ClinVar Miner

Variants in gene ALG9

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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 total
17 19 187 112 48 352

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
ALG9 congenital disorder of glycosylation 10 2 112 71 23 217
not provided 0 1 31 34 29 91
ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 0 16 42 11 1 70
ALG9-related disorder 1 3 4 22 2 32
not specified 0 0 1 17 12 29
Congenital disorder of glycosylation 0 0 20 1 0 21
Inborn genetic diseases 0 0 10 1 0 11
Autosomal dominant polycystic liver disease 0 0 0 0 4 4
Gillessen-Kaesbach-Nishimura syndrome 1 0 1 0 2 4
ALG9-associated autosomal dominant polycystic kidney disease 2 0 1 0 0 3
Familial cystic renal disease 2 0 1 0 0 3
Autosomal dominant polycystic kidney disease 1 0 0 0 0 1
Gillessen-Kaesbach-Nishimura dysplasia 1 0 0 0 0 1
Polycystic kidney disease, adult type 1 0 0 0 0 1
Polycystic kidney disease, adult type; Autosomal dominant polycystic liver disease 1 0 0 0 0 1
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 2 47 68 21 144
Illumina Laboratory Services, Illumina 0 0 75 5 2 82
GeneDx 0 0 10 37 27 74
Fulgent Genetics, Fulgent Genetics 0 16 42 11 1 70
PreventionGenetics, part of Exact Sciences 1 3 4 22 2 32
Breakthrough Genomics, Breakthrough Genomics 0 0 10 8 12 30
CeGaT Center for Human Genetics Tuebingen 0 0 5 8 1 14
Ambry Genetics 0 0 10 1 0 11
Eurofins Ntd Llc (ga) 0 0 4 0 5 9
Athena Diagnostics 0 0 2 2 2 6
Stefan Somlo Laboratory, Yale School of Medicine 2 0 0 0 4 6
OMIM 5 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 1 1 2 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 2 0 4
Mayo Translational Polycystic Kidney Disease Center, Mayo Clinic 3 0 1 0 0 4
Baylor Genetics 0 0 3 0 0 3
New York Genome Center 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 1
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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