 0 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 1
COL5A2 0 0 1 0 0 1
CRELD1 0 0 1 0 0 1
DEPDC5 1 0 0 0 0 1
DES 0 1 0 0 0 1
DSG2 0 0 0 1 0 1
EPM2A 0 0 1 0 0 1
FOLR1 0 0 1 0 0 1
GAA 0 0 1 0 0 1
GABRA1 0 0 1 0 0 1
GABRD 0 0 1 0 0 1
GABRG2 0 0 1 0 0 1
GOSR2, LRRC37A2 0 0 1 0 0 1
HPS1 1 0 0 0 0 1
JPH2 0 0 1 0 0 1
JUP 0 0 1 0 0 1
KCNE1 0 1 0 0 0 1
KCNQ3 0 0 1 0 0 1
KCTD7 0 0 1 0 0 1
LAMA2 0 0 1 0 0 1
LHX4 0 0 1 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
MED12 0 0 1 0 0 1
MHRT, MYH7 0 1 0 0 0 1
MYL2 0 1 0 0 0 1
MYPN 0 0 1 0 0 1
PANK2 0 0 1 0 0 1
PDHB 0 0 1 0 0 1
PITX2 1 0 0 0 0 1
PLOD1 0 0 1 0 0 1
PNKP 0 0 1 0 0 1
POMT1 0 0 1 0 0 1
PRICKLE1 0 0 1 0 0 1
PRICKLE2 0 0 1 0 0 1
RBM20 0 0 1 0 0 1
RYR1 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCN1B 0 0 1 0 0 1
SCN2A 0 0 1 0 0 1
SCN9A 0 0 1 0 0 1
SLC22A5 0 0 1 0 0 1
SLC9A6 1 0 0 0 0 1
SOS1 0 0 1 0 0 1
TAZ 1 0 0 0 0 1
TBC1D24 0 0 1 0 0 1
TGFB2 0 0 1 0 0 1
TGFBR2 0 0 1 0 0 1
TMEM43 0 0 1 0 0 1
TNNI3 0 1 0 0 0 1
TOR1A 1 0 0 0 0 1
TSC1 0 0 1 0 0 1
ZEB2 0 0 1 0 0 1
ZFPM2 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 143
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neurofibromatosis, type 1 41 0 6 1 0 48
Androgen resistance syndrome 37 0 5 0 0 42
not specified 7 6 27 0 1 41
Hearing loss 30 2 4 1 0 37
Thyroid hormone resistance, generalized, autosomal dominant 27 1 7 0 0 35
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 23 0 6 0 0 29
Seizures 1 0 25 0 0 26
Agammaglobulinemia, non-Bruton type 17 0 1 0 0 18
Marfan syndrome 7 2 5 0 0 14
Obesity 10 0 4 0 0 14
Pseudohermaphroditism 11 3 0 0 0 14
Congenital adrenal hypoplasia, X-linked 13 0 0 0 0 13
Left ventricular hypertrophy 1 0 10 2 0 13
Noonan syndrome 9 0 4 0 0 13
Severe X-linked myotubular myopathy 12 0 1 0 0 13
Rett syndrome 9 0 1 1 1 12
Becker muscular dystrophy 11 0 0 0 0 11
Glucocorticoid Deficiency 8 1 2 0 0 11
Hypertrophic cardiomyopathy 1 3 5 2 0 11
Adrenocorticotropic hormone deficiency 6 0 3 0 1 10
Duchenne muscular dystrophy 10 0 0 0 0 10
Neuronal ceroid lipofuscinosis 8 0 1 0 0 9
Pituitary hormone deficiency, combined 1 3 0 5 1 0 9
Dilated cardiomyopathy 1 2 5 0 0 8
Epilepsy 0 0 4 3 1 8
Loeys-Dietz syndrome 2 1 5 0 0 8
Long QT syndrome 1 4 3 0 0 8
Laron-type isolated somatotropin defect 6 0 1 0 0 7
von Willebrand disorder 6 0 1 0 0 7
Aortic aneurysm, familial thoracic 2 1 0 5 0 0 6
Charcot-Marie-Tooth disease, type I 0 0 1 0 5 6
Cystic fibrosis 3 1 2 0 0 6
Ehlers-Danlos syndrome, classic type 0 0 6 0 0 6
Hirschsprung disease 3 1 0 1 0 5
Pyridoxine-dependent epilepsy 0 0 5 0 0 5
Septo-optic dysplasia sequence 3 0 2 0 0 5
Tetralogy of Fallot 0 0 5 0 0 5
Angelman syndrome 4 0 0 0 0 4
Brugada syndrome 1 2 1 0 0 4
Generalized tonic-clonic seizures 0 1 3 0 0 4
Lung disease, non-specific 0 0 4 0 0 4
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 4 0 0 0 0 4
developmental delay with seizures 0 1 3 0 0 4
Aortic dilatation 0 0 3 0 0 3
EEG abnormality 0 0 3 0 0 3
Hypochondroplasia 3 0 0 0 0 3
Left ventricular noncompaction 0 2 1 0 0 3
Left ventricular noncompaction cardiomyopathy 0 0 3 0 0 3
Legius syndrome 0 0 3 0 0 3
Lennox-Gastaut syndrome 0 0 3 0 0 3
Leydig cell agenesis 3 0 0 0 0 3
Multiple endocrine neoplasia, type 2a 3 0 0 0 0 3
Tuberous sclerosis syndrome 2 1 0 0 0 3
46,XY sex reversal, type 1 1 0 1 0 0 2
Achondroplasia 2 0 0 0 0 2
Adrenal insufficiency 0 0 2 0 0 2
