ClinVar Miner

Variants studied for 2-hydroxyglutaric aciduria

Included ClinVar conditions (6):
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
65 21 368 278 93 2 785

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
D2HGDH 16 7 137 117 43 1 293
L2HGDH 35 7 94 69 17 1 216
IDH2 2 2 82 62 21 0 165
DMAC2L, L2HGDH 1 1 14 9 3 0 27
D2HGDH, LOC129936031 1 1 12 6 3 0 23
IDH2, IDH2-DT 0 0 10 6 2 0 18
D2HGDH, LOC129936032 0 0 5 8 2 0 15
SLC25A1 7 3 4 0 0 0 12
D2HGDH, LOC129936033 0 0 7 1 2 0 10
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 1 0 0 0 2
ABHD2, ACAN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, CIB1, CRTC3, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IQGAP1, KIF7, LINC00928, MAN2A2, MESP1, MESP2, MFGE8, MIR9-3, NGRN, PEX11A, PLIN1, POLG, PRC1, RCCD1, RHCG, RLBP1, SEMA4B, TICRR, UNC45A, VPS33B, WDR93, ZNF710, ZNF774 0 0 1 0 0 0 1
ABHD2, ACAN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, CIB1, CRTC3, FANCI, GDPGP1, HAPLN3, IDH2, IQGAP1, KIF7, LINC00928, MESP1, MESP2, MFGE8, MIR9-3, NGRN, PEX11A, PLIN1, POLG, RHCG, RLBP1, SEMA4B, TICRR, WDR93, ZNF710, ZNF774 0 0 1 0 0 0 1
D2HGDH, LOC129389016 1 0 0 0 0 0 1
L2HGDH, LINC01588, LINC01599, LOC125024479, LOC125024480, LOC129390630, LOC130055566, LOC130055567, LOC130055568, LOC130055569, LOC130055570, LOC130055571, LOC130055572, LOC130055573, LOC130055574, LOC130055575, LOC130055576, LOC130055577, LOC130055578, LOC130055579, LOC130055580, LOC130055581, LOC130055582, LOC130055583, LOC130055584, LOC130055585, LOC130055586, LOC130055587, LOC130055588, LOC130055589, SOS2, VCPKMT 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 6 267 264 75 0 646
Illumina Laboratory Services, Illumina 0 0 75 9 30 0 113
OMIM 22 0 0 0 0 0 22
Baylor Genetics 5 0 17 0 0 0 22
Fulgent Genetics, Fulgent Genetics 2 0 6 6 0 0 14
Genetic Services Laboratory, University of Chicago 6 2 2 1 0 0 11
Genome-Nilou Lab 0 0 0 0 10 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 1 2 0 0 0 5
Mendelics 0 1 0 0 3 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 0 3 0 0 0 4
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 1 0 3
Centogene AG - the Rare Disease Company 1 0 1 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Breda Genetics srl 1 0 1 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 1
Diagnosticos Moleculares y Geneticos Departamento, Dimygen Laboratorio 0 0 1 0 0 0 1

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