ClinVar Miner

Variants studied for cerebral organic aciduria

Included ClinVar conditions (108):
Minimum submission review status: Collection method:
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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
1230 816 2058 604 493 13 4783

Gene and significance breakdown #

Total genes and gene combinations: 122
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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 39 119 133 40 36 0 321
FH 67 23 165 62 11 0 316
BTD 199 57 80 7 15 1 282
CBS 27 67 90 41 16 1 218
ABAT 15 0 78 35 32 1 151
HLCS 14 21 92 15 20 0 149
GCDH 39 68 46 6 7 0 145
ALDH5A1 13 1 85 33 15 2 140
CYP27A1 59 30 54 7 9 0 134
ACADSB 6 3 86 14 15 0 119
TH 14 31 54 7 4 1 104
AMT 16 30 44 6 7 0 91
SLC6A8 22 0 18 20 29 1 90
MOCS1 5 2 52 29 2 0 88
ADSL 14 4 52 13 8 0 82
D2HGDH 11 2 45 16 9 0 82
DLD 14 19 36 6 11 0 82
MAT1A 12 0 48 9 13 0 82
GAMT 10 1 48 18 7 0 79
OTC 38 14 16 8 7 0 75
ASPA, SPATA22 9 39 25 2 1 0 73
PDHX 11 2 29 11 15 1 68
GATM 6 0 27 13 10 0 54
CLPB 22 1 19 6 8 0 53
PSPH 3 0 34 6 8 0 51
GPHN 4 4 22 13 6 0 48
DLAT 2 1 31 11 5 0 47
PDHA1 35 8 4 0 0 0 47
PDP1 2 0 38 2 3 0 45
LIAS 5 1 28 5 6 0 44
SUOX 10 2 31 3 1 0 44
PHGDH 12 1 26 3 5 0 43
ALDH18A1 8 3 17 5 8 1 41
AMACR, C1QTNF3-AMACR 2 0 27 9 5 0 41
HADH 7 1 17 8 2 0 34
PSAT1 6 0 19 4 4 0 32
MTR 11 0 7 2 10 0 29
TPI1 8 0 13 5 3 0 29
NFU1 4 0 17 6 3 0 28
MOCS2 10 1 16 2 0 0 27
ITGA2, MOCS2 0 0 3 14 9 0 26
PDHB 2 0 14 1 8 0 25
IBA57 12 1 5 4 2 0 24
MTRR 7 0 6 0 8 0 21
PRODH 6 1 9 3 7 0 21
DLAT, PIH1D2 1 0 13 3 3 0 20
GCDH, SYCE2 4 4 12 0 1 0 19
HCFC1 6 0 5 2 6 0 19
MMADHC 11 0 1 2 5 0 19
ALDH4A1 4 3 2 3 9 0 18
ALDH5A1, GPLD1 1 0 7 9 2 0 18
ATP6V0A2 12 1 4 0 2 0 18
L2HGDH 11 1 5 1 0 0 18
GCSH 1 1 6 3 6 0 17
SERAC1 11 3 5 0 0 0 17
PGK1 14 0 2 0 0 0 16
AMT, NICN1 1 5 8 1 0 0 14
DAAM2, MOCS1 0 0 7 4 2 0 13
SPR 10 0 3 0 0 0 13
AHCY 2 0 4 1 5 0 12
HIBCH 9 4 1 0 0 0 12
HSD17B10 8 1 3 0 0 0 12
APIP, PDHX 0 0 4 0 6 0 10
BOLA3 2 0 8 0 0 0 10
LOC111982876, MAT1A 0 0 7 2 1 0 10
ACO2, POLR3H 3 2 4 0 0 0 9
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 6 3 0 9
BTD, HACL1 0 0 8 1 1 0 9
MAOA 4 1 2 0 2 0 9
​intergenic 8 0 0 0 0 0 8
ABHD14A-ACY1, ACY1 7 1 1 0 0 0 8
MECR 7 0 1 0 0 0 8
BCKDK 3 1 3 0 0 0 7
GAMT, NDUFS7 0 0 0 4 4 0 7
INS, INS-IGF2, TH 0 0 0 2 5 0 7
ACO2 2 0 4 0 0 0 6
GCH1 6 0 0 0 0 0 6
LIAS, LOC112939935 0 0 4 2 0 0 6
PYCR1 5 0 1 0 0 0 6
SLC1A4 5 0 1 0 0 0 6
SLC25A1 6 0 0 0 0 0 6
SLC6A9 4 0 0 0 2 0 6
MYO5A 3 0 1 0 1 0 5
PMPCB 5 0 0 0 0 0 5
SLC6A19 4 0 1 0 0 0 5
DNAJC12 4 0 0 0 0 0 4
IDH2 2 0 0 1 1 0 4
INS, TH 0 0 1 3 0 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
HMGCS2, PHGDH 0 0 0 3 0 0 3
ISCA2 3 1 0 0 0 0 3
MPC1 2 1 0 0 0 0 3
UROC1 2 0 1 0 0 0 3
ADK 2 0 0 0 0 0 2
ATP6V1A 2 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 2
DHFR 2 0 0 0 0 0 2
DMAC2L, L2HGDH 0 0 1 0 1 0 2
GLDC, LOC113839554 1 1 0 0 0 0 2
GLRX5 2 0 0 0 0 0 2
ADK, LOC102723439 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
CENPT, THAP11 0 1 0 0 0 0 1
CYSLTR1, LPAR4, MIR4328, P2RY10, RTL3 1 0 0 0 0 0 1
DGCR5, DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 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
HSERVPRODH, PRODH 1 0 0 0 0 0 1
