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Division Of Personalized Genomic Medicine (Columbia University Irving Medical Center), PGL

General information

Division Of Personalized Genomic Medicine, PGL
Columbia University Irving Medical Center
701 West 168th street, HHSC 1401A
New York
New York
United States - 10032
https://www.pathology.columbia.edu/diagnostic-specialties/division-personalized-genomic-medicine
Organization ID: 508215

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 77

Gene

GeneSubmissionsLast Updated
ADPRS1Jan 14, 2023
ARHGEF91Jan 14, 2023
ARID1B1Nov 30, 2023
ATP6AP11May 19, 2022
ATP7A1Nov 30, 2023
BRCA11Aug 31, 2023
BRCA23Aug 31, 2023
CCDST2Aug 31, 2023
CHD31Jan 14, 2023
CLCN51Nov 30, 2023
COL1A11Nov 30, 2023
COL1A21Jan 14, 2023
COL4A43Nov 30, 2023
COL4A51Jan 14, 2023
CSNK2B1Aug 31, 2023
DAND51Sep 6, 2022
DLG42Aug 31, 2023
EBF31Nov 30, 2023
EEF1A21Aug 31, 2023
EFTUD21Aug 31, 2023
FANCB1Aug 31, 2023
FLG2Aug 31, 2023
GANAB1Nov 30, 2023
GATAD2B1Nov 30, 2023
GBE12Nov 30, 2023
GPSM22Nov 30, 2023
HEXA1Aug 31, 2023
HRAS1Aug 31, 2023
ITPR31Aug 31, 2023
JAG11Aug 31, 2023
KARS11Nov 30, 2023
KCNQ12Nov 30, 2023
KIF111Aug 31, 2023
LRRC561Aug 31, 2023
MCM3AP2Nov 30, 2023
MYRF1Aug 31, 2023
NAA151Nov 30, 2023
NF13Nov 30, 2023
NOTCH31Aug 31, 2023
NPHP42Nov 30, 2023
PANK21Nov 30, 2023
PDHA11Aug 31, 2023
PHF21A1Aug 31, 2023
PIGO2Aug 31, 2023
PKHD12Aug 31, 2023
PKP21Aug 31, 2023
PLOD21Aug 31, 2023
RBCK11Aug 31, 2023
RECQL42Aug 31, 2023
SCN5A1Nov 30, 2023
SLC12A32Nov 30, 2023
SLC25A381Nov 30, 2023
SLC34A31Nov 30, 2023
SLC6A81Nov 30, 2023
SON1Aug 31, 2023
SPTBN11Nov 30, 2023
STRC2Aug 31, 2023
TERT1Nov 30, 2023
TRPC61Aug 31, 2023
TTN1Aug 31, 2023
TTN-AS11Aug 31, 2023
ZSWIM61Aug 31, 2023

Condition

NameSubmissionsLast Updated
Adult polyglucosan body disease2Nov 30, 2023
Alagille syndrome due to a JAG1 point mutation1Aug 31, 2023
Arrhythmogenic right ventricular dysplasia 91Aug 31, 2023
Atrial fibrillation, familial, 101Nov 30, 2023
Atrial fibrillation, familial, 32Nov 30, 2023
Autosomal recessive Alport syndrome3Nov 30, 2023
Autosomal recessive hypophosphatemic bone disease1Nov 30, 2023
Autosomal recessive nonsyndromic hearing loss 162Aug 31, 2023
Benign familial hematuria1Nov 30, 2023
Breast-ovarian cancer, familial, susceptibility to, 11Aug 31, 2023
Breast-ovarian cancer, familial, susceptibility to, 23Aug 31, 2023
Bruck syndrome 21Aug 31, 2023
Brugada syndrome 11Nov 30, 2023
Cardiac-urogenital syndrome1Aug 31, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Aug 31, 2023
Charcot-Marie-Tooth disease, demyelinating, type 1J1Aug 31, 2023
Chudley-McCullough syndrome2Nov 30, 2023
Coffin-Siris syndrome 11Nov 30, 2023
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11Nov 30, 2023
Costello syndrome1Aug 31, 2023
Creatine transporter deficiency1Nov 30, 2023
Dent disease type 11Nov 30, 2023
Developmental and epileptic encephalopathy, 81Jan 14, 2023
Developmental delay, impaired speech, and behavioral abnormalities1Nov 30, 2023
Dilated cardiomyopathy 1E1Nov 30, 2023
Dilated cardiomyopathy 1G1Aug 31, 2023
Familial hypokalemia-hypomagnesemia2Nov 30, 2023
Fanconi anemia complementation group B1Aug 31, 2023
Focal segmental glomerulosclerosis 21Aug 31, 2023
Heterotaxy1Sep 6, 2022
Hyperphosphatasia with intellectual disability syndrome 22Aug 31, 2023
Hypertrophic cardiomyopathy 91Aug 31, 2023
Hypotonia, ataxia, and delayed development syndrome1Nov 30, 2023
Ichthyosis vulgaris2Aug 31, 2023
Immunodeficiency 471May 19, 2022
Infantile cortical hyperostosis1Nov 30, 2023
Intellectual developmental disorder 622Aug 31, 2023
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Aug 31, 2023
Intellectual disability, autosomal dominant 381Aug 31, 2023
Intellectual disability, autosomal dominant 501Nov 30, 2023
Jervell and Lange-Nielsen syndrome 11Nov 30, 2023
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1Nov 30, 2023
Long QT syndrome 12Nov 30, 2023
Long QT syndrome 31Nov 30, 2023
Mandibulofacial dysostosis-microcephaly syndrome1Aug 31, 2023
Menkes kinky-hair syndrome1Nov 30, 2023
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Aug 31, 2023
Myopathy, myofibrillar, 9, with early respiratory failure1Aug 31, 2023
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Jan 14, 2023
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1Aug 31, 2023
Neurofibromatosis, type 13Nov 30, 2023
Osteogenesis imperfecta1Jan 14, 2023
Osteogenesis imperfecta type I1Nov 30, 2023
Osteogenesis imperfecta type III1Nov 30, 2023
Osteogenesis imperfecta with normal sclerae, dominant form1Nov 30, 2023
Osteogenesis imperfecta, perinatal lethal1Nov 30, 2023
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development2Nov 30, 2023
Pigmentary pallidal degeneration1Nov 30, 2023
Poirier-Bienvenu neurodevelopmental syndrome1Aug 31, 2023
Polycystic kidney disease 3 with or without polycystic liver disease1Nov 30, 2023
Polycystic kidney disease 42Aug 31, 2023
Polyglucosan body myopathy type 11Aug 31, 2023
Progressive familial heart block, type 1A1Nov 30, 2023
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11Nov 30, 2023
Pyruvate dehydrogenase E1-alpha deficiency1Aug 31, 2023
Rapadilino syndrome1Aug 31, 2023
Rothmund-Thomson syndrome type 21Aug 31, 2023
Senior-Loken syndrome 42Nov 30, 2023
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Nov 30, 2023
Short QT syndrome type 22Nov 30, 2023
Sick sinus syndrome 11Nov 30, 2023
Sideroblastic anemia 21Nov 30, 2023
Snijders Blok-Campeau syndrome1Jan 14, 2023
Tay-Sachs disease1Aug 31, 2023
Tibial muscular dystrophy1Aug 31, 2023
Ventricular fibrillation, paroxysmal familial, type 11Nov 30, 2023
X-linked Alport syndrome1Jan 14, 2023
ZTTK syndrome1Aug 31, 2023