ClinVar Miner

Variants in gene ATP6V0A2

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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
33 23 296 270 102 8 670

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALG9 congenital disorder of glycosylation 22 5 132 185 36 0 380
not provided 7 5 103 91 68 0 255
Cutis laxa with osteodystrophy 9 2 94 8 42 8 160
Inborn genetic diseases 0 1 61 2 0 0 64
not specified 0 0 18 21 17 0 54
Cutis laxa with osteodystrophy; Wrinkly skin syndrome 4 11 13 2 0 0 30
ATP6V0A2-related disorder 0 0 3 22 2 0 27
Wrinkly skin syndrome 1 0 1 0 7 0 9
Cutis Laxa, Recessive 0 0 5 2 0 0 7
Cutis laxa 1 1 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 22 5 132 190 36 0 385
GeneDx 3 2 81 87 54 0 227
Illumina Laboratory Services, Illumina 0 0 90 10 38 0 138
Ambry Genetics 0 1 61 2 0 0 64
Breakthrough Genomics, Breakthrough Genomics 0 0 4 12 32 0 48
PreventionGenetics, part of Exact Sciences 0 0 3 22 7 0 32
Eurofins Ntd Llc (ga) 4 0 15 1 11 0 31
CeGaT Center for Human Genetics Tuebingen 0 0 11 16 2 0 29
Fulgent Genetics, Fulgent Genetics 4 9 13 1 0 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 10 1 0 0 13
Athena Diagnostics 0 0 5 3 4 0 12
GeneReviews 1 0 0 0 1 8 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 6 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 5 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Genetic Services Laboratory, University of Chicago 0 0 4 2 0 0 6
Revvity Omics, Revvity 0 3 3 0 0 0 6
OMIM 5 0 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 5 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Baylor Genetics 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Division of Biology and Genetics, University of Brescia 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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