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
494 558 810 155 89 6 1871

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAH 242 247 123 21 11 4 528
GLDC 59 124 155 24 13 0 331
CBS 38 69 108 8 4 2 197
ACADSB 8 4 92 15 12 0 127
AMT 23 33 52 4 3 0 102
MOCS1 5 4 55 29 1 0 93
D2HGDH 11 2 49 16 10 0 87
ASPA, SPATA22 16 44 27 2 1 0 81
SUOX 10 7 36 3 2 0 53
GPHN 6 4 25 7 1 0 43
MOCS2 10 1 17 2 0 0 28
ITGA2, MOCS2 0 0 3 14 9 0 26
PRODH 8 1 11 2 6 0 24
ALDH4A1 4 4 7 0 7 0 19
L2HGDH 11 1 6 0 1 0 19
GCSH 1 1 8 3 4 0 17
AMT, NICN1 1 5 10 1 0 0 16
DAAM2, MOCS1 0 0 7 4 2 0 13
DNAJC12 9 0 1 0 0 0 10
BCKDK 3 1 5 0 0 0 9
IDH2 2 2 3 0 1 0 7
SLC25A1 7 1 0 0 0 0 7
SLC6A9 4 0 2 0 1 0 7
GLDC, LOC113839554 2 2 1 0 0 0 5
TIMM50 4 0 0 0 0 0 4
ASPA 3 0 0 0 0 0 3
HSERVPRODH, PRODH 2 0 1 0 0 0 3
​intergenic 1 0 1 0 0 0 2
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
DMAC2L, L2HGDH 0 0 1 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: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 227 40 289 20 29 0 605
Counsyl 90 282 167 12 0 0 551
Illumina Clinical Services Laboratory,Illumina 30 9 309 100 44 0 492
ClinGen PAH Variant Curation Expert Panel 112 77 53 3 7 0 252
OMIM 160 0 0 0 0 0 160
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 0 96
Integrated Genetics/Laboratory Corporation of America 68 11 0 0 0 0 79
Fulgent Genetics,Fulgent Genetics 42 10 17 0 0 0 69
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 6 8 6 0 39
GeneReviews 22 0 0 0 0 0 22
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 6 8 0 0 0 19
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
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 0 0 0 0 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 2 0 1 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 3 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 2 1 1 1 0 0 5
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
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Ege University Pediatric Genetics,Ege University 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Broad Institute Rare Disease Group,Broad Institute 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: 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
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
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
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
Natera Inc 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 1 1

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