Arterial tortuosity syndrome 1 0 1 0 0 2
Benign familial neonatal seizures 1 0 2 0 0 0 2
Bicuspid aortic valve 0 0 2 0 0 2
CHARGE association 2 0 0 0 0 2
Cardiac arrhythmia 0 0 2 0 0 2
Chronic sinusitis 0 0 2 0 0 2
Cowden syndrome 1 0 0 1 0 2
Dilated cardiomyopathy with left ventricular noncompaction 0 0 2 0 0 2
Ehlers-Danlos syndrome 0 0 2 0 0 2
Hypoplastic left heart syndrome 0 0 2 0 0 2
Infantile spasms 0 0 2 0 0 2
Intractable seizure 0 0 2 0 0 2
Macrothrombocytopenia 2 0 0 0 0 2
Myotubular myopathy 1 0 1 0 0 2
Neurofibromatosis, type 2 2 0 0 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 1 1 0 0 0 2
Precocious puberty in males 1 1 0 0 0 2
Seizures; Autism 1 0 1 0 0 2
Sudden death 0 0 2 0 0 2
developmental delay with intractable seizures 0 0 2 0 0 2
myoclonic epilepsy 0 0 2 0 0 2
neonatal seizures 1 0 1 0 0 2
3-Methylglutaconic aciduria type 2 1 0 0 0 0 1
Andersen Tawil syndrome 1 0 0 0 0 1
Aortic aneurysm 0 0 1 0 0 1
Aortic dissection 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 1
Atrial septal defect 0 0 1 0 0 1
Autistic disorder of childhood onset 0 0 1 0 0 1
Bannayan-Riley-Ruvalcaba syndrome 0 0 1 0 0 1
Biventricular noncompaction cardiomyopathy 0 0 1 0 0 1
Brain Aneurysm 0 0 1 0 0 1
Cardiomyopathy 0 1 0 0 0 1
Childhood absence epilepsy 0 0 1 0 0 1
Christianson syndrome 1 0 0 0 0 1
Chronic adenoiditis 0 0 1 0 0 1
Complex febrile seizures 0 0 1 0 0 1
Congestive heart failure 0 0 1 0 0 1
Costello syndrome 1 0 0 0 0 1
Craniosynostosis 0 0 1 0 0 1
Crouzon syndrome with acanthosis nigricans 1 0 0 0 0 1
Deafness, autosomal dominant 3a 1 0 0 0 0 1
Developmental delay 0 0 1 0 0 1
Dilated cardiomyopathy 3B 1 0 0 0 0 1
Dilated left ventricle 0 0 1 0 0 1
Dystonia 1 0 0 0 0 1
Early infantile epileptic encephalopathy 13 0 0 1 0 0 1
Early infantile epileptic encephalopathy 14 0 0 1 0 0 1
Early infantile epileptic encephalopathy 7 1 0 0 0 0 1
Early infantile epileptic encephalopathy 9 1 0 0 0 0 1
Epilepsy due to perinatal stroke 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 0 0 1
Epilepsy, nocturnal frontal lobe, type 1 0 1 0 0 0 1
Epileptic encephalopathy 1 0 0 0 0 1
Generalized myoclonic seizures 0 0 1 0 0 1
Glycogen storage disease type II, infantile 0 0 1 0 0 1
Gonadotropin-independent familial sexual precocity 1 0 0 0 0 1
Hemangioma 1 0 0 0 0 1
Hermansky-Pudlak syndrome 1 1 0 0 0 0 1
Hydrocephalus 0 0 1 0 0 1
Intractable status epilepticus 0 0 1 0 0 1
Juvenile myoclonic epilepsy 0 0 1 0 0 1
Leukoencephalopathy 0 0 1 0 0 1
Long QT syndrome 1 1 0 0 0 0 1
Macrocephalus; Developmental delay 0 0 1 0 0 1
McCune-Albright syndrome 1 0 0 0 0 1
Multiple endocrine neoplasia, type 2b 1 0 0 0 0 1
Neonatal severe hyperparathyroidism 1 0 0 0 0 1
Noonan syndrome 1 0 0 1 0 0 1
Osteogenesis imperfecta 1 0 0 0 0 1
Pancreatitis 0 0 1 0 0 1
Primary generalized epilepsy 0 1 0 0 0 1
Pulmonic stenosis 0 0 1 0 0 1
Rasopathy 0 0 0 1 0 1
Renal carnitine transport defect 0 0 1 0 0 1
Rieger syndrome 1 0 0 0 0 1
Rolandic epilepsy 0 0 1 0 0 1
Scoliosis 0 0 1 0 0 1
Severe myoclonic epilepsy in infancy 1 0 0 0 0 1
Shone complex 0 0 1 0 0 1
Subependymal giant-cell astrocytoma 0 0 1 0 0 1
Supraventricular tachycardia 1 0 0 0 0 1
Wolff-Parkinson-White syndrome 0 1 0 0 0 1
developmental delay with absent seizures 0 0 1 0 0 1
intractable epilepsy 0 0 1 0 0 1
pharmacoresistant multifocal epilepsy 0 0 1 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.