ClinVar Miner

Variants from Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center

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
26 35 16 0 0 77

Gene and significance breakdown #

Total genes and gene combinations: 59
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA2 3 0 0 3
COL4A4 1 2 0 3
NF1 3 0 0 3
DLG4 2 0 0 2
FLG 0 2 0 2
GBE1 2 0 0 2
GPSM2 1 1 0 2
KCNQ1 0 2 0 2
MCM3AP 0 1 1 2
NPHP4 0 1 1 2
PIGO 0 0 2 2
PKHD1 0 2 0 2
RECQL4 0 1 1 2
SLC12A3 1 1 0 2
STRC 0 1 1 2
ADPRS 0 1 0 1
ARHGEF9 0 1 0 1
ARID1B 1 0 0 1
ATP6AP1 0 1 0 1
ATP7A 0 0 1 1
BRCA1 0 0 1 1
CHD3 1 0 0 1
CLCN5 0 1 0 1
COL1A1 0 0 1 1
COL1A2 1 0 0 1
COL4A5 0 1 0 1
CSNK2B 1 0 0 1
DAND5 0 0 1 1
EBF3 0 1 0 1
EEF1A2 0 1 0 1
EFTUD2 1 0 0 1
FANCB 1 0 0 1
GANAB 0 1 0 1
GATAD2B 0 1 0 1
HEXA 1 0 0 1
HRAS, LRRC56 1 0 0 1
ITPR3 0 0 1 1
JAG1 0 1 0 1
KARS1 0 1 0 1
KIF11 0 1 0 1
MYRF 0 1 0 1
NAA15 1 0 0 1
NOTCH3 1 0 0 1
PANK2 0 1 0 1
PDHA1 0 0 1 1
PHF21A 0 1 0 1
PKP2 1 0 0 1
PLOD2 0 1 0 1
RBCK1 1 0 0 1
SCN5A 0 1 0 1
SLC25A38 0 1 0 1
SLC34A3 1 0 0 1
SLC6A8 0 0 1 1
SON 0 1 0 1
SPTBN1 0 1 0 1
TERT 0 0 1 1
TRPC6 0 0 1 1
TTN 0 1 0 1
ZSWIM6 0 0 1 1

Condition and significance breakdown #

Total conditions: 62
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Condition pathogenic likely pathogenic uncertain significance total
Breast-ovarian cancer, familial, susceptibility to, 2 3 0 0 3
Neurofibromatosis, type 1 3 0 0 3
Adult polyglucosan body disease 2 0 0 2
Autosomal recessive Alport syndrome 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 16 0 1 1 2
Chudley-McCullough syndrome 1 1 0 2
Familial hypokalemia-hypomagnesemia 1 1 0 2
Hyperphosphatasia with intellectual disability syndrome 2 0 0 2 2
Ichthyosis vulgaris 0 2 0 2
Intellectual developmental disorder 62 2 0 0 2
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0 1 1 2
Polycystic kidney disease 4 0 2 0 2
Senior-Loken syndrome 4 0 1 1 2
Alagille syndrome due to a JAG1 point mutation 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 1
Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 0 1 0 1
Atrial fibrillation, familial, 3; Long QT syndrome 1; Short QT syndrome type 2 0 1 0 1
Autosomal recessive Alport syndrome; Benign familial hematuria 0 1 0 1
Autosomal recessive hypophosphatemic bone disease 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 1 1
Bruck syndrome 2 0 1 0 1
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 1 0 1
Cardiac-urogenital syndrome 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1J 0 0 1 1
Coffin-Siris syndrome 1 1 0 0 1
Costello syndrome 1 0 0 1
Creatine transporter deficiency 0 0 1 1
Dent disease type 1 0 1 0 1
Developmental and epileptic encephalopathy, 8 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 1 0 1
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9 0 1 0 1
Fanconi anemia complementation group B 1 0 0 1
Focal segmental glomerulosclerosis 2 0 0 1 1
Heterotaxy 0 0 1 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 1
Immunodeficiency 47 0 1 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 1 0 1
Intellectual disability, autosomal dominant 38 0 1 0 1
Intellectual disability, autosomal dominant 50 1 0 0 1
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 1 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 1
Menkes kinky-hair syndrome 0 0 1 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 1 1
Osteogenesis imperfecta 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 0 0 1 1
Pigmentary pallidal degeneration 0 1 0 1
Poirier-Bienvenu neurodevelopmental syndrome 1 0 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 1 0 1
Polyglucosan body myopathy type 1 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 0 1 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 1
Rapadilino syndrome 0 1 0 1
Rothmund-Thomson syndrome type 2 0 0 1 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 1
Sideroblastic anemia 2 0 1 0 1
Snijders Blok-Campeau syndrome 1 0 0 1
Tay-Sachs disease 1 0 0 1
X-linked Alport syndrome 0 1 0 1
ZTTK syndrome 0 1 0 1

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