ClinVar Miner

Variants in gene ALPL

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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 not provided total
59 84 119 58 37 2 304

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 45 23 45 42 13 0 155
Infantile hypophosphatasia 22 55 35 3 0 0 110
Hypophosphatasia 12 5 25 15 25 1 83
not specified 0 2 6 7 15 0 29
Low alkaline phosphatase 1 5 10 0 0 0 16
Adult hypophosphatasia 7 1 0 0 0 0 8
Childhood hypophosphatasia 8 1 0 0 0 0 8
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 5 2 0 0 0 0 7
Odontohypophosphatasia 4 0 0 0 0 0 4
Hypertelorism; Clubfoot; Preeclampsia; Gestational diabetes; Congenital omphalocele; Atrial septal defect; Cleft upper lip; Toe syndactyly; Ambiguous genitalia; Preauricular pit; Preauricular skin tag; Preaxial polydactyly; Horseshoe kidney; Hand oligodactyly; Bilateral talipes equinovarus; Camptodactyly of toe; Foot oligodactyly; Cloverleaf skull; Femoral bowing; Short femur; Bowed humerus; Short humerus; Finger syndactyly; Short lower limbs; Bowing of the long bones; Maternal hypertension; Equinovarus deformity; Upper limb undergrowth; Maternal teratogenic exposure; Hyperemesis gravidarum; Camptodactyly of finger; Maternal seizures; Maternal first trimester fever; Ventricular septal defect; Cleft palate; Postaxial polydactyly 0 1 1 0 0 0 2
Hypophosphatasia, perinatal lethal 2 0 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
Skeletal dysplasia 2 0 0 0 0 0 2
Cerebral palsy; Seizures; Muscular hypotonia of the trunk; Unsteady gait; Pes planus; Dysphasia; Premature birth; Abnormality of visual evoked potentials; Intellectual disability; Gait ataxia; Epileptiform EEG discharges; Neonatal asphyxia 0 1 0 0 0 0 1
Elevated serum creatine phosphokinase; Myopathy; Atrioventricular block; Myotonia; EMG: myotonic runs; Cardiac conduction abnormality 0 1 0 0 0 0 1
Epilepsy 0 1 0 0 0 0 1
Fractures of the long bones 0 1 0 0 0 0 1
Hypophosphatemia 0 0 0 0 0 1 1
Seizures; Generalized myoclonic seizures 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 13 17 40 10 0 122
Counsyl 4 52 35 3 0 0 94
Illumina Clinical Services Laboratory,Illumina 5 0 25 15 25 0 70
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 3 12 0 8 0 29
OMIM 23 0 0 0 0 0 23
Integrated Genetics/Laboratory Corporation of America 8 5 3 1 2 0 19
GeneDx 3 4 9 2 0 0 18
PreventionGenetics,PreventionGenetics 0 0 0 4 12 0 16
Institute of Human Genetics,University of Wuerzburg 1 5 10 0 0 0 16
Athena Diagnostics Inc 0 2 2 0 8 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 2 2 5 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 6 1 0 1 1 0 9
GeneReviews 5 0 0 0 3 0 8
Fulgent Genetics,Fulgent Genetics 5 2 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 2 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 4 1 0 0 0 6
Gharavi Laboratory,Columbia University 0 0 5 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 3 0 0 0 3
Myriad Women's Health, Inc. 2 1 0 0 0 0 3
Ambry Genetics 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 0 0 0 0 2
Children's Hospital of Soochow University,Soochow University 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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