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
818 739 1727 770 347 5 3844

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAH 385 331 230 92 25 3 845
GLDC 138 166 292 220 48 0 742
CBS 74 81 200 141 30 2 461
AMT 41 40 99 62 8 0 219
MOCS1 7 7 145 28 27 0 203
ACADSB 11 8 118 21 39 0 187
D2HGDH 11 2 104 19 37 0 161
GPHN 12 6 72 39 8 0 136
SUOX 17 12 87 17 10 0 130
ALDH4A1 5 4 94 17 33 0 129
ASPA, SPATA22 30 52 42 26 3 0 124
MOCS2 10 2 40 5 8 0 63
PRODH 9 1 35 10 13 0 60
GCSH 1 1 38 10 7 0 56
L2HGDH 18 1 21 8 5 0 52
IDH2 3 2 17 11 11 0 43
ITGA2, MOCS2 0 0 5 15 15 0 34
SLC6A9 4 0 12 9 7 0 32
AMT, NICN1 5 6 18 5 1 0 31
BCKDK 3 1 17 7 3 0 31
DAAM2, MOCS1 0 0 15 4 4 0 23
TIMM50 9 0 3 0 0 0 12
ALDH4A1, LOC120893116 0 0 7 2 3 0 11
PCDH19 0 10 1 0 0 0 11
SLC25A1 7 2 4 0 0 0 11
ASPA 7 2 1 0 0 0 10
DMAC2L, L2HGDH 0 0 2 1 2 0 5
GLDC, LOC113839554 3 1 1 0 0 0 5
HSERVPRODH, PRODH 2 0 1 0 0 0 3
DGCR6, PRODH 1 0 1 0 0 0 2
​intergenic 0 0 1 0 0 0 1
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
ASPA, CTNS, SHPK, 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: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 516 103 767 625 181 0 2192
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 217 153 125 4 14 0 513
Natera, Inc. 105 8 133 27 38 0 311
OMIM 162 0 0 0 0 0 162
Integrated Genetics/Laboratory Corporation of America 117 18 0 0 0 0 135
Baylor Genetics 62 17 43 0 0 0 122
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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 4 0 0 0 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
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 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
New York Genome Center 0 3 1 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
Beijing Obstetrics and Gynecology Hospital,Capital Medical University 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 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
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 1 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
Shaanxi Institute for Pediatric Diseases,Xi'an Children's Hospital 0 1 1 0 0 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
Laboratory of Medical Genetics, University of Torino 1 0 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1
Alibakhshi Medical Genetics Laboratory,Kermanshah University of Medical Sciences 1 0 0 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 1

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