ClinVar Miner

Variants studied for Mitochondrial complex I deficiency

Coded as:
Minimum submission review status: Collection method:
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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
17 27 96 34 3 4 178

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NUBPL 1 2 16 2 0 1 21
NDUFAF5 0 3 7 7 2 0 19
ACAD9 5 7 1 0 0 0 13
NDUFS6 0 0 8 5 0 0 13
NDUFS1 0 0 9 2 0 0 11
NDUFA10 0 0 7 2 0 0 9
NDUFS2 0 1 8 0 0 0 9
NDUFV1 0 3 4 0 0 1 8
GAMT, NDUFS7 0 0 0 7 0 0 7
LOC130065433, NDUFAF5 0 0 4 3 0 0 7
FOXRED1 1 1 2 0 0 0 4
LOC126861242, NDUFV1 2 1 2 0 0 0 4
NDUFAF2 0 0 4 0 0 0 4
NDUFAF4 1 0 2 1 0 0 4
NDUFS3 0 1 3 0 0 0 4
NDUFS4 1 1 1 1 0 0 4
ACAD9, CFAP92 1 2 0 0 0 0 3
ERCC8, NDUFAF2 0 0 1 1 1 0 3
LOC130062145, NDUFV2 0 0 3 0 0 0 3
LOC112081413, NDUFS8 0 0 2 0 0 0 2
MT-ND2 2 0 0 0 0 0 2
NDUFAF3 0 0 2 0 0 0 2
NDUFS7 0 0 2 0 0 0 2
NDUFS8, TCIRG1 0 0 1 1 0 0 2
SLC25A10 0 2 0 0 0 0 2
AMACR, C1QTNF3-AMACR 0 0 1 0 0 0 1
AP4S1, ARHGAP5, DTD2, GPR33, HEATR5A, HEATR5A-DT, HECTD1, LINC02313, LOC112267854, LOC121838588, LOC124995355, LOC124995356, LOC124995359, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC129390617, LOC129390618, LOC129390619, LOC130055443, LOC130055444, LOC130055445, LOC130055446, LOC130055447, LOC130055448, LOC130055449, LOC130055450, LOC130055451, LOC130055452, LOC130055453, LOC130055454, MIR624, NUBPL, NUBPL-DT, STRN3 0 0 1 0 0 0 1
LOC112552175, NDUFA11 0 0 1 0 0 0 1
LOC125371495, NDUFA13 1 0 0 0 0 0 1
LOC130068621, NDUFA1 0 0 1 0 0 1 1
MRPL36, NDUFS6 0 0 0 1 0 0 1
MT-ND3 0 1 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 1
NDUFA11 0 0 1 0 0 0 1
NDUFAF1 0 0 1 0 0 0 1
NDUFAF7 0 0 0 0 0 1 1
NDUFB10 0 1 0 0 0 0 1
NDUFB3 0 1 0 0 0 0 1
NDUFS8 0 0 1 0 0 0 1
NDUFV2 0 0 0 1 0 0 1
TMEM126B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 60 16 1 0 78
Natera, Inc. 0 2 18 16 2 0 38
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 9 0 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 6 1 0 0 8
OMIM 4 0 2 0 0 0 6
Baylor Genetics 1 1 3 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Computational Biology Unit, University of Bari 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 1 0 0 0 0 0 1
Simons Lab, The University of Queensland 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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