ClinVar Miner

Variants studied for cerebral organic aciduria

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
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Gene type:
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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
1437 937 2431 421 303 27 5070

Gene and significance breakdown #

Total genes and gene combinations: 120
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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
FH 92 31 214 27 4 0 359
GLDC 59 124 155 24 13 0 331
BTD 205 69 99 8 16 1 309
CBS 38 69 108 8 4 2 197
GCDH 49 75 52 6 5 0 159
ABAT 15 0 93 29 20 1 158
HLCS 17 22 97 14 7 0 147
ALDH5A1 15 2 98 25 10 2 145
CYP27A1 62 32 57 8 9 0 141
ACADSB 8 4 92 15 12 0 127
TH 14 35 54 7 4 1 108
AMT 23 33 52 4 3 0 102
ADSL 16 7 69 6 0 0 94
MOCS1 5 4 55 29 1 0 93
GAMT 11 2 66 8 3 4 91
OTC 45 20 18 6 6 0 89
D2HGDH 11 2 49 16 10 0 87
DLD 14 23 39 6 11 0 87
MAT1A 12 2 52 7 12 0 84
ASPA, SPATA22 16 44 27 2 1 0 81
PDHX 11 2 29 12 17 1 69
SLC6A8 28 1 26 4 1 9 63
PDHA1 39 11 11 1 0 0 60
CLPB 24 1 36 0 1 0 59
GATM 6 0 41 5 8 0 59
SUOX 10 7 36 3 2 0 53
PSPH 3 0 34 8 7 0 51
PHGDH 12 1 33 2 3 0 48
DLAT 2 1 31 10 6 0 46
PDP1 2 0 38 2 3 0 45
LIAS 5 1 37 1 1 0 44
AMACR, C1QTNF3-AMACR 2 0 29 9 3 0 43
GPHN 6 4 25 7 1 0 43
HADH 9 1 22 7 1 0 39
MTR 14 3 15 1 2 0 34
PSAT1 7 1 21 2 3 0 34
NFU1 4 2 17 6 2 0 30
TPI1 8 0 14 5 3 0 30
MOCS2 10 1 17 2 0 0 28
ITGA2, MOCS2 0 0 3 14 9 0 26
MTRR 12 0 10 0 4 0 26
PDHB 2 0 16 1 7 0 26
IBA57 12 1 11 1 0 0 25
PRODH 8 1 11 2 6 0 24
SERAC1 12 5 9 0 0 0 23
DLAT, PIH1D2 1 0 13 3 3 0 20
GCDH, SYCE2 5 4 12 0 2 0 20
ALDH4A1 4 4 7 0 7 0 19
HCFC1 6 0 11 2 0 0 19
L2HGDH 11 1 6 0 1 0 19
PGK1 14 1 5 0 0 0 19
ALDH5A1, GPLD1 1 0 12 5 1 0 18
ATP6V0A2 11 1 5 0 2 0 18
HIBCH 11 5 6 0 0 0 18
MMADHC 12 1 4 0 1 0 18
GCSH 1 1 8 3 4 0 17
AMT, NICN1 1 5 10 1 0 0 16
SPR 10 2 3 0 0 0 15
DAAM2, MOCS1 0 0 7 4 2 0 13
HSD17B10 8 2 3 0 0 0 13
BOLA3 4 0 8 0 0 0 12
AHCY 2 0 6 0 3 0 11
ABHD14A-ACY1, ACY1 8 1 3 0 0 0 10
ACO2, POLR3H 4 2 4 0 0 0 10
APIP, PDHX 0 0 4 0 6 0 10
DNAJC12 9 0 1 0 0 0 10
​intergenic 8 0 1 0 0 0 9
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 6 3 0 9
BCKDK 3 1 5 0 0 0 9
LOC111982876, MAT1A 0 0 6 2 1 0 9
MAOA 4 1 4 0 0 0 9
ACO2 2 1 5 1 0 0 8
MECR 7 0 1 0 0 2 8
SLC1A4 5 2 1 0 0 0 8
GAMT, NDUFS7 0 0 0 4 4 0 7
IDH2 2 2 3 0 1 0 7
INS, INS-IGF2, TH 0 0 0 2 5 0 7
SLC25A1 7 1 0 0 0 0 7
SLC6A9 4 0 2 0 1 0 7
GCH1 6 0 0 0 0 0 6
LIAS, LOC112939935 0 0 5 1 0 0 6
MYO5A 3 0 1 0 2 0 6
SLC6A19 4 0 2 0 0 0 6
ADK 2 2 0 0 1 0 5
GLDC, LOC113839554 2 2 1 0 0 0 5
PMPCB 5 0 0 0 0 0 5
INS, TH 0 0 1 3 0 0 4
TIMM50 4 0 0 0 0 0 4
UROC1 2 0 2 0 0 0 4
ASPA 3 0 0 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 3
HSERVPRODH, PRODH 2 0 1 0 0 0 3
ISCA2 3 1 0 0 0 0 3
MPC1 2 1 0 0 0 0 3
OGDH 0 0 3 0 0 0 3
ATP6V1A 2 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 2
CYB5R3 2 0 0 0 0 0 2
DHFR 2 0 0 0 0 0 2
GLRX5 2 0 0 0 0 0 2
ISCA1 2 0 0 0 0 0 2
ABAT, PMM2, TMEM186 0 0 1 0 0 0 1
ADK, LOC102723439 1 0 0 0 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
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 1
CENPT, THAP11 0 1 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
DLD, LAMB1 0 0 0 0 1 0 1
DMAC2L, L2HGDH 0 0 1 0 0 0 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, LOC101928414, SHF, SLC28A2, SORD, TERB2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 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
KYNU 1 0 0 0 0 0 1
L2HGDH, LINC01588, LINC01599, LOC100506499, SOS2, VCPKMT 1 0 0 0 0 0 1
LIAS, LOC111365176, LOC112939935, RPL9, UGDH 0 0 1 0 0 0 1
PKHD1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 471 104 1016 69 55 0 1714
Illumina Clinical Services Laboratory,Illumina 54 15 960 280 184 0 1493
Counsyl 131 477 338 22 0 0 968
OMIM 549 0 0 0 1 0 550
ClinGen PAH Variant Curation Expert Panel 112 77 53 3 7 0 252
Research and Development, ARUP Laboratories 194 2 6 0 12 0 214
GeneReviews 157 0 0 0 13 0 170
Fulgent Genetics,Fulgent Genetics 74 23 55 0 0 0 152