IDH2, IDH2-DT 0 0 1 0 0 0 1
ISCA1 1 0 0 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
OGDH 0 0 1 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 309 66 681 271 277 0 1604
Illumina Clinical Services Laboratory,Illumina 54 15 960 280 184 0 1493
Counsyl 111 471 338 22 0 0 942
OMIM 552 0 0 0 1 0 553
ARUP Institute,ARUP Laboratories 194 2 6 0 12 0 214
ClinGen PAH Variant Curation Expert Panel, 68 49 31 3 7 0 158
GeneReviews 144 0 0 0 13 0 157
Fulgent Genetics 74 23 57 0 0 0 154
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
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 2 50
Genomic Research Center,Shahid Beheshti University of Medical Sciences 17 9 20 0 0 0 46
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 4 2 0 17 23 0 46
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 3 0 14 6 0 27
Genetic Services Laboratory, University of Chicago 15 7 3 0 0 0 25
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 15 7 0 0 0 0 22
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
SingHealth Duke-NUS Institute of Precision Medicine 6 7 7 1 0 0 21
Institute of Human Genetics,Klinikum rechts der Isar 11 6 0 0 0 0 17
Baylor Genetics 9 2 5 0 0 0 16
Department of Genetics,Sultan Qaboos University Hospital, Oman 6 1 7 0 0 0 14
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 3 0 10 0 0 0 13
Division of Human Genetics,Children's Hospital of Philadelphia 8 2 2 0 0 0 12
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 4 7 0 12
GenomeConnect, ClinGen 0 0 0 0 0 11 11
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 5 0 1 0 10
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
HudsonAlpha Institute for Biotechnology 5 1 2 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 4 1 1 2 0 8
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 5 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 3 4 0 0 0 0 7
Elsea Laboratory,Baylor College of Medicine 6 0 0 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 4 0 0 6
Bonnen Lab,Baylor College of Medicine 6 0 0 0 0 0 6
Caldovic Lab,Children's National Health System 0 6 0 0 0 0 6
Mendelics 2 2 0 1 0 0 5
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 3 0 0 0 0 5
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 3 0 0 0 0 5
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
Undiagnosed Diseases Network,NIH 1 0 3 0 0 0 4
TIDEX, University of British Columbia 0 1 3 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 3 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 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
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
UCLA Clinical Genomics Center, UCLA 0 2 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
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 0 2
laboratory of biochemistry,Caen University Hospital 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
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 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
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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 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

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