ClinVar Miner

Variants studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
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
688 695 1451 402 347 5 3098

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAH 348 312 219 32 25 3 741
GLDC 98 160 251 107 48 0 561
CBS 61 77 183 85 30 2 378
ACADSB 11 3 111 19 39 0 176
AMT 28 38 91 20 8 0 158
D2HGDH 11 2 94 12 37 0 146
MOCS1 6 4 91 16 27 0 138
ALDH4A1 4 4 89 17 36 0 126
ASPA, SPATA22 25 50 42 6 3 0 103
GPHN 10 6 54 17 8 0 94
SUOX 14 11 51 10 10 0 85
MOCS2 10 2 39 5 8 0 62
PRODH 8 1 23 6 13 0 43
L2HGDH 16 1 14 4 5 0 39
GCSH 1 1 25 4 7 0 37
ITGA2, MOCS2 0 0 5 15 15 0 34
IDH2 2 2 10 7 11 0 31
AMT, NICN1 4 6 17 2 1 0 26
BCKDK 3 1 10 6 3 0 23
DAAM2, MOCS1 0 0 15 4 4 0 23
SLC6A9 4 0 6 6 7 0 23
PCDH19 0 10 1 0 0 0 11
SLC25A1 7 2 0 0 0 0 7
GLDC, LOC113839554 3 1 1 0 0 0 5
TIMM50 4 0 1 0 0 0 5
ASPA 3 0 1 0 0 0 4
DMAC2L, L2HGDH 0 0 1 1 2 0 4
HSERVPRODH, PRODH 2 0 1 0 0 0 3
​intergenic 1 0 1 0 0 0 2
ALDH4A1, MIR4695 0 0 0 1 0 0 1
ARMC5, BCKDK, BCL7C, CCDC189, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, RUSF1, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843 0 0 1 0 0 0 1
ASPA, CTNS, EMC6, HASPIN, ITGAE, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 0 1
DGCR5, DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 1
DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 1
GJB1 0 0 1 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010 0 0 1 0 0 0 1
IDH2, IDH2-DT 0 0 1 0 0 0 1
L2HGDH, LINC01588, LINC01599, LOC100506499, SOS2, VCPKMT 1 0 0 0 0 0 1
PKHD1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 390 71 512 252 181 0 1406
Illumina Clinical Services Laboratory,Illumina 31 9 620 125 189 0 972
Counsyl 67 276 167 12 0 0 522
ClinGen PAH Variant Curation Expert Panel 200 140 115 4 14 0 473
Natera, Inc. 105 8 133 27 38 0 311
OMIM 160 0 0 0 0 0 160
Integrated Genetics/Laboratory Corporation of America 114 18 0 0 0 0 132
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 0 96
Fulgent Genetics,Fulgent Genetics 42 10 17 0 0 0 69
Myriad Women's Health, Inc. 23 37 0 0 0 0 60
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 2 50
Baylor Genetics 35 10 0 0 0 0 45
Mendelics 11 8 5 8 6 0 38
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 7 9 0 0 0 26
GeneReviews 22 0 0 0 0 0 22
Centre for Mendelian Genomics,University Medical Centre Ljubljana 11 7 3 0 0 0 21
Genome Diagnostics Laboratory,University Medical Center Utrecht 11 0 0 5 4 0 20
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 4 2 0 5 9 0 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 4 0 0 0 0 14
Genetic Services Laboratory,University of Chicago 6 4 3 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 6 4 2 1 0 0 13
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 11
Elsea Laboratory,Baylor College of Medicine 1 1 8 0 0 0 10
Division of Human Genetics,Children's Hospital of Philadelphia 6 2 1 0 0 0 9
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 8 1 0 0 0 0 9
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 9 0 0 0 0 0 9
Child Health and Human Development Program,Research Institute of the McGill University Health Center 9 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 3 0 0 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 2 0 1 0 0 7
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 7 0 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 4 0 1 0 6
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 2 3 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 2 2 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 2 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 4 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 2 1 1 1 0 0 5
Centogene AG - the Rare Disease Company 4 0 0 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 0 2 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 0 4
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 0 1 1 0 4
Broad Institute Rare Disease Group,Broad Institute 1 0 2 0 1 0 4
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 0 2 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Ege University Pediatric Genetics,Ege University 1 0 2 0 0 0 3
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 2
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 0 2 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 2 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 1 0 2
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Medical Genetics Center,Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 0 1 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Genomics For Life 0 1 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 1 1
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 0 1
Alibakhshi Medical Genetics Laboratory,Kermanshah University of Medical Sciences 1 0 0 0 0 0 1

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