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:

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
388 53 256 14 9 720

Gene and significance breakdown #

Total genes and gene combinations: 180
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 50 0 6 1 0 57
AR 34 0 5 0 0 39
GJB2 30 2 4 1 0 37
THRB 25 2 3 0 0 30
SRD5A2 23 0 6 0 0 29
BTK 17 0 1 0 0 18
FBN1 10 5 3 0 0 18
MC4R 10 0 4 0 0 14
MTM1 12 0 2 0 0 14
HSD17B3, SLC35D2-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 4 1 0 10
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
FLNA 0 0 6 0 0 6
LOC126806630, THRB 2 0 4 0 0 6
SCN5A 1 3 2 0 0 6
TTN 0 0 4 2 0 6
HESX1 3 0 2 0 0 5
MYH11 0 0 5 0 0 5
PMP22 0 0 1 0 4 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
FGFR3 4 0 0 0 0 4
KCNQ2 1 3 0 0 0 4
MBD5 0 0 4 0 0 4
PCDH19 1 2 1 0 0 4
SPRED1 0 0 3 1 0 4
ACTC1, GJD2-DT 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
NOTCH1 0 0 3 0 0 3
POLG 0 0 3 0 0 3
SCN1A 2 0 1 0 0 3
SCN8A 0 0 3 0 0 3
SLC19A2 3 0 0 0 0 3
VCL 0 0 3 0 0 3
ACTN2 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
DEPDC5 2 0 0 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
MVP-DT, PRRT2 0 0 2 0 0 2
MYBPC3 2 0 0 0 0 2
MYH6 0 0 2 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
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, LOC129995978 0 0 1 0 0 1
ANK2 0 0 1 0 0 1
ANK2, LOC126807137 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 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
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
KLLN, LOC130004273, PTEN 0 0 1 0 0 1
LAMA2, LOC123864065 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
LOC126806433, TTN 0 0 1 0 0 1
LOC126861896, MYH6 0 0 1 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 0 0 1
LOC129931894, SLC19A2 1 0 0 0 0 1
LOC129936949, PDHB 0 0 1 0 0 1
LOC130060307, PMP22 0 0 0 0 1 1
LOC130065345, PANK2 0 0 1 0 0 1
MED12 0 0 1 0 0 1
MYL2 0 1 0 0 0 1
MYL3 0 0 1 0 0 1
MYPN 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
POLG, POLGARF 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
TAFAZZIN 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 50 0 6 1 0 57
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
Seizure 1 0 25 0 0 26
Marfan syndrome 9 5 5 0 0 19
Autosomal recessive agammaglobulinemia 1 17 0 1 0 0 18
Hypertrophic cardiomyopathy 2 3 9 2 0 16
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
Congenital isolated adrenocorticotropic hormone deficiency 6 0 3 0 1 10
Duchenne muscular dystrophy 10 0 0 0 0 10
Epilepsy 1 1 4 3 1 10
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
Loeys-Dietz syndrome 2 1 5 0 0 8
Long QT syndrome 1 4 3 0 0 8
Primary dilated cardiomyopathy 1 2 5 0 0 8
Hereditary von Willebrand disease 6 0 1 0 0 7
Laron-type isolated somatotropin defect 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
Aganglionic megacolon 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
Bilateral tonic-clonic seizure 0 1 3 0 0 4
Brugada syndrome 1 2 1 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
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
Seizures, benign familial neonatal, 1 0 3 0 0 0 3
46,XY sex reversal 1 1 0 1 0 0 2
Adrenal insufficiency 0 0 2 0 0 2
Arterial tortuosity syndrome 1 0 1 0 0 2
Autism; Seizure 1 0 1 0 0 2
Bicuspid aortic valve 0 0 2 0 0 2
CHARGE syndrome 2 0 0 0 0 2
Cardiac arrhythmia 0 0 2 0 0 2
Centronuclear myopathy 1 0 1 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
Familial atrioventricular septal defect 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
Myoclonic epilepsy 0 0 2 0 0 2
Neonatal seizure 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
Sudden death 0 0 2 0 0 2
developmental delay with intractable seizures 0 0 2 0 0 2
3-Methylglutaconic aciduria type 2 1 0 0 0 0 1
Achondroplasia 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
Autism 0 0 1 0 0 1
Autoimmune interstitial lung disease-arthritis syndrome 1 0 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 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 seizure 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 syndrome 0 0 1 0 0 1
Crouzon syndrome-acanthosis nigricans syndrome 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 13 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 14 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 9 1 0 0 0 0 1
Developmental delay 0 0 1 0 0 1
Dilated cardiomyopathy 3B 1 0 0 0 0 1
Dystonic disorder 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
Epileptic encephalopathy 1 0 0 0 0 1
Generalized myoclonic seizure 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
Heart, malformation of 0 0 1 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
Landau-Kleffner syndrome 0 0 1 0 0 1
Left ventricular dilatation 0 0 1 0 0 1
Leukoencephalopathy 0 0 1 0 0 1
Long QT syndrome 1 1 0 0 0 0 1
Macrocephaly; 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 primary 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
Refractory epilepsy 0 0 1 0 0 1
Renal carnitine transport defect 0 0 1 0 0 1
Rieger anomaly 1 0 0 0 0 1
Scoliosis 0 0 1 0 0 1
Self-limited epilepsy with centrotemporal spikes 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 pattern 0 1 0 0 0 1
developmental delay with absent seizures 0 0 1 0 0 1
pharmacoresistant multifocal epilepsy 0 0 1 0 0 1

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