Mendelics 43 34 17 17 20 0 131
Integrated Genetics/Laboratory Corporation of America 93 20 0 0 0 0 113
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 0 96
Baylor Genetics 56 14 6 0 0 0 76
Genomic Research Center, Shahid Beheshti University of Medical Sciences 17 11 24 0 0 0 52
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 2 50
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 4 2 0 16 22 0 44
Institute of Human Genetics,Klinikum rechts der Isar 23 11 0 0 0 0 34
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 20 7 0 0 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 1 4 0 17 0 26
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 3 0 13 6 0 26
Genetic Services Laboratory, University of Chicago 15 7 3 0 0 0 25
Genome Diagnostics Laboratory,University Medical Center Utrecht 11 0 0 6 4 0 21
National Institute of Mental Health and Neurosciences 8 7 4 0 2 0 21
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 6 10 5 0 0 0 21
SingHealth Duke-NUS Institute of Precision Medicine 6 7 7 1 0 0 21
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 3 0 10 0 0 0 13
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 1 7 0 0 0 13
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 13 13
Division of Human Genetics,Children's Hospital of Philadelphia 8 2 2 0 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 2 3 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 12 12
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 4 6 0 11
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 5 0 1 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 5 0 0 0 0 9
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 9 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 8 0 0 0 9
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 3 0 0 0 0 8
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 5 0 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 4 1 1 1 0 7
Broad Institute Rare Disease Group,Broad Institute 1 0 6 0 0 0 7
Elsea Laboratory,Baylor College of Medicine 6 0 0 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 2 4 0 0 6
Bonnen Lab,Baylor College of Medicine 6 0 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 2 0 0 0 0 6
Caldovic Lab,Children's National Health System 0 6 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health: University of Minnesota 2 4 0 0 0 0 6
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 3 0 0 0 0 5
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
Undiagnosed Diseases Network,NIH 1 0 3 0 0 0 4
TIDEX, University of British Columbia 0 1 3 0 0 0 4
Reproductive Health Research and Development,BGI Genomics 1 1 0 0 2 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 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
Genomic Medicine Lab, University of California San Francisco 1 1 1 0 0 0 3
Department of Biotechnology and Microbiology,Karnatak University Dharwad 0 2 1 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 2
GOLD service, Hunter New England Health 2 0 0 0 0 0 2
Sandor Lifesciences Pvt Ltd 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 0 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
laboratory of biochemistry,Caen University Hospital 2 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 2
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases,Karolinska University Hospital 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Kasturba Medical College,Manipal University 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
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 1
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 1 0 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
Genomics For Life 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Natera Inc 1 0 0 0 0 0 1
Medical Genetics and Immunology,Urmia University of Medical sciences 0 1 0 0 0 0 1
St George's Genomics Service,St George's University Hospitals NHS FT 1 0 0 0 0 0 1

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