ClinVar Miner

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

Location: United States — Primary collection method: clinical testing
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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
386 50 256 14 9 715

Gene and significance breakdown #

Total genes and gene combinations: 172
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 49 0 6 1 0 56
AR 34 0 5 0 0 39
GJB2 30 2 4 1 0 37
THRB 27 2 7 0 0 36
SRD5A2 23 0 6 0 0 29
BTK 17 0 1 0 0 18
FBN1 9 2 3 0 0 14
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
CFTR 4 2 6 0 0 12
DMD 12 0 0 0 0 12
TBX19 6 0 5 0 1 12
MC2R 8 1 2 0 0 11
PTEN 4 1 5 1 0 11
RET 6 1 2 1 0 10
KCNQ1 4 4 1 0 0 9
PTPN11 7 1 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 2 3 2 0 0 7
TSC2 3 2 2 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
ARHGEF9 0 0 1 2 1 4
CHRNA1 1 0 3 0 0 4
DSP 0 0 4 0 0 4
FBN2 0 0 4 0 0 4
KCNQ2 1 3 0 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
CHD7 2 0 1 0 0 3
COL1A1 3 0 0 0 0 3
COL5A1 0 0 3 0 0 3
GNAS 2 1 0 0 0 3
KCNJ2 3 0 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
NOTCH1 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
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
GABRG2 1 0 1 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
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
ATP1A2 0 1 0 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
COL5A1, LOC101448202 0 0 1 0 0 1
COL5A2 0 0 1 0 0 1
COPA 1 0 0 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
ELN 0 0 1 0 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
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
LDB3 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
MYL3 0 0 1 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
TCAP 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: 148
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neurofibromatosis, type 1 49 0 6 1 0 56
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 2 7 0 0 36
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
Hypertrophic cardiomyopathy 2 3 9 2 0 16
Marfan syndrome 8 2 5 0 0 15
Noonan syndrome 10 1 4 0 0 15
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
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
Adrenocorticotropic hormone deficiency 6 0 3 0 1 10
Duchenne muscular dystrophy 10 0 0 0 0 10
Epilepsy 0 1 4 3 1 9
Neuronal ceroid lipofuscinosis 8 0 1 0 0 9
Pituitary hormone deficiency, combined 1 3 0 5 1 0 9
Cystic fibrosis 4 2 2 0 0 8
Dilated cardiomyopathy 1 2 5 0 0 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
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
Tuberous sclerosis syndrome 3 2 0 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
Lennox-Gastaut syndrome 1 0 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
Tetralogy of Fallot 0 0 4 0 0 4
developmental delay with seizures 0 1 3 0 0 4
Aortic dilatation 0 0 3 0 0 3
Benign familial neonatal seizures 1 0 3 0 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
Leydig cell agenesis 3 0 0 0 0 3
Multiple endocrine neoplasia, type 2a 3 0 0 0 0 3
Osteogenesis imperfecta 3 0 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
Atrioventricular septal defect 0 0 2 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
Autoimmune interstitial lung, joint, and kidney disease 1 0 0 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
Congenital heart defects 0 0 1 0 0 1
Congestive heart failure 0 0 1 0 0 1
Connective tissue disorder 1 0 0 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
PTEN hamartoma tumor syndrome 0 1 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

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