ClinVar Miner

Variants in gene PNPLA6

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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 total
32 12 229 91 44 359

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary spastic paraplegia 39 16 7 193 45 30 265
not provided 6 3 29 27 16 79
not specified 0 0 6 30 19 50
Ataxia-hypogonadism-choroidal dystrophy syndrome 8 0 0 0 0 8
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 4 0 0 0 0 4
Amyotrophic lateral sclerosis 0 0 2 0 0 2
Ataxia-hypogonadism-choroidal dystrophy syndrome; Laurence-Moon syndrome; Hereditary spastic paraplegia 39; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0 0 2 0 0 2
Dysarthria; Cerebellar atrophy; Gait ataxia 0 0 2 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia; Cerebellar ataxia; Dysarthria 0 2 0 0 0 2
Laurence-Moon syndrome 2 0 0 0 0 2
Retinal dystrophy 0 0 2 0 0 2
Marfanoid habitus and intellectual disability 0 0 1 0 0 1
PNPLA6-related disorders 1 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 1
Robin sequence; Autistic behavior; Short stature; Anemia; Distal arthrogryposis; Spastic diplegia; Gingival overgrowth; Dolichocephaly; Abnormality of mitochondrial metabolism; Congenital facial diplegia; Congenital encephalopathy; Congenital bilateral ptosis; Congenital conductive hearing impairment; Symptomatic seizures; Severe global developmental delay; Oromandibular dystonia; Mitochondrial respiratory chain defects 0 1 0 0 0 1
Spastic Paraplegia, Recessive 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 7 107 58 25 207
Illumina Clinical Services Laboratory,Illumina 1 0 95 10 7 113
GeneDx 3 2 6 26 25 62
Athena Diagnostics Inc 0 0 11 1 10 22
OMIM 16 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 8 2 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 3 7
Gharavi Laboratory,Columbia University 0 0 6 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 2 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 2 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University 0 0 3 0 0 3
GeneReviews 2 0 0 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Claritas Genomics 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Mendelics 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
State Key Lab of Medical Genetics, Central South University 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 1

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