ClinVar Miner

Variants in gene CHAT

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
27 12 169 104 66 1 345

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial infantile myasthenia 21 6 152 60 26 1 261
not provided 6 3 24 37 38 0 106
not specified 0 0 2 21 26 0 40
Apnea, central sleep; Respiratory insufficiency; Febrile seizures; Pes planus; Lactic acidosis; External ophthalmoplegia; Gastroesophageal reflux; Decreased activity of the pyruvate dehydrogenase complex; Progressive muscle weakness; Progressive ptosis; Aspiration pneumonia 2 0 0 0 0 0 2
Congenital myasthenic syndrome 1 1 0 0 0 0 2
Congenital myasthenic syndrome 4C 0 2 0 0 0 0 2
Sleep disturbance; Muscle weakness; Gait disturbance; Rigidity; Gait ataxia; Gait imbalance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 3 146 84 26 0 270
GeneDx 2 2 3 6 44 0 57
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 17 2 9 0 31
PreventionGenetics, PreventionGenetics 0 0 0 9 20 0 29
Genetic Services Laboratory, University of Chicago 0 2 2 8 5 0 17
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 4 6 0 14
OMIM 11 0 0 0 0 0 11
Athena Diagnostics Inc 0 0 3 0 5 0 8
Baylor Genetics 0 2 5 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 6 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Mendelics 0 0 0 0 1 0 1
GeneReviews 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1

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