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
364 508 694 217 144 5 1734

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 169 225 103 21 12 4 446
GLDC 39 119 132 40 36 0 319
CBS 27 67 90 41 16 1 218
ACADSB 6 3 86 14 15 0 119
AMT 16 30 43 6 7 0 90
MOCS1 5 2 52 29 2 0 88
D2HGDH 11 2 45 16 9 0 82
ASPA, SPATA22 9 39 25 2 1 0 73
GPHN 4 4 22 13 6 0 48
SUOX 10 2 31 3 1 0 44
MOCS2 10 1 16 2 0 0 27
ITGA2, MOCS2 0 0 3 14 9 0 26
PRODH 6 1 9 3 7 0 21
ALDH4A1 4 3 2 3 9 0 18
L2HGDH 11 1 5 1 0 0 18
GCSH 1 1 6 3 6 0 17
AMT, NICN1 1 5 8 1 0 0 14
DAAM2, MOCS1 0 0 7 4 2 0 13
BCKDK 3 1 3 0 0 0 7
SLC25A1 6 0 0 0 0 0 6
SLC6A9 4 0 0 0 2 0 6
IDH2 2 0 0 1 1 0 4
TIMM50 4 0 0 0 0 0 4
ASPA 3 0 0 0 0 0 3
DGCR6, HSERVPRODH, PRODH 2 0 1 0 0 0 3
DGCR6, PRODH 2 0 0 0 2 0 3
DNAJC12 3 0 0 0 0 0 3
DMAC2L, L2HGDH 0 0 1 0 1 0 2
GLDC, LOC113839554 1 1 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ARMC5, BCKDK, BCL7C, C16orf58, CCDC189, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, 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
GJB1 0 0 1 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010 0 0 1 0 0 0 1
HSERVPRODH, PRODH 1 0 0 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: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 148 28 199 89 96 0 560
Counsyl 77 280 168 12 0 0 537
Illumina Clinical Services Laboratory,Illumina 30 9 309 100 44 0 492
ClinGen PAH Variant Curation Expert Panel, 68 49 31 3 7 0 158
OMIM 154 0 0 0 0 0 154
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 42 10 17 0 0 0 69
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 2 50
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 4 7 0 0 0 16
Genetic Services Laboratory, University of Chicago 6 4 3 0 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 3 0 0 0 0 11
Division of Human Genetics,Children's Hospital of Philadelphia 6 2 1 0 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 1 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
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
Department of Prenatal Diagnosis, Center for Genetic Medicine,Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University 0 4 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 0 1 1 0 4
Mendelics 1 1 0 1 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 0 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
Baylor Miraca Genetics Laboratories, 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 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
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